An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.
The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).
An enzyme that catalyzes the conversion of 4-hydroxyphenylpyruvate plus oxygen to homogentisic acid and carbon dioxide. EC 1.13.11.27.
Cyclohexane ring substituted by one or more ketones in any position.
Non-heme iron-containing enzymes that incorporate two atoms of OXYGEN into the substrate. They are important in biosynthesis of FLAVONOIDS; GIBBERELLINS; and HYOSCYAMINE; and for degradation of AROMATIC HYDROCARBONS.
Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Benzoic acid or benzoic acid esters substituted with one or more nitro groups.
General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.
Oxidases that specifically introduce DIOXYGEN-derived oxygen atoms into a variety of organic molecules.

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). (1/39)

We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the homogentisate 1,2 dioxygenase gene (HGO). Herein we describe haplotype and mutational analyses of HGO in seven new AKU pedigrees. These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G) and six novel AKU mutations (INV1-1G-->A, W60G, Y62C, A122D, P230T, and D291E), which further illustrates the remarkable allelic heterogeneity found in AKU. Reexamination of all 29 mutations and polymorphisms thus far described in HGO shows that these nucleotide changes are not randomly distributed; the CCC sequence motif and its inverted complement, GGG, are preferentially mutated. These analyses also demonstrated that the nucleotide substitutions in HGO do not involve CpG dinucleotides, which illustrates important differences between HGO and other genes for the occurrence of mutation at specific short-sequence motifs. Because the CCC sequence motifs comprise a significant proportion (34.5%) of all mutated bases that have been observed in HGO, we conclude that the CCC triplet is a mutational hot spot in HGO.  (+info)

Allelic heterogeneity of alkaptonuria in Central Europe. (2/39)

Defects of the homogentisate 1,2 dioxygenase (HGO; E.C. No. 1.13.11.5) have been identified as the molecular cause of alkaptonuria in humans (AKU) and the aku mouse. Here, we report on the genetic basis of 30 AKU patients from Central Europe. In addition to five mutations described previously, we have detected five novel HGO mutations. Recombinant expression of mutated HGO enzymes in E. coli demonstrates the inactivating effect of three of these mutations. A genetic epidemiologic study in Slovakia, the country with the highest incidence of alkaptonuria, demonstrates that two recurrent mutations (c.183-1G > A and Glyl61Arg) are found on more than 50% of AKU chromosomes. An analysis of the allelic association with intragenic DNA markers and of the geographic origins of the AKU chromosomes suggests that several independent founders have contributed to the gene pool, and that subsequent genetic isolation is likely to be responsible for the high prevalence of alkaptonuria in Slovakia.  (+info)

Mutational analysis of the HGO gene in Finnish alkaptonuria patients. (3/39)

Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been characterised in AKU patients of different ethnic origin. We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. The three novel AKU mutations are most likely specific for the Finnish population and have originated recently.  (+info)

Structural and functional analysis of mutations in alkaptonuria. (4/39)

Alkaptonuria (AKU), the prototypic inborn error of metabolism, was the first human disease to be interpreted as a Mendelian trait by Garrod and Bateson at the beginning of last century. AKU results from impaired function of homogentisate dioxygenase (HGO), an enzyme required for the catabolism of phenylalanine and tyrosine. With the novel 7 AKU and 22 fungal mutations reported here, a total of 84 mutations impairing this enzyme have been found in the HGO gene from humans and model organisms. Forty-three of these mutations result in single amino acid substitutions. This mutational information is analysed here in the context of the HGO structure and function using kinetic assays performed using purified AKU mutant enzymes and the crystal structure of human HGO. HGO is a topologically complex structure which assembles as a functional hexamer arranged as a dimer of trimers. We show how the intricate pattern of intra- and inter-subunit interactions and the extensive surfaces required for subunit folding and association of this oligomeric enzyme can be inactivated at multiple levels by single-residue substitutions. This explains, in part, the predominance of missense mutations (67%) in AKU.  (+info)

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. (5/39)

Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups. One notable exception is in Slovakia, where the incidence of AKU rises to 1:19,000. This high incidence is difficult to explain by a classical founder effect, because as many as 10 different AKU mutations have been identified in this relatively small country. We have determined the allelic associations of 11 HGO intragenic polymorphisms for 44 AKU chromosomes from 20 Slovak pedigrees. These data were compared to the HGO haplotype data available in our laboratory for >80 AKU chromosomes from different European and non-European countries. The results show that common European AKU chromosomes have had only a marginal contribution to the Slovak AKU gene pool. Six of the ten Slovak AKU mutations, including the prevalent G152fs, G161R, G270R, and P370fs mutations, most likely originated in Slovakia. Data available for 17 Slovak AKU pedigrees indicate that most of the AKU chromosomes have their origins in a single very small region in the Carpathian mountains, in the northwestern part of the country. Since all six Slovak AKU mutations are associated with HGO mutational hot spots, we suggest that an increased mutation rate at the HGO gene is responsible for the clustering of AKU mutations in such a small geographical region.  (+info)

Screening for inherited metabolic disease in Wales using urine-impregnated filter paper. (6/39)

Urine specimens from 135 295 infants have been collected on filter papers and tested for 7 abnormal urinary constituents using spot tests and paper chromatography. The method has detected 5 infants with phenylketonuria, 4 with histidinaemia, 5 with cystinuria, 5 with diabetes mellitus, and one with alcaptonuria. Transient abnormalities such as tyrosyluria, generalized aminoaciduria, cystinuria, and glycosuria have been noted. 2 phenylketonuric infants failed to excrete a detectable quantity of o-hydroxyphenlacetic acid at the time of testing. The findings show that the detection of this compound in urine is an unreliable method of screening for phenylketonuria.  (+info)

Natural history of alkaptonuria. (7/39)

BACKGROUND: Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria. METHODS: We evaluated 58 patients with alkaptonuria (age range, 4 to 80 years), using clinical, radiographic, biochemical, and molecular methods. A radiographic scoring system was devised to assess the severity of spinal and joint damage. Two patients were treated with nitisinone for 10 and 9 days, respectively. RESULTS: Life-table analyses showed that joint replacement was performed at a mean age of 55 years and that renal stones developed at 64 years, cardiac-valve involvement at 54 years, and coronary-artery calcification at 59 years. Linear regression analysis indicated that the radiographic score for the severity of disease began increasing after the age of 30 years, with a more rapid increase in men than in women. Twenty-three new HGO mutations were identified. In a 51-year-old woman, urinary HGA excretion fell from 2.9 to 0.13 g per day after a 10-day course of nitisinone (7 days at a dose of 0.7 mg per day and 3 days at 2.8 mg per day). In a 59-year-old woman, urinary HGA fell from 6.4 g to 1.7 g per day after nine days of treatment with nitisinone (0.7 mg per day). Plasma tyrosine levels in these patients rose from approximately 1.1 mg per deciliter (60 micromol per liter) in both to approximately 12.8 mg per deciliter (700 micromol per liter) and 23.6 mg per deciliter (1300 micromol per liter), respectively, with no clinical signs or symptoms. CONCLUSIONS: The reported data on the natural history of alkaptonuria provide a basis for the evaluation of long-term therapies. Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation.  (+info)

Spontaneous tendon ruptures in alkaptonuria. (8/39)

Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alkaptonuria.  (+info)

The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some patients also develop kidney stones and heart valve problems. Alkaptonuria has not been studied for decades; and scientists expect to gain comprehensive clinical information using current medical techniques.. Patients with alkaptonuria who are at least one month old may be eligible for this study. Participants will be evaluated at NIH s Clinical Center for 5 days every 2 to 3 years. They will have a medical history, physical examination, routine blood and urine tests. Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies. ...
Get information, facts, and pictures about Alkaptonuria at Encyclopedia.com. Make research projects and school reports about Alkaptonuria easy with credible articles from our FREE, online encyclopedia and dictionary.
BACKGROUND: Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in increased circulating homogentisic acid (HGA). Over time HGA is progressively deposited as a polymer (termed ochronotic pigment) in collagenous tissues, especially the cartilages of weight bearing joints, leading to severe joint disease. OBJECTIVES: To characterise blood biochemistry and arthropathy in the AKU mouse model (Hgd-/-). To examine the therapeutic effect of long-term treatment with nitisinone, a potent inhibitor of the enzyme that produces HGA. METHODS: Lifetime levels of plasma HGA from AKU mice were measured by high-performance liquid chromatography (HPLC). Histological sections of the knee joint were examined for pigmentation. The effect of nitisinone treatment in both tissues was examined. RESULTS: Mean (±SE) plasma HGA levels were 3- to 4-fold higher (0.148±0.019 mM) than those recorded in human AKU. ...
This is a proposal to develop the orphan designated drug, nitisinone, for the treatment of a rare Mendelian disease, Alkaptonuria (AKU). Thanks to our existing successful fundamental and clinical research (cell models, animal models, natural history studies), we are now ready for this final stage of clinical development of nitisinone for AKU: a phase 3 clinical trial to prove efficacy. The results of DevelopAKUre will allow us to make the case to the European Medicines Agency for marketing authorisation of nitisinone for AKU, thereby contributing to the goal of the International Rare Diseases Research Consortium of developing 200 new therapies by 2020 ...
Taylor, Adam Michael and Hsueh, Ming-Feng and Ranganath, Lakshminarayan and Gallagher, James and Huebner, Janet and Catterall, Jon and Byers Kraus, Virginia (2011) Analysis of cartilage biomarkers of aging and turnover in the osteoarthropathy of alkaptonuria. In: UNSPECIFIED. Full text not available from this repository ...
Alkaptonuria may present with symptoms and signs such as severe arthritis of the fingers, and joints of the knee, arthralgia and pigmentation of the neck, ears, thorax, conjunctiva and nasal bridge.
Archibald Garrod was the son of the physician, Alfred Baring Garrod, who diagnosed and studied rheumatoid arthritis. Although his father initially intended for Archibald to study business, his teachers recognized and encouraged him to go into the field of science and medicine. Garrod studied medicine at Oxford University and became a physician.. Garrod was studying the human disorder alkaptonuria. He collected family history information (as well as urine) from his patients. Based on discussions with Mendel advocate William Bateson, Garrod deduced that alkaptonuria is a recessive disorder. In 1902, Garrod published a book called The Incidence of Alkaptonuria: a Study in Chemical Individuality. This is the first published account of a case of recessive inheritance in humans.. Garrod was also the first to propose the idea that diseases were inborn errors of metabolism. He believed that diseases were the result of missing or false steps in the bodys chemical pathways. In 1923, his studies on ...
sory yek kawan2....mulai beberapa hari ni aku dah mula tak sedap badan..tekak..kepala..pantang celik mata..mulalah rasa loya..nak muntah..kepala pun agak pusing2..jadik sebab tu aku jarang update blog sekarang..baca blog kawan2 pun..baca2 gitu je..tak tinggal komen pun..ade mood adela aku tinggalkan..tapi utk tidak mghampakan..sape2 yg tag aku..aku akan cube selesaikan secepat mgkin sebelum kemalasan aku lebih meningkat tahapnyee..aku perasan..peknen kali ni aku jadi seorang yg agak malas!!mesti ade yg pikir..anak lelaki agaknye kali ni....tapi tu semua takleh jadik petunjuk..sebab masa mengandungkan ukail , aku adalah seorang yg sangat rajin!!sampai orang2 ingat aku bakal dpt baby girl........apapun..cukup dulu..lain masa aku cube gagahkan diri key ...
Pain management information for pain medicine healthcare professionals in treating and caring for their patients. Clinical Pain Advisor offers news, case studies and more.
Führend in der deutschen Anästhesiologie - die auflagenstärkste Fachzeitschrift für Anästhesie, Intensivmedizin, Notfallmedizin und Schmerztherapie
Aku memang rajin berpeluh ( even aku sorang yang tidak gemuk ;D ) tapi x la sampai tahap hyper. So pada siapa² yg x tau saje aku nk bagitau. ( Ade orang yang gelii kt aku, yela jln sikit peluh dah laju je mengalir, kadang² agak terase gak la hati jantan ku ini haha). Kalau tapak tangan tak lah selalu sangat, tapi time aku gelabah, nervous ke ha time 2 memang rajin betul peluh aku keluar. Pape pun kene terima jugak, kawan aku pon ade 4, 5 orang dapat sakit camni. Aku paham korang, aku patut bersyukur. Ade oarang tu peluh dia keluar 3 kali ganda hyper daripada aku ...
salam.....ary nie bes ckit la....coz aku x derk class malam....n xtvt pun tade malam nie..n bley la aku nak online.....hehe..bercakap psal online...skunk nie aku hanya boley online kat computer lab jer..tu pun sementara na menunggu lec aku datang....kalu x...x sempat la aku nak jalan2 kat blog org laen...hehe...pasal broadband plak..erm....ader masalah ckit ngn BB..so x ley la nak online jgk....nie pun aku rembat BB roomate aku..hehhe...bru balik dari pasar malam kat uitm nie brape jam yang lepas....nmpknya ley la aku menjimatkan ckit money aku kan...besela la tgk macam2 aneka makanan nie..nafsu makan pun bertambah2 la....money pun banyak la mengalir keluar..hehe...erm...sedar x sedar..bape ary jer bulan ramadan nak menjelma.....tido..bagun...tido ...bangun....da 1 ramadan..erm...hope bulan nie aku ley pose penuh...(macam boley jer kan!!!)hahaha...k...selamt malam....sweet dreams ...
Aku mula rasa resah bila saat2 yang ditunggu-tunggu akan tiba khamis ini(26/5)...Aku cube tuk lelapkan mata tapi still xbole lg...arrrggg geram pun ada...sok pagi da nak kena pergi temuduga..(dalam hati tuhan je yang tahu)..Aku cube jugak tido dan akhirnya aku berjaya lelapkan mata aku nie..hehe..tibe2 aku terjage dengar bunyi loceng nset..arkkkkk nape kejap sangat tido..Ngantoknyee...tengok jam bawu je pukul 0430 pagi....nak x nak kena jugak la bangun...Bangun je terus aku kemas tempat tido tp waktu tuh xde sape pun lagi yang bangun cume aku sorang je..xpe...aku gagahkan jugak diri nie..aku p mandi ..da siap mandi aku wat solat sunat...segala solat sunat aku wat..heheh...(RAJINNYA)..lepas solat sunat aku p kat meja aku terus baca segala info2 yang aku da tulis lam buku nota aku tuh..aku bace dan cube fahamkan atau aku cube hafal segala yang aku tulis tuh..banyak jugak..argggg...tension...lepas tuh aku tinggal je nota tuh...bile aku paling je ke jam..aku nampak jarum pendek kat pukul 5 n jarum ...
lalu kali ini aku nekad dan aku berjanji pada diri sendiri...aku tak akan lagi membiarkan kenangan itu terus menghuni dalam sudut hati aku..walau apa pun aku bersyukur walaupun kebahagiaan itu tidak lama tapi cukuplah untuk membuat aku berasa gembira walau untuk sementara waktu..dan biarlah ianya terus kukenang sebagai sebahagian daripada kenangan terindah dalam hidup aku..aku mahu buang jauh2 semua apa yg dah berlaku, aku tak akan membiarkan lagi hati aku kalah dengan ceritera ini... ...
Lately aku mmg bz yang amat2... Blk kerja selambat2nya hari2... Sabtu ahad cuti perlu kerja... Sedar tak sedar aku telang menyinggungkan/ mengecikkan/ or erti kata lain mengabaikan orang2 yang aku sayangi serta menyayangi aku... Tetapi aku tiada peluang, aku harus menyudahkan segala urusan yg telah aku mulakan... Nak duit, kene kerja keras.. Skarang aku bukan diuji sbg pekerja lagi dah.. Aku diuji sekiranya satu masa nanti jika aku juga menjadi owner di dalam satu2 bisnes... Aku diuji sebagai seorang usahawan dimana dalam perniagaan itu pasti akan ada turun naiknya.. Dan aku boleh bayangkan bagaimana sekiranya perniagaan aku merudum, dan semua org lari... Jadi, dengan rasa tanggung jawab aku berusaha bersama2 untuk meneruskan apa yang mampu... Aku yakin, segala yang berlaku pasti ada hikmahnya.. Semua yang terjadi telah tertulis... Namun yang demikian aku alpa, aku lupa... Aku lupa aku punya tanggung jawab lain yang lbh penting.. Aku lupa aku juga seorang isteri yang perlu memberi perhatian ...
dlm post aku sblm nie,aku ada cerita mengenai menses aku kembali normal bermula Disember 2010 hingga lah aku disahkan keguguran pada Mac 2011...sblm aku keguguran,aku ada bertemujanji ngan klinik pada 24 Januari 2011...dgn bangganya aku bgtau doktor,period ku dah on bulan2 skrg...doktor cakap,aku kena check hormon lagi utk hari ke 21 selepas menses dan hari ke 2 menses sterusnya...kedua2nya dgn jayanya telah ku lakukan pada Februari 2011...tp resultnya keluar selepas aku keguguran pada Mac 2011...result ini lah yg membuatkan aku percaya aku mmg keguguran....sbb masa aku keguguran,aku langsung tak tahu aku mengandung...keluarga & kawan2 pun tidak percaya aku mengandung...maybe disebabkan aku gemuk jd mereka tak percaya aku bleh mengandung...tp result hormon progesteron aku normal buat pertama kalinya...itu yg aku sebalkan di sini...result itu menunjukkan aku mmg bertelur pada cycle Februari 2011,jd tidak mustahil aku pregnant dan keguguran ...
arini aku sesaje start tulis blog...nape tah tetiba jek rasa nak tulis blog..rasa busan sesgt...tatau nape..perasaan ni dtg tetiba jek...aku busan ngan macam2...ngan keje bebenonya....aku tatau arr...maybe sbb aku dgr mcm2 psl kompeni ni..n aku compare kan kompeni aku ni ngan kompeni lama aku..kompeni lama aku pon tak laa seHEBAT n seGAH mana pon...tp disbbkan kan sini lg worst dari kompeni lama aku..tuh buat aku rasa lg busan..aku skrg ni tgh pregnant 8 bulan ++..skrg ni aku tak sbo nak deliver jek..tak sabo nak jumpe ngna baby aku nih...yg selama ni jadi teman duka lara aku nih...yg selama ni ape2 pon aku luahkan kat baby aku ni..walaupon aku tau..dia bkn phm pon tp at least dia tau mommy dia rasa ape..mommy tak sabo nak jumpe baby...arrghh...busan..busan..busan..tak baik jek aku ni..cam tak bersyukur ngan kurniaan Allah..tp bukan camtuh..mmg aku busan...nak carik keje lain...aku nak jadik lecturer..tp rezeki Allah tuh tak sampai lagi..tak pe laa...aku akan tetap berusaha jugak nak jd ...
Ehh..... Mahathir Lokman. The famous voice. Aku suka dengar suara dia dan karisma dia semasa mengendalikan majlis. Bule ke aku jadi macam dia jugak? Ermm..aku cuma pandai cakap melayu and sket-sket English. Arab bule laaa...sket sangat..lain-lain aku tatau. Time to catch up with Language Classes? Bonjour..!!. Gambar Mahathir Lokman diambil selepas lawatan Pak Lah. Pak Lah tak singgah pun kat booth kami. Mujur jugak kami tak gedik-gedik sangat nak jumpa Pak Lah. Cukuplah tengok dari jarak kurang 5 meter. Pak Lah ni pada aku nampak muka lembut tp he rules the country. Ermm..bule ke aku buat macam dia? Rilek je bila orang kutuk aku? Semalam pun kena kutuk ngan Kak C. Ahakss. Ayat biasa dia... Bijak ye u all ni. Buat keje mudah je. Takde scientific research tapi keluar product,. Ye kak C. Cuba tengok poster. Ni ada FTIR, ada SEM photomicrograph,. Macam biasalah. Apapun aku explain dia takkan terima jugak. Biar jelah. Dulu aku kena lagi teruk dengan dia..biarkan aje. Dia dah tahap tinggi sangat ...
Adelia dah xpakai sarung tangan dan stoking start hari ke55..now dia dah umur 63hari.Kira baru sangat lagi la aku xbagi dia pakai sarung tangan dgn stoking. Tapi waktu malam aku memang bagi adelia pakai stoking.sebab sejuk.tangan memang siang malam aku biarkan ja. Sebenarnya sampai bila nak pakaikan sarung tangan dan stoking nie??.. Aku ada sms doktor yang aku kenal.aku tanya pasal sampai bila nak bagi adelia pakai sarung tangan..dgn stoking. So dia advise aku..aku tulis based pada apa yang aku paham. Seeloknya,pakaikan sarung tangan sampai umur 1bulan sahaja.sebab masa umur 1bulan++ baby dia akan start sedar yang dia ada tangan..ada jari..ada kaki..dia akan cuba explore tangan dengan jari dia..sebab tu kita tengok baby start nak cuba hisap jari. Kalau kita pakaikan sarung tangan,baby akan terbatas.pergerakan jari dia terbatas.cuba tengok bila baby kita xpakaikan sarung tangan.. Jari dia melilau meratakan..hehe..macam adelia,dia nak isap ibu jari sampai jari lain masuk hi ...
Tapi kan gengs bg aku org berbloq ni ada agenda dan matlamat mereka sendiri.... aku berbloq ni umpama aku terkentut gengs..sori gengs perumpamaan aku bunyinyer agak jengkel dan meloya kan....Bila aku nak kentut..aku kene lepaskan geng biarpon kdg2 boleh buat org loya. dan mual....apa daya aku...kentut ni hukum alam..tak boleh menidak kan nya kan....biar busuk aku kene lepaskan....sama ada gengs suka atau tidak ......aku tak boleh puas kan hati semua org...nak kentut aku bau Kristin Dior ke..Istiloder ker....mana aku boleh buat semua tu gengs....tp terkadang aku kene simpan kan kentut aku tu gengs...kemut kentut tu sampai terkentut semula kat dlm perut...menyumpah cacing2 aku kat dlm perut tu kat aku..nak2 pulak bila 3-4 hari tak membuang...tp apakan daya aku...aku kene kemut kentut tu utk tidak memalukan aku dan bukan saja utk aku utk gengs jugak...tak der la gengs terpaksa menahan napas. ...tersilap ari pitam pulak gengs atau silap haribulan gengs boleh sumpah seranah kat dlm hati...malaun mana ...
So aku dpt mc aje pas2 dpt ubat demam. Balik dari spital tu lah bermula penderitaan aku huhuhu .. seksanya kena denggi ni .. bygkan tak lalu nak makan, pas2 asik nak muntah ajer .. bila aku nak bangun, mesti aku rasa melayang nak jatuh. En Bard aku ajak g spital tp hari Ahad tu mcm dah elok sket sbb aku telan ubat migrain sbb x tahan sgt sakit kepala. So Isnin tu aku dtg opis, tapi .... aku lembik balik kat opis. Bygkan dgn muntah ntah berapa kali pas2 sejuk menggigil. Kebetulan ari tu aku ada appointment kat spital sbb nak tau result darah yg aku amek ari tu. G spital semua ok tp aku ada tiroid pulak .. aduh, mcm2 dugaan aku. Pasal tiroid tu lah buat kadar metabolisma aku rendah, sbb tu aku cepat letih, mudah jatuh sakit pas2 berat aku naik. Pas2 aku bgtau pasal aku dah demam dekat seminggu, doktor kuarkan surat rujuk ke emergency. Sib baiklah dia tak suh g klinik kesihatan .. g emergency aku terus masuk wad semi kritikal amek darah pas2 x sampai 5 minit nama aku kena panggil balik. MA tu terus ...
Dah cucuk, kami sekeluarga happy2 pegi Tesco, sbb aku teringin sangat nk makan laksa yg Speckybee masak.Beli barang2 untuk sambutan birthday Uyin kt skolah dia jugak. Pestu pegi makan ikan bakar kejap. Sampai rumah dlm pukul 9 mlm lebih kurang, aku mandikan nasuha, dan kemas2 dapur. Siang ikan untuk Speckybee buat laksa esok. Nasuha mcm biasa, mengekek2 gelak. Tak demam takde apa yg pelik langsung malam tu. Semua biasa2 saja. Dh siap2 kemas dapur, baru sedar rupanya dh pukul 12 mlm. Sakit2 badan aku, letih sgt hari tu. Pegang kepala nasuha, ada panas skit. Check tempreture, 36.8c. Nak demam anak aku ni. Ambil kain basah, lap2 kepala dia. Menyusukan dia. Untuk pengetahuan semua, aku dh lebih kepada natural healing kalau anak aku demam, batuk atau selsema. Masa Nasuha umo 5bulan, dia ada demam skit, bwk pegi jumpa doc. Masa tu suhu 38c. Doc ckp nk masukkan ubat bontot. Aku ckp, ok ke? tak de side effect ke? Doc jawab,oo no... ubat bontot lagi selamat dari Paracetamol. Aku mcm...erk? So, maksudnya ...
Dah cucuk, kami sekeluarga happy2 pegi Tesco, sbb aku teringin sangat nk makan laksa yg Speckybee masak.Beli barang2 untuk sambutan birthday Uyin kt skolah dia jugak. Pestu pegi makan ikan bakar kejap. Sampai rumah dlm pukul 9 mlm lebih kurang, aku mandikan nasuha, dan kemas2 dapur. Siang ikan untuk Speckybee buat laksa esok. Nasuha mcm biasa, mengekek2 gelak. Tak demam takde apa yg pelik langsung malam tu. Semua biasa2 saja. Dh siap2 kemas dapur, baru sedar rupanya dh pukul 12 mlm. Sakit2 badan aku, letih sgt hari tu. Pegang kepala nasuha, ada panas skit. Check tempreture, 36.8c. Nak demam anak aku ni. Ambil kain basah, lap2 kepala dia. Menyusukan dia. Untuk pengetahuan semua, aku dh lebih kepada natural healing kalau anak aku demam, batuk atau selsema. Masa Nasuha umo 5bulan, dia ada demam skit, bwk pegi jumpa doc. Masa tu suhu 38c. Doc ckp nk masukkan ubat bontot. Aku ckp, ok ke? tak de side effect ke? Doc jawab,oo no... ubat bontot lagi selamat dari Paracetamol. Aku mcm...erk? So, maksudnya ...
dan secara tiba-tiba lagi, aku terpandang akan sesuatu benda. ianya kelihatan seperti mata dan warnanya juga kelihatan merah. secara tidak langsung aku bertakikardia dan peluh menghujani badan aku berterusan tanpa henti-henti ( boleh banjir kalau 3 hari hujan tanpa henti ). badan aku basah berjenruk. dan aku mengalami kegigilan serta kekancingan gigi dek takutnya terpandang akan benda itu. cerebral cortex aku suruh aku cabut lari, tapi basal ganglia pulak suruh aku relax dulu. thalamus apa lagi, cuba menakut-nakutkan aku. akhirnya aku berpegang pada kata-kata cerebellum yang menyuruh aku bertindak sebagai detektif conan edogawa. pons dan midbrain berusaha mengembalikan kekuatan aku, ditambah pula kata-kata motivasi dari medulla oblongata menguatkan lagi daya tahan aku. dan aku telah bertekad. bertekad untuk meneruskan tekad aku itu. tambah melengahkan masa, aku bangun dari katil dan terus ke suis utama bilik. aku meraba-raba sesuatu dan aku telah menjumpainya ...
Ya, aku tak kisah berkenalan dan berkawan dengan mereka walaupun aku tahu mereka susah. Ketiadaan wang untuk berbelanja itu perkara biasa bagi mereka. Sebab itulah aku kata, bila berkenalan dengan mereka aku mengenal erti pengorbanan. Masa yang ada aku luangkan dengan mereka. Wang yang ada aku belanjakan untuk kesenangan mereka. Mereka senang, aku bahagia. Mereka murung aku merana. Bunyi macam menggelikan tapi itulah hakikat sebenarnya ...
dari sini aku belajar keras, keras untuk menggali ilmu. dari sini aku belajar kuat, kuat untuk mengetahui betapa sedikitnya ilmu yang kumiliki, sangat sedikit. dari sini aku belajar memaksa, memaksa tuhan agar ilmu itu cepat sampai padaku. dari sini aku belajar sabar, sabar menanti ilmu kan menyapaku. dari sini aku belajar jatuh, jatuh dari mengalahkan ke-egoan ku. dari sini aku belajar kekeluargaan yang sangat-sangat berarti. dari sini aku belajar sebuah komunitas. dari sini aku belajar berkomunikasi yang baik. dari sini aku belajar senang. dari sini aku belajar jaman jahiliyah. dari sini aku belajar mengenal orang-orang yang sangat asing bagiku. dari sini aku menyemangati orang-orang yang memang butuh untuk di support. dari sini aku belajar bahwa waktu itu sangaaat penting. dari sini aku belajar pentingnya komitmen, pentingnya disiplin. dari sini aku belajar kesedihan. dari sini juga aku belajar lebih dekat dengan sang khalik. dari sini aku belajar mengembangkan bakat. dari sini aku mengenal ...
Horror sangat muka aku masa tu, aku serius bertambah stress. Daripada nak okey jadi makin teruk. Aku pakai produk-produk amway tapi nampaknya tak jalan jugak. Aku tak menangis tapi aku stress. Aku dah muka fikir yang tak akan ada lelaki nak terima aku dengan muka aku macam tu. Aku taknak keluar rumah, tak nak jumpa kawan-kawan. Ada sekali tu aku bawak mak aku pergi KL sebab ade wedding invitation dari sedara-mara. Dengan muka yang menggerutu tu, aku follow jugak. Then, ada seorang makcik, dia salah seorang sedara aku tapi aku tak berapa kenal. Dia puji aku cantik, muka macam mix arab katanya. Aku senyum dengar makcik tu cakap tapi dalam hati aku macam nak meraung! Tapi dari muka makcik tu, aku nampak dia puji ikhlas bukan sebab perli. Makcik, makcik tak tengok lagi muka saya sebelum semua ini terjadi makcik. Dulu, muka saya tak macam ni. Tapi pepatah dulu-dulu orag tak pakai dah. Orang akan judge current state kita ...
Nama aku Amalina. Nama bajet glamour NinaAz. Az tu nama abah aku. So, just call me NINA. Ahaks!. Aku suka menaip, tapi penulisan aku ntah apa2. Aku suka Travel, tapi tak de sangat pun pasal travel dalam blog aku nih sebab aku travel dalam mimpi jer..tssskk..tssskk. Aku suka makan, sebab tu aku gemuk-kurus. pfffttttt. Aku suka memasak, tapi bab2 pastri je aku minat. Aku suka berfesyen, tapi fesyen aku agak lambat dan sudah lapuk ditelan hujan. Aku suka Shopping, kau suka?. Haaaa. satu lagi. Aku suka bab-bab kecantikan. Tapi, nak cuci muka hari2 pun aku malas sangat. Hahahahahahaa. Ini belog aku untuk suka2 jea. Terharu sangat bila ada orang sudi singgah. Nangis mak jemah. Happy reading ok! love.love.love ...
sbb aku mcm takut kalu nnt aku xikut ckp diorg, diorg akn ckp belakang2 aku pastu sume org xnk kawan ngn aku..aku takut nnt kalu xde kawan pegi mane2 sume sorg2 pastu nnt org akn tgk eh, nape bdk ni jln sorg2 sian die xde kawan, msti perangai dia xelok sbb tu org xnk kwn ngn dia..lol..sadis gler pnyakit physcology aku nih..tp bila umur dh nk masuk 21tahun ni tibe2 aku terfikir sampai bila aku nk jd cmni..hidup bagaikan hamba semua org..aku pn ade hak utk hidup aku sendiri.. di peringkat umur 21tahun ni aku dh kena bfikiran matang..org xbole nk control hidup aku, aku sndiri yg kena control..org2 disekeliling aku ni akn jd guider je.. aku kena kuat, bukan semua benda ko kne ckp YES, ade benda yg ko kena ckp NO..sampai bila nk kene jd hamba untuk semua org??think suzy think..ko dh besar, istilah xde org nk kawan ngn ko ni dh lapok..bialah org xnk kawan ngn ko sbb ko xikut ckp diorg janji ko xkacau pn hidup diorg..fuhh, emo giler aku.. ...
Sedang memberi duit raya kepada kanak-kanak yang datang kerumah aku, aku terfikir maksud aidilfitri. Aku dengan confident memberi jawapan dalam hati yang aidilfitri bermaksud kejayaan selepas berjuang menahan nafsu dibulan Ramadhan. Aku stick with that answer till yesterday aku dengar Dr. Fadzillah Kamsah di radio Era. Aku yang memang failed bahasa Arab kagum bila Dr. Fadzillah beritahu aku aidilfitri bermaksud kembali ke asal. Aidil bermaksud kembali atau berpusing dan Fitri adalah root word for fitrah atau asal. Bukan pula bermaksud kembali keasal seperti sebelum bulan puasa, mungkin rutin harian kita sememangnya kembali keasal. Bererti bangun subuh tidak lagi pukul 5 pagi, lunch hour bukan hanya untuk tidor dan maghrib hanyalah loceng untuk kita berhenti bermain atau sudah tiba masanya untuk pulang kerumah. Aidilfitri sebenarnya bermaksud kita kembali seperti baru dilahirkan kedunia. Seperti seawal-awal kejadian kita seperi asalnya kita tiba didunia ini. Suci, putih bersih dek kerana proses ...
Ya Allah , bila aku bace akak aku punye text tuu memang aku meraungg menangiss ! Sumpah sedihh ! Mungkin mak dah terlampau rindu aku :( So habes sume akak akak n abang aku tahu then naty abang aku suruh aku balik . nak call kredit pulak takdeee , hmm . So baru malam tadi aku pinjam fon akak aku the call mak aku tengah tengah malam pukul 12p.m ! Hm aku bukan taknak call kadang , cause aku takot takdan cakap lg dahh tetibe aku meraung -- macam malam tadi pulakk aku yang beri ria nangis . Mak aku diam jee macam tesentak . Maybe mak aku taknak tunjuk :) Okay naty ct balik k mak :) rinduuu makkkkk . okbaii SALAM ...
satu malaya kenal mereka. dari yang kecik sampaila besar. semua terhibur... suasana kampung, permainan tradisional, penerapan akhlak mulia dan berteraskan hubungan satu malaysia. namun, aku tersentuh kerana mereka membesar tanpa ibubapa. tak merasa bagaimana mengucup tangan memohon kemaafan di pagi raya... perlahan2 mereka akan terasa kekurangan tersebut apabila satu waktu nanti bila di sekolah, ada time buat karangan bertemakan keluarga saya pasti akan ada ruang kosong di situ.. Sebab itu, berdasarkan pengalaman.... aku jarang menggunakan tajuk2 yang spesifik menjurus kepada keluarga. Biasanya aku akan ubah cikit.. daripada ayah/ibu aku tukarkan kepada insan yang disayangi....ini akan memudahkan budak2 yang takde lagi ibubapa. camne dema nak ceritakan pengalaman bersama ibubapa yang mmg dah takde.... Kadang2 pengesahan satu2 borang perlukan tandatangan ibubapa dan tak ditulis penjaga maka ianya memeningkan...aku tau sebab aku pernah mengalaminya dolo.... Kadang2 aku terpaksa cerita panjang ...
biasenye org nak ajak aku pegi makan pon susah. bukan sebab saving sangat. aku suke je makan2 cume aku malas nak keluar rumah. aku suke makanan kat rumah. sebab tu masa aku sekolah dulu aku target 1st sekali ciri2 yg wajib ade pada bini aku adelah dia mesti reti memasak. keh2. so ceritenye kalo takde orang masak kat rumah, instead of ikut natang alah Daud & Wawan gi makan luar, aku akan call kedai makan Shef bawah rumah aku suruh antarkan makanan ke rumah aku. kekerapan melampau sampai kalo aku call restoran Shef tu, samada Syed yg jawab atau Ammu Naser jawab fon, derang cume akan tanye nak pizza ke crib hari ni, muhammad?. pehtu terus letak fon. derang dah tau aku mesti nak samada pizza ayam doh nipis cheese lebih dan taknak zaitun ataupon aku nak crib ayam mozarella tanpa capsicum. alamat aku derang dah hafal. yg peliknye, aku tak penah muak walaupon ngadap hampir hari2 sejak dok Sayeda ni ...
Tapi, aku seorang yang rajin study jugak lah..Sejak dari sekolah rendah aku asik mengadap buku je. Tapi, bila dah masuk boarding school aku jadi makin malas. Sebab ape? Kat boarding school, pembelajarannya sangat cepat (memang jauh beza dgn skolah biasa). So, aku tak dapat catch-up. Then, jadi x minat nak blaja sebab dah ketinggalan. Time monthly test memang aku slalu corot. Tapi, aku jenis tak putus asa. Aku suka compete. Aku akan observe setiap kawan aku -mencari kelebihan dorang & kelemahan aku. Memang benda ni will take times. 1 more thing, aku train diri aku untuk sentiasa mengambil iktibar dari setiap kegagalan yang aku hadapi. Gagal sekali tak bermakna gagal selamanya. Kalau korang pernah baca entri2 aku sebelum ni..mesti korang perasan, hidup aku penuh dengan slogan ...
hubby aku dah banyak kali suh aku ambik lesen..tapi aku mengados lebih..malas la..takut la..pendek kate berharap sgt..bgantung sangat kt hubby aku..tak bagus kan perangai cenggini..tibalah satu hari hubby aku balik dgn muke agak muram..tapi aku seperti dah dpt agak....mesti kursus lagik!!ye..ke bangkok!!malam tu aku menangis2 minta hubby jgn pegik..sian kat aku n ukail..mau tak mau akhirnya hubby aku beralah lagi utk kali yg keberapa pun aku tak pasti..dan malam tu jugak hubby aku pujuk aku utk kali yg keberapa pun aku tak pasti gak utk ambik lesen..akhirnye demi sayangkan hubby yg banyak bkorban aku beralah gak ...
semlm opis aku kene masuk pencuri...kebetulan plaks minggu nie ada kursus utk kontraktor di dewan seminar tingkat bawah...jd seperti biasa aku akan dtg awal utk menyediakan dewan seminar..sejak2 mengandung nie husband la yg membantu membuka pintu dewan..seawal jam 8.15pg aku dh smpai kt opis..bila je nak buka pintu aku dh perasan yg tombol tuh mcm dh kene kopak..bila je aku tolak pintu nampak la grill pun dh terbuka luas..husband pun suruh la aku tunggu kt bwh sementara dia pie tgk keadaan di tingkat 1..bila sah opis dh kene pecah terus aku call Kak Amy..time tuh aku dh cemas sbb bila aku masuk nampak opis berselerak..pekara pertama yg aku perasaan semua laptop dh abis kene kebas...aku pun terus call bos2 utk maklumkan yg opis dh kene pecah...lepas call bos,call plaks IPD Seremban 2...bila semua opismate aku sampai,masing2 dh kenalpasti apa brg2 yg hilang, aku, Kak Zima & Kak Siti pun pergi la buat report kt IPD Seremban 2..mmg penat aku semlm..turun naik tangga..berjalan asal nak cepat je smpai ...
10/11/12 ( 1 ) 140814 ( 1 ) 18/01/13 ( 1 ) 18/01/2014 ( 1 ) 2011 ( 1 ) 24 Tahun ( 1 ) 2org 2x tahniah..... ( 1 ) 3 Tahun ( 1 ) Abang Operation ( 1 ) Abg Chik.. ( 7 ) Accident...17/3/10 ( 2 ) Adik Eddy nikah ( 1 ) Adik Sepupu Aku..... ( 2 ) Ajar Matematik ( 1 ) Aku pon nak citer raya gak ( 11 ) Aku sakit ( 1 ) Aku..Ular dan Tikus.... ( 2 ) Allah... ( 1 ) anak anak kami ( 1 ) Anak omot ( 1 ) Anak Salmah ( 1 ) anak-anak.. ( 6 ) anak.. ( 2 ) Aning RIP ( 1 ) Arwah Ayah.. ( 1 ) awal 2014 ( 1 ) Ayam hutan+kebun mak.. ( 4 ) baju raya anak2 2013 ( 1 ) Banjir 261209 ( 2 ) Batu Sembang ( 1 ) Bday Kakak ( 1 ) bekal zati yana ( 1 ) Bercuti...Janda Baik... ( 2 ) Berenang ( 1 ) Besday 2012 ( 1 ) Birhtday Suami Aku..... ( 3 ) Birtday Zati 18/01/2009 ( 4 ) Birthday kakak ( 5 ) Birthday My Girl...c kecik.. ( 4 ) Bola RRI 30/31/1/10 ( 1 ) Bola RRI....2/1/10 ( 1 ) Bolasepak Kg.... ( 5 ) Bonus 2014 ( 1 ) Buat Member Blog ( 1 ) Bulan puasa buka ( 4 ) Candat sotong ( 1 ) Celebrate Besday Ali Panjang ( 1 ) Cerita Aku ( ...
entry kali neh mmg agak sedih..bcoz i just lost my bestie..dya kwn yg sgt super duper hebat n aku xpnah nyesal kwn ngn dya... but lately..kami gadoh..can u imagine dah 7 taun kami kawan..aku x pnh niat buruk dgn dya...sntiasa tolong dya..tp suatu hari dya antr msg AKU XKAN MNX TOLONG ANG LG...sbb dya kata aku pnyebab dya n pkwe dya brgduh sampai sebot hang aku..apa perasaan hampa law hmpa ckp bek2 tiba 2 owg tdoh mcm tu..sakit kan..sbb jntn ja dya mmpu kuarkan prkataan mcm tu..yess,,,shes already mnx maaf...ayat dya bila aku tow tntg msg yg ang antq kat tutttttt...bwu aku mnx maap..so means that ang xpcaya la aku neh bniat nak tolong ang..tp anggap aku brukkn ang depan marka ang..pless la weh...aku pown ada perasaan..tarak la busuk sgt hati aku neh..tp xkan tep2 kli maw mnx maaf..maaf is just not good enuf..aku pown trlanjur ptoskan hbngn kami..then regret take a place on me..aku pown cuba bebek dgn syrt aku xmo dah msok cmpur urusan pribadi dya..out of sudden dya antq msg yg dya pown mls ...
Masuk bulan Februari 2011,pada 3 hb (Tahun Baru Cina) aku pi la ambil darah di klinik lakiku untuk ujian hormon hari ke 21....Lepas tu, aku menses lagi (ye ye ye) pada 17 hb,tapi kali nie lamanya sampai 13 hari dan betul2 mcm org tumpah darah...sehari aku kena tukar 3 pad yang bertaraf NIGHTMAXI...aku jadi takut la plak,tp my mom cakap mungkin hormon mau kembali stabil jadi dia keluar dgn byknya...aku redha jak..tapi sebelum tu,masa hari ke 2 period,aku telah pun selamat mengambil darah utk ujian hormon....dalam masa yg sama aku mula demam dan batuk selsema...23 Mac barulah period aku habis dan aku rasa bersyukur sgt...tp mula jak period aku abis,aku mula susah tidur malam....bkn sebab byk nak difikir tp badanku nda selesa...mcm ada yg nda kena di dalam badan...tiap mlm klu aku masuk tidur pkl 11,pkl 3 pagi baru aku dpt tidur selepas dgn aktifnya berpusing ke kiri dan kekanan...lakiku relaks jak tidur...tiap kali bagn pagi mesti badan aku panas mcm org demam ...
Sebab tu bila aku nak cari rumah sewa, aku cari yang ada tulis MYOB, aku tak pandang pada friendly roommate. Bukan sombong, tapi kau bayangkan. Kalau dah nama pun friendly, beli beras mesti nak sama2. Karang, beras yang aku makan lebih sebutir, atau sawi aku makan lebih sehelai, aku takut kau kata aku mengelat. Jadi kau beli beras wangi kau, aku beli beras budget faiza aku. Tak pernah cemburu aku lihat kau makan. Tak pernah peduli andai kau kata aku kedana. Tapi, kalau kau nak mintakkan aku beli dinner kau kat mamak, on the way balik, aku on je. Janji bayar balik. Sebab gaji aku bukan nak penuhkan tembolok kau, bukan nak kenyangkan perut kau, bukan nak bagi kau melepas hari2 ...
aku bukan nak control makan aku,, tapi serious,, nafsu makan da tak macam dulu.. yela.. law fikir fikir,, takot gak la kan.. kenapa la tiba tiba takde selera makan.. kalau makan pon,, sikit je,, aku start sakit pedih ulu hati since bulan lepas.. lepas ibu n papa anta aku kat uthm.. masa tu aku baru lepas makan kot.. pas ibu 10 minit ibu balik dari uthm, aku terus rasa sakit kat ulu hati,, nak call ibu,, kesian lak,, takkan nak suruh diorang patah balik,, then,, masa tu alhamdulillah la kan,, amir datang pewira n buy me 3 gaviscon untuk melegakan sakit ni,, thak you so much amir!! so, aku agak kompius la kan kat sini,, nak kata aku tak makan, aku da makan,, tapi still sakit.. masa kat plkn dulu pon penah jadi mcm ni.. smpai pergi klinik under kem.. dapat ubat mende ntah.. jurulatih aku sampai ckp muke aku merah tahan sakit.. aku tataw la muke aku jadi merah mcm mana kan,, itam jek aku tgk muke aq T____ ...
ok,cuti panjang minggu lepas aku bercuti ke langkawi lagi..kali ni aku g ngn kuarge mertua aku..cite psl tasik dyg bunting...mase aku g ngn hubby celebrate 2st anniversary thn lepas,aku xberkesempatan mandi kat situ..cuma rendam kaki n basuh muka jer....tapi kali ni aku dpt berendam dlm tasik tu...mak pak mertua aku byk kali igtkan aku suh minum air tasik tu..yelah kuasa tuhan kita tak tau kan...sambil meyelam aku minum air...byk kali gak lar..aku pun suh hubby minum gak...mak kate bila dah minum tu kita doa byk2 n tawakal jer..tu semua keje dia....kita hanya berusaha....rase cam kejap jer dpt berendam dlm tasik tu...sebelum aku blk sempat amik air tasik tu isi dlm botol mineral...terkejut gak bila aku dah amik,aku tgk air dlm botol tu xkotor langsung...malah putih jernih...mcm air mineral yg baru kita beli...aku simpan air tu..smpai bw balik kl tu...hehe....rase air tu mcm payau skit..alar,mcm rase air zamzam tu skit ...
Anak aku demam.. Aku susah hati.. Tak boleh nak berenggang sket, dia nangis.. Tido pun nak tido atas badan aku.. Malam pertama demam, badan sangat panas.. Aku selimutkan dia dengan kain lampin basah, pastu letak sapu tangan basah atas kepala.. Tido nak kene peluk.. Takpela, berkorban la sket untuk anak.. Aku pun badan tak sihat.. Dugaan betul.. Aku tak bape blh tido sangat, sket2 tengok anak aku.. Basahkan tuala.. Esoknya pegi klinik, dktr cuma bagi ubat demam.. Ubat tu cuma membantu sekejap je pastu demam semula, dktr cuma cakap kalau demam lagi dalam masa 3 hari datang semula.. Kali nie aku takkan bawa dia ke klinik tu lagi.. Aku nak bawa pegi hosp.. Aku takut kalau-kalau demam sebab lain.. Aku risau nie... Anak aku demam nak beralih bulan ke, nak tumbuh gigi lagi ke atau pun sebab dah nak lasak, nak pandai bertatih? Aku confuse niehhhh...Dahla nie 1st time dia betul2 demam macam nie.. Sebelum nie tak pernah demam.. Kesian betul kat dia.. Makan pun nak tak nak.. Aku bagi minum air masak ...
Ha ok. Sambung blk cite , pada hari raya kedua mcm biasela aku bangun pagi. And mcm biase jugak mama yg jerit panggil suh bgn. haha Aku tlupe plak aku tdo kt kmpg. Almaklumla pg2 tu sedap je tdo dgn sejuknye and slimut tebalnye. Aku plak main tarik2 slimut dgn cazen aku , Aween. Aku tarik die tarik aku tarik dia tarik. Haha hamboi kaw kemain! haha. Bangun2 je aku da tbau nasi goreng and cekodok ikan bilis. Ha dgn xbasuh muke & xgosok giginye aku terus naik ats pangkin kt lua umah makcik aku and terus senduk nasi. Haha xsenonoh punye ank dare ! Dgn baju tdo slamber je mkn. haha terukkan? hehe tapi aku da biase. Macam tu la aku kalau balik kmpg. Mmg layan gile mkn kt ats pangkin kt lua dgn environment kampung yg tenang. Haih bertambah nasi. haha. Tak cukup dgn nasi aku bantai cekodok cecah dgn sambal sardin plak. Pergh ! ditambah pulak dgn air teh o panas. Double Pergh !!!!!!!! hahaha layang ! Sambil mkn mcm biasela berborak2. Blh plak mlm tu sdare aku dga ade pmpuan menangis tgh2 mlm kt lua. Ha ...
Hari esoknya aku melihat ayah aku tidak larat untuk bangun dari tilamnya.Pening kepala,badan Seram sejuk,kaki kebas dan sakit pinggang sehinggakan tidak boleh bergerak.Aku membawa ayah aku ke klinik di pekan.Doktor memberi ubat demam beserta dengan injection.Doktor yang handsome mengatakan ia demam biasa.Pada 2 hari selepas itu demam masih belum surut.Aku kembali membawa ayah aku ke klinik untuk Injection kali kedua.Doktor suspek demam cikunya..Sebab ia mengatakan ramai orang kampung aku mengadu sakit yang sama..Ah sudah..aku katakan..Penyakit apakah ini..hari demi hari,sudah lebih seminggu aku lihat ayah aku terlantar..kenapa tidak baik-baik demamni?..Doktor bagi salah ubat ker..hatiku berdetik.. Lastly,Ayah aku diberikan injection kali ketiga dan diikuti makan sup ketam dan meminum 100plus..alhamdulilah..nampak ada perubahan.. Sekarangni telah 2 minggu berlalu tetapi ayah aku masih mengadu sakit pada urat saraf pinggang..Tetapi ayah aku kuatkan semangat..dia melawan balik demam chikunya ...
smalam tepat 9 pagi aku sampai kat hspital n trus g jabatan dermatology...nama ku dpanggil...die bg satu cebisan kertas yg ttulis nama aku dah perkataan BIOPSY !! seriau aku bse coretan tersebut..nurse tu pesan...nnt naek atas tingkat 2, buat biopsy..sepangjang perjalanan tuh aku tersengih aje mcm kerang busuk..mak sampai tegur aku..nape lah sewel bebenor anak die ni..aku kte ler..mak akak sengih bkan sbb nurse laki tu hensem mak..tp akak sengih sbb takot ya amat...bangun duduk bangun duduk aku..ta reti duduk diam...mak yg mse sahur td makan ubat batuk mula tesengguk..ngantuk..kadang2 kami tegelak sbb mak cerita pasal kopok lekornye yg meletop letup mcm roket...smpai ke syiling landing nyer..tringat aku kat belog kak ynaaohynaa tentang keropok lekor die yg meletop mcm cite aku..tp yg tu tak nak aku cite sbb aku ta de mse tuh...kat kolej melaka lg...tiba2 aku rse tangki aku nak pecah...alamak over tank lah ...
Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits abnormal copies from each parent (it is a recessive condition) the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over thirty years old, although the dark discoloration of the urine is present from birth. Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found ...
Synonyms: AKU, alcaptonuria; homogentisic acid oxidase deficiency; ochronosis This is an autosomal recessive condition of homogentisic acid oxidase deficiency,...
Rare, autosomal recessively inherited enzyme defect with missing or reduced activity of homogentisic acid oxidase and consequently deposition of homogentisic acid in c...
Homogentisic acid definition, an intermediate compound in the metabolism of tyrosine and of phenylalanine, found in excess in the blood and urine of persons affected with alkaptonuria. See more.
Since 2010, the section has been a training ground for world experts in the clinical aspects of cystinosis, alkaptonuria, Chediak-Higashi disease, Hermansky-Pudlak syndrome (HPS), gray platelet syndrome, Hutchinson-Gilford Progeria syndrome, GNE myopathy, albinism, autosomal recessive polycystic kidney disease, Joubert disease and other ciliopathies, and Erdheim-Chester disease. In aggregate, more than 500 patients with these very rare disorders have been evaluated in just the past five years to accrue cross-sectional and longitudinal data on the natural histories of these diseases for use in future interventional studies. Section investigators and collaborators have already obtained Food and Drug Administration approval for oral and topical cysteamine for nephropathic cystinosis. They have completed clinical trials of the TGF-beta inhibitor; pirfenidone, for the pulmonary fibrosis of HPS; and nitisinone, for the ochronosis of alkaptonuria. Nitisinone blocks the production of homogentisic acid, ...
The defects in tyrosine metabolism lead to albinism which is a group of diseases as result of deficiency in melanin. These result in either partial or full absence of pigments from the skin, eye, and hair. There may be vision defects and photophobia. This disease occurs due to deficiency of tyrosinase enzyme.. Alkaptonuria is another disease due to deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid. Patient may have homogentic aciduria, arthritis of large joints, and black pigmentation of cartilage and collagenous tissues.. Tyrosine interacts with monoamine oxidase inhibitors so patient should avoid foods containing tyrosine.. Thus, tyrosine has many beneficial effects. It supplementation is also available for the persons deficient of this amino acid. It is a useful amino acid during periods of cold, stress of any kind either emotional or physical and fatigues.. ...
Alkaptonuria (AKU) [MIM:203500]: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. {ECO:0000269,PubMed:10205262, ECO:0000269,PubMed:10340975, ECO:0000269,PubMed:10482952, ECO:0000269,PubMed:10594001, ECO:0000269,PubMed:19862842, ECO:0000269,PubMed:21437689, ECO:0000269,PubMed:23353776, ECO:0000269,PubMed:23430897, ECO:0000269,PubMed:25681086, ECO:0000269,PubMed:8782815, ECO:0000269,PubMed:9154114, ECO:0000269,PubMed:9529363, ECO:0000269,PubMed:9630082}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients ...
Azam tahun baru?? Aku tak penah berazam dan ada azam... should i?? Tapi aku ada impian. Impian yang aku tak tahu dah berapa tahun aku idamkan dan pendamkan..... agak2 tahun nie berjaya ker aku nak realisasikan impian aku. Entahlah..... apa impian aku??? Macam-macam...tapi yang paling-paling utama.....aku nak financial freedom!!! Bila la boleh merasa ye tak?? Umur dah nak masuk 32..... rutin hidup hari2...dok tunggu gaji masuk....masuk hari nie esok langsai..... camno??? Kalau dapat duit terpijak kan best.....ekekekeke mimpi laaaaa..... so bila aku berimpian nak financial freedom nie....mula la aku mengidamkan sebuah business. Last year memang jatuh merudum mood aku nak berbisnes...mungkin tahun 2007 macam2 peristiwa pahit manis yang berlaku dalam hidup aku buatkan aku kureng berazam nak majukan business aku sendiri. ...
For AKU patients, the most relevant network is the one focusing on Rare connective tissue and musculoskeletal diseases. The National AKU Centre (NAC) in Liverpool has applied to become part of the clinical network, and the AKU Society as part of the patient group network.. The idea behind networks is to help identify and correctly treat patients with rare diseases in Europe. For example, if the NAC was part of an ERN, then patients diagnosed with AKU anywhere in Europe would be referred to the NAC for advice. The NAC could then help local doctors provide the best care for their patients.. Eurordis have more information about ERNs at http://www.eurordis.org/content/getting-ready-erns and ePAGs at http://www.eurordis.org/content/epags. Rare Diseases International. Rare Diseases International is a new initiative led by Eurordis and supported by several other international rare disease groups. Their goal is to unite rare disease patients worldwide, and demonstrate that rare diseases is a global ...
POZOR dalam erti kata laen bermaksud berhati-hati atau perhatian...Tujuan aku menulis untaian kata-kata di sisi blog aku ni adalah untuk menjelaskan sebab kewujudan blog ini berserta amaran keras untuk semua pengemar blog yang sudi membaca isi kandungan blog aku ini.. Sememangnya sejak azali tidak aku berniat untuk terlalu serius dalam menulis disini, tidak pernah juga aku menjanjikan hasil penulisan yang bermanfaat buat kamu-kamu, mahupun nukilan yang mampu membuatkan kamu-kamu gembira/terhibur... Aku hanya menulis perkara yang aku suka kerana aku tidak pernah peduli dan ambil tahu apa yang kamu-kamu suka.. mungkin berlaku banyak khilaf dan kelemahan dari segi isi kandungan blog ini, semuanya dek kekurangan diri ini.. Blogging atau menulis blog ini hanyalah satu wadah untuk aku melampiaskan isi hatiku, tidak juga 100% perasaanku dicurah disini,namun cukuplah secebis-dua..cukup sekadar aku puas dan lega... Jadi aku tidak memaksa kalian-kalian untuk membaca segala yang aku post disini kerana ...
POZOR dalam erti kata laen bermaksud berhati-hati atau perhatian...Tujuan aku menulis untaian kata-kata di sisi blog aku ni adalah untuk menjelaskan sebab kewujudan blog ini berserta amaran keras untuk semua pengemar blog yang sudi membaca isi kandungan blog aku ini.. Sememangnya sejak azali tidak aku berniat untuk terlalu serius dalam menulis disini, tidak pernah juga aku menjanjikan hasil penulisan yang bermanfaat buat kamu-kamu, mahupun nukilan yang mampu membuatkan kamu-kamu gembira/terhibur... Aku hanya menulis perkara yang aku suka kerana aku tidak pernah peduli dan ambil tahu apa yang kamu-kamu suka.. mungkin berlaku banyak khilaf dan kelemahan dari segi isi kandungan blog ini, semuanya dek kekurangan diri ini.. Blogging atau menulis blog ini hanyalah satu wadah untuk aku melampiaskan isi hatiku, tidak juga 100% perasaanku dicurah disini,namun cukuplah secebis-dua..cukup sekadar aku puas dan lega... Jadi aku tidak memaksa kalian-kalian untuk membaca segala yang aku post disini kerana ...
Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria, a metabolic disorder. Additionally, ochronosis can occasionally occur from exposure to various substances such as phenol, trinitrophenol, resorcinol, mercury, picric acid, benzene, hydroquinone, and antimal...
Get an overview of the disorders of carbohydrate metabolism and amino acid metabolism and learn more about glycogen storage disease, GALT deficiency, phenylketonuria, homocystinuria, and alkaptonuria. Glycogen storage diseases ✓, galactosemia ✓, hereditary fructose intolerance ✓. Read more!
Urine is a liquid by- product of metabolism in humans and in many animals. This medicine may interact with other drugs or health problems. Find patient medical information for Urin DS Oral on WebMD including its uses, side effects and safety, interactions, pictures, warnings and user ratings. Urină din osteoartrități. Urobilinogen is formed from the breakdown of bilirubin in the intestines and passed to the liver and. De/ shop/ adlerssonpictures grundlos Spenden paypal. Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. Tell your doctor and pharmacist about all of your. What Are the Normal Levels of Urobilinogen in Urine? Urine flows from the kidneys through the ureters to the urinary bladder. Urin D/ S Interactions Avoid taking an antacid or anti- diarrhea medicine within 1 hour before or after you take hyoscyamine, methenamine, methylene blue, phenyl salicylate, and sodium biphosphate. In ...
Ive had super dark urine almost dark brown since starting the Asacol. Theyve done all sorts of kidney tests and urine tests but of course I dont have the dark urine when they need to test it. It comes and goes I find I need to drink a ton of water. Has anyone else had the dark urine from it. One site I found said its from the dark coating and late break down of the pill. I just sort of feel nervous everytime I see the dark urine. Thanks a bunch, ...
Ok, untuk entry yang pertama pasal Perth, aku cerita apa yang aku bawak je la. Sebab yang lain-lain memang aku clueless. Nasib baik la bukan suami yang kemaskan barang, aku bawak diri je. Lagi teruk! Haha. So, kami pergi end of May. Google cakap time ni baru je nak habis autumn, baru nak start musim sejuk. So. suhu paling rendah pun dalam 10 degree celcius saja. So, aku bawa pakaian biasa macam jeans, tshirt, stoking, telekung. Dress tak payah la, nanti masuk angin, sejukkkk!! Just bawak spare satu jacket. Tak perlu winter coat or trench coat pun kalau tak ada. Aku bawak satu winter coat yang tak berapa tebal pun. Just nice untuk weather masa tu. Coat yang aku baru beli online, murah je, tak sampai ratus-ratus pun, RM70 kot tak silap aku. Dah la comel juga. Kalau pandai cari, mesti jumpa punya. Apatah lagi, online shopper tegar macam aku, wajib jumpa. Si dia tegur, lawa coat? Mesti mahal ni. HAHA. Mahal lah sangat! Setakat nak bagai 2-3 hari, pastu tersadai dalam almari, tak perlu rasanya yang ...
procedure admit wad tu macam biasa la. disebabkan wad o&g memang selalu penuh, lambat aku dapat katil. dia suruh datang tengahari. lepas tu dia suruh balik dulu sebab katil takde. kul 5+ baru dia call suh datang hehehe. pastu bila aku kata aku lambat sikit sebab nak tunggu suami balik ambik, pastu saya jauh sikit nak sampai dia plak marah aku hahaha. dah tu nak buat cemana, laki aku tak cuti. kenala tunggu dia habis keja. lepas tu rumah kitorang dengan putrajaya dalam 40minit jugak kalau tak jem. ni waktu orang balik kerja, paham-paham jela kan. aku buat bodoh je, sampai-sampai terus pergi kaunter, dia suruh naik atas terus. doktor cucuk nak pasang branula, gagal. nak marah, kesian sebab memang urat aku halus. kena betul-betul cekap baru senang haha. doktor baru, aku izinkan atas sebab dia nak belajar. sakit pun sakitlah. dia cuba sekali je, pastu gagal dia tak buat dah sebab sebelum tu dia dah cucuk aku dua kali untuk amik darah gagal jugak hahaha. kali kedua cucuk, barulah dapat darah sikit. ...
its time to reveal. entah pape kan? HAHA dah orang pun tahu, baru nak reveal. yela, alhamdulillah, aku dah selamat, baru laa aku rase ade kekuatan nak cerita kat semua orang. its OVARIAN CYST. tapi dah takde pun. CYST nye dah di remove kan, dan aku tengah mengadap laptop ni haa depan parents aku,, for the first time. dekat meja makan. boleh kau buat? hehe. benda jadi terlalu cepat, aku buat checkup dalam masa dua minggu terus buat operation. aku sendiri susah nak terima benda yang TIBA-TIBA jadi ni. thats why aku cerita kat certain orang je. orang yang aku rapat. so its okayy kalo ade yang tak tahu pun. jangan rase bersalah, itu sume my bad. aku mintak maaf sebab tak inform ...
Adelia dah xpakai sarung tangan dan stoking start hari ke55..now dia dah umur 63hari.Kira baru sangat lagi la aku xbagi dia pakai sarung tangan dgn stoking. Tapi waktu malam aku memang bagi adelia pakai stoking.sebab sejuk.tangan memang siang malam aku biarkan ja. Sebenarnya sampai bila nak pakaikan sarung tangan dan stoking nie??.. Aku ada sms doktor yang aku kenal.aku tanya pasal sampai bila nak bagi adelia pakai sarung tangan..dgn stoking. So dia advise aku..aku tulis based pada apa yang aku paham. Seeloknya,pakaikan sarung tangan sampai umur 1bulan sahaja.sebab masa umur 1bulan++ baby dia akan start sedar yang dia ada tangan..ada jari..ada kaki..dia akan cuba explore tangan dengan jari dia..sebab tu kita tengok baby start nak cuba hisap jari. Kalau kita pakaikan sarung tangan,baby akan terbatas.pergerakan jari dia terbatas.cuba tengok bila baby kita xpakaikan sarung tangan.. Jari dia melilau meratakan..hehe..macam adelia,dia nak isap ibu jari sampai jari lain masuk hi ...
Herba tumbuhan ini telah diperkenalkan oleh seorang sahabat kepada aku. Katanya ubat ini boleh melancarkan peredaran darah. So, aku tryla cari kat farmasi dilabuan ni..dan aku jumpala produk yg di bawah ni. Harganya RM50 dan ada 100 biji tablet. Di mana sehari 3 kali makan,1biji sekali ...
dan mase aku balik kg aritu sempat aku luangkan masa sekejap untuk melawat ena di rumahnya..dekat jer ngan rumah aku kt jelawat tu jer..huhuhu..setelah agak lame xjumpe ena, ni lah baru kami berjumpe kembali..dahlah masa dia kawin aritu aku x dapat pegi, jumpe2 lak dh dpt baby..hehe..mase aku pegi danish sedang tidur tapi sepanjang2 aku kat situ, danish langsung la xhiraukan org di sekeliling...asyik tidur memanjang..macam2 yg aku buat utk sedarkan danish tp dia tetap mcm tu gak...orang bergambar pun tido, orang gelak pun dia tido sampai aku nk balik pun dia tetap tido jugak...hmm nasib la ila xdpt tengok danish bukak mata..hehe ...
Prepare for AKU entry test online. Save time, energy and money. Online AKU preparation using modern teaching methodologies, video lectures, MCQs, practice exams, past papers.
Doctors give trusted, helpful answers on causes, diagnosis, symptoms, treatment, and more: Dr. Khorsandi on what are some causes of dark urine pain: Several causes of dark urine inlcude blood or blood clots, infections, inflammation of the urinary tract, trauma, kidney stones, and cancer. Dark urine should be evaluated to determine the presence of any of the findings for appropriate treatment.
The aim of the study was to determine the frequency and age-dependency of adrenal changes in dogs and cats, which were dissected between 2004 and 2006 at the Institute of Veterinary Pathology, LMU Munich. The adrenal glands of 101 dogs and 159 cats were dissected free from adjacent tissue, weighed, lamellated perpendicular to its longitudinal axis and were embedded in paraffin and plastic for histologic inspection. Ageing cats most frequently showed accessory cortical nodules in the capsule, cortex and medulla, pigment deposition and shock bodies. The appearance of accessory cortical nodules and pigment deposition were linked to the age of the cats and that of shock bodies was linked to infectious diseases. Inflammatory alterations were rare and neoplastic changes were not observed. In dogs, the most frequent alterations were accessory cortical nodules in the capsule, cortex and medulla and circulatory disturbances and there was a significant linkage of the appearance of cortical nodules
p,Fulamak...mmg gempak gila la features samsung sIII ni...as samsung user mmg aku terkesima bila tgk dis phone....trully smart n intelligence phone...wut i lioke about samsung is d features n d service after sales which is trully great!like mine the nenek version of samsung sIII...which is samsung sl only...da brpa kali wat hal...first2 software crash...pastu board wat hal...n latest aku punya screen wat hal....n pling bestnya bru ja dpt blik mcm newborn...tpi segala data aku xilang la....weee....sbb just tukaq screen ja...tpi.....kena la beli yg original warranty from samsung ya..bukan AP set ya...bygkan kunun nk seppp seratus dua...tpi kalau jdi mcm kes aku ni naya ja kena tukaq screen la board la...bukan nk kata brg samsung tu byk defect...aku rsa tak...ni punca nya aku la jgk...pkai glove penuh ngn chemical kt lab tu pun selamba ja sretttt touch screen...mau x lingkup saja la...nsib depa foc ja...muahahhaha....tpi kalau warranty sl aku ni da abeh n fon ni wat hal ker...mmg come to mama la ...
2nd pregancy (1) 2nd pregnancy (17) 3rd pregnancy (55) Adeeb Ridzqin (44) Adilynn (3) ain (106) Ain darwisyah (1) airasia (10) aku (423) aku.family (14) aku.merepek meroyan (2) aku.sedih (2) aku.sentap (3) astana idaman (12) award (3) besday (4) Birthday (3) blogger (8) bonda (1) boss (1) Cluster8 (1) Confinement (1) confinement journey (7) Corelle (1) cute thing to share (13) Dah tua aku nih (7) emosi (62) emosi terganggu (56) en papa (34) event (4) family (106) Family time (1) gadget (3) happiness (82) happy new year (13) help (2) IKEA (6) Iklan (3) im thinking..my wish list (24) info (37) invitation (1) JB (3) JJCM (1) kehilangan (9) Kenangan (1) kerjaya (15) kesakitan (120) KUCHING (5) lawak (3) leisure moment (1) leisure moment (67) leisure time (10) lohkong (3) loss (1) m (1) Mama (1) memori (4) Mentaliliti (1) merepek meroyan (194) merepek-meroyan (1) MIL (17) MIL.Aku (1) mommy stuff (7) Moneys matter (1) muhasabah diri (10) Musibah (1) My mom (1) my mother (15) myself with auni (152) ...
sampai masanya dia berdiri n aku dengar dia baca bismillah.dia try tarik gigi aku keluar patu aku jerit sakit docdia kata sikit baru dia tekan..huhu diapun kataooo u punya gg memang tengah sakit cket n akan countinue sakit selagi tak buang..dia minta aku tahan sikit..kalaulah dulu aku cabut sebelum sakit,mesti takkan rasa sakit masa ditarik.pastu doc bagi lagi 1 dos bius baekk nyer sampai dalam gusi...so aku tahan nafas.diapun mulakan mencuba tarik lagi.masa tarik aku baca doa nabi yunus..la ilahailla anta subahana inni kuntu minal zalimin n sebut Allahuakbar dalam hati..sekali lalu sakit bagai taufan!!dah selamat kuar gigi..rasanya taklah terlalu teruk..alhamdulillh.. ...
sampai masanya dia berdiri n aku dengar dia baca bismillah.dia try tarik gigi aku keluar patu aku jerit sakit docdia kata sikit baru dia tekan..huhu diapun kataooo u punya gg memang tengah sakit cket n akan countinue sakit selagi tak buang..dia minta aku tahan sikit..kalaulah dulu aku cabut sebelum sakit,mesti takkan rasa sakit masa ditarik.pastu doc bagi lagi 1 dos bius baekk nyer sampai dalam gusi...so aku tahan nafas.diapun mulakan mencuba tarik lagi.masa tarik aku baca doa nabi yunus..la ilahailla anta subahana inni kuntu minal zalimin n sebut Allahuakbar dalam hati..sekali lalu sakit bagai taufan!!dah selamat kuar gigi..rasanya taklah terlalu teruk..alhamdulillh.. ...
Hari ini nak share satu ilmu baru. Ilmu dan tips untuk mendapatkan anak. Tapi, perlu diingatkan bahawa aku tak pernah cuba cara ni. sebab tu aku kate ilmu baru. aku dapat ni pon sebab follow blog Dr Hamid Arshad.. aku paste sini untuk rujukan masa depan aku, walaupon sekarang dah ada salman, sesetengah orang berpendapat kalau dah lekat, nanti senang dah nak pregnant. aku tetap masih mencari ilmu-ilmu dan tips-tips sebegini. Allah je yang tau rezeki aku nanti camne kan, senang ke susah nak dapat adik salman.. Boleh klik linknya di sini yerk.. Untuk rujukan rakan-rakan TTC yang masih berusaha. semoga termakbul hajat kawan-kawan semua ...
Pagi Khamis yang indah dan ceria. Sungguh mendamaikan udara pagi ni. Aku terjaga seawal jam 5 pagi dan takleh tido balik. Pak Nit Jr sedang lena diulit mimpi. Sure dia puashati dapat cakap dengan Adik Angah dia malam tadi dan dapat tengok abah perform live lagu fevret dia malam tadi (tapi bukan La Bodega punyer version, our bedrum version jek + de capo). Ibu lak dah start ketung ketang kat bilik sebelah menyiapkan apa2 yang patut untuk gi kerja satgi. Capai towel, pulas shower n bersiram. Pack n go to werk la geng! Aku teruskan rutin biasa terjah NKVE, heading to Bangsar dan swing balik thru Jln Sentul untuk ke opis aku. Sampai opis - wow! baru kol 7.41 pagi. Awal beb aku hari ni. Seb baik gak la belum ada roadblock lagik kat tol Jalan Duta tu. Kalo tak memang merah la punch kad aku pagi ni. As usual, masuk opis jek dan ada menda-menda yg ditinggalkan dalam tray. Maklumlah, hari ni turn boss aku gi Melaka jumpa bini muda dia kan..hahahahaaa - KK!! 8.30 pagi, Zam Tupai call aku dan as usual kalo ...
yeehaaa...sonot lagi..berfamily day..aku nk story pasl family day OUM..hoh..ape tuh? hehe..open uni ler..actually sabtu tu register day utk new sem aku..n aku ade class hr tu..tp dgn selamba kodok aku ponteng..inila student cemerlang..1st day dh ponteng..ekeke:D tp seb bek jgk aku ponteng..sbbnya aku xjadi amik subjek tuh...so xrugi la aku ponteng kan diri utk g family day tu kan..yeehaaaa:p ...
Memandangkan aku tak ada cerita nak update kat blog aku ni, jadi aku buat keputusan untuk review blog blogger lain. Okay, terus terang aku nak kata yang sebenarnya aku tak pandai sangat nak review ni. Tapi tak apa, aku cuba dengan Blog Bicara Makan dulu. Sebab apa?Sebabnya aku juga suka makan..hehehe ...
BOSCH 18V 2-Tool Combo Kit with 1/2 in. Errors will be corrected where discovered, and Lowes reserves the right to revoke any stated offer and to correct any errors, inaccuracies or omissions including after an order has been submitted. GBH18V-26DK24 + FREE GDE18V-26DB15 18V EC Brushless SDS-plus® Bulldog™ 1 In. BOSCH 5Tool kit 18V aku sada nářadí - aku combo sada nářadí 18 V - 5 druhů nářadí, 3x aku 4,0 Ah, montážní brašna. Current slide {CURRENT_SLIDE} of {TOTAL_SLIDES}- Best Selling in Cordless Drills. BOSCH 5Tool kit 18V aku sada nářadí - aku combo sada nářadí 18 V - 5 druhů nářadí, 3x aku 4,0 Ah, montážní brašna. This kit features the Freak - the GDX18V-1600 two-in-one bit/socket impact driver, with a chuck that has a 1/4 In. Compact Drill/Driver and 1/4 in. KMS 5 Star Power Tool Advantage Plan: We add one FREE extra year of … of impact energy for professional applications, Robust rotary hammer system - produces 0-4,550 no-load bpm and 0-1,800 no-load ...
http://mrmanager.blogspot.com. I felt so honoured because he actually dropped by my blog!! wheew...im just a new kid on the BLOG...that posts many craps (interesting CRAPS i guessed) and the famous mr manager and well known blogger actually dropped by my blog!! not just that, remember the previous post bout the Chicken Ala Carte tuu....Mr Vern actually blogged bout that...happy gile...(maybe some of u may think that im over-reacting....but ADE AKU KESAH?? aku mmg OVER The PAGAR pon...) THANX Mr. Vernon!!. Some people may not know whos Mr. Manager....(maybe sebab org tu tinggal dlm gua or just dumb about the entertainment industry) inilah Mr Manager..or the real name is Vernon Kedit-Jolly...i followed his blog for quite some time...and rasenye macam hes the only artiste manager yang mesra alam...his blog inspires me ;) rase macam nak sangat jumpe die..maybe one fine day kot...hermm.... ...
Member cina aku yg paling rapat time skolah dulu. dia aku ngn Wan Sama. minat wrestling. dia paling suka Wwrestler nama Carlito, ngn tagline carlito pun dia suka. Thats Cool.Lim duduk sebelah aku dlm klas so ble bayangkan r kan cmna aku rasa bila dia dah meninggal. dia meninggal 2 bulan seblom SPM. xdak sakit pa2 kecuali kesukaran bernafas. day goes by as an ordinary day, dia xmai clas so kami suma just aspect yg dia saja2 ponteng skolah r. pastu petang ckit cikgu Faw datang kat clas kami gitau yg Lim dah xdak dah. bayangkan camna kami rasa. actually malam seblom dia meninggal tuh dia ada text ngn member aku yg sorang lagi, Dayat. diorang texts besa2 ja dulu, pastu Lim mintak tolong Dayat setel duit clas yg dia xbayaq di, RM1.tuptup, dia dah ninggal. time tu bulan posa. kami suma satu clas wat trip ke funeral dia.seriesly sedih dowh. kan chinese time dah mati akan gantung gambaq org yg mati kan, so the moment kami suma sampai kat funeral lim tu aku nangis gila2 babi punya bila tgk gmbaq LIm yg ...
Member cina aku yg paling rapat time skolah dulu. dia aku ngn Wan Sama. minat wrestling. dia paling suka Wwrestler nama Carlito, ngn tagline carlito pun dia suka. Thats Cool.Lim duduk sebelah aku dlm klas so ble bayangkan r kan cmna aku rasa bila dia dah meninggal. dia meninggal 2 bulan seblom SPM. xdak sakit pa2 kecuali kesukaran bernafas. day goes by as an ordinary day, dia xmai clas so kami suma just aspect yg dia saja2 ponteng skolah r. pastu petang ckit cikgu Faw datang kat clas kami gitau yg Lim dah xdak dah. bayangkan camna kami rasa. actually malam seblom dia meninggal tuh dia ada text ngn member aku yg sorang lagi, Dayat. diorang texts besa2 ja dulu, pastu Lim mintak tolong Dayat setel duit clas yg dia xbayaq di, RM1.tuptup, dia dah ninggal. time tu bulan posa. kami suma satu clas wat trip ke funeral dia.seriesly sedih dowh. kan chinese time dah mati akan gantung gambaq org yg mati kan, so the moment kami suma sampai kat funeral lim tu aku nangis gila2 babi punya bila tgk gmbaq LIm yg ...
Selamat malam! Hari ini adalah hari terakhir dari long weekend perayaan imlek tanggal 12 kemarin. Besok kita akan mulai bekerja seperti normal. Atau seperti new normal. Atau.. seperti not-so-new normal? Benar. Kata-kata normal itu rasanya udah bergeser yah, setelah terhitung kurang lebih setahun kita hidup di dalam situasi pandemi. Banyak hal yang berubah, terlalu banyak sampai aku mau bertanya : Apa sih yang masih sama? Kali ini yang mau aku ceritakan tentang hal yang tidak lagi sama adalah Sosial Media. Kalau kita berkaca ke 10, 5 atau malah 2 tahun yang lalu, habit bersosial media kita sudah beergeeseerr jauhhh rasanya. How I was on Social Media.. Aku pertama kali main sosmed sekitar........ 12 tahun yang lalu? Wah, kayak lama, ya. Sosmed yang pertama kali aku pakai yaitu friendster. Hahahaha. Tapi, karena waktu itu aku masih SD, aku enggak paham sama sekali cara kerja sosmed, jadi mungkin yang bisa terhitung pengalamanku bermain dan paham sosmed ...
Alhamdulillah esoknya aku dah boleh bgn n mandi sendri. Tp kene hati2 la sebab masih ada cam tiub lagi kat leher aku. Mende tu (macam bekas tertutup bentuk bulat) untuk biakan nanah or lendir tu keluar. Lepas operate smalam tu, Dr Sahrir ada datang explain pasal operation tu. Die kate masa tgh nak buang cyst tu, tetibe nanah keluar kat situ. Patotla aku sakit, sbab dah ada infection. Die kate die dah buang bersihkan dah area situ. So tak perlu risau, lepas ni dah tak sakit. Sehari lepas tu, nurse datang utk bukak luka. Seram sejuk sekali lg aku. Sibaik la dorang ni buat lembut je, so takde la aku sakit. Lepas bukak, dorang bersihkan luka n kate Kak, kami nak tarik sket benang ni, nak tutup lubang yg terbuka ni ye. Adoi ye ke..ha ok2 (dlm hati kecut) ...
Terkini. Aku kemas bilik kerja aku. Aku pindahkan komputer dan alatan-alatan ke suatu sudut di dalam master bedroom. Bilik kerja sedia ada aku nak hand-over kepada anak aku. Anak-anak dah mula besar, nak latih dorang tidur asing-asing lelaki perempuan ...
Anonymous (18 March 2016). "Alkaptonuria". Retrieved 17 April 2018. Garrod AE (1902). "The incidence of alkaptonuria: a study ... Alkaptonuria is a rare disease; it occurs in one in 250,000 people, but is more common in Slovakia and the Dominican Republic.[ ... Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2 ... Alkaptonuria does not appear to affect life expectancy, although the latest study on the topic is from 1985. The main impact is ...
Pentosuria, albinism, cystinuria, alkaptonuria. Archibald E. Garrod. Inborn Errors of Metabolism: The Croonian Lectures ... The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria. Trick to learn PACA ...
Alkaptonuria is a genetic disease that results in a deficiency of homogentisate 1,2-dioxygenase, which is responsible for ... "Natural history of alkaptonuria". The New England Journal of Medicine. 347 (26): 2111-21. doi:10.1056/NEJMoa021736. PMID ...
Alkaptonuria patients treated with nitisinone produce far less HGA than those not treated (95% less in the urine), because ... Nitisinone is being studied as a treatment for alkaptonuria. McKiernan PJ (2006). "Nitisinone in the treatment of hereditary ... This causes the symptoms of Tyrosinemia type 1 experienced by untreated patients.[medical citation needed] Alkaptonuria is ... Clinical trials are ongoing to test whether nitisinone can prevent ochronosis experienced by older alkaptonuria patients.[ ...
2002). "Natural history of alkaptonuria". New England Journal of Medicine. 347 (26): 2111-21. doi:10.1056/NEJMoa021736. PMID ... consequently associated with alkaptonuria. It is an intermediate in the catabolism of aromatic amino acids such as ...
Once he applied Mendel's concepts to alkaptonuria, he published a paper in 1902 called "The Incidence of Alkaptonuria: A Study ... He also discovered alkaptonuria, understanding its inheritance. He served as Regius Professor of Medicine at the University of ... He cites various case studies and compares alkaptonuria to albinism in how it's inherited. In his paper, Garrod focuses on the ... Looking at his records, Garrod noticed that alkaptonuria was more likely to occur in the children of first cousins. Working ...
HPPD can be linked to one of the oldest known inherited metabolic disorders known as alkaptonuria, which is caused by high ... ISBN 978-0-08-024922-3. Garrod EA (1902). "The incidence of alkaptonuria: a study in chemical individuality". Lancet. 160 (4134 ...
Alkaptonuria Tyrosinemia Phenylketonuria List of cutaneous conditions Findlay GH, et al. Ochronosis. Clinics in Dermatology ... The endogenous variety is an autosomal-recessive disease, known as alkaptonuria, that is caused by a lack of homogentisate ... The condition is most often associated with alkaptonuria, but can occur from exogenous administration of phenol complexes such ...
Alkaptonuria Inborn error of metabolism Ochronosis Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency ...
Blue discoloration may occur with alkaptonuria and rarely with Parkinson's disease. Erythroblastosis fetalis and biliary ...
GeneReviews/NCBI/NIH/UW entry on Alkaptonuria OMIM entries on Alkaptonuria Homogentisate+1,2-Dioxygenase at the US National ... Alkaptonuria has another effect in that it can cause the urine to turn black as well if let to sit for long enough to become ... Homegentisate 1,2 dioxygenase is involved in a type of metabolic diseases, called alkaptonuria. This disorder is due to the ...
... conducted studies on alkaptonuria, liver disease, diseases of the genitourinary system and acute infectious diseases. He also ...
Mutations in some of these enzymes can lead to more severe diseases such as, phenylketonuria, alkaptonuria, and tyrosinemia. ...
His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid ... Natural history of alkaptonuria. N Engl J Med, 347:2111-2121. 2002. Gahl W.A., Thoene J.G., Schneider J.A. Cystinosis. N Engl J ... Use of nitisinone in patients with alkaptonuria. Metabolism Clin Exptl, 54:719-728, 2005. Helip-Wooley, A., Westbroek, W., ...
Dark brown or black urine can occur in a genetic disorder called alkaptonuria and in people with melanoma. Purple urine occurs ...
Albinism Alkaptonuria Betalain Iodinated tyrosine derivatives Pauly reaction Tyramine Tyrosine sulfation Tyrosinemia Frey MN, ...
... alkaptonuria, cystinuria, and pentosuria at age 100 in 2008". J. Inherit. Metab. Dis. 31 (5): 580-98. doi:10.1007/s10545-008- ...
... based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was ... alkaptonuria Combined malonic and methylmalonic aciduria (CMAMMA) 2-hydroxyglutaric acidurias Disorders of fatty acid oxidation ...
Alkaptonuria: Metabolic disorder which promotes the accumulation of homogentisic acid in the body and may cause brown colour ...
... and homogentisate in patients with alkaptonuria. Bile pigment Bilirubin Biliverdin Heme Stercobilin John E. Hall (2016). "The ...
Thus, defects in this enzyme may lead to severe metabolic disorders, including alkaptonuria, phenylketonuria and tyrosinaemia, ... has led to diseases such as alkaptonuria, phenylketonuria, and several forms of tyrosinemia. A lack of GSTZ1, specifically, ...
Acute intermittent porphyria Adrenoleukodystrophy (Schilder's disease) Alkaptonuria Aminolevulinic acid dehydratase deficiency ...
When Garrod studied alkaptonuria, a disorder that makes urine quickly turn black due to the presence of gentisate, he noticed ...
Alkaptonuria Arrhythmogenic right ventricular dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus ...
... and D Whipple's disease Albinism Alkaptonuria Amyloidosis Chediak-Higashi syndrome Cystinosis Fabry's disease Galactosemia ...
These traits include: Albinism (recessive): 53 Achondroplasia: 53 Alkaptonuria: 53, 263 Ataxia telangiectasia: 53 Brachydactyly ...
Alkaptonuria Aspartylglucosaminuria Branched-chain keto acid dehydrogenase kinase deficiency Methylmalonic acidemia Maple syrup ...
Al-Kafaàt University, Beirut, Lebanon Alkaptonuria, or black urine disease Algemene Kunstzijde Unie, a Dutch company merged ...
... alkaptonuria MeSH C18.452.648.066.210 - aminoaciduria, renal MeSH C18.452.648.066.210.250 - cystinuria MeSH C18.452.648.066. ...
Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Explore symptoms, inheritance, ... Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the ... Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark ... Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate ...
... Cases. Case Title. Source. CALCIFICATIONS OF THE INTERVERTEBRAL DISCS OF THE SPINE. Faculté de Médecine de Rennes ... Search Medline for Alkaptonuria. Related differential diagnosis. Osteoporosis. Fusion or bridging of the symphysis pubis. ...
... an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal ... could it be a missing link in ochronosis in alkaptonuria? Medical Hypotheses, 91. pp. 77-80. ISSN 0306-9877 ... the causative molecule in alkaptonuria, that is present in excess. ...
Alkaptonuria. Journal of the Indian Medical Association. 1983 Jan; 80(1): 14-6. ...
Tag Archives: Alkaptonuria. The Next Step in Developing A Cure for AKU. Posted on July 31, 2013. by CheckOrphan ... Posted in Rare Disease News , Tagged AKU, AKU Society, Alkaptonuria, Clinical trial, international clinical trial AKU, ... Alkaptonuria (AKU) was first discovered in 1902. More than 100 years later, the drug nitisinone has been identified as the ...
... TINTI L;SPREAFICO ... Alkaptonuria (AKU) is a rare autosomal recessive disease, associated with deficiency of homogentisate 1,2-dioxygenase activity ... Alkaptonuria (AKU) is a rare autosomal recessive disease, associated with deficiency of homogentisate 1,2-dioxygenase activity ... Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.pdf non ...
Mutations in the HGD gene can cause the rare disorder alkaptonuria. The gene usually produces an enzyme that breaks down a ... When this enzyme doesnt function properly, the homogentisic acid builds up and causes symptoms of alkaptonuria that include ... Chromosome 3: gene associated with alkaptonuria, Matt Ridley. Matt Ridley talks about chromosome 3, gene associated with ...
The Value of Financial Modelling in Business Planning Carrying out monetary modelling is an important element of company planning. It can assist a business identify what it should spend its cash on, and what it ought to not spend it on. There are numerous strategies to economic modelling. As an example, the top-down strategy includes considering the marketplace in its entirety. The financial modeler needs to make an informed guess regarding exactly how the macro-market will certainly change with time. After that, the version should start by figuring out how much the marketplace will certainly grow and also what its obstacles to access will be. A great model will certainly have clear differences between inputs as well as outcomes. Inputs stand for assumptions and also assumptions, while outcomes are the computations themselves. Frequently, economic versions are created according to a specific convention: blue stands for inputs, black represents solutions, and so forth. Nevertheless, financial ...
Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized ... Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria. Sameer Thakur, Phuong Markman, ... Aortic stenosis and vascular calcifications in alkaptonuria. Hwaida Hannoush, Wendy J Introne, Marcus Y Chen, Sook-Jin Lee, ... Alkaptonuria-associated aortic stenosis. Zoe S Y Lok, Jacob Goldstein, Julian A Smith ...
Return to Article Details ALKAPTONURIA SYNDROME-A REVIEW ...
Ochronosis (alkaptonuria, rare). First decade of life. Blue-gray discoloration of ear cartilage, tip of nose, and sclera ...
Melanonychia is brown or black pigmentation of the nail unit. Melanonychia commonly presents as pigmented band arranged lengthwise along the nail unit, and this presentation is known as longitudinal melanonychia (LM) or melanonychia striata.
Alkaptonuria ... this condition and to assess whether the drug nitisinone provides long-term help with this illness. ... ... Long-term study of nitisinone to treat alkaptonuria. clinicaltrials.gov/ct2/show/NCT00107783 . ... ...
For example: alkaptonuria AND genetics. *OMIM (Online Mendelian Inheritance in Man): This database is a compendium of human ...
Use of nitisinone in patients with alkaptonuria.. *P. Suwannarat, Kevin OBrien, +7 authors. W. Gahl ...
Alkaptonuria (Orphanet:56) Arthrogryposis multiplex congenita - whistling face (Orphanet:1150) Brachydactylous dwarfism, ...
A variety of mutations in the HGO gene can cause alkaptonuria; most of the mutations leading to disease change parts of the ... In 1990, a French group led by J.L. Guenet identified mice with the equivalent of alkaptonuria; blackened wood shavings in the ... Alkaptonuria has several symptoms, including dark urine, dark pigmentation of cartilage and other connective tissue, and ... Garrod, A. E. The incidence of alkaptonuria: a study in chemical individuality. Lancet, II:1616-1620. 1902. ...
Articles about medicine, physiology, pathology, microbiology, drugs, food, neuroscience and psychology...
Aldred syndrome[?] Alektorophobia[?] Aleukemic leukemia cutis[?] Alexanders disease[?] Alkaptonuria Allain Babin Demarquez ...
Study VII - Genetic and Pediatric Diseases flashcards from Joanna felix's class online, or in Brainscape's iPhone or Android app. ✓ Learn faster with spaced repetition.
Ascorbic acid administration will correct the alkaptonuria of the scorbutic guinea pig. Its effect on human alkaptonuria has ... This suggests a lead in the study of the metabolic abnormality Alkaptonuria in humans. ... galactosemia and alkaptonuria. It is worthy to note that Sealock and Goodland have ascribed to ascorbic acid the faculty of ...
Alkaptonuria 258. Phenylketonuria 258. Part 5: Genetics: Why We Are What We Are 259 ...
Ravindra Pandey, Anil Kumar, Rakesh Garg, Puneet Khanna, Vanlal Darlong, Perioperative management of patient with alkaptonuria ...
Alkaptonuria is a rare genetic disease, in which amino acids and tyrosine cannot be processed. A 72-year-old man with a history ... From these findings and his past history of arthritis, we diagnosed alkaptonuria. The patient had an uneventful recovery. ... A Severe Aortic Stenosis and Coronary Calcifications in Alkaptonuria / 日本心臓血管外科学会雑誌 ...
Blue palms and nails: A clue to diagnosis of alkaptonuria November 1, 2020 ...
2-dioxygenase missense variants in the context of rare disease alkaptonuria. Lequeue, S., Neuckermans, J., Vanhaecke, T. & De ...
Alkaptonuria (Orphan). Treatment of alkaptonuria. Orphan indication sponsor. *Swedish Orphan AB; Kungsgatan 37, 7th Floor; SE- ...
  • Alkaptonuria (AKU) is a rare autosomal recessive disease, associated with deficiency of homogentisate 1,2-dioxygenase activity in the liver. (unisi.it)
  • Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart. (qxmd.com)
  • As Garrod suggested, alkaptonuria is an autosomal recessive genetic trait, although an autosomal dominant transmission pattern in 3 generations in a nonconsanguineous family has been reported. (medscape.com)
  • Alkaptonuria is a genetic disorder that is inherited in an autosomal recessive manner, which means that both parents of the patient must (with a few rare exceptions) be either asymptomatic carriers of this disease or have the disease themselves. (contourderm.com)
  • Alkaptonuria is a rare autosomal recessive metabolic disorder. (arthroplastytoday.org)
  • Endogenous ochronosis (alkaptonuria). (medlineplus.gov)
  • Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? (lancs.ac.uk)
  • Black aorta in a patient with alkaptonuria (ochronosis). (qxmd.com)
  • Tyrosinase under the right conditions shows alterations in its substrate specificity and may contribute to the darkening seen in AKU where it moves away from polymerising tyrosine but also homogentisic acid, the causative molecule in alkaptonuria, that is present in excess. (lancs.ac.uk)
  • When this enzyme doesn't function properly, the homogentisic acid builds up and causes symptoms of alkaptonuria that include arthritis, black urine and reddish earwax. (cshl.edu)
  • Alkaptonuria, also called black urine disease, alcaptonuria, and black bone disease, is one of 4 disorders originally defined as an inborn error of metabolism by Archibald Garrod in his Croonian Lectures of 1902. (medscape.com)
  • Archibald Garrod observes that the disease alkaptonuria is inherited according to Mendelian rules. (genome.gov)
  • In 1902, British physician Archibald Garrod, on the advice of his colleague, Bateson, demonstrated that alkaptonuria is inherited according to Mendelian rules and involves a rare recessive mutation. (genome.gov)
  • Long-term study of nitisinone to treat alkaptonuria. (nih.gov)
  • Use of nitisinone in patients with alkaptonuria. (semanticscholar.org)
  • Alkaptonuria is a rare genetic disease, in which amino acids and tyrosine cannot be processed. (bvsalud.org)
  • The AKU Society is a patient-led group for the debilitating genetic disease alkaptonuria (AKU). (surreycc.gov.uk)
  • Zatkova A. An update on molecular genetics of Alkaptonuria (AKU). (medlineplus.gov)
  • Molecular basis of Alkaptonuria and other metabolic disorders. (csic.es)
  • These include the fact that newborn screening for alkaptonuria is much less widely practiced than that for phenylketonuria. (medscape.com)
  • Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. (qxmd.com)
  • Garrod, A. E. The incidence of alkaptonuria: a study in chemical individuality. (genome.gov)
  • Aortic stenosis and vascular calcifications in alkaptonuria. (qxmd.com)
  • Human geneticists soon mapped the alkaptonuria mutation to a small portion of chromosome 3. (genome.gov)
  • People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. (medlineplus.gov)
  • Alkaptonuria has several symptoms, including dark urine, dark pigmentation of cartilage and other connective tissue, and arthritis. (genome.gov)
  • From these findings and his past history of arthritis, we diagnosed alkaptonuria. (bvsalud.org)
  • We present two patients who have undergone successful aortic valve replacement for alkaptonuria-associated aortic stenosis along with a review of the literature. (qxmd.com)
  • Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria. (qxmd.com)
  • It was about how they successfully managed to find the resources to create a treatment for Alkaptonuria, a very rare inherited disorder. (dariahupov.com)
  • Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. (medlineplus.gov)
  • Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. (medlineplus.gov)
  • Trace alkaptonuria through a family pedigree. (cshl.edu)
  • Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. (nih.gov)
  • Alkaptonuria is a rare autosomal recessive genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, leading to accumulation of an intermediate substance called homogentisic acid in the blood and tissues. (osmosis.org)
  • Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. (medscape.com)
  • Alkaptonuria is a rare genetic disorder in which there is a deficiency of the enzyme homogentisic acid oxidase, resulting in the accumulation of homogentisic acid and a characteristic blue-black discoloration of the skin and cartilage, called ochronosis. (medscape.com)
  • Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase, the only enzyme capable of catabolizing homogentisic acid (HGA). (medscape.com)
  • In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. (nih.gov)
  • Alkaptonuria is a rare autosomal recessive disorder in which deficient activity of homogentisic acid dioxygenase leads to the accumulation of homogentisic acid in connective tissues. (clinicaladvisor.com)
  • Alkaptonuria diagnosis is made based on elevated urinary homogentisic acid. (clinicaladvisor.com)
  • But in alkaptonuria, a substance produced along the way, homogentisic acid, cannot be broken down any further. (openaccessgovernment.org)
  • Nitisinone blocks the production of homogentisic acid, which accumulates in alkaptonuria and forms polymers that bind to and destroy connective tissue. (nih.gov)
  • People with alkaptonuria do not have enough of a particular enzyme, leading to a build up of a chemical in the body called homogentisic acid. (trendslam.com)
  • The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. (nih.gov)
  • Ochronosis was defined by Virchow who histologically described the connective tissue in alkaptonuria, given the cartilage's ochre, or yellow, hue under the microscope. (medscape.com)
  • Deficiency in the enzyme causes ALKAPTONURIA , an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS . (nih.gov)
  • Felbor U, Mutsch Y, Grehn F, Müller CR, Kress W. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. (medscape.com)
  • Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. (medscape.com)
  • Mistry JB, Jackson DJ, Bukhari M, Taylor AM. A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. (medscape.com)
  • Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria. (unisi.it)
  • At the present state of knowledge, no medical therapy for ochronosis and alkaptonuria is available. (medscape.com)
  • Alkaptonuria is a rare, progressive and irreversible genetic metabolic disorder. (eestiarst.ee)
  • Alkaptonuria is an inherited disorder of metabolism of the tyrosine due to a defect in the enzyme homogentisate dioxygenase (HGD). (thecardiologyadvisor.com)
  • Ochronosis is the bluish-black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria , a metabolic disorder. (medscape.com)
  • Alkaptonuria, or "black urine disease", is a very rare inherited disorder that prevents the body from fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. (openaccessgovernment.org)
  • It was about how they successfully managed to find the resources to create a treatment for Alkaptonuria, a very rare inherited disorder. (dariahupov.com)
  • In 1902, Sir Archibald Garrod published the first example of a recessive human trait, alkaptonuria, a relatively harmless disorder. (cshl.edu)
  • Alkaptonuria is a recessive human disorder. (cshl.edu)
  • Remember alkaptonuria is a recessive disorder. (cshl.edu)
  • Alkaptonuria is a type of metabolic disorder. (ingrossare-il-pene16.xyz)
  • Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria. (nih.gov)
  • His work commenced on a rare form of osteoarthritis, alkaptonuria, which is still studied in his lab. (berkeley.edu)
  • More recently, another rare disease, alkaptonuria ("black bone disease"), has yielded clues about a very common condition: osteoarthritis. (trendslam.com)
  • The 4 inborn errors of metabolism that he considered were albinism, alkaptonuria, pentosuria, and cystinuria. (en-academic.com)
  • Alkaptonuria was the first inborn error of metabolism described by Sir Archibald Garrod in 1902. (thecardiologyadvisor.com)
  • Alcaptonuria is another condition caused by defective phenylalanine and tyrosine metabolism. (termedia.pl)
  • Alkaptonuria-associated aortic stenosis. (medscape.com)
  • Vavuranakis M, Triantafillidi H, Stefanadis C, Toutouzas P. Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. (medscape.com)
  • Biochemical, pathological and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of the world literature (1584-1962). (medscape.com)
  • As Garrod suggested, alkaptonuria is an autosomal recessive genetic trait, although an autosomal dominant transmission pattern in 3 generations in a nonconsanguineous family has been reported. (medscape.com)
  • In alkaptonuria, which is usually congenital (Garrod, Erich Meyer), a derivate of the aromatic plum of the albumin molecule, the so-called alkapton, secreted, which is characterized as hemogentisic acid (dioxyphenyl acetic acid). (gluedideas.com)
  • Alkaptonuria features a defect in the biochemical pathway by which phenylalanine and tyrosine are normally degraded into fumaric and acetoacetic acid. (medscape.com)
  • Nick Sireau, one of the CRDN founders and Chairman of the AKU Society and Findacure, is another good example in the work he has done to identify a treatment for his two sons, who have alkaptonuria (AKU), also known as black bone disease. (pharmaphorum.com)
  • Early diagnosis of co-existent ß-thalassemia and alkaptonuria. (medscape.com)
  • All patients entering this study will carry the diagnosis of alkaptonuria, although we will confirm this diagnosis during the admission. (nih.gov)
  • Aorticstenosis is the most common cardiovascular involvement in patients with alkaptonuria and sometimes surgical treatment may be needed. (eestiarst.ee)
  • The success of dietary protein restriction in alkaptonuria patients is age-dependent. (medscape.com)
  • Patients with alkaptonuria should be informed that they will have a normal life span, despite pigmentary alterations and arthritis that materialize in mid life. (medscape.com)
  • The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. (nih.gov)
  • Patients with alkaptonuria who are at least two years of age may be eligible for this study. (nih.gov)
  • The information from this study will enable doctors to better advise patients with alkaptonuria about their disease and treatment options. (nih.gov)
  • Assessment of Thyroid Function in Patients With Alkaptonuria. (nih.gov)
  • In this article I consider the role of passing and performance in the everyday lives of alkaptonuria and vitiligo patients. (philpapers.org)
  • Despite many speculations that this polymer deposition is associated with cardiac pathology, no reports of mortality directly related to the homozygous state for alkaptonuria exist. (medscape.com)
  • John and his grandmother are both homozygous for alkaptonuria. (cshl.edu)
  • Based on this information, John's parents are: both homozygous for the alkaptonuria gene. (cshl.edu)
  • No, if John's parents are homozygous, they would have alkaptonuria too. (cshl.edu)
  • John is homozygous and inherited one copy of the alkaptonuria gene from each parent. (cshl.edu)
  • John is homozygous and his wife is heterozygous for alkaptonuria. (cshl.edu)
  • Alkaptonuria is inherited in an autosomal recessive manner, meaning the individual has inherited two abnormal copies of the HGD gene (i.e., each gene contains a mutation). (thecardiologyadvisor.com)
  • Identification of the mutation in the alkaptonuria mouse model. (dbcls.jp)
  • Alkaptonuria in Russia: mutational spectrum and novel variants. (nih.gov)
  • Alkaptonuria should be suspected i n individuals with the following clinical findings and family history. (nih.gov)
  • Musculoskeletal findings and disability in alkaptonuria. (medscape.com)
  • The International Alkaptonuria Conference taking place in Cambridge on 10-11 January 2011 promises to be an exciting event that will accelerate the quest for a treatment for AKU, the first genetic disease ever discovered. (checkorphan.org)
  • Alkaptonuria treatment consists of pain management, joint replacement, cardiac valve replacement and other supportive measures. (clinicaladvisor.com)
  • His work on this condition has lead him to also focus on arthritis and the turnover of joint tissues in response to disease(s) due to discoveries made whilst studying alkaptonuria. (berkeley.edu)
  • No, John wouldn't have alkaptonuria if he didn't inherit the genes from his parents. (cshl.edu)
  • [ 7 ] The true frequency of alkaptonuria cannot be given with certainty for numerous reasons. (medscape.com)