Kartagener syndrome is essentially a subtype of an inherited disorder called primary ciliary dyskinesia (PCD), a heterogeneous disease characterized by functionally abnormal cilia that are dysmotile or, rarely, absent. Defects of all of the axonemal structures, alone or in combination, have been identified in association with PCD. Overly long, overly short, and normally appearing but randomly oriented cilia have been associated with PCD and Kartagener syndrome. Finally, normal ciliary ultrastructure has been described in patients with the clinical picture of Kartagener syndrome. Lack of dynein arms, which are structures that form temporary cross-bridges between adjacent ciliary filaments and are believed to be responsible for generating movement in cilia and sperm tails, remains the most common defect identified (type 1) and the one classically associated with Kartagener syndrome. Cilia of the respiratory tract and sperms are dysmotile or nonfunctional. It has also been postulated that normal ...
Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. It can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics ...
NIH Rare Diseases : 49 Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. It can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics. Last updated: 2/2/2015 ...
TY - JOUR. T1 - ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. AU - Hjeij, Rim. AU - Lindstrand, Anna. AU - Francis, Richard. AU - Zariwala, Maimoona A.. AU - Liu, Xiaoqin. AU - Li, You. AU - Damerla, Rama. AU - Dougherty, Gerard W.. AU - Abouhamed, Marouan. AU - Olbrich, Heike. AU - Loges, Niki T.. AU - Pennekamp, Petra. AU - Davis, Erica E.. AU - Carvalho, Claudia M B. AU - Pehlivan, Davut. AU - Werner, Claudius. AU - Raidt, Johanna. AU - Köhler, Gabriele. AU - Häffner, Karsten. AU - Reyes-Mugica, Miguel. AU - Lupski, James R.. AU - Leigh, Margaret W.. AU - Rosenfeld, Margaret. AU - Morgan, Lucy C.. AU - Knowles, Michael R.. AU - Lo, Cecilia W.. AU - Katsanis, Nicholas. AU - Omran, Heymut. PY - 2013/8/8. Y1 - 2013/8/8. N2 - The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to transport to the ciliary axonemal compartment. ...
Afzelius BA, Mossberg B, Bergström S. Afzelius B.A., Mossberg B, Bergström S Afzelius, Björn A., et al.Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. Valle D, Beaudet A.L., Vogelstein B, Kinzler K.W., Antonarakis S.E., Ballabio A, Gibson K, Mitchell G Eds. David Valle, et al.eds. The Online Metabolic and Molecular Bases of Inherited Disease New York, NY: McGraw-Hill; 2014. http://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62653323. Accessed January 22, 2018 ...
Question - Have Kartageners syndrome, situs inverses, dextrocardia. Will Kartageners syndrome be passed to child?. Ask a Doctor about In vitro fertilization, Ask a Genetics Specialist
TY - JOUR. T1 - Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. AU - Paff, Tamara. AU - Loges, Niki T.. AU - Aprea, Isabella. AU - Wu, Kaman. AU - Bakey, Zeineb. AU - Haarman, Eric G.. AU - Daniels, Johannes M.A.. AU - Sistermans, Erik A.. AU - Bogunovic, Natalija. AU - Dougherty, Gerard W.. AU - Höben, Inga M.. AU - Große-Onnebrink, Jörg. AU - Matter, Anja. AU - Olbrich, Heike. AU - Werner, Claudius. AU - Pals, Gerard. AU - Schmidts, Miriam. AU - Omran, Heymut. AU - Micha, Dimitra. PY - 2017/1/5. Y1 - 2017/1/5. N2 - Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. ...
Primary ciliary dyskinesia: mechanisms and management Nadirah Damseh,1 Nada Quercia,1,2 Nisreen Rumman,3 Sharon D Dell,4 Raymond H Kim5 1Division of Clinical and Metabolic Genetics, 2Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; 3Pediatric Department, Makassed Hospital, Jerusalem, Palestine; 4Division of Respiratory Medicine, Department of Pediatrics, Child Health Evaluative Sciences, Hospital for Sick Children, 5Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada Abstract: Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately
The veterinarian performs a simple cheek swab and sends it to the laboratory. The result, delivered within few days, indicates if the tested dog is clear, carrier or affected for Primary Ciliary Dyskinesia. A genetic certificate displaying the result must be used as a guarantee for a mating or to justify the sale of puppies clear of Primary Ciliary Dyskinesia.. The veterinarian who notices early respiratory issues in a young Old English Sheepdog puppy can process a DNA test to confirm or refute the diagnosis of Ciliary Dyskinesia. If the dog is affected, parents have to be screened as well.. A breeder who knows the genetic status of the dog can select its breeding dogs, adapt matings, avoid the birth of affected puppies and limit the spread of this severe respiratory disease in the breed.. For more information on the PCD DNA test. Reproduction of the article is permitted if the source « ANTAGENE laboratory » is acknowledged ...
Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear), fallopian tube, and flagella of sperm cells. The phrase immotile ciliary syndrome is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. Respiratory epithelial motile cilia, which resemble microscopic hairs (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poor mucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), which are currently the subject of dozens of research ...
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and subfertility due to dysfunction of cilia (brushes) of the lining cells. Undiagnosed and untreated it can result in an irreversible crippling chronic lung disease. The diagnosis of PCD is a difficult one and involves the complex assessment of ciliary structure and function. Thus, PCD is under diagnosed and appropriate preventative and symptomatic treatment may be denied in many patients. In addition, the gene responsible for PCD is at present unknown, thus preventing pre-natal diagnosis and genetic counseling.. Working hypothesis and aims: Recently, it has become apparent that the evaluation of nasally expired nitric oxide (NO) constitutes a simple and non-invasive diagnostic method, which discriminates between PCD patients, PCD carriers and healthy controls at high rate of specificity and sensitivity. Testing is simple and last approximately one minute. We have recently ...
It is challenging to confirm a diagnosis of PCD in patients with a compatible clinical phenotype, but who do not have hallmark defects in ciliary ultrastructure. Some specialised centres use nNO measurement as an aid to diagnosis. A few centres use videomicroscopy to evaluate ciliary waveform to confirm the diagnosis, but this assay is difficult and limited in availability.. Mutations in DNAH11 have been reported in four families in which patients with PCD have normal ciliary ultrastructure.19-21 However, the prevalence of DNAH11 mutations, and genotype-ciliary phenotype correlations, are not well defined. In this study, we tested the hypothesis that mutations in DNAH11 are a relatively common cause of PCD in patients with normal ciliary ultrastructure. We studied a large number of well characterised patients with PCD and different ciliary ultrastructural phenotypes to determine the frequency of DNAH11 mutations in each group.25 In patients with normal ciliary ultrastructure, the clinical ...
Despite living with four lung conditions, including Pulmonary Arterial Hypertension (PAH), Bridget is a bubbly and positive young woman who tries to always look on the bright side of life. Its the life-long friendships made with others living with PAH, the love and support of her family and the motivation of her role models that encourage and inspire Bridget to live her best life. This is her story. My name is Bridget, I am 25 years old and I live in Narangba, Queensland with a friend. We both recently moved into Specialised Disability Accommodation. My Assistance Dog Lily also moved with me. I have four lung conditions: Kartagener Syndrome, Bronchiectasis, Reactive Small Airways Disease and Pulmonary Arterial Hypertension (PAH). I was diagnosed with Kartagener Syndrome at 3 months old. It is a genetic disorder which I had to deal with a lot growing up, as I got bullied in school for having a runny nose. The journey to my diagnosis of PAH was six months after I first started getting severe ...
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DNAH5: dynein, axonemal, heavy chain 5 gene; DNAI1: dynein, axonemal, intermediate chain 1 gene; DNAH11: dynein, axonemal, heavy chain 11 gene; TXNDC3: thioredoxin domain containing 3 (spermatozoa) gene; DNAI2: dynein, axonemal, intermediate chain 2 gene; KTU: chromosome 14 open reading frame 104 gene; RPGR: retinitis pigmentosa guanosine triphosphatase regulator gene; OFD1: oral-facial-digital syndrome 1 gene; RSPH9: radial spoke head 9 homologue (Chlamydomonas) gene; RSPH4A: radial spoke head 4 homologue A (Chlamydomonas) gene; ODA: outer dynein arm; IDA: inner dynein arm; CP: central pair; c.: cDNA sequence; del: deletion; T: thymidine; IVS: intervening sequence; ins: insertion; G: guanine; A: adenine; KS: Kartageners syndrome. ...
Patients with Primary Ciliary Dyskinesia (PCD) suffer from recurrent upper and lower airway infections due to defects in the cilia present on the respiratory epithelium. Since chronic inflammatory conditions can cause changes in innate immune responses, we investigated whether monocytes isolated from the peripheral blood of pediatric PCD patients respond differently to inflammatory stimuli, compared to monocytes from healthy children and adults. The receptor for C5a (C5aR) was upregulated in PCD, whereas expression levels of the leukocyte chemoattractant receptors CCR1, CCR2, CCR5, BLT1 and FPR1 on PCD monocytes were similar to those on monocytes from healthy individuals. Also in vitro migration of PCD monocytes towards the ligands of those receptors (CCL2, fMLP, C5a and LTB4) was normal. Compared to healthy children, PCD patients had a higher percentage of the non-classic monocyte subset (CD14+CD16++) in circulation. Finally, PCD monocytes produced higher levels of pro-inflammatory cytokines ...
Primary ciliary dyskinesia (PCD) is a genetically inherited condition. It is due to structural abnormalities of cilia, which are microscopic hairs found in organs and cells throughout the body. Patients with this condition typically develop upper respiratory tract symptoms such as sinusitis and glue ear, lower respiratory tract problems such as recurrent chest infections, and fertility problems. There is currently no evidence that patients with PCD have a higher incidence of balance problems. However, recent animal studies have shown that cilia may also be important in the development of part of the inner ear balance (vestibular) system, specifically the part that detects linear movement known as the otolith system.. The investigators hope to determine whether patients with PCD have absent or reduced otolith function compared to the normal population. Balance problems are not currently screened for in PCD patients, and could be unrecognized and therefore untreated. It is also possible that PCD ...
Primary ciliary dyskinesia (DNAI2-related) is an autosomal recessive disorder caused by pathogenic variants in the DNAI2 gene. While it is found in different ethnicities around the world, it is more prevalent in individuals of Ashkenazi Jewish descent due to the presence of a founder mutation. In affected patients, ciliary dysfunction results in chronic sinusitis and bronchiectasis, frequent bouts of pneumonia, and hearing loss associated with recurrent ear infections. Most infants require respiratory assistance in the first few weeks of life. Approximately half of all affected adult males are infertile due to sperm immobility. Situs inversus, a benign condition where the internal organs are found on the opposite side of the body, is a random occurrence and therefore is expected to occur in 50% of affected individuals. Some patients have abnormal left-right axis patterning resulting in organ malformations, including the heart. These patients may have a poor prognosis. No genotype-phenotype ...
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive, and in classical form presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% cases. It is becoming appreciated that dysfunction of cilia is implicated in a wider spectrum of disease, including polycystic liver and kidney disease, central nervous system problems including retinopathy and hydrocephalus, and biliary atresia. Cilia are complex structures, containing more than 250 proteins, but recent studies have begun to locate PCD genes scattered throughout the genome. Screening tests for PCD include nasal nitric oxide and in vivo tests of ciliary motility such as the saccharin test. Specific diagnosis requires examination of cilia by light and electron microscopy, with epithelial culture in doubtful cases. This is only available in supra-regional centres, which have recently been centrally funded by NCG in order to provide a comprehensive, free diagnostic service in ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CILD9; primary ciliary dyskinesia 9 with or without situs inversus
Dynein intermediate chain 1, axonemal is a protein that in humans is encoded by the DNAI1 gene. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. This gene encodes an intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia (PCD) and Kartagener syndrome. The DNAi1 gene (axonemal dynein intermediate chain 1 gene 1) is a gene involved in the development of proper respiratory function, motility of spermatozoa, and asymmetrical organization of the viscera during embryogenesis. This gene affects these three very different aspects of development because all three are dependent on ...
Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. The disease is usually inherited as an autosomal recessive trait. To identify a gene locus for PCD, we studied a l
Primary ciliary dyskinesia (PCD) is a rare genetic disorder often associated with chronic ear, sinus, and respiratory infections.
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013 ...
TY - JOUR. T1 - Kartagener-syndromás no kiviselt ikerterhessége. AU - Gávai, Márta. AU - Beke, A.. AU - Urbancsek, J.. AU - Murber, Ákos. PY - 2006. Y1 - 2006. N2 - In females, the immobility of the cilia in the fallopian tube may cause barrenness. Pregnancy does not affect the frequency and severity of existing bronchitis, bronchiectasia and bronchial asthma caused by primary ciliary dyskinesia. There is an increased risk of premature delivery in patients with Kartagener syndrome. Since assisted reproduction is often used, the risk of multiple gestations is higher. Along with multiple gestation comes the increased risk of premature delivery, not only because of the presence of multiple fetuses and uterine stretching, but also because the increased size of the uterus presses against the already poorly functioning maternal lungs and can lead to infection and early rupture of the membranes. In cases where a cesarean section becomes necessary, it is very important to use the appropriate ...
39: A method of treating cystic fibrosis, sinusitis, otitis media, ventilator associated pneumonia, chronic bronchitis, chronic obstructive pulmonary disorder, primary ciliary dyskinesia, asthma, bronchiectasis, post-operative atelectasis, Kartageners syndrome, dry mouth, mouth ulcer, gum disease, mycositis, gastro-esophageal reflux disease, peptic ulcer, heartburn, esophagitis, Sjogrens syndrome, inflammatory bowel disease, gastrointestinal problems caused by radiation or chemotherapy for cancer, or a disease associated with expression or activity of a P2Y receptor in a subject, comprising administering to a subject in need thereof a therapeutically effective amount of a compound of formula IIA: ##STR00098## or enantiomers, diastereomers, enantiomerically enriched mixtures, racemic mixtures, crystalline forms, non-crystalline forms, amorphous forms, or pharmaceutically acceptable salts thereof, wherein: A, D, and E are independently N, C(R5), or CH; F is N or C(R4); R1 is an H, oxo, lower ...
Year 2018. Grant recipient: Claudia E. Kuhni. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.. Halbeisen FS1, Goutaki M1,2, Spycher BD1,2, Amirav I3,4,5, Behan L6,7, Boon M8, Hogg C9, Casaulta C2,10, Crowley S11, Haarman EG12, Karadag B13, Koerner-Rettberg C14, Loebinger MR15, Mazurek H16, Morgan L17, Nielsen KG18, Omran H19, Santamaria F20, Schwerk N21, Thouvenin G22,23,24, Yiallouros P25, Lucas JS6, Latzin P2, Kuehni CE1,. Eur Respir J. 2018 Aug 23;52(2). Primary ciliary dyskinesia (PCD) has been considered a relatively mild disease, especially compared to cystic fibrosis (CF), but studies on lung function in PCD patients have been few and small.This study compared lung function from spirometry of PCD patients to normal reference values and to published data from CF patients. We calculated z-scores and % predicted values for forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) using the Global Lung Function Initiative 2012 values for 991 ...
Cilia have a modular organization at the ultrastructural level (Fig. 1), and the individual structural modules (for example, central pair, dynein arms, and radial spokes) are involved in different functions. For instance, the dynein arms or radial spokes are needed for motile but not for sensory functions, whereas ciliary membrane channels may be required for sensing but not for motion. Thus, a particular disease mutation can affect some particular subset of ciliary structural or functional features while leaving others intact.. This effect is clearly seen in primary ciliary dyskinesia (PCD), which is also known as immotile cilia syndrome. PCD generally involves defects in dynein arms, radial spokes, or the central pair (which is to say, components of the motile machinery). Defects in such structures would not be expected to affect signaling; for example, one does not typically observe polydactyly or other hedgehog signaling defects during development in PCD patients. Similarly, PCD patients do ...
PCD is a rare heterogeneous disorder characterized by impaired mucociliary clearance due to abnormal ciliary function, which is usually but not always associated with abnormal ciliary ultrastructure [1, 2]. Clinical manifestations are caused by impaired mucociliary clearance and include recurrent lower and upper respiratory tract symptoms which present soon after birth. Neonatal symptoms range in severity from mild transient tachypnoea to significant respiratory failure requiring prolonged respiratory support [3]. Recent data suggests that PCD has a progressive, and potentially severe long-term course of lower airway disease [4] with recurrent infections leading to bronchiectasis and impaired lung function. Male infertility is common since sperm flagella have a similar ultrastructure to cilia, whereas the incidence of female infertility and of ectopic pregnancy is uncertain but might be explained by immotile fallopian tube cilia [5]. Motile embryonic nodal cilia establish left-right asymmetry ...
PICADAR comprises seven predictive variables including full-term gestational age, admittance to a neonatal unit, neonatal chest symptoms, persistent perennial rhinitis, chronic ear and hearing symptoms, situs abnormalities, and presence of a cardiac defect; such items are easily ascertained and quick to compute in any clinical setting. We did not specify cardiac defects associated with laterality defects within the score because we want PICADAR to be used by nonspecialists. PICADAR was derived in a specialist PCD centre (UHS) and validated externally in another centre (RBH). Although these two diagnostic centres are both situated in Southern England, they have different demographic populations in terms of ethnicity, consanguinity and age at assessment. Good discriminant ability was maintained when used in the validation group with AUC 0.87. The process of developing a clinical prediction rule includes four stages before ever being implemented in routine practice (derivation, internal validation, ...
As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and 256 were insertions or deletions. About 65% of the variants were heterozygous and 35% homozygous. The insertions and deletions ranged in length from 1 to over 100 nucleotides.. In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed. The validation included insertions and deletions of lengths between 1 and 100 nucleotides. Insertions tested in silico: 2200 between 1 and 5 nucleotides, 625 between 6 and 10 nucleotides, 29 between 11 and 20 nucleotides, 25 between 21 and 49 nucleotides, and 23 at or greater than 50 nucleotides, with the largest at 98 nucleotides. All insertions were detected. Deletions tested in silico: 1813 ...
Bronchiectasis Differential Diagnosis ‼️⚠️ A SICK AIRWAY ⚡️ Airway lesion/chronic obstruction ⚡️ Sequestration ⚡️ Immunodeficiency syndrome (especially immunoglobulin abnormalities) ⚡️ Cystic fibrosis ⚡️ Kartageners syndrome/dysmotile ciliary syndromes ⚡️ AlIergic bronchopulmonary aspergillosis (ABPA) ⚡️ Infection/Inflammation (e.g., tuberculosis, post-viral,whooping cough, collagen-vascular disease) ... ...
Books and Chapters:. 1. Primary ciliary dyskinesia. Mary Leigh-Anne Daniels, Sohini Ghosh, and Peadar G Noone (Sr). Current Pulmonology Reports December 2016, Volume 5, Issue 4, pp 191-198. 2. Lobo J, Rojas-Balcazar JM, Noone PG (Sr). Recent Advances in Cystic Fibrosis. Clin Chest Medicine 2012 Jun; 33(2): 307-28.. 3. LJ Lobo, M Zariwala and PG Noone (Sr). Ciliary Dyskinesias; Primary Ciliary Dyskinesia in Adults. Monograph, Eur Resp Soc (Bronchiectasis) 2011. Chapter 9, pp 130-149. 4. Bennett WD, Noone PG, Knowles MR, Boucher RC. Regulation of Mucociliary Clearance by Purinergic Receptors. In Cilia and Mucus: From Development to Respiratory Defense, ed. Salathe M, Marcel Dekker, Inc. NY, 2001, pp 347-360.. 5. Noone PG, Knowles MR. Standard Therapy of Cystic Fibrosis Lung Disease. In: Cystic fibrosis in adults. Yankaskas JR, Knowles MR, eds. Lippincott-Raven Publishers, Philadelphia, 1999; pp 145-173.. 6. Noone PG, Bresnihan B. Rheumatologic disease in adults with CF. In: Cystic fibrosis in ...
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PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
In medical terminology hives is usually spoken as urticaria as hive is a symptom of urticaria. Most people do not develop one hive when they have urticaria, hence the name hives.Hives are a kind of skin rash notable for dark red, raised, itchy bumps. Hives are most often caused by allergic reactions but there are many other causes too. For example, most cases of hives lasting less than six weeks (acute hives) are the result of an allergic trigger ...
Diagnosis of primary ciliary dyskinesia (PCD) by identification of dynein arm loss in transmission electron microscopy (TEM) images can be confounded by high background noise due to random electron-dense material within the ciliary matrix, leading to diagnostic uncertainty even for experienced morphologists. to generate mechanical torque [5] by forced sliding of adjacent peripheral microtubular pairs [6]. Motile cilia without two-microtubule central complexes (9+0 architecture) move in a rotatory fashion, and are responsible for a fluid current at the embryonic node that determines sidedness in the developing embryo [7]. In contrast, motile cilia with two-microtubule central complexes (9+2 architecture) have an effective stroke in a single plane, such that synchronous (per cell) and metachronous (per surface) beating allows coordinated movement of surface fluid [8, 9]. Main ciliary dyskinesia (PCD) (main here indicates congenital, rather than acquired, and not involvement of main cilia) is a ...
A key component of lung defense is the efficiency of mucociliary clearance (MCC). Primary ciliary dyskinesia (PCD) is a human genetic disorder with defective MC...
Det finnes flere arvelige lidelser som også er kjent på OES. En av dem er Primary Ciliary Dyskinesia (PCD), et arvelig avvik som går på strukturen og funksjonen til flimmerhårene i luftveiene og andre steder i kroppen.. Flimmerhår, cilier, er små utløpere på overflaten av epitelcellene som kler både de øvre luftveier, nese og bihuler og nedre luftveier, luftrør og bronkier. Hver epitelcelle har 200-300 flimmerhår. Flimmerhårene skal bevege seg synkront og feie bort et teppe av slim, som inneholder partikler, døde celler, eventuelle mikroorganismer og betennelsesceller.. Hos en hund som lider av PCD vil flimmerhårene ikke gjøre jobben sin. Mangel på koordinering og ineffektivitet hos flimmerhårene fører til for dårlig transport av slimet. Dette fører til at hunden vil hoste, pipe i brystet, nyse og etter hvert som slimet blir liggende å irritere utvikles det infeksjoner i luftveiene. Det er viktig at slike hunder ikke får hostedempende medisiner da hosting er den eneste ...
This post is authored by Renee Dale, a fellow PCDer. Primary Ciliary Dyskinesia (PCD) Awareness Month (October) is a necessary part of helping the PCD community find a cure. But mid-way through the month, every single year, it hits me and hits me hard. I look around and see all this effort by families and friends…
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet. 93: 336-3345, 2013 [PDF ...
Cilia and flagella are small, hairlike protrusions that are found on the surface of a cell body. They can be sense organs, or they can move, beating in a coordinated motion to either move the cell or to move liquids or small solids across the cell surface. A disease known as primary ciliary dyskinesia (PCD) can cause a number of human disorders. One of these is chronic destructive airway...Read more. ...
The main cause of male infertility is low semen quality. In men who have the necessary reproductive organs to procreate, infertility can be caused by low sperm count due to endocrine problems, drugs, radiation, or infection. There may be testicular malformations, hormone imbalance, or blockage of the mans duct system. Although many of these can be treated through surgery or hormonal substitutions, some may be indefinite.[57] Infertility associated with viable, but immotile sperm may be caused by primary ciliary dyskinesia. The sperm must provide the zygote with DNA, centrioles, and activation factor for the embryo to develop. A defect in any of these sperm structures may result in infertility that will not be detected by semen analysis.[58] Antisperm antibodies cause immune infertility.[23][24] Cystic fibrosis can lead to infertility in men ...
University of Leeds and Leeds teaching Hospitals NHS Trust - Cited by 4,755 - Cystic Fibrosis - Primary Ciliary - Dyskinesia Bronchiectasis
Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022. PMID: ...
DISQUINESIA CILIAR PRIMARIA PDF - Disease definition. Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper
From UniProt:. Ciliary dyskinesia, primary, 26 (CILD26): A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. [MIM:615500]. ...
Definition of primary ciliary dyskinesia. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
PCD is an inherited genetic disorder of the structure and / or function of the cilia, which are the tiny microscopic moving structures lining the airways, ears, sinuses and some other areas of the body. The sweeping, wave-like motion of cilia is important for keeping these areas clean and free from infection, acting as an essential primary defence barrier. In patients with PCD, this wave-like motion does not happen in the normal way, and in some, it does not happen at all ...
Dr Biju Thomas was trained in India, Australia and the United Kingdom. He worked at Royal Manchester Childrens hospital UK as Consultant in Paediatric Respiratory Medicine, before moving to Singapore in 2011. He is currently a senior consultant in Paediatric Respiratory Medicine at KK Womens and Childrens Hospital, Singapore and also holds academic appointments with the Duke-NUS Graduate Medical School, Yong Loo Lin School of Medicine and Lee Kong Chian School of Medicine, in Singapore. His clinical special interests include asthma, bronchiectasis, flexible bronchoscopy, paediatric sleep medicine, long term ventilation, Cystic Fibrosis and Primary Ciliary Dyskinesia (PCD). Dr. Thomass fields of research interests include paediatric sleep medicine, asthma and Primary Ciliary Dyskinesia. He is a member of the European Respiratory Society and a fellow of the Royal College of Paediatrics and Child Health ...
Being diagnosed with a chronic disease such as PCD can be disheartening. Making notes, as well as taking along a trusted family member or friend, can help you create an open dialogue with your physician.
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FP7,BESTCILIA,HEALTH.2012.2.4.4-2,REGION HOVEDSTADEN(DK),TECHNOLOGIKO PANEPISTIMIO KYPROU(CY),STICHTING VU(NL),ETHNIKO KAI KAPODISTRIAKO PANEPISTIMIO ATHINON(EL),EUROPEAN RESEARCH SERVICES GMBH(DE),UNIVERSITAET BERN(CH),THE UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL(US),UNIVERSITY OF SOUTHAMPTON(UK),ROYAL BROMPTON AND HAREFIELD NATIONAL HEALTH SERVICE TRUST(UK),WESTFAELISCHE WILHELMS-UNIVERSITAET MUENSTER(DE),UNIVERSITY OF MIAMI(US),INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY(PL)
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015 ...
Clinical application of fractional exhaled nitric oxide and nasal nitric oxide levels for the assess eosinophilic inflammation of allergic rhinitis among children
Table of Contents. Table of Contents 2. List of Tables 5. List of Figures 6. Introduction 7. Global Markets Direct Report Coverage 7. Dyskinesia Overview 8. Therapeutics Development 9. Pipeline Products for Dyskinesia - Overview 9. Pipeline Products for Dyskinesia - Comparative Analysis 10. Dyskinesia - Therapeutics under Development by Companies 11. Dyskinesia - Therapeutics under Investigation by Universities/Institutes 14. Dyskinesia - Pipeline Products Glance 15. Late Stage Products 15. Clinical Stage Products 16. Early Stage Products 17. Dyskinesia - Products under Development by Companies 18. Dyskinesia - Products under Investigation by Universities/Institutes 21. Dyskinesia - Companies Involved in Therapeutics Development 22. Adamas Pharmaceuticals, Inc. 22. Addex Therapeutics Ltd 23. Advicenne 24. Astraea Therapeutics, LLC 25. Bionomics Limited 26. Catalyst Biosciences, Inc. 27. Catalyst Pharmaceuticals, Inc. 28. Clevexel Pharma SAS 29. Contera Pharma ApS 30. EpiVax, Inc. 31. Heptares ...
The past decade has witnessed an explosion in the interest of biologists in the gas nitric oxide (NO). This highly reactive free radical, first considered only a noxious air pollutant, is produced in mammalian cells by specific enzymes and is believed to play a vital role in many biological events including regulation of blood flow, platelet function, immunity, and neurotransmission.1 2Direct measurement of NO in biological tissues is difficult to perform because this gas reacts rapidly with, for example, haemoglobin or other Fe2+-containing proteins. It is therefore often necessary to rely on indirect measurements in order to detect NO synthesis in vivo. Unlike the situation in most biological tissues where NO is rapidly destroyed, in the gas phase NO is fairly stable at low concentrations.3 NO produced in superficial structures of hollow organs will diffuse into the lumen and thus be detectable in gas collected from such organs.. The presence of NO in exhaled breath of humans was first ...
Summary of RSPH1 (CILD24, FLJ32753, RSP44, RSPH10A, TSGA2) expression in human tissue. Cytoplasmic expression in spermatids, ciliated cells in respiratory epithelia and fallopian tube and ependymal cells in lateral ventricle.
How does natural selection maintain phenotypic variation within marine species? What role do ecological interactions like predation and competition play? My research interests are broadly concerned with these questions. More specifically, I investigate (1) how ecological interactions in the ocean orchestrate relationships between form, function, and fitness, (2) the ecofunctional implications of bilateral asymmetries, and (3) the impact glacial melt-water has on estuarine fish communities. I explore these topics with a variety of techniques, including morphometrics and behavioral observations, field experiments, multivariate statistics, stable isotope analyses, and experimental assessment of fitness.. I currently have two main research projects underway. The first of these is the evolution of body asymmetry in flatfish. Flatfish exhibit remarkably derived body morphology. They undergo metamorphosis as pelagic larvae, where one eye migrates over the dorsal midline so that both eyes are on the ...
I suppose the first thing I need to explain to you is just what it means to be a Sasha doll before I go much farther. Sasha dolls are those designed by the Swiss artist, Sasha Morgenthaler. She made and sold dolls beginning in the 1940s until she passed away in 1975. We Sasha dolls are exceptional in being proportioned like a real child right down to the facial and body asymmetry found in real people. Because of this, we can portray a wide variety of moods with slight adjustments to the tilt of our head. We intentionally have a nuetral expression so we can be sympathetic to all moods of the beholder. The studio made dolls are exceptionally beautiful and are made in the likeness of children from around the world. In the 1960s, Sasha Morgenthalers dream of having her dolls mass produced, so we could be available and affordable for common children was realized. First the Gotz doll company in Germany and then the Frido (later Trendon) company in England began production. Trendon continued producing ...
Posture care is an innovative approach that improves physical and mental well-being in people with disabilities through symmetrical body alignment. Posture care is facilitated by Physical Therapists and is designed to integrate into other interventions, including rehabilitation services. Based on a UK model, posture care is gaining popularity in the United States. The technique uses a gentle, non-invasive approach to improve the distribution of force on joints, ligaments, and muscles. Children and adults with disabilities are at a heightened risk of developing body asymmetry or other distortions that can affect a persons comfort level as well as nearly every aspect of their functioning and behavior. This technique is proven to increase comfort and reduce pain, among other benefits. In order to schedule an appointment, find out about upcoming workshops, or access additional resources about YAIs Posture Care Clinic, please contact Dalia at dalia.zwick [at] yai.org. ...
ARM assembly for eVC with the Mono Jit macros; Author: Sjoerd_B; Updated: 14 Jul 2007; Section: Windows Phone 7/8; Chapter: Mobile Development; Updated: 14 Jul 2007
ARMC8_ENST00000491704 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, ARMC8_ENST00000491704 Genome Browser, ARMC8_ENST00000491704 References
Goat polyclonal antibody raised against synthetic peptide of ZMYND11. A synthetic peptide corresponding to N-terminus of human ZMYND11. (PAB6315) - Products - Abnova
Kit Component:- KN304658G1, Dnaic1 gRNA vector 1 in pCas-Guide vector- KN304658G2, Dnaic1 gRNA vector 2 in pCas-Guide vector- KN304658D, donor vector…
View mouse Zmynd8 Chr2:165784155-165899016 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression
I have bronchiectasis as a result of PCD. Do I assume that I will be one of those who need to isolate for 12 weeks? I already have been for a while, as I was unwell anyway and didnt want to take any...
LRRC67兔多克隆抗体(ab122006)可与人样本反应并经WB, IHC, ICC/IF实验严格验证。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。