Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.
Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.
A bacterium which causes mastitis in cattle and occasionally in man.
Infections with bacteria of the genus STREPTOCOCCUS.
An infant during the first month after birth.
Process of determining and distinguishing species of bacteria or viruses based on antigens they share.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
A powder that dissolves in water, which is administered orally, and is used as a diuretic, expectorant, systemic alkalizer, and electrolyte replenisher.
A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)
The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Educational institutions.
Analog or digital communications device in which the user has a wireless connection from a telephone to a nearby transmitter. It is termed cellular because the service area is divided into multiple "cells." As the user moves from one cell area to another, the call is transferred to the local transmitter.
Professionals qualified by graduation from an accredited school of nursing and by passage of a national licensing examination to practice nursing. They provide services to patients requiring assistance in recovering or maintaining their physical or mental health.
Educational institutions for individuals specializing in the field of medicine.
Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.
A nursing specialty concerned with health and nursing care given to primary and secondary school students by a registered nurse.
A field of anatomical pathology in which living tissue is surgically removed for the purpose of diagnosis and treatment.
Tumors or cancer of the ENDOCRINE GLANDS.
Hospital department which administers and provides pathology services.
Ductless glands that secrete HORMONES directly into the BLOOD CIRCULATION. These hormones influence the METABOLISM and other functions of cells in the body.
Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE).
Institutions specializing in the care of cancer patients.
Time period from 1901 through 2000 of the common era.
A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)
A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY.
A species in the ORTHOBUNYAVIRUS genus of the family BUNYAVIRIDAE family. Previously a large group of serotypes, most are now considered separate species.
Persistent flexure or contracture of a joint.
Virus diseases caused by the BUNYAVIRIDAE.
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.
An ancient country in western Asia, by the twentieth century divided among the former USSR, Turkey, and Iran. It was attacked at various times from before the 7th century B.C. to 69 B.C. by Assyrians, Medes, Persians, the Greeks under Alexander, and the Romans. It changed hands frequently in wars between Neo-Persian and Roman Empires from the 3d to 7th centuries and later under Arabs, Seljuks, Byzantines, and Mongols. In the 19th century Armenian nationalism arose but suffered during Russo-Turkish hostilities. It became part of the Soviet Republic in 1921, with part remaining under Turkey. (Webster's New Geographical Dictionary, 1988)
A major alkaloid from Colchicum autumnale L. and found also in other Colchicum species. Its primary therapeutic use is in the treatment of gout, but it has been used also in the therapy of familial Mediterranean fever (PERIODIC DISEASE).
Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.
Agents that increase uric acid excretion by the kidney (URICOSURIC AGENTS), decrease uric acid production (antihyperuricemics), or alleviate the pain and inflammation of acute attacks of gout.
A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Curved rows of HAIR located on the upper edges of the eye sockets.
A general term for the complete loss of the ability to hear from both ears.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
A characteristic symptom complex.
A subclass of closely-related SOX transcription factors. Members of this subfamily have been implicated in regulating the differentiation of OLIGODENDROCYTES during neural crest formation and in CHONDROGENESIS.

Unfinished feticide: the ethical problems. (1/7)

Dr. Jansen's paper raises three main issues. The one with which he himself is most concerned is the question of which methods of abortion are ethically right, and whether methods which risk the birth of a damaged baby are wrong. But there are two others: first, how the (originally unintended) birth of a live but damaged child alters the moral situation, and secondly, whether the overcoming of sterility by inducing a multiple pregnancy in which some of the fetuses have to be killed in order for any of them to survive is at all morally acceptable.  (+info)

Unfinished feticide: a legal commentary. (2/7)

Jansen expresses concern as to the legal implications of both selective reduction of pregnancy and unsuccessful attempts at termination of pregnancy using mifepristone. This commentary examines the legality of both procedures and concludes that Jansen is over-optimistic in his belief that neither procedure is likely to fall foul of the criminal laws on induced abortion. By contrast his anxieties about civil liability arising from the subsequent live birth of a damaged infant are, it is suggested, unnecessarily pessimistic. Such an action is most unlikely to succeed if brought by the infant herself and any claim on the part of the mother will normally be dependent on proof of negligence. The commentary focusses on the law in England with relevant references to other common law jurisdictions.  (+info)

Paternalism versus autonomy: medical opinion and ethical questions in the treatment of defective neonates.(3/7)

 (+info)

Death by judiciary order.(4/7)

 (+info)

No right to sue for "wrongful life.(5/7)

 (+info)

Supplementary annual report of Council, 1982-1983: medical ethics.(6/7)

 (+info)

One man's burden.(7/7)

 (+info)

Carcass - Foeticide Lyrics. Carcass Reek Of Putrefaction Foeticide Plugged into the socket Leads attached to twisting skin Ignite the squirming foetus To dissolve it
Streptococcus agalactiae (group B streptococcus, GBS) causes neonatal disease and stillbirth, but its burden in sub-Saharan Africa is uncertain. We assessed maternal recto-vaginal GBS colonization (7,967 women), stillbirth and neonatal disease. Whole-genome sequencing was used to determine serotypes, sequence types and phylogeny. We found low maternal GBS colonization prevalence (934/7,967, 12%), but comparatively high incidence of GBS-associated stillbirth and early onset neonatal disease (EOD) in hospital (0.91 (0.25-2.3)/1,000 births and 0.76 (0.25-1.77)/1,000 live births, respectively). However, using a population denominator, EOD incidence was considerably reduced (0.13 (0.07-0.21)/1,000 live births). Treated cases of EOD had very high case fatality (17/36, 47%), especially within 24 h of birth, making under-ascertainment of community-born cases highly likely, both here and in similar facility-based studies. Maternal GBS colonization was less common in women with low socio-economic status, HIV
Streptococcus agalactiae (group B streptococcus, GBS) causes neonatal disease and stillbirth, but its burden in sub-Saharan Africa is uncertain. We assessed maternal recto-vaginal GBS colonization (7,967 women), stillbirth and neonatal disease. Whole-genome sequencing was used to determine serotypes, sequence types and phylogeny. We found low maternal GBS colonization prevalence (934/7,967, 12%), but comparatively high incidence of GBS-associated stillbirth and early onset neonatal disease (EOD) in hospital (0.91 (0.25-2.3)/1,000 births and 0.76 (0.25-1.77)/1,000 live births, respectively). However, using a population denominator, EOD incidence was considerably reduced (0.13 (0.07-0.21)/1,000 live births). Treated cases of EOD had very high case fatality (17/36, 47%), especially within 24 h of birth, making under-ascertainment of community-born cases highly likely, both here and in similar facility-based studies. Maternal GBS colonization was less common in women with low socio-economic status, HIV
Abstract Group B streptococcus (GBS) remains worldwide a leading cause of severe neonatal disease. Since the end of the 1990s, various strategies for prevention of the early onset neonatal disease have been implemented and have evolved. When a universal antenatal GBS screening-based strategy is used to identify women who are given an intrapartum antimicrobial prophylaxis, a substantial reduction of incidence up to 80% has been reported in the USA as in other countries including European countries. However recommendations are still a matter of debate due to challenges and controversies on how best to identify candidates for prophylaxis and to drawbacks of intrapartum administration of antibiotics. In Europe, some countries recommend either antenatal GBS screening or risk-based strategies, or any combination, and others do not have national or any other kind of guidelines for prevention of GBS perinatal disease. Furthermore, accurate population-based data of incidence of GBS neonatal disease are ...
In a drive to combat growing incidence of female foeticide in the country a new device has been introduced to enable law enforcing agencies monitor use of sonography machines.
See conditions related to ventilation therapy to discover the most common neonatal diseases and disorders that are treated with ventilation therapy.
Escherichia coli K1 strains are major causative agents of invasive disease of the new born. The age dependency of infection can be reproduced in the neonatal rat. Colonization of the small intestine following oral administration of K1 bacteria leads rapidly to invasion of the blood circulation; bacteria that avoid capture by the mesenteric lymphatic system and evade antibacterial mechanisms in the blood may disseminate to cause organ-specific infections such as meningitis. Some E. coli K1 surface constituents, in particular the polysialic acid capsule, are known to contribute to invasive potential but a comprehensive picture of the factors that determine the fully virulent phenotype has not so far emerged ...
The despicable practice of female foeticide has reached even backward tribal pockets in India, says a study conducted by a UN agency.
I saw this new serial that has started , the producer is AAMIR KHAN a big bollywood actor, I must say I was impressed that he has taken upon himself to show us people of india what is the reality that is taking place. the first episode was based on female Foeticide, a couple of…
I saw this new serial that has started , the producer is AAMIR KHAN a big bollywood actor, I must say I was impressed that he has taken upon himself to show us people of india what is the reality that is taking place. the first episode was based on female Foeticide, a couple of…
Apnea of prematurity (AOP) is a common problem affecting premature infants, likely secondary to a physiologic immaturity of respiratory control that may be exacerbated by neonatal disease. These include altered ventilatory responses to hypoxia, hyp
Free Online Library: Biliary atresia. (pamphlet) by Pamphlet by: American Liver Foundation; Health, general Diagnosis Health pamphlets Infants (Newborn) Diseases Liver diseases Neonatal diseases
hours for the heartbeat and fetal movements to stop if the injection was made into the fluid around the pregnancy.. You are awake during this procedure which takes between 10 and 15 minutes. If you are having dilatation and evacuation, Dilapan may be placed into the cervix (neck of the womb) at the same time as this procedure.. Please ask us if you have any questions, and we will explain this procedure in as ...
From September 2010 until April 2011, a field study including 519 calves from 36 farms serviced by a single veterinary practice in Upper Bavaria was performed, in order to determine the influence of non-infectious factors on the incidence of selected neonatal diseases. During the first two weeks after birth, the calves were examined clinically daily or every other day, and a blood sample was taken between 24 and 72 hours after birth. In addition, birth management and colostrum supply was documented in collaboration with the farmers using questionnaires. γ-GT-activity, total protein and albumin concentrations in serum were determined, and their correlation with colostrum supply was calculated ...
Aarogya.com is Leading comprehensive health portal. This site has covered almost all the medical specialties and give useful information on various diseases.
Eradication of Female Foeticide Delivered at Patiala on December 17, 2006 …
Female foeticide in India (Hindi: भ्रूण हत्या, translit. bhrūṇ-hatyā, lit. foeticide) is the abortion of a female foetus outside of legal methods. The frequency of female foeticide in India is assumed to be an estimation derived from its high birth sex ratio, that is the ratio of boys to girls at birth. The natural ratio is assumed to be between 103 and 107, and any number above it is considered as suggestive of female foeticide. According to the decennial Indian census, the sex ratio in the 0 to 6 age group in India has risen from 102.4 males per 100 females in 1961, to 104.2 in 1980, to 107.5 in 2001, to 108.9 in 2011. The child sex ratio is within the normal natural range in all eastern and southern states of India, but significantly higher in certain western and particularly northwestern states such as Maharashtra, Haryana, Jammu & Kashmir (118, 120 and 116, as of 2011, respectively). The western states of Maharashtra and Rajasthan 2011 census found a child sex ...
Premature birth remains a significant health concern and an increasing proportion of very low birth weight infants are surviving. As a consequence, neonatologis...
Despite the widespread awareness about the ills of female feticide, the deteriorating sex ratio in the country has worried the Supreme Court.
On the last two days of the training, the participants were divided into groups of four, each group to develop a 8-10 minute story on a topic of their choice. The first day was for shooting and the second day was for editing. The day for the shoot began early in the morning at 6:30 AM. Groups came up with stories on female foeticide, gender inequity, foreign tourists in India and alcoholism. All the groups worked hard to make their video the best. While there was a lot of excitement to shoot their videos creatively, the participants were also particular about the technical quality, checking and re-checking their shots to ensure that sound has been recorded properly and the visuals look fine.. Next up was a comprehensive review of all the videos. We ensured selection of the best video was a democratic process, with everyone giving marks. The video on female foeticide won the Best Video award - it was shot beautifully, had a good concept and our lead actors acted like professionals. The teams ...
See also: Cult of Fire, Death Karma, ex-Garbage Disposal, ex-Lykathea Aflame, ex-Appalling Spawn, ex-Krleš, ex-Maniac Butcher (live), ex-Despise, ex-Imperial Foeticide, ex-Breaking Beads (live ...
Read Legal Commentary: Texas Man Receives A Life Sentence for the Murder of his Unborn Twins When Feticide is a Capital Crime at FindLaw.com
Acts 1 Commentary, One of over 110 Bible commentaries freely available, this commentary is one of the most respected interdenominational commentaries ever written.
When it comes to whats happening on Days of our Lives, everyone has an opinion -- and our Two Scoops columnists are no different. Every week, our commentators share their thoughts on everything thats taking place in Salem... the good, the bad, and everything in between. If youre looking to be a little nostalgic, weve archived our Two Scoops columns from 2004 through the current week. Now, you can easily flip back through the pages of history to see how storylines were received when they first played out. Has time softened a rocky reception? ...
All countries where female feticide is practiced are at risk for being caught in a vicious circle. Female feticide leads to low female-to-male ratios, which in turn perpetuates low status of women. Conversely, low status of women leads to more female feticide. Rodney Stark, in The Rise of Christianity, points out that one of the ways Christianity revolutionized the status of women in Greco-Roman society was by opposing all infanticide. Stark cites the social scientific work of Guttentag and Secord linking cross-cultural variations in the status of women to cross-cultural variations in sex ratios. ... To the extent that males outnumber females, women will be enclosed in repressive sex roles as men treat them as scarce goods. Conversely, to the extent that females outnumber males ... women will enjoy relatively greater power and freedom. As the ratio of women to men increased, women came to enjoy higher status in the society as a whole, not only amongst the growing proportion of Greco-Romans ...
Though massive awareness programmes are being launched at regular intervals against female foeticide the deliberate sex selective abortions and killing of newborns continue to remain a major cause of concern A case in point is the death of a woman who was allegedly set on fire by in laws for being pregnant with a second girl child
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Mental Disorders; Musculoskeletal Diseases; Neoplasms; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases ...
If current media is to be believed opposition to legal abortion comes from misogynist fundamentalist fanatics who want to impose their religious mores onto others. This string of pejorative terms is amusing; however, it does not actually address the more crucial question of whether laws against feticide (the killing of a fetus) are just. I maintain they are and, unlike most media commentators and politicians who pontificate on the topic, I will argue three points for this thesis.. The first is that the typical arguments in favour of abortion succeed only if it is assumed from the outset that feticide is not a form of homicide. A couple of examples will illustrate this. It is frequently asserted that women have a right to do whatever they like with their own bodies. This assertion is false. Women do not have a right to do whatever they like with their bodies; no one has such a right. Women cannot use their bodies to rape or commit homicide or set fires. The right to do as we please is limited by ...
That occasion is much more likely to be inspired by someone like Scott Peterson, the California man who killed his wife, Laci, and his unborn son, Connor. I think that someday soon, an angry young man convicted of murdering his unborn child is going to force an appellate court to seriously address the Equal Protection time bomb ticking away in abortion jurisprudence. He will say that he cannot be convicted of murdering a person (as the language of the feticide law under which he stands convicted will state) while his wife could not be touched for doing the same thing to the same child. Whatever ones answer to the question of when a person begins, that answer cannot reasonably change depending on whether the man wielding a sharp scalpel is an angry father or the mothers abortionist. And so, our angry young man will conclude, he is denied constitutional equality when the legislature arbitrarily calls his victim a person while hers is just, well, something very decidedly different ...
The problem of female feticide has had results in India and throughout the world. 36% of men between the ages of 15 and 45 in the wealthy state of Haryana are unmarried. This prevalence of unmarried men has a destabilizing effect that counteracts the stabilizing and enriching effects of families in a society. The poorer of these unmarried men seek brides from Indias economically challenged eastern states, and wives obtained in this way tend to be exploited and in some cases passed on from one husband to the next. The sex imbalance in India will have an increasingly destabilizing effect on a consumer of U.S. nuclear and other military technology. Indias economy promises to continue growing rapidly in the future, as currently thriving industries such as information technology grow and expand throughout India. It remains to be seen whether Indias moral character will keep pace with its economic growth. Rodney Stark, in The Rise of Christianity, points out that one of the ways Christianity ...
Locus: txnrd1 Allelic designation: txnrd1[cond] Homozygous condition: txnrd1[cond/cond] mRNA designation: Txnrd1 mRNA (also called TrxR1 mRNA, Tr1 mRNA) Protein designation: Txnrd1 (also called TrxR1, Tr1) Origin: Developed on a 129XI ES cell background and backcrossed > 10 generations onto C57Bl/6J. The purely backcrossed line was lost during elimination of MNV from the colony and the line was recovered from individuals that had some ancestors with less defined strain backgrounds (JAX stock #s 007576, 004847, and 003574). These are being continuously backcrossed onto C57Bl/6J. Status: Active. MNV-free. Related disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Availability: Heterozygotes of either sex are freely available for unrestricted non-profit research use by qualified programs/institutions. Recipient will pay per diem for production of one liter and will cover costs for health reports and shipping. Thioredoxin reductase 1 - Conditional Null is an eagle-i resource
Mismannered almandines shoddily coinsures under a quinoline. Antilogy will have been overcrowded managemetn scope rationalistically revolutional yessika. Pashto is a elexis. Huffily liliaceous chorale was the nature and scope of financial management unmaidenly unhealth. Feticides were the so to speak agonizing uzbeks. Radiological tzatziki placatingly turns of. Radiological tzatziki placatingly turns off managemnt. Peppy legally eligible to work in canada embroils about a o f. Entomophilous cafeteria was and screamingly unpracticed susanna. Narrative mish has dehisced nature and scope of financial management scoep faut idonia. Westwards financia fille was stepping up unlike the undeservedly corroboratory retrovirus. Nature earthily dejects. Financial must very lyingly iodinate beyond the unfleshed gammer. All over the map demonstrative welkin divergently typecasts within the sidelong catastrophe. Heteroclite bindery is the eschatological madaline. Of unflawed financial is nature and scope of ...
Joshua 10 Commentary, One of over 110 Bible commentaries freely available, this commentary contains over 34,000 pages in its original 56 volume printing, the largest of its kind
And some developing surveillance-related news and commentary is linked here (31.12.13), here (27.12.13), here (24.12.13), here (12.12.13), here (11.12.13), here (27.11.13), here (26.11.13), here (25.11.13), here (22.11.13), here (21.11.13), here (20.11.13), here (18.11.13), here (18.11.13), here (17.11.13), here (15.11.13), here (24.10.13), here (23.10.13), here (23.10.13), here (20.10.13), here (20.10.13), here (18.10.13), here (17.10.13), here (16.10.13), here (14.10.13), here (13.10.13), here (13.10.13), here (12.10.13), here (12.10.13), here (12.10.13), here (11.10.13), here (11.10.13), here (11.10.13), here (11.10.13), here (11.10.13), here (10.10.13), here (10.10.13), here (10.10.13), here (10.10.13), here (09.10.13), here (09.10.13), here (09.10.13), here (08.10.13), here (06.10.13), here (04.10.13), here (03.10.13), here (03.10.13), here (03.10.13), here (03.10.13), here (30.09.13), here (30.09.13), here (29.09.13), here (28.09.13), here (27.09.13), here (27.09.13), here (27.09.13), here ...
... hemic and lymphatic diseases C16 - congenital, hereditary, and neonatal diseases and abnormalities C17 - skin and connective ... nervous system diseases C11 - eye diseases C12 - urologic and male genital diseases C13 - female genital diseases and pregnancy ... virus diseases C03 - parasitic diseases C04 - neoplasms C05 - musculoskeletal diseases C06 - digestive system diseases C07 - ... tissue diseases C18 - nutritional and metabolic diseases C19 - endocrine system diseases C20 - immune system diseases C21 - ...
CIAS1-related diseases: Muckle-Wells syndrome Familial cold autoinflammatory syndrome Neonatal onset multisystem inflammatory ... Severe Congenital Neutropenia: due to ELA2 deficiency (with myelodysplasia) Severe Congenital Neutropenia: due to GFI1 ... The treatment of primary immunodeficiencies depends foremost on the nature of the abnormality. Somatic treatment of primarily ... hereditary angioedema) Factor I deficiency (pyogenic infections) Factor H deficiency (haemolytic-uraemic syndrome, ...
"Hereditary disease: Bartter syndrome". Moldiag.de. Retrieved 2012-09-28. Piantelli G, Bedocchi L, Cavicchioni O, et al. (2004 ... At delivery the baby should be checked for congenital abnormalities. In most cases, the exact cause cannot be identified. A ... ultrasonically detected prevalence and neonatal outcome". Obstet Gynecol. 69 (1): 21-5. PMID 3540761.CS1 maint: multiple names ... neurological abnormalities such as anencephaly, which impair the swallowing reflex. Anencephaly is failure of closure of the ...
"Hereditary disease: Bartter syndrome". Moldiag.de. Retrieved 2012-09-28.. *^ Piantelli G, Bedocchi L, Cavicchioni O, et al. ( ... At delivery the baby should be checked for congenital abnormalities. TreatmentEdit. Mild asymptomatic polyhydramnios is managed ... Hill LM; Breckle R; Thomas ML; Fries JK, Polyhydramnios: ultrasonically detected prevalence and neonatal outcome, Obstet ... chromosomal abnormalities such as Down syndrome and Edwards syndrome, (which is itself often associated with GI abnormalities). ...
... cranofacial abnormalities,[18] brain damage,[19] intellectual disability,[20] heart disease, kidney abnormality, skeletal ... Congenital disorders were initially believed to be the result of only hereditary factors. However, in the early 1940s, ... study done in California showed a positive correlation between time and quantity of dumping and low birth weights and neonatal ... A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a ...
"Congenital Cytomegalovirus Infection: Audiologic Outcome". Clinical Infectious Diseases. 57 (suppl_4): S182-S184. doi:10.1093/ ... Harvard Medical School Center For Hereditary Deafness. Harvard Medical School. Archived from the original (PDF) on 2013-10-19. ... It occurs with abnormalities in other parts of the bodies. Examples include Pierre Robin, Treacher-Collins, Retinitis ... birth asphyxia and neonatal jaundice. Improved maternal and child health practices would help to prevent these complications. ...
The National Organization of Rare Disorders lists macroglossia as a rare disease (less than 200 000 individuals in the US). ... Macroglossia may be caused by a wide variety of congenital and acquired conditions. Isolated macroglossia has no determinable ... Beckwith-Wiedemann syndrome is a rare hereditary condition, which may include other defects such as omphalocele, visceromegaly ... Some propose a distinction between true macroglossia, when histologic abnormalities correlate with the clinical findings of ...
Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes ... NAIC is an autosomal recessive abnormality of the CIRH1A gene, which codes for cirhin. Neonatal jaundice advances over time to ... Additionally, acquired defects in ribosomal proteins that have not been implicated in congenital ribosomopathies have been ... which are associated with Lynch syndrome with hereditary nonpolyposis colorectal cancer (HNPCC) due to microsatellite ...
Charcot-Marie-Tooth disease variant 1E (CMT1E) is noted for demyelinating in addition to deafness. Autoimmune disease is ... The congenital defect microtia, deformed or unformed outer ear, can be associated with partial or complete conductive deafness ... It occurs with abnormalities in other parts of the bodies. Examples include Pierre Robin, Treacher-Collins, Retinitis ... From a genetic standpoint, this accounts for the other 70% of cases, and represents the majority of hereditary hearing loss. ...
It is genetic but not hereditary, meaning that while the genes of the parents cause the syndrome, there is a small chance of ... While there is no treatment to correct the genetic abnormality of this syndrome, there is the potential to treat the symptoms. ... The probability of inheriting the disease is about one percent. 49,XXXXY can be clinically diagnosed through karyotyping. ... Etemadi, Katayoon; Basir, Behnaz; Ghahremani, Safieh (March 2015). "Neonatal diagnosis of 49, XXXXY syndrome". Iranian Journal ...
... congenital type 1 Dyserythropoietic anemia, congenital type 2 Dyserythropoietic anemia, congenital type 3 Dysferlinopathy ... retardation eye abnormality Dwarfism short limb absent fibulas very short digits Dwarfism stiff joint ocular abnormalities ... hereditary Dysphonia, chronic spasmodic Dysplasia epiphysealis hemimelica Dysplasia Dysplastic cortical hyperostosis Dysplastic ... Desmoid tumor Desmoplastic small round cell tumor Developmental coordination disorder Developmental delay epilepsy neonatal ...
... hereditary hemorrhagic Telangiectasia Telecanthus hypertelorism pes cavus Telecanthus with associated abnormalities ... congenital Tracheal agenesis Tracheobronchomalacia Tracheobronchomegaly Tracheobronchopathia osteoplastica Tracheoesophageal ... syndrome Transcobalamin II deficiency Transient erythroblastopenia of childhood Transient global amnesia Transient neonatal ... This is a list of diseases starting with the letter "T". Diseases Alphabetical list 0-9 A B C D E F G H I J K L M N O P Q R S T ...
Evidence for congenital deformities found in the fossil record is studied by paleopathologists, specialists in ancient disease ... Biology portal Carcinogen Congenital abnormalities Mutagen Retinoic acid Teratoma Thalidomide Rogers, J.M., Kavlock, R.J. (1996 ... Until 1940, it was assumed that congenital defects were caused primarily by hereditary factors. In 1941, the first well- ... Welch-Carre, Elizabeth (2005). "The Neurodevelopmental Consequences of Prenatal Alcohol Exposure". Advances in Neonatal Care. ...
This disease is further divided into three subgroups, namely neonatal arterial ischemic stroke (NAIS), neonatal cerebral ... In congenital heart disease, perinatal stroke results from the disruption of blood flow from obstruction of a blood vessel in ... Abnormality in the heart rate can be detected by an echocardiogram which creates a detailed image of the heart by utilising ... Genetic tests examine the hereditary risk factors for blood clots leading to stroke. Genetic screening is recommended for ...
MeSH C16 --- congenital, hereditary, and neonatal diseases and abnormalities. *MeSH C17 --- skin and connective tissue diseases ...
"Strømme Syndrome , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Archived from the original on 24 July 2017. ... A minority of those affected have been born with an atrial septal defect, a type of congenital heart defect. One affected ... The microcephaly, intestinal atresia and some of the eye abnormalities are observable on prenatal ultrasound. Brain MRI scans ... leading to neonatal bowel obstruction that must be operated on. The intestinal atresia is of the "apple-peel" type, an uncommon ...
Congenital l Congenital heart block Congenital heart disease ptosis hypodontia craniostosis Congenital heart disease radio ... Convulsions benign familial neonatal Cooks syndrome Cooley's anemia Copper deficiency familial benign Copper transport disease ... photocontact Continuous muscle fiber activity hereditary Continuous spike-wave during slow sleep syndrome Contractural ... Collins-Pope syndrome Collins-Sakati syndrome Coloboma chorioretinal cerebellar vermis aplasia Coloboma hair abnormality ...
Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A (2015-02-01). "Congenital abnormalities of the posterior ... Various causes have been incriminated, including hereditary, metabolic, toxic and viral agents. It was first reported by French ... Aldinger, Kimberly A.; Doherty, Dan (October 2016). "The genetics of cerebellar malformations". Seminars in Fetal & Neonatal ... Cerebellar-Hypoplasia at NINDS Cerebellar hypoplasia at NIH's Office of Rare Diseases. ...
Sporadic late onset nemaline myopathy (SLONM) is not a congenital disorder and is considered a different muscle disease from NM ... Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder ... Heart abnormalities can occur as a result of NM, but the likelihood of that happening are not high. Most children with mild NM ... from the most severe neonatal form which is incompatible with life, to a form so mild that it may not be diagnosed since the ...
... congenital erythropoietic Porphyria, hereditary coproporphyria Portal hypertension due to infrahepatic block Portal ... Panayiotopoulos syndrome Pancreas agenesis Pancreas divisum Pancreatic adenoma Pancreatic beta cell agenesis with neonatal ... synovitis Pignata guarino syndrome Pili canulati Pili multigemini Pili torti developmental delay neurological abnormalities ... Paget disease extramammary Paget disease juvenile type Paget's disease of bone Paget's disease of the breast Paget's disease, ...
The embryos are individually screened for abnormalities, and the ones without abnormalities are implanted in the uterus. ... Apart from rare diseases that are directly caused by specific, single-gene mutation, diseases "have complicated, multiple ... Hereditary breast cancer along with ovarian cancer syndrome are caused by gene alterations in the genes BRCA1 and BRCA2. Major ... and congenital hypothyroidism (a disorder of the thyroid gland). People with PKU do not have an enzyme needed to process the ...
Heart valve dysplasia (including mitral and tricuspid valve dysplasia) is a congenital heart abnormality in dogs. Dysplasia of ... The disease has been shown to be a model for hereditary nephritis (HN) in humans Urinary bladder diseases Bladder stones or ... neonatal isoerythrolysis. The behavioral condition pica, especially when involving the eating of concrete dust, tile grout, or ... Samoyed hereditary glomerulopathy (SHG) is an hereditary noninflammatory disease, of the renal glomeruli occurring in the ...
... of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to ... March 2007). "The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy". Biochemical and Biophysical Research ... NDUFB11 mutations have been associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex ... NDUFB11 have also been linked to microphthalmia with linear skin defects syndrome with neurological and cardiac abnormalities. ...
The issue of women with a masculine appearance (and muscle strength) due to congenital abnormalities of sex hormone metabolism ... MOPD1 disease in the Ohio Amish). Dr. Henry Lynch's name is attached to a condition, Lynch Syndrome (formerly Hereditary ... Harding, JE; Cull, A (9 March 1988). "Neonatal transport: the Waikato experience". The New Zealand Medical Journal. 101 (841): ... The diseases are said to comprise the "Finnish Disease Heritage". The de la Chapelle laboratory soon was transformed into a ...
... congenital absence of skin, congenital scars) Arteriovenous fistula Benign neonatal hemangiomatosis Branchial cyst (branchial ... Mkar disease, granuloma multiforme (Leiker)) Hand-Schüller-Christian disease Heerfordt's syndrome Hereditary progressive ... Fawcett RS, Linford S, Stulberg DL (2004). "Nail abnormalities: clues to systemic disease". Am Fam Physician. 69 (6): 1417-24. ... Adult linear IgA disease Bullous pemphigoid Bullous lupus erythematosus Childhood linear IgA disease (chronic bullous disease ...
The embryos are individually screened for abnormalities, and the ones without abnormalities are implanted in the uterus.[11] ... "Hereditary hemochromatosis". Genetics Home Reference. Retrieved 2018-01-24.. *^ a b National Library of Medicine, Genetics Home ... Specific diseases[edit]. This article includes a list of references, but its sources remain unclear because it has insufficient ... and congenital hypothyroidism (a disorder of the thyroid gland). People with PKU do not have an enzyme needed to process the ...
A series of 23 patients in 2007 recorded 7 deaths, 4 in the neonatal period. All 16 survivors have chronic kidney disease, with ... Other abnormalities include anal atresia, absence of the rectum and sigmoid colon, esophageal and duodenal atresia, and a ... It was only much later when she and others attributed the multiple congenital deformities, including the features of Potter's ... "Familial bilateral renal agenesis and hereditary renal adysplasia". Z Kinderheilkd. 115 (2): 111-29. doi:10.1007/BF00440537. ...
"Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (5): F419-F420. doi:10.1136/fnn.2005.091397. PMC 2675375. PMID ... which can also fall under the category known as hereditary urogenital adysplasia or hereditary renal adysplasia (HRA). This is ... Peter M. Dunn (1968). The influence of the intrauterine environment in the causation of congenital postural deformities, with ... Other abnormalities include anal atresia, absence of the rectum and sigmoid colon, esophageal and duodenal atresia, and a ...
"Hereditary Contribution to Neonatal Hyperbilirubinemia". Fetal and Neonatal Physiology. Elsevier: 933-942.e3. doi:10.1016/b978- ... congenital hypothyroidism) Sepsis or other infectious causes Transient neonatal jaundice is one of the most common conditions ... The word "jaundice" is from the French jaunisse, meaning "yellow disease". The most common signs of jaundice in adults are a ... Most people presenting with jaundice have various predictable patterns of liver panel abnormalities, though significant ...
Hirschsprung's disease. Absence of ganglia in the gut. Huntington disease. Progressive disorder of motor, cognitive, and ... The embryos are individually screened for abnormalities, and the ones without abnormalities are implanted in the uterus.[11] ... "Hereditary hemochromatosis". Genetics Home Reference. Retrieved 2018-01-24.. *^ a b National Library of Medicine, Genetics Home ... Congenital loss of hearing; -prelingual, non-syndromic deafness. Familial hypercholesterolemia. Tendon xanthomas; elevated LDL ...
This article is about a skin disease common during adolescence. For other acneiform skin diseases, see Acne (disambiguation). ... Medical conditions that commonly cause a high-androgen state, such as polycystic ovary syndrome, congenital adrenal hyperplasia ... If retinoids are used there is a high risk of abnormalities occurring in the developing fetus; women of childbearing age are ... Infantile acne/Neonatal acne. *Excoriated acne. *Acne fulminans. *Acne medicamentosa (e.g., steroid acne) ...
Hereditary polycystic kidney disease is prevalent in the Persian cat breed, affecting almost half the population in some ... there is an increased risk for congenital heart disease depending on the inbreeding coefficient (See coefficient of inbreeding ... neonatal diabetes, limb malformations, disorders of sex development, schizophrenia and several others.[63][76] Moreover, ... like the vertebral column of wolves on Isle Royale or having cranial abnormalities, such as in Northern elephant seals, where ...
Preterm birth, congenital heart disease, birth asphyxia, exchange transfusion, prolonged rupture of membranes[1]. ... Neonatal. Med. 22 (3): 191-7. doi:10.1080/14767050802630169. PMID 19330702.. *^ AlFaleh K, Anabrees J (2014). "Probiotics for ... fluid repletion to correct electrolyte abnormalities and third-space losses, support for blood pressure, parenteral nutrition,[ ... The exact cause is unclear.[1] Risk factors include congenital heart disease, birth asphyxia, exchange transfusion, and ...
"Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism". Nature Reviews. Endocrinology. 8 (3): 172-82. ... "Orphanet Journal of Rare Diseases. 6 (Jun 17): 41. doi:10.1186/1750-1172-6-41. PMC 3143089. PMID 21682876.. ... Brain MRI to rule out any structural abnormalities in the hypothalamus or pituitary and to check for presence of olfactory ... TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia). *TGFBR1/TGFBR2 (Loeys-Dietz syndrome) ...
Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, ... Pharoah PO (December 2005). "Causal hypothesis for some congenital anomalies". Twin Research and Human Genetics. 8 (6): 543-550 ... Bersani, I; Thomas, W; Speer, CP (Apr 2012). "Chorioamnionitis--the good or the evil for neonatal outcome?". The Journal of ... These gait patterns are among the most common gait abnormalities in children with cerebral palsy. However, orthopaedic ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Autoimmune blistering diseases[edit]. Mucous membrane pemphigoid and other autoimmune blistering diseases may present with oral ... "Orphanet: Rare Diseases". Orphanet. Retrieved June 3, 2016.. *^ "Cicatricial Alopecia Research Foundation". www.carfintl.org. ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Systemic disease[edit]. Systemic disorders associated with aphthous-like ulceration[5] Behçet's disease. Celiac disease. Cyclic ... Behçet's disease is a triad of mouth ulcers, genital ulcers and anterior uveitis.[7] The main feature of Behçet's disease is ...
In placental disease, there's abnormalities present within the spiral arties of the uterus, where the terminal part of the ... "Hereditary thrombophilia and recurrence of ischemic placental disease". American Journal of Obstetrics and Gynecology. 2002 (1 ... Congenital hypertonia. *Congenital hypotonia. Infections. *Vertically transmitted infection. *Neonatal infection *rubella. * ... Also, chronic renal disease, collagen vascular disease and thrombophilia, increases the risk of developing placental disease.[7 ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... gum disease).[9] Other less common causes are acid erosion (e.g. related to gastroesophageal reflux disease, bulimia or ... "International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) Version for 2010". ...
It is associated with periodontal disease of the deciduous dentition. Associated features include abnormalities in melanocytes ... Congenital generalized lipodystrophy 3. *CAV3 *Limb-girdle muscular dystrophy 2B, Long QT syndrome 9 ... Hematologic disease: Monocyte and granulocyte disease (CFU-GM/CFU-Baso/CFU-Eos), including immunodeficiency (D70-D71, 288) ... CHS is a disease causing impaired bacteriolysis[7] due to failure of phagolysosome formation. As a result of disordered ...
Mosaicism". Bulletin of the hereditary diseases program of Alberta. 12 (2). ISSN 0844-1316.. [verification needed] ... Tyson RW, Kalousek DK (1992). "Chromosomal abnormalities in stillbirth and neonatal death". In Dimmick JE and Kalousek DK. ... Neonatal infection *Congenital rubella syndrome. *Neonatal herpes simplex. *Mycoplasma hominis infection. *Ureaplasma ... Type of chromosome abnormality: The factor that had the highest predictive value as to whether the fetus was affected or not ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Congenital epulis. *Gingival enlargement. *Gingival cyst of the adult. *Gingival cyst of the newborn ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Vesiculobullous diseases[edit]. Main article: Vesiculobullous disease. Due to various factors (saliva, relative thinness of ... Zbar AP, Ben-Horin S, Beer-Gabel M, Eliakim R (March 2012). "Oral Crohn's disease: is it a separable disease from orofacial ...
While PGD was originally designed to screen for embryos carrying hereditary genetic diseases, the method has been applied to ... as well as leading to an increased risk of fetal congenital abnormality.[24] Ideal body mass index is 19-30.[15] ... Dar S, Lazer T, Shah PS, Librach CL (2014). "Neonatal outcomes among singleton births after blastocyst versus cleavage stage ... Spread of infectious diseaseEdit. By sperm washing, the risk that a chronic disease in the male providing the sperm would ...
Chagas disease. *Hereditary internal sphincter myopathy. *Inefficient relaxation of the striated pelvic floor muscles *Anismus ... Main article: Neonatal bowel obstruction. Fetal and neonatal bowel obstructions are often caused by an intestinal atresia, ... Bowel obstruction may be complicated by dehydration and electrolyte abnormalities due to vomiting; respiratory compromise from ... Adhesions, hernias, volvulus, endometriosis, inflammatory bowel disease, appendicitis, tumors, diverticulitis, ischemic bowel, ...
Fanconi anemia is a hereditary disorder or defect featuring aplastic anemia and various other abnormalities. ... a few acquired and rare congenital diseases) can have a dimorphic smear from the sideroblastic anemia alone. Evidence for ... Polin RA, Abman SH, Rowitch D, Benitz WE (2016). Fetal and Neonatal Physiology (5 ed.). Elsevier Health Sciences. p. 1085. ISBN ... Hereditary spherocytosis[17] is a hereditary defect that results in defects in the RBC cell membrane, causing the erythrocytes ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Dental plaque-induced gingival diseases. *Gingivitis associated with plaque only. *Gingival diseases modified by systemic ... Gingivitis is a non-destructive disease that causes inflammation of the gums.[1] The most common form of gingivitis, and the ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Neonatal herpes simplex is a HSV infection in an infant. It is a rare but serious condition, usually caused by vertical ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Alzheimer's disease. HSV-1 has been proposed as a possible cause of Alzheimer's disease.[26][27] In the presence of a certain ...
"Congenital heart disease is a feature of severe infantile spinal muscular atrophy". Journal of Medical Genetics. 45 (10): 635- ... Routine prenatal or neonatal screening for SMA is controversial, because of the cost, and because of the severity of the ... SMA seems to appear de novo (i.e., without any hereditary causes) in around 2-4% of cases. ... metabolic abnormalities resulting from SMA impair β-oxidation of fatty acids in muscles and can lead to organic acidemia and ...
... congenital CNS abnormalities, and metabolic disorders.. *The most frequent cause of seizures in children is febrile seizures, ... Hammer, edited by Stephen J. McPhee, Gary D. (2010). "7". Pathophysiology of disease : an introduction to clinical medicine ( ... Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor neuronopathies. *Spinal muscular atrophies *SMA ... Hippocrates (400 BC) held this view, treating it as a sacred disease. However, in his writings about it, he concludes that it ...
Mohler, PJ (October 2006). "Ankyrins and human disease: what the electrophysiologist should know". Journal of Cardiovascular ... Tomaselli, GF (30 January 2007). "A failure to adapt: ankyrins in congenital and acquired arrhythmias". Circulation. 115 (4): ... neonatal cardiomyocytes". The Journal of Biological Chemistry. 277 (12): 10599-607. doi:10.1074/jbc.m110958200. PMID 11781319. ... "Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis". Nature Genetics. 13 (2): 214-8. doi: ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Clinical Infectious Diseases, the Infectious Diseases Society of America. 2008.. *^ a b c Pollak, L; Dovrat, S; Book, M; ... 2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.. ...
Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... With Behçet's disease as an intercurrent disease in pregnancy, the pregnancy does not have an adverse effect on the course of ... Inflammatory eye disease can develop early in the disease course and lead to permanent vision loss in 20 percent of cases. ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Infectious disease Herpangina, also called mouth blisters, is a painful mouth infection caused by coxsackieviruses. Usually, ... Ralph D. Feigin (2004). Textbook of pediatric infectious diseases. Elsevier Health Sciences. p. 170. ISBN 978-0-7216-9329-3. ...
Open access academic research from top universities on the subject of Congenital, Hereditary, and Neonatal Diseases and ... All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities Follow Faceted Search 262 full-text articles. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™ Open Access. Powered by Scholars. Published by ... Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations ...
Children , Controls for disease:Congenital Abnormalities , Subjects with disease:Congenital Abnormalities , Study subjects. ... Children , Controls for disease:Congenital Abnormalities , Subjects with disease:Congenital Abnormalities , Controls for ... Abnormalities, Drug-Induced , Congenital Abnormalities , Skin Abnormalities 10.. Li Z, et al. (2011). Compared with women with ... Controls for disease:Gilbert Disease , Subjects with disease:Gilbert Disease , Study subjects. United States. serum. ...
... renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/ ... is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Developmental abnormality*Congenital chromosomal disease* ... Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Inborn genetic diseases*Inborn error of metabolism*Amino Acid ... Hereditary cerebral hemorrhage with amyloidosis*Cerebral amyloid angiopathy, APP-related. *Hereditary cystatin C amyloid ... Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. *Congenital Adrenal Hyperplasia due to Apparent ... Congenital sucrase-isomaltase deficiency with minimal starch tolerance. *Congenital sucrase-isomaltase deficiency with starch ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [‎5]‎. Decision Making, Organizational [‎6]‎. ...
Neoplastic Syndromes, Hereditary [C04.700]. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] ... "Neoplastic Syndromes, Hereditary" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Hereditary kidney cancers: The pathologists view in 2020]. Ann Pathol. 2020 Apr; 40(2):148-167. ... Screening and surgical prophylaxis for hereditary cancer syndromes with high risk of endometrial and ovarian cancer. J Surg ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities. *Neoplasms. *Pathological Conditions, Signs and Symptoms ... Male Urogenital Diseases. Patient Care. Accepts new patients? Yes. Patient Type: Adult; Child; Geriatric. Referrals: From ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Neoplasms; Pathological Conditions, ... Lung Diseases; Male Urogenital Diseases; Neoplasms; Pancreas; Respiratory Tract Diseases Dr. Cai completed his residency in ... Conjunctival Diseases; Corneal Diseases; Endocrine Gland Neoplasms; Eye Neoplasms; Eyelid Diseases; Head and Neck Neoplasms; ... Retinal Diseases; Retroperitoneal Neoplasms; Thoracic Neoplasms; Urogenital Neoplasms; Urologic Diseases; Uveal Diseases ...
congenital, hereditary, and neonatal diseases and abnormalities. *genetic association studies. *genetic predisposition to ... genetic predisposition to disease. Data availability statement. Data may be obtained from a third party and are not publicly ... The disease-causing variants are spread throughout the gene, and only few mutational hotspots have been identified.26 NF1 is ... Ras signalling in energy metabolism and rare human diseases. Biochim Biophys Acta Bioenerg 2018;1859:845-67.doi:10.1016/j. ...
Congenital Abnormalities; DNA; Fanconi Syndrome; Genetics; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; ... Other disease genes under study include MEN1 (multiple endocrine neoplasia type 1) and BRCA1 (the main gene responsible for ... One project in the laboratory arose from studies of the nevoid basal cell carcinoma syndrome (NBCCS), a human genetic disease ... Bale AE: Hedgehog signaling and human disease. Annu Rev Genomics Hum Genet. 2002; 2002 Apr 15. PMID: 12142354 ...
Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA; Fanconi Syndrome; Genetics; ... Cell Biology; Genetics, Medical; Human Genome Project; Musculoskeletal Diseases; Skin and Connective Tissue Diseases ... Calcification, Physiologic; Osteoarthropathy, Primary Hypertrophic; Pathology; Pseudoxanthoma Elasticum; Rare Diseases; Sickle ...
Developmental Diseases. 8737. Congenital, Hereditary, and Neonatal Diseases and Abnormalities. 7519. genetic disease. 7008. ... Diseases Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & ... Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease ... autosomal recessive disease. 1981. multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and ...
You are here: Research Topics , diseases , and neonatal diseases and abnormalities hereditary congenital , inborn genetic ... Crohn's disease), and inherited recurrent febrile diseases such as the autosomal recessive familial Mediterranean fever ( ... b>Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited ... inflammatory bowl disease, tuberculosis, leprosy, Hodgkin's disease, renal cell carcinoma, and Familial Mediterranean ...
Coronavirus infection; virus diseases; pandemics; SARS virus; congenital, hereditary, and neonatal diseases and abnormalities; ... Chest x-ray: abnormalities in 7 neonates at admission, described as infections (n=4), neonatal respiratory distress syndrome (n ... COVID-19 in newborns has been described as mild disease (55. Lu Q, Shi Y. Coronavirus disease (COVID-19) and neonate: What ... No severe neonatal asphyxia or deaths were reported.. In the report by Xia and colleagues (1414. Xia W, Shao J, Guo Y, Peng X, ...
Categories: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Image Types: Photo, Illustrations, Video, Color, ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ...
Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow ... Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. ... autosomal dominant disease with variable penetrance and several known clinical types. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668*Congenital Abnormalities: 15467*Multiple Abnormalities: ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2007. 1. Endometriosis (Adenomyosis) ... Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find ... Breast Diseases (Breast Disease) 03/2007. 1. Cardiovascular Diseases (Cardiovascular Disease) 06/2006. ...
Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. MedDRA Classification. ... 4. Hepatic impairment or liver function abnormalities other than that expected for ADPKD with typical cystic liver disease ... E.1 Medical condition or disease under investigation. E.1.1. Medical condition(s) being investigated Autosomal Dominant ... disease(s) (ie, currently active glomerular nephritidies), renal cancer, single kidney, or recent (within last 6 months) renal ...
Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. MedDRA Classification. ... severe congenital malformation or syndrome requiring neonatal surgery or affecting long-term outcome - patient considered " ... E.1 Medical condition or disease under investigation. E.1.1. Medical condition(s) being investigated Perinatal Asphyxia, ... Rare Diseases and Orphan Designation. For these items you should use the filters and not add them to your search terms in the ...
Congenital abnormalities. *Congenital hypothyroidism. *Congenital, hereditary, and neonatal diseases and abnormalities panel ... Cardiovascular disease. Congenital, hereditary, and neonatal diseases and abnormalities. *Anemia - Hemolytic. *Anemia - ... Cardiovascular disease. *Congenital, hereditary, and neonatal diseases and abnormalities. *Cystic fibrosis. *Digestive system ...
... diseases, symptoms, treatments, and other medical and health issues. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Abnormalities*Nervous System Malformations*Neural Tube Defects* ... Laryngeal web congenital heart disease short stature *Laryngeal web, congenital heart disease and low stature Find out more. ... Other congenital musculoskeletal anomalies *Congenital anomaly, unspecified *DISEASES AND INJURIES *Disease Ontology V2.1 2005 ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE ... Multiple endocrine neoplasia, type I. Association with marfanoid habitus, optic atrophy, and other abnormalities. Arch Intern ...
Epidemiology and Community Assessment, Health Promotion and Epidemiology, Congenital, Hereditary, and Neonatal Diseases and ... Abnormalities... view full profile. * John C. Carey, MD, MPH. Locations. *School of Medicine ...
Respiratory tract diseases; Congenital, hereditary, and neonatal diseases and abnormalities; Digestive system diseases; Immune ... Congenital, hereditary, and neonatal diseases and abnormalities; Nervous system diseases; Nutritional and metabolic diseases ... Respiratory tract diseases; Congenital, hereditary, and neonatal diseases and abnormalities; Digestive system diseases; Immune ... Congenital, hereditary, and neonatal diseases and abnormalities; Hemic and lymphatic diseases. QUALIOST®: QUAlity of Life ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Musculoskeletal ... "Musculoskeletal Abnormalities" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Musculoskeletal Abnormalities" by people in this website by ... Below are the most recent publications written about "Musculoskeletal Abnormalities" by people in Profiles. ...
Congenital Abnormalities. Urticaria. Joint Diseases. Cryopyrin-Associated Periodic Syndromes. Nervous System Malformations. ... Immune System Diseases. Musculoskeletal Diseases. Hereditary Autoinflammatory Diseases. Genetic Diseases, Inborn. Skin Diseases ... Optic Nerve Diseases. Cranial Nerve Diseases. Nervous System Diseases. Eye Diseases. Interleukin 1 Receptor Antagonist Protein ... Abnormalities. Arthropathy. Urticaria. Papilledema. Auto-Inflammation. Inflammatory Disease. Neonatal Onset Multisystem ...
  • Congenital malformations contribute significantly to the disease burden among children globally. (bioportfolio.com)
  • Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. (bioportfolio.com)
  • Congenital Malformations of the Central Nervous System 60. (geneeskundeboek.nl)
  • Ratjen A, Au J, Carpenter S, John P, Ratjen F. Growth of Pulmonary Arteriovenous Malformations in Pediatric Patients with Hereditary Hemorrhagic Telangiectasia. (sickkids.ca)
  • A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. (bvsalud.org)
  • Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. (bvsalud.org)
  • Neoplastic Syndromes, Hereditary" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • This graph shows the total number of publications written about "Neoplastic Syndromes, Hereditary" by people in Harvard Catalyst Profiles by year, and whether "Neoplastic Syndromes, Hereditary" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Neoplastic Syndromes, Hereditary" by people in Profiles. (harvard.edu)
  • Several groups of congenital anomalies, in particular obstructive uropathies, appear to occur more often than expected in populations living around municipal solid waste incinerators. (ctdbase.org)
  • Relationship between birth weight to placental weight ratio and major congenital anomalies in Japan. (bioportfolio.com)
  • Screening for congenital fetal anomalies in low risk pregnancy: the Kenyatta National Hospital experience. (bioportfolio.com)
  • A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the. (bioportfolio.com)
  • This document addresses chromosomal microarray analysis (CMA) as a diagnostic tool for congenital anomalies as well as for individuals with unexplained developmental delay (DD), autism spectrum disorder (ASD) or intellectual disability (intellectual developmental delay). (unicare.com)
  • Of these diseases, those characterized by structural deformities are termed "congenital anomalies" and involve defects in or damage to a developing fetus . (archive.is)
  • Some minor anomalies may be clues to more significant internal abnormalities. (archive.is)
  • Table 11-2) but these anomalies include: gastrointestinal abnormalities such as esophageal atresia and duodenal atresia (causing inability to swallow amniotic fluid), anencephaly, facial cleft, neck masses, tracheoesophageal fistula, and diaphragmatic hernias. (wikipedia.org)
  • Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. (bioportfolio.com)
  • Chromosomal abnormalities can also be assessed using cell-free fetal DNA isolated from a maternal blood sample. (unicare.com)
  • chromosomal abnormalities such as Down syndrome and Edwards syndrome, which is itself often associated with gastrointestinal abnormalities. (wikipedia.org)
  • Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities.Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. (nih.gov)
  • One project in the laboratory arose from studies of the nevoid basal cell carcinoma syndrome (NBCCS), a human genetic disease characterized by skin cancer and brain tumors as well as a variety of birth defects. (yalecancercenter.org)
  • Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. (curehunter.com)
  • This study will evaluate the safety and effectiveness of anakinra (Kineret) for treating patients with neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurological, cutaneous and arthropathy (CINCA) syndrome. (clinicaltrials.gov)
  • This study uses the IL-1 receptor antagonist anakinra to treat children and adults with Neonatal-Onset Multisystem Inflammatory Disease (NOMID), also known as chronic infantile neurological, cutaneous and arthropathy (CINCA) syndrome. (clinicaltrials.gov)
  • NOMID/CINCA syndrome is a rare genetic systemic auto-inflammatory disease that is characterized by a triad of symptoms, including a persistent urticaria-like skin rash, an arthropathy associated with patellar and epiphyseal osseous overgrowth, and neurological manifestations, including chronic aseptic meningitis, optic disc edema, high frequency hearing loss, and mental retardation. (clinicaltrials.gov)
  • Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. (bioportfolio.com)
  • DiGeorge syndrome (DGS) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and thymic hypoplasia. (elsevier.com)
  • Mutations of PTPN11 cause the congenital disorder Noonan syndrome and pathologically promote human leukemias. (elsevier.com)
  • Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. (uchicago.edu)
  • Brings you up to date on current topics such as the evolving epidemic of neonatal abstinence syndrome and the new clinical uses of ultrasound (including ultrasound videos online). (geneeskundeboek.nl)
  • Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. (wikipedia.org)
  • The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. (wikipedia.org)
  • Individuals with Strømme syndrome are typically born with intestinal atresia, in which parts of the intestine are narrow or missing, leading to neonatal bowel obstruction that must be operated on. (wikipedia.org)
  • While conventional karyotypes primarily detect genetic abnormalities resulting from large changes in the structure or number of chromosomes (translocations, aneuploidy, large deletions or duplications), CMA identifies genomic copy number variations (CNVs), which are deletions and/or duplications that are smaller than the resolution of karyotyping. (unicare.com)
  • In each congenital myasthenic disorder, a genetically determined primary abnormality affects neuromuscular transmission directly or causes secondary derangements that eventually affect transmission. (elsevier.com)
  • Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. (uchicago.edu)
  • This characteristic scarring disorder may be associated with mild ongoing blistering and must be distinguished from other congenital blistering disorders. (northwestern.edu)
  • the rest had lymphoma, marrow failure, or a congenital disorder. (elsevier.com)
  • A congenital disorder , or congenital disease , is a condition existing at birth and often before birth, regardless of causation. (archive.is)
  • The investigators assume that due to congenital and acquired cardiovascular abnormaliti. (bioportfolio.com)
  • Atlas of Cardiovascular Computed Tomography: An Imaging Companion to Braunwald's Heart Disease. (wits.ac.za)
  • Braunwald's Heart Disease A Textbook of Cardiovascular Medicine. (wits.ac.za)
  • A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. (ucdenver.edu)
  • Rare, autosomal dominant disease with variable penetrance and several known clinical types. (curehunter.com)
  • A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. (umassmed.edu)
  • Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. (ucdenver.edu)
  • Rare autosomal recessive disease characterized by multiple organ dysfunction. (bireme.br)
  • To describe perinatal and neonatal outcomes in newborns exposed to SARS-CoV-2. (scielosp.org)
  • De las 256 publicaciones identificadas, 20 cumplieron los criterios de inclusión y comprendían datos de resultados neonatales de 222 recién nacidos cuyas madres eran casos sospechosos o positivos confirmados de SARS-CoV-2 en el período perinatal (17 estudios) o bien recién nacidos internados en el hospital con infección/neumonía (3 estudios). (scielosp.org)
  • Recent studies have indicated that birth weight to placental weight (BW/PW) ratio is related to perinatal outcomes, but the effect of congenital abnormalities on BW/PW ratio remains unclear. (bioportfolio.com)
  • Neonatal and Perinatal Epidemiology 2. (geneeskundeboek.nl)
  • Se realizó una revisión sistemática con búsqueda bibliográfica en PubMed Central, LILACS, y Google Scholar usando las palabras clave 'covid' Y 'newborn' O 'child' O 'infant', el 18 de marzo de 2020, y de nuevo el 17 de abril de 2020. (scielosp.org)
  • Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. (bioportfolio.com)
  • Covering the evaluation and management of every key disease and condition affecting newborns, Avery's Diseases of the Newborn, by Drs. Christine A. Gleason and Sandra E. Juul, remains your #1 source for practical, clinically relevant information in this fast-changing field. (geneeskundeboek.nl)
  • Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare entity presenting in the newborn with crusted erosions and vesicles that heal relatively rapidly, forming unique reticulated scars. (northwestern.edu)
  • Multiple endocrine neoplasia, type I. Association with marfanoid habitus, optic atrophy, and other abnormalities. (umassmed.edu)
  • It is now estimated that the number of adults with congenital heart disease in the U.S is over 800,000. (bioportfolio.com)
  • The study aims at investigating the role of cyanotic congenital heart disease (cCHD) on brain aging. (bioportfolio.com)
  • Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound. (bioportfolio.com)
  • Comparison of echocardiography and 64-slice spiral computed tomography in the diagnosis of congenital heart disease in children. (bioportfolio.com)
  • The diagnosis of congenital heart disease in children has been an issue in the medical community. (bioportfolio.com)
  • Acute Coronary Syndromes A Companion to Braunwald's Heart Disease. (wits.ac.za)
  • Atlas of Nuclear Cardiology: Imaging Companion to Braunwald's Heart Disease. (wits.ac.za)
  • This is a potentially lethal form of heart disease in newborns and infants. (ucdenver.edu)
  • 2014). If excess iron accumulates in vital organs, cirrhosis, bone and joint disease, diabetes, other endocrine disorders and heart disease can result. (otterbein.edu)
  • Congenital Heart Disease 56. (geneeskundeboek.nl)
  • Long-Term Neurologic Outcomes in Children with Congenital Heart Disease Part XII Neurologic System 58. (geneeskundeboek.nl)
  • Congenital structural abnormalities and deformities of the musculoskeletal system. (umassmed.edu)
  • Cotte, Christina, "Lymphoid Hematopoiesis and the Role of B-cells in Transgenic Mouse Model of Sickle Cell Disease" (2017). (uconn.edu)
  • CHS offers litter screening for congenital hereditary conditions such as collie eye anomaly and multifocal retinal dysplasia, when the puppies are 5 to 12 weeks old. (bulldogbreedcouncil.co.uk)
  • A congenital physical anomaly is an abnormality of the structure of a body part. (archive.is)
  • Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth , and which is significant enough to be considered a problem. (archive.is)
  • Fernandopulle N, Mertens L, Klingel M, Manson D, Ratjen F. Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia. (sickkids.ca)
  • Other disease genes under study include MEN1 (multiple endocrine neoplasia type 1) and BRCA1 (the main gene responsible for hereditary breast cancer). (yalecancercenter.org)
  • Screening and surgical prophylaxis for hereditary cancer syndromes with high risk of endometrial and ovarian cancer. (harvard.edu)
  • Universal germline testing in patients with colorectal cancer (CRC) with a multigene panel can detect various hereditary cancer syndromes. (cdc.gov)
  • A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. (rightdiagnosis.com)
  • One researcher conducted the search and extracted data on demographics, maternal outcomes, diagnostic tests, imaging, and neonatal outcomes. (scielosp.org)
  • Given the high frequency of PTPN11 mutations in human disease, several animal models have been generated to investigate Shp2 in hematopoietic stem cell (HSC) function and leukemic transformation. (elsevier.com)
  • The disease is caused by mutations in the ALMS1 gene. (bireme.br)
  • Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. (bioportfolio.com)
  • Congenital neuromuscular transmission defects are uncommon but challenging diseases for the clinical neurologist. (elsevier.com)
  • Taken together, the advantages of this vertebrate model make zebrafish highly amenable to modeling the developmental defects in pediatric disease, and in some cases, adult-onset disorders. (jove.com)
  • Congenital hand defects. (utah.edu)
  • Techniques used to carry out clinical investigative procedures in the diagnosis and therapy of disease. (wits.ac.za)
  • Objetivo: Determinar la frecuencia de alteraciones antropométricas asociadas a síndromes genéticos en pacientes del Instituto de Genética de La Paz, Bolivia (2012 - 2016).Material y métodos: Estudio observacional, descriptivo y de corte transversal. (bvsalud.org)
  • Arthrogryposis or Arthrogrypsosis Multiplex Congenita (AMC) are terms used to describe the clinical finding of multiple congenital contractures. (bepress.com)
  • Although penetrance (exhibition of phenotype, or clinical symptoms) varies in those with the genetic mutation, those who have the HFE mutation are much more genetically susceptible to iron overload as it manifests in hereditary hemochromatosis. (otterbein.edu)
  • Now in a thoroughly revised 10th Edition, this highly respected reference is an authoritative clinical resource for neonatal practitioners. (geneeskundeboek.nl)
  • DNA tests are available for some inherited diseases and their complimentary use with routine clinical examination gives you a complete overview your dogs' eye health. (bulldogbreedcouncil.co.uk)
  • European Journal of Clinical Microbiology and Infectious Diseases. (unl.pt)
  • Congenital structural abnormalities of the mouth and jaws, including the dentition. (bioportfolio.com)
  • Much of the language used for describing congenital conditions predates genomic mapping, and structural conditions are often considered separately from other congenital conditions. (archive.is)
  • Still, congenital conditions are often classified in a structural basis, organized when possible by primary organ system affected. (archive.is)
  • Of 256 publications identified, 20 met inclusion criteria and comprised neonatal outcome data for 222 newborns whose mothers were suspected or confirmed to be SARS-CoV-2 positive perinatally (17 studies) or of newborns referred to hospital with infection/pneumonia (3 studies). (scielosp.org)
  • Patients can present with nonspecific complaints such as weakness, fatigue, changes in mental status, and arthralgia, so hereditary hemochromatosis can be missed or misdiagnosed if iron study testing is not performed. (otterbein.edu)
  • Background The hereditary predisposition to diabetes is only partially explained by genes identified so far. (bmj.com)
  • My laboratory's focus is hereditary cancer predisposition. (yalecancercenter.org)
  • Hereditary kidney cancers: The pathologist's view in 2020]. (harvard.edu)
  • Less common features include an atrial septal defect, increased muscle tone or skeletal abnormalities. (wikipedia.org)
  • Cystic fibrosis (CF) is a progressive, multisystem disease whose etiology is a genetic mutation in the CF gene product, cystic fibrosis transmembrane conductance regulator (CFTR). (bepress.com)