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.

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)

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Death by judiciary order.(4/7)

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

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

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One man's burden.(7/7)

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1. Congenital heart disease: A condition in which the heart is abnormally developed or has defects present at birth.
2. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21, which can cause intellectual and physical disabilities.
3. Cystic fibrosis: A genetic disorder that affects the respiratory and digestive systems, causing thick mucus buildup and recurring infections.
4. Spina bifida: A condition in which the spine fails to develop properly, leading to defects in the brain and spinal cord.
5. Neonatal jaundice: A condition in which a newborn has high levels of bilirubin in their blood, causing yellowing of the skin and eyes.
6. Premature birth: A birth that occurs before 37 weeks of gestation, which can lead to various health complications for the baby.
7. Low birth weight: A condition in which a newborn weighs less than 5 pounds, 8 ounces, which can increase the risk of health problems.
8. Neonatal respiratory distress syndrome (NRDS): A condition in which a newborn has difficulty breathing, often due to premature birth or underdeveloped lungs.
9. Neonatal sepsis: A condition in which a newborn develops an infection, often caused by bacteria, viruses, or other microorganisms.
10. Neonatal thyroiditis: An inflammation of the thyroid gland that occurs in newborns, often causing hypothyroidism (an underactive thyroid gland).

These are just a few examples of the many potential health complications that can occur in newborns. It's important to be aware of these risks and seek medical attention right away if you notice any signs of illness or distress in your baby.

1. Respiratory distress syndrome (RDS): This is a breathing disorder that occurs when the baby's lungs are not fully developed, causing difficulty in breathing. RDS can be treated with oxygen therapy and other medical interventions.
2. Jaundice: Jaundice is a yellowish tint to the skin and eyes caused by high levels of bilirubin in the blood. It is a common condition in newborns, but if left untreated, it can lead to brain damage. Treatment may involve phototherapy or blood exchange transfusions.
3. Neonatal jaundice: This is a milder form of jaundice that occurs in the first few days of life. It usually resolves on its own within a week, but if it persists, treatment may be necessary.
4. Premature birth: Premature babies are at risk for various health issues, including respiratory distress syndrome, intraventricular hemorrhage (bleeding in the brain), and retinopathy (eye problems).
5. Congenital heart disease: This is a heart defect that occurs during fetal development. It can range from mild to severe and may require surgical intervention.
6. Infections: Newborns are susceptible to bacterial and viral infections, such as group B strep, pneumonia, and urinary tract infections. These can be treated with antibiotics if caught early.
7. Hypoglycemia (low blood sugar): This is a condition that occurs when the baby's blood sugar levels drop too low. It can cause seizures, lethargy, and other symptoms. Treatment involves feeding or providing glucose supplements.
8. Hyperbilirubinemia (high bilirubin levels): Bilirubin is a yellow pigment produced during the breakdown of red blood cells. High levels can cause jaundice, which can lead to kernicterus, a condition that can cause brain damage and hearing loss.
9. Intracranial hemorrhage (bleeding in the brain): This is a serious condition that occurs when there is bleeding in the baby's brain. It can be caused by various conditions, including premature birth, abruption, and vasculitis.
10. Meconium aspiration: This occurs when the baby inhales a mixture of meconium (a substance produced by the intestines) and amniotic fluid during delivery. It can cause respiratory problems and other complications.

It's important to note that while these conditions can be serious, many babies born at 37 weeks gestation do not experience any complications. Proper prenatal care and a healthy pregnancy can help reduce the risk of these conditions.

Some common types of streptococcal infections include:

1. Strep throat (pharyngitis): an infection of the throat and tonsils that can cause fever, sore throat, and swollen lymph nodes.
2. Sinusitis: an infection of the sinuses (air-filled cavities in the skull) that can cause headache, facial pain, and nasal congestion.
3. Pneumonia: an infection of the lungs that can cause cough, fever, chills, and shortness of breath.
4. Cellulitis: an infection of the skin and underlying tissue that can cause redness, swelling, and warmth over the affected area.
5. Endocarditis: an infection of the heart valves, which can cause fever, fatigue, and swelling in the legs and abdomen.
6. Meningitis: an infection of the membranes covering the brain and spinal cord that can cause fever, headache, stiff neck, and confusion.
7. Septicemia (blood poisoning): an infection of the bloodstream that can cause fever, chills, rapid heart rate, and low blood pressure.

Streptococcal infections are usually treated with antibiotics, which can help clear the infection and prevent complications. In some cases, hospitalization may be necessary to monitor and treat the infection.

Prevention measures for streptococcal infections include:

1. Good hygiene practices, such as washing hands frequently, especially after contact with someone who is sick.
2. Avoiding close contact with people who have streptococcal infections.
3. Keeping wounds and cuts clean and covered to prevent bacterial entry.
4. Practicing safe sex to prevent the spread of streptococcal infections through sexual contact.
5. Getting vaccinated against streptococcus pneumoniae, which can help prevent pneumonia and other infections caused by this bacterium.

It is important to seek medical attention if you suspect you or someone else may have a streptococcal infection, as early diagnosis and treatment can help prevent complications and improve outcomes.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

... 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 - ...
"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.{{cite journal}}: CS1 ... neurological abnormalities such as anencephaly, which impair the swallowing reflex. Anencephaly is failure of closure of the ...
The National Organization of Rare Disorders lists macroglossia as a rare disease (fewer 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 ...
Charcot-Marie-Tooth disease variant 1E (CMT1E) is noted for demyelinating in addition to deafness. Autoimmune disease is ... It occurs with abnormalities in other parts of the body. Examples include Pierre Robin syndrome, Treacher Collins syndrome, ... The congenital defect microtia, deformed or unformed outer ear, can be associated with partial or complete conductive deafness ... From a genetic standpoint, this accounts for the other 70% of cases and represents the majority of hereditary hearing loss. ...
Type 2, congenital sensory neuropathy (also historically known as Morvan's disease), is characterized by onset of symptoms in ... Hereditary sensory neuropathy type 1 is a condition characterized by nerve abnormalities in the legs and feet (peripheral ... Hereditary sensory and autonomic neuropathy type 6 (HSAN6) is a severe autosomal recessive disorder characterized by neonatal ... Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV ( ...
... congenital type 1 Dyserythropoietic anemia, congenital type 2 Dyserythropoietic anemia, congenital type 3 Dysexecutive syndrome ... 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 ...
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 UTP4 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 ...
2006). "Novel Mutations in Three Families Confirm a Major Role of COL4A1 in Hereditary Porencephaly". Journal of Medical ... "Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs". American Journal of ... "Neonatal Porencephaly in Very Low Birth Weight Infants: Ultrasound Timing of Asphyxial Injury and Neurodevelopmental Outcome at ... Congenital disorders, Congenital disorders of nervous system). ... and cerebral small vessel diseases involving both stroke and ...
... heart disease, kidney abnormality, skeletal anomalies, ocular abnormalities. The prevalence of children affected is estimated ... 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 metabolic disease is also referred to as an inborn error of metabolism. Most of these are single-gene defects, ...
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 ...
... 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 ...
Hereditary Ocular Diseases". Sengers RCA, ter Haar, BGA, Trijbels JMF, Willems JL, Daniels O, Stadhouders AM (1975) Congenital ... There are two forms of the disease: 1. The lethal neonatal form. Hypertrophic cardiomyopathy is diagnosed at birth in half. ... testing for mitochondrial abnormalities, ANT deficiency, and decreases of respiratory chain complexes I and IV can also be done ... Hereditary Ocular Diseases". "Sengers Syndrome , Hereditary Ocular Diseases". "Sengers Syndrome , Hereditary Ocular Diseases ...
This disease is further divided into three subgroups, namely neonatal arterial ischemic stroke, neonatal cerebral sinovenous ... 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 ...
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 ...
... it is a similar type of genetic bone disease characterized by congenital bone fragility. "Entry - #126550 - CALVARIAL DOUGHNUT ... found abnormalities of the skull through MRIs and X-rays on a 16 year old teenager with a sporadic case of the condition. ... A benign, hereditary dysplasia". Radiology. 119 (2): 385-387. doi:10.1148/119.2.385. PMID 1265267. (Orphaned articles from ... and a more early onset of bone fragility with recurrent bone fractures starting during the neonatal stage of life. This ...
"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 ...
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, ...
This disease, acquired or hereditary, is marked by very severe microangiopathic hemolytic anemia, with laboratory findings ... "Congenital dyserythropoietic anemia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-14. Orf K, Cunnington ... Hatzenbuehler L, Zaidi AK, Sundar S, Sultana S, Abbasi F, Rizvi A, Darmstadt GL (September 2010). "Validity of neonatal ... Increased levels of conjugated bilirubin will only be observed with coexisting hepatobiliary abnormalities. Only when the ...
Primary familial polycythemia, also known as primary familial and congenital polycythemia (PFCP), exists as a benign hereditary ... Von Hippel-Lindau disease, and endocrine abnormalities including pheochromocytoma and adrenal adenoma with Cushing's syndrome. ... Sarkar S, Rosenkrantz TS (August 2008). "Neonatal polycythemia and hyperviscosity". Seminars in Fetal & Neonatal Medicine. 13 ( ... Hypoxic disease-associated - for example, in cyanotic heart disease where blood oxygen levels are reduced significantly; in ...
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. ...
Evidence for congenital deformities found in the fossil record is studied by paleopathologists, specialists in ancient disease ... Understanding how a teratogen causes its effect is not only important in preventing congenital abnormalities but also has the ... 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. ...
There are multiple different genetic disorders associated with congenital cataracts: Norrie disease (X-linked recessive ... Childhood cataracts are hereditary in 8.3% to 25% of cases. Of which, 75% of cases are inherited in an autosomal dominant ... In order to decrease presentations of avoidable blindness in childhood, it is important to focus on maternal and neonatal ... The diagnosis of childhood cataracts are associated with other eye abnormalities in 27% of cases and associated with systemic ...
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 ...
Although no cure for this disease has been found, improvements in the course of the disease have been significantly seen after ... Neonatal cholestasis lasted no more than one year in some patients or lasted until the age of 6/7 years in some cases. In ... Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs ... This can lead to skeletal abnormalities and a higher susceptibility to bleeding. In early childhood and adolescence, lymphedema ...
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 ... Cerebellar-Hypoplasia at NINDS Cerebellar hypoplasia at NIH's Office of Rare Diseases (Articles with short description, Short ... Aldinger, Kimberly A.; Doherty, Dan (October 2016). "The genetics of cerebellar malformations". Seminars in Fetal & Neonatal ...
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. ...
Moreover, there is an increased risk for congenital heart disease depending on the inbreeding coefficient (See coefficient of ... leading to high risk of inheriting genetic diseases. As of 2014, around 5% of the Qatari population suffered from hereditary ... Studies have confirmed an increase in several genetic disorders due to inbreeding such as blindness, hearing loss, neonatal ... like the vertebral column of wolves on Isle Royale or having cranial abnormalities, such as in Northern elephant seals, where ...
The US Centers for Disease Control estimates 3 million women in the United States are at risk of having a baby with FASD, and ... While functional abnormalities are the behavioral and cognitive expressions of the FASD disability, CNS damage can be assessed ... The IOM presents ARBD as a list of congenital anomalies that are linked to maternal alcohol use but have no key features of ... Yaffe SJ (2011). Drugs in pregnancy and lactation : a reference guide to fetal and neonatal risk (9 ed.). Philadelphia: Wolters ...
NF1 Neuromuscular disease, congenital, with uniform type 1 fiber; 117000; RYR1 Neuronopathy, distal hereditary motor, type IIC ... permanent neonatal; 606176; GCK Diabetes mellitus, permanent neonatal; 606176; INS Diabetes mellitus, permanent neonatal, with ... congenital, with or without ocular abnormalities; 609049; LAMB2 Nephrotic syndrome, type 1; 256300; NPHS1 Nephrotic syndrome, ... RNF212 Refsum disease; 266500; PEX7 Refsum disease; 266500; PHYH Refsum disease, infantile form; 266510; PEX26 Refsum disease, ...
Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, ... Intrauterine and neonatal insults (many of which are infectious) increase the risk. Rh blood type incompatibility can cause the ... Specht J, King G, Brown E, Foris C (2002). "The importance of leisure in the lives of persons with congenital physical ... These gait patterns are among the most common gait abnormalities in children with cerebral palsy. However, orthopaedic ...
"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 ...
... and certain congenital malformations (congenital pulmonary airway malformation and congenital lobar emphysema). 11.5% of people ... In some lung diseases, especially emphysema, it is possible for abnormal lung areas such as bullae (large air-filled sacs) to ... The incidence of symptomatic neonatal is estimated to be around 1-3 per 1000 live births. Prematurity, low birth weight and ... The hereditary conditions - Marfan syndrome, homocystinuria, Ehlers-Danlos syndromes, alpha 1-antitrypsin deficiency (which ...
Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, ... Specht, J.; King, G.; Brown, E.; Foris, C. (1 July 2002). "The Importance of Leisure in the Lives of Persons With Congenital ... Gait analysis is often used to describe gait abnormalities in children. Gait training has been shown to improve walking speed ... "Cell therapy for neonatal hypoxia-ischemia and cerebral palsy". Annals of Neurology. 71 (5): 589-600. doi:10.1002/ana.22670. ...
Hashemi, SM; Hund, TJ; Mohler, PJ (August 2009). "Cardiac ankyrins in health and disease". Journal of Molecular and Cellular ... Tomaselli, GF (30 January 2007). "A failure to adapt: ankyrins in congenital and acquired arrhythmias". Circulation. 115 (4): ... These mice also display several electrophysiological abnormalities, including bradycardia, variable heart rate, long QT ... and a reduction of ankyrin-B in neonatal cardiomyocytes reduces the half-life of the inositol trisphosphate receptor by 3-fold ...
A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment. Health ... Archives of Disease in Childhood, 78(3), 249-252. Vohr, B. R., Widen, J. E., Cone-Wesson, B., Sininger, Y. S., Gorga, M. P., ... genetic or hereditary hearing loss) and requiring amplification. List of Developing Countries as of January 1, 2013: *"Occupied ... other than through gross visual examination for disorders such as pinna abnormalities, discharge, or impacted wax (McPherson & ...
Alexander disease (E75.5) Cerebrotendineous xanthomatosis Hereditary CNS demyelinating disease (E75.2) Krabbe disease (E75.2) ... Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause. When damage occurs to white ... while those with Krabbe disease or metachromatic leukodystrophy have abnormalities in their conduction velocities. Next ... reassessment of a neonatal form". Child's Nervous System. 28 (12): 2029-2031. doi:10.1007/s00381-012-1868-8. PMID 22890470. ...
Charcot-Marie-Tooth disease MeSH C16.131.666.300.780 - Refsum disease MeSH C16.131.666.300.820 - spastic paraplegia, hereditary ... neonatal MeSH C16.614.451.500.250 - jaundice, chronic idiopathic MeSH C16.614.492.400 - ichthyosiform erythroderma, congenital ... maxillofacial abnormalities MeSH C16.131.850.500.460 - jaw abnormalities MeSH C16.131.850.500.460.185 - cleft palate MeSH ... Charcot-Marie-Tooth disease MeSH C16.320.400.400.780 - Refsum disease MeSH C16.320.400.400.820 - spastic paraplegia, hereditary ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [‎5]‎. Decision Making, Organizational [‎6]‎. ...
Developmental Disease. 18380. Congenital, Hereditary, and Neonatal Diseases and Abnormalities. 18236. genetic disease. 18173. ... Diseases Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes ... Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory ... RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically ...
Glycogen Storage Disease Type IIb [C14.280.238.458]. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] ... "Glycogen Storage Disease Type IIb" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ... Danon disease: case report and detection of new mutation. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S115-22. ... This graph shows the total number of publications written about "Glycogen Storage Disease Type IIb" by people in Harvard ...
These results expand the genotypic spectrum of DDX58-associated disease, provide the first detailed description of ocular and ... Keywords: and neonatal diseases and abnormalities; autoimmune diseases; congenital; dermatology; eye diseases; gain of function ... mutation; hereditary. © Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by ... 14 Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, ...
C16 - Congenital, Hereditary, and Neonatal Diseases and Abnormalities. Abnormalities. Congenital Abnormalities. C23 - ... C09 - Otorhinolaryngologic Diseases. Menieres Disease. Meniere Disease. C10 - Nervous System Diseases. Cerebrovascular ... C12 - Male Urogenital Diseases. Impotence. Erectile Dysfunction. C14 - Cardiovascular Diseases. Angioneurotic Edema. Angioedema ... C06 - Digestive System Diseases. Hepatic Vein Thrombosis. Budd-Chiari Syndrome. ...
congenital, hereditary, and neonatal diseases and abnormalities. JD006. *Analyze & summarize reports (AnalyzeSimilarityResults. ...
Categories: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Image Types: Photo, Illustrations, Video, Color, ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ...
Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. MedDRA Classification. ... Pulmonary disease or cardiac disease of sufficient severity to limit participation in the study and/or completion of study ... E.1 Medical condition or disease under investigation. E.1.1. Medical condition(s) being investigated Cerebral X-linked ... halt disease progression of cALD if administered prior to hematopoietic. stem-cell transplantation (HSCT), as determined by ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Skin Abnormalities ...
Circulatory and Respiratory Physiology , Congenital, Hereditary, and Neonatal Diseases and Abnormalities. Language. English ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] * Congenital Abnormalities [C16.131] * Fetal Diseases [ ... CONGENITAL HEREDITARY NEONATAL DIS ABNORM. Entry Term(s). Congenital Disorders Disorders, Congenital Neonatal Diseases and ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities Preferred Concept UI. M0014570. Scope Note. Diseases existing ... Neonatal Diseases and Abnormalities Narrower Concept UI. M0374592. Terms. Neonatal Diseases and Abnormalities Preferred Term ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... it is then referred to as Dercums Disease Type III ... Dercums Disease Type III*Dercums Disease Type III. *Adiposis ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 25% * Population Biological Variation 24% ...
Anemia, Hypoplastic, Congenital [C15.378.190.196.080]. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] ... "Anemia, Hypoplastic, Congenital" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Anemia, Hypoplastic, Congenital" by people in this website by ... Below are the most recent publications written about "Anemia, Hypoplastic, Congenital" by people in Profiles. ...
DISEASES. Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases ... A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The ... A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The ...
DISEASES. Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases ... DISEASES. Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases ... deficiencia de carboxilasa múltiple de forma neonatal Scope note:. Forma neonatal del DEFICIENCIA DE CARBOXILASA MÚLTIPLE que ... Multiple Carboxylase Deficiency, Neonatal Form. Tree number(s):. C16.320.565.100.620.380. C16.320.565.202.720.380. C18.452. ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] * Congenital Abnormalities [C16.131] * Fetal Diseases [ ... CONGENITAL HEREDITARY NEONATAL DIS ABNORM. Entry Term(s). Congenital Disorders Disorders, Congenital Neonatal Diseases and ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities Preferred Concept UI. M0014570. Scope Note. Diseases existing ... Neonatal Diseases and Abnormalities Narrower Concept UI. M0374592. Terms. Neonatal Diseases and Abnormalities Preferred Term ...
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 0.310 ... disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 4 0.300 ... disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 ... disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 234 ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Inborn genetic diseases*Inborn errors of metabolism*Brain ... CROGVCytochrome-c oxidase deficiency disease. *CROGVLeigh syndrome*CROGVCongenital lactic acidosis, Saguenay-Lac-Saint-Jean ... CROGVMitochondrial disease*CROGVComplex V deficiency*CROGVMitochondrial complex V (ATP synthase) deficiency nuclear type 2 ... CROGVHereditary hearing loss and deafness*CROGVAlport syndrome*CROGVAutosomal dominant Alport syndrome ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities , Nutritional and Metabolic Diseases. Publisher or Conference. ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male ... Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref. ...
The adolescent assumes this role in preparation for transition to an adult congenital heart program. We studied the knowledge ... mitral valve disease), tetralogy of Fallot, TGA/TAPVR or palliated single ventricles, but similar in ability to at least ... Most congenital heart disease [CHD] is diagnosed and treated in early childhood with parents responsible for decision-making. ... Cardiology Commons, Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Pediatrics Commons ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Nervous System ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]. *Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] ... Lysosomal Storage Diseases, Nervous System*Lysosomal Storage Diseases, Nervous System. *Lysosomal Enzyme Disorders, Nervous ... "Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicines controlled vocabulary ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... Cardiovascular disease risk factors: prevalence and management in adult hemophilia patients. Blood Coagul Fibrinolysis. 2011 ... Impact of lifestyle modification on symptomatic coronary artery disease in a haemophilia patient with inhibitors. Haemophilia. ... inflammation and soft tissue abnormalities in adult patients with painful haemophilic arthropathy. Haemophilia. 2015 Jul; 21(4 ...
  • Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis. (nih.gov)
  • Hereditary immune deficiencies: relationship between clinical symptoms and abnormalities of the immune system]. (nih.gov)
  • A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. (bvsalud.org)
  • The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. (bvsalud.org)
  • Cytochrome oxidase deficiency in Alzheimer's disease. (ucdenver.edu)
  • C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98699 5 Alpha Steroid Reductase 2 Deficiency 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. (nih.gov)
  • C85866 Autosomal Recessive Hereditary Disorder C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology C84524 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5,10-Methylenetetrahydrofolate Reductase Deficiency A rare disorder associated with mental retardation, spasticity, and early death. (nih.gov)
  • C85866 Autosomal Recessive Hereditary Disorder C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology C34518 Cri du Chat Syndrome 5p Partial Monosomy Syndrome A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. (nih.gov)
  • C79546 Chylothorax C99147 Neonatal Research Network Terminology C34347 Acquired Coagulation Factor Deficiency Acquired Coagulation Factor Deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. (nih.gov)
  • ABSTRACT The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. (who.int)
  • The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. (who.int)
  • CASE REPORT A Japanese male term infant developed severe hemolytic anemia and metabolic acidosis in the early neonatal period. (bvsalud.org)
  • MeSH) C89330 Developmental Disorder C84978 Congenital Skeletal Dysplasia C99147 Neonatal Research Network Terminology C98802 Acquired Cataract Acquired Cataract Cataract that results from the aging process, an injury, or as a manifestation of a systemic disorder. (nih.gov)
  • Skin Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • The clinical picture varies, depending upon the combination of abnormalities. (nih.gov)
  • Clinical manifestations include CONGENITAL HEART DEFECTS (e.g. (sdsu.edu)
  • Inborn Error of Metabolism C99147 Neonatal Research Network Terminology C84585 Barth Syndrome 3-Methylglutaconic Aciduria Type 2 A rare X-linked syndrome caused by mutations in TAZ1 gene. (nih.gov)
  • 9. Pulmonary consequences of congenital and acquired primary immunodeficiency states. (nih.gov)
  • Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. (nih.gov)
  • Congenital structural abnormalities of the skin. (harvard.edu)
  • Semin Fetal Neonatal Med 2017 Dec;22(6):360-366. (beds.ac.uk)
  • Environmental Exposures and Congenital Heart Disease. (beds.ac.uk)
  • Knowledge Base of Adolescents with Congenital Heart Disease" by Mark Gelatt, Julie Martin et al. (childrensmercy.org)
  • Most congenital heart disease [CHD] is diagnosed and treated in early childhood with parents responsible for decision-making. (childrensmercy.org)
  • Impact of lifestyle modification on symptomatic coronary artery disease in a haemophilia patient with inhibitors. (musc.edu)
  • The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles). (rush.edu)
  • Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. (harvard.edu)
  • December 2020 from the private hospital's Ethics as well as severe neonatal jaundice. (who.int)
  • 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. (uams.edu)
  • C2950 Chromosome Abnormality C99147 Neonatal Research Network Terminology C98683 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconic Aciduria Type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. (nih.gov)
  • C101304 Hemolytic Disease of the Newborn C99147 Neonatal Research Network Terminology C34345 Achondroplasia Achondroplasia An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. (nih.gov)
  • C26891 Blood Vessel Thrombosis C99147 Neonatal Research Network Terminology C106273 ABO Hemolytic Disease of the Newborn ABO Isoimmunization Hemolytic Disease due to ABO Isoimmunization A disorder of the newborn that occurs when cells that are coated with IgG alloantibodies from the mother attack ABO blood type antigens inherited from the father. (nih.gov)
  • The adolescent assumes this role in preparation for transition to an adult congenital heart program. (childrensmercy.org)
  • Point-of-care musculoskeletal ultrasound is critical for the diagnosis of hemarthroses, inflammation and soft tissue abnormalities in adult patients with painful haemophilic arthropathy. (musc.edu)
  • Cardiovascular disease risk factors: prevalence and management in adult hemophilia patients. (musc.edu)
  • Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicity. (ucdenver.edu)
  • Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. (nih.gov)
  • Solitary congenital lip pit in an infant. (harvard.edu)
  • Medicine and Dentistry, y University sity and patterns of hearing loss at a private hospital that serves the largest number of patients with ear, nose and throat diseases in Tanzania's largest city. (who.int)
  • 2 Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and Biomedical Research Centre Network for Oncology (CIBERONC), L'Hospitalet de Llobregat, Spain. (nih.gov)
  • However, an attenuation of the acquired immune response was observed 6 months after one course of cancer vaccination as the disease progressed. (bvsalud.org)
  • This graph shows the total number of publications written about "Skin Abnormalities" by people in Harvard Catalyst Profiles by year, and whether "Skin Abnormalities" was a major or minor topic of these publication. (harvard.edu)
  • Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. (beds.ac.uk)
  • A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. (ucdenver.edu)