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.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
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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Congenital diseases and abnormalities refer to medical conditions or abnormalities that are present at birth. These conditions can be caused by genetic factors, environmental influences during pregnancy, or a combination of both.

Hereditary diseases and abnormalities, on the other hand, are those that are passed down from parents to offspring through genes. These conditions may not necessarily be present at birth but may develop over time due to the expression of certain genetic traits.

Neonatal diseases and abnormalities refer to medical conditions or abnormalities that occur during the first 28 days of life. These conditions can range from relatively minor issues, such as jaundice, to more severe problems, such as heart defects or infections.

Examples of congenital, hereditary, and neonatal diseases and abnormalities include:

* Congenital heart defects
* Down syndrome (a chromosomal disorder)
* Cleft lip and palate
* Spina bifida (a neural tube defect)
* Hemophilia (a bleeding disorder caused by a genetic mutation)
* Sickle cell disease (a genetic blood disorder)
* Neonatal respiratory distress syndrome (a breathing disorder that affects premature infants)
* Neonatal sepsis (a serious bacterial infection that can occur in newborns).

A "newborn infant" refers to a baby in the first 28 days of life outside of the womb. This period is crucial for growth and development, but also poses unique challenges as the infant's immune system is not fully developed, making them more susceptible to various diseases.

"Newborn diseases" are health conditions that specifically affect newborn infants. These can be categorized into three main types:

1. Congenital disorders: These are conditions that are present at birth and may be inherited or caused by factors such as infection, exposure to harmful substances during pregnancy, or chromosomal abnormalities. Examples include Down syndrome, congenital heart defects, and spina bifida.

2. Infectious diseases: Newborn infants are particularly vulnerable to infections due to their immature immune systems. Common infectious diseases in newborns include sepsis (bloodstream infection), pneumonia, and meningitis. These can be acquired from the mother during pregnancy or childbirth, or from the environment after birth.

3. Developmental disorders: These are conditions that affect the normal growth and development of the newborn infant. Examples include cerebral palsy, intellectual disabilities, and vision or hearing impairments.

It is important to note that many newborn diseases can be prevented or treated with appropriate medical care, including prenatal care, proper hygiene practices, and timely vaccinations. Regular check-ups and monitoring of the newborn's health by a healthcare provider are essential for early detection and management of any potential health issues.

Streptococcus agalactiae, also known as Group B Streptococcus (GBS), is a type of bacteria that commonly colonizes the gastrointestinal and genitourinary tracts of humans. It is Gram-positive, facultatively anaerobic, and forms chains when viewed under the microscope.

While S. agalactiae can be carried asymptomatically by many adults, it can cause serious infections in newborns, pregnant women, elderly individuals, and people with weakened immune systems. In newborns, GBS can lead to sepsis, pneumonia, and meningitis, which can result in long-term health complications or even be fatal if left untreated.

Pregnant women are often screened for GBS colonization during the third trimester of pregnancy, and those who test positive may receive intrapartum antibiotics to reduce the risk of transmission to their newborns during delivery.

Streptococcal infections are a type of infection caused by group A Streptococcus bacteria (Streptococcus pyogenes). These bacteria can cause a variety of illnesses, ranging from mild skin infections to serious and potentially life-threatening conditions such as sepsis, pneumonia, and necrotizing fasciitis (flesh-eating disease).

Some common types of streptococcal infections include:

* Streptococcal pharyngitis (strep throat) - an infection of the throat and tonsils that can cause sore throat, fever, and swollen lymph nodes.
* Impetigo - a highly contagious skin infection that causes sores or blisters on the skin.
* Cellulitis - a bacterial infection of the deeper layers of the skin and underlying tissue that can cause redness, swelling, pain, and warmth in the affected area.
* Scarlet fever - a streptococcal infection that causes a bright red rash on the body, high fever, and sore throat.
* Necrotizing fasciitis - a rare but serious bacterial infection that can cause tissue death and destruction of the muscles and fascia (the tissue that covers the muscles).

Treatment for streptococcal infections typically involves antibiotics to kill the bacteria causing the infection. It is important to seek medical attention if you suspect a streptococcal infection, as prompt treatment can help prevent serious complications.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Serotyping is a laboratory technique used to classify microorganisms, such as bacteria and viruses, based on the specific antigens or proteins present on their surface. It involves treating the microorganism with different types of antibodies and observing which ones bind to its surface. Each distinct set of antigens corresponds to a specific serotype, allowing for precise identification and characterization of the microorganism. This technique is particularly useful in epidemiology, vaccine development, and infection control.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

... 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 ...
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 ( ...
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 ...
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 ...
... 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, ...
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 ...
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. ...
... 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 ...
... 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" with syptoms similar to seizures. Diseases Alphabetical list 0-9 A B C ...
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 ...
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 ...
... is a hereditary disease and can be treated by gene therapy. Visual loss in children or infants can occur ... According to the American Academy of Ophthalmology, neonates found with eye abnormalities should be seen by a pediatric ... is due to a decrease in preventable or avoidable causes of blindness with the improvement and focus on maternal and neonatal ... Leber congenital amaurosis (LCA) has been a major focus in the development of gene therapy for treatment of the disease, as it ...
"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 ...
... 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. (Use dmy dates from January ... and a more early onset of bone fragility with recurrent bone fractures starting during the neonatal stage of life. This ...
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 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 ...
... congenital erythropoietic Porphyria, hereditary coproporphyria Portal hypertension due to intrahepatic 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 ...
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 ...
Congenital disorders are responsible for 20% of infant deaths. The most common congential diseases are heart defects, Down ... 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 E (August 2005). "The neurodevelopmental consequences of prenatal alcohol exposure". Advances in Neonatal Care. ...
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 ...
... 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. ...
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 ...
Neonatal skin is extremely sensitive to this sucking action since the skin barrier has yet to mature. In fact, the dermis does ... No abnormalities were detected during the pregnancy and the mother was healthy. After one week, her lesion was spontaneously ... Morelli JG (2011), "Diseases of the Neonate", Nelson Textbook of Pediatrics, Elsevier, pp. 2218-2220.e1, doi:10.1016/b978-1- ... Nielsen-Scott A, Goodyear H (October 2019). "Congenital blistering". BMJ. 367: l5287. doi:10.1136/bmj.l5287. PMID 31575524. ...
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 ...
... 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 ...
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 that she and others were to attribute the multiple congenital deformities, including the features of ... "Familial bilateral renal agenesis and hereditary renal adysplasia". Z Kinderheilkd. 115 (2): 111-29. doi:10.1007/BF00440537. ...
Researchers interested in Congenital, Hereditary, and Neonatal Diseases and Abnormalities ... Endocrine System Diseases. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities. *Nutritional and Metabolic ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities. *. Yiqiang Cai, PhD, MD. Associate Research Scientist ( ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Congenital, Hereditary, and Neonatal Diseases and Abnormalities ... and Neonatal Diseases and Abnormalities" by people in this website by year, and whether "Congenital, Hereditary, and Neonatal ... "Congenital, Hereditary, and Neonatal Diseases and Abnormalities" is a descriptor in the National Library of Medicines ... Below are MeSH descriptors whose meaning is more general than "Congenital, Hereditary, and Neonatal Diseases and Abnormalities ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Congenital, Hereditary, and Neonatal Diseases and Abnormalities ... and Neonatal Diseases and Abnormalities" by people in this website by year, and whether "Congenital, Hereditary, and Neonatal ... "Congenital, Hereditary, and Neonatal Diseases and Abnormalities" is a descriptor in the National Library of Medicines ... Below are MeSH descriptors whose meaning is more general than "Congenital, Hereditary, and Neonatal Diseases and Abnormalities ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities. *Epilepsy. *Genetic Counseling. *Heredity. *Human Genetics ... 15Reference Centre for Rare Diseases « Intellectual disabilities of rare causes », Civil Hospices of Lyon, Lyon, France. ... 7Department of Clinical Genetics and Reference Center for Rare Diseases « Developmental disorders and syndromes », APHP ... 2Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities. 18288. genetic disease. 18231. inherited metabolic disorder. ... 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 ... congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; pancreatic agenesis and congenital heart ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities. *Disease Management. *Early Diagnosis. *Genetics, Medical ... 5 Taipei Institute of Pathology, Neonatal Screening Center, Taipei, Taiwan *. 6 Chinese Foundation of Health, Neonatal ... Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from ... Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Nervous System ... Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. ... These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with ... congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, ...
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 ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Eye Abnormalities ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... "Lysosomal Storage Diseases" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Lysosomal Storage Diseases" by people in this website by year ... Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles. ...
Congenital, hereditary and neonatal diseases and abnormalities. *Digestive system diseases. *Disorders of environmental origin ... Though Biodesign has particular research strengths in key topics such as infectious diseases, immunology, imaging and testing, ... CancerEnvironmentImaging and TestingImmunologyInfectious DiseasesNeuroscienceSecurityAll Topics ...
Some human inherited diseases or cancers may be the consequences of the interactions of damaged PTMs, rather than the result of ... The damaged PTMs could be the reason of the development of some human diseases. In this study, we elucidated the proteome wide ... relationship of eight damaged PTMs to human inherited diseases and cancers. ... For instance, inherited-disease-related phosphorylation, "congenital, hereditary, and neonatal diseases and abnormalities," is ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Medicine & Life Sciences 15% * International Normalized Ratio ... Von Willebrand disease - aspects of diagnosis, prophylaxis and outcome. Holm, E., 2018, Lund: Lund University: Faculty of ... Mild congenital bleeding disorders, especially VWD, should be specifically screened for in patients with mild/moderate symptoms ... Mild congenital bleeding disorders, especially VWD, should be specifically screened for in patients with mild/moderate symptoms ...
... 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 - ...
DISEASES. Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases ... CN congenital. CO complications. DG diagnostic imaging. DH diet therapy. DI diagnosis. DT drug therapy. EC economics. EH ... and a high incidence of neoplastic disease. ... Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary ... and a high incidence of neoplastic disease.. ... Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X- ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Musculoskeletal ...
Machado-Joseph Disease [C10.597.350.090.500.530.530]. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] ... French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis. Hum Mol Genet. ... "Machado-Joseph Disease" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... This graph shows the total number of publications written about "Machado-Joseph Disease" by people in this website by year, and ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Abnormalities, ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
AND NEONATAL DISEASES AND ABNORMALITIES. NEONATAL DISEASES AND ABNORMALITIES. CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ... C15 - HEMIC AND LYMPHATIC DISEASES. FANCONIS ANEMIA. FANCONI ANEMIA. C16 - CONGENITAL, HEREDITARY, ... C08 - RESPIRATORY TRACT DISEASES. KARTAGENERS SYNDROME. KARTAGENER SYNDROME. C12 - UROLOGIC AND MALE GENITAL DISEASES. ... C13 - FEMALE GENITAL DISEASES AND PREGNANCY COMPLICATIONS. TURNERS SYNDROME. TURNER SYNDROME. ...
  • Mild congenital bleeding disorders, especially VWD, should be specifically screened for in patients with mild/moderate symptoms. (lu.se)
  • Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. (nih.gov)
  • Knowledge of human fetal blood development and how it differs from adult blood is highly relevant to our understanding of congenital blood and immune disorders and childhood leukemia, of which the latter can originate in utero. (lu.se)
  • Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. (ctsicn.org)
  • Isolated CAVB can also occur due to myocarditis and rare hereditary conditions, such as storage disorders (eg, Hurler syndrome, Hunter syndrome). (medscape.com)
  • CAVB can occur in a structurally normal heart (isolated CAVB) or in association with congenital heart disease (complex CAVB with congenital heart defects). (medscape.com)
  • Isolated CAVB occurs in the absence of other congenital heart defects. (medscape.com)
  • CAVB can also be seen with certain congenital heart defects, most often complex defects, such as heterotaxy with accompanying AV canal defects and L-transposition of the great arteries. (medscape.com)
  • Complex CAVB is associated with congenital heart defects that have structural abnormality of the conduction system. (medscape.com)
  • These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. (harvard.edu)
  • Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. (beds.ac.uk)
  • and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations. (wakehealth.edu)
  • Spider Lamb Syndrome (SLS) is a semi-lethal congenital disorder, causing severe skeletal abnormalities in sheep. (illinois.edu)
  • CAVB occurs in as many as 5% of children born to mothers with anti-Ro antibody, which can be seen with subclinical or clinical maternal lupus erythematosus, maternal Sjögren syndrome, or other maternal autoimmune diseases. (medscape.com)
  • [ 6 ] After birth, the children may present with varying degrees of heart block, including CAVB, cardiomyopathy, and other manifestations of neonatal lupus syndrome. (medscape.com)
  • 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)
  • Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. (nih.gov)
  • An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. (bvsalud.org)
  • Idiopathic carpal tarsal osteolysis (ICTO) is a rare congenital disorder that results in the destruction and resorption of bone, leading to severe functional deficits and cosmetic deformities. (utmb.edu)
  • Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. (musc.edu)
  • Third-degree or complete congenital atrioventricular block (CAVB) is seen either in the fetal life or any time after birth with complete atrioventricular (AV) dissociation and bradycardia and is called congenital heart block to differentiate it from acquired third-degree heart block. (medscape.com)
  • It can occur in the fetal life due to maternal disease or due to a congenital heart defect in the fetus and can manifest at any given time before or after birth. (medscape.com)
  • In a Japanese retrospective study comprising 52,124 clinical records of pregnancies from a single center, there were 183 anti-Ro/SSA antibody-positive women, in whom titers of anti-Ro/SSA, anti-Ro52, and anti-Ro60 antibodies were independent risk factors for fetal congenital heart block, and the use of corticosteroids before 18 weeks' gestation was an independent protective factor. (medscape.com)
  • Congenital complete heart block is an increasingly recognized cause of fetal loss. (medscape.com)
  • However, because significant fetal loss is thought to result from this disease, the true incidence of the disease (per conception) may be significantly higher. (medscape.com)
  • Structural congenital heart block is also rare, but with a higher proportion of fetal loss. (medscape.com)
  • Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. (rush.edu)
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
  • Abnormalities, Drug-Induced" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (wakehealth.edu)
  • Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • A group of connective tissue diseases in which skin hangs in loose pendulous folds. (kpresearcherprofiles.org)
  • In the early 1970s, the association with maternal connective-tissue disease was recognized. (medscape.com)
  • Owing to the high incidence of anti-Ro/SSA and anti-p200 antibodies in female patients with connective tissue diseases, screening for congenital heart block-associated autoantibodies during pregnancy may be a strong consideration. (medscape.com)
  • In some cases, since the early 1970s, it has been associated with the presence of maternal connective-tissue disease. (medscape.com)
  • Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al. (beds.ac.uk)
  • Congenital atrioventricular block (CAVB) with structural heart disease is considered to be caused by failure of the AV conduction system to develop during heart development. (medscape.com)
  • This may be a result of increased distance between the AV node and the ventricular conduction tissues, as when associated with structural congenital heart disease or damage related to the passage of maternal autoantibodies. (medscape.com)
  • Rarely, it can occur as a result of myocarditis, infiltrative disease, or other cardiomyopathy. (medscape.com)
  • Hereditary diseases such as Hurler cardiomyopathy and Hunter cardiomyopathy can be associated with CAVB. (medscape.com)
  • An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. (nih.gov)
  • [ 4 ] This possible role of bilirubin in early protection against oxidative injury, coupled with identification of multiple neonatal mechanisms to preserve and potentiate bilirubin production, has led to speculation about an as-yet-unrecognized beneficial role for bilirubin in the human neonate. (medscape.com)
  • The majority of the congenital CAVB cases are autoimmune AV blocks. (medscape.com)
  • A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. (wakehealth.edu)
  • Mediterranean Journal of Hematology and Infectious Diseases , 8 (1), e2016014. (lu.se)
  • Either at genomic or at proteomic level, mutations have significant impact on normal gene or protein function, and human diseases could be associated with mutations like nonsynonymous single-nucleotide variations (nsSNVs) on amino acids. (hindawi.com)
  • Although data of both gene mutations and PTMs are increasing fast, the proteome-wide analysis on the relationship between damaged PTMs and human diseases is not well studied. (hindawi.com)
  • The mothers may or may not have a diagnosis of an autoimmune disease made at that time. (medscape.com)
  • This graph shows the total number of publications written about "Lysosomal Storage Diseases" by people in this website by year, and whether "Lysosomal Storage Diseases" was a major or minor topic of these publications. (umassmed.edu)
  • Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles. (umassmed.edu)
  • Gene therapy in lysosomal diseases]. (umassmed.edu)
  • Below are the most recent publications written about "Lysosomal Storage Diseases, Nervous System" by people in Profiles. (childrensmercy.org)
  • One hundred ninety-six salivary metabolites were mapped into 49 metabolic pathways and connected with human metabolic diseases, central nervous system diseases, and neoplasms. (nih.gov)
  • Male urogenital diseases encompass a variety of conditions affecting the male reproductive and urinary systems. (genet.ca)
  • Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. (bvsalud.org)
  • This image depicted a close intraoral view of a Nigerian patient's opened mouth, thereby, exposing the patient's dentition, and a defect in this region determined to be a congenital abnormality known as a cleft palate, enabling one to see into the patient's nasal cavity above. (cdc.gov)
  • A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia. (umassmed.edu)
  • For example, Snyder Robinson Syndrome is a new disease SCR that is mapped to the MeSH descriptor Mental Retardation, X-Linked. (bvsalud.org)
  • A form of long QT syndrome that is without congenital deafness. (ctsicn.org)
  • 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)
  • 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. (musc.edu)
  • Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. (nih.gov)
  • A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. (uams.edu)
  • Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. (uams.edu)
  • A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. (nih.gov)
  • Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. (nih.gov)
  • 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)
  • Less common features include an atrial septal defect, increased muscle tone or skeletal abnormalities. (wikipedia.org)
  • and Kay, Christine, "Novel Adeno-Associated Virus-Based Genetic Therapy for Leber Hereditary Optic Neuropathy: A Case-Report" (2021). (hcahealthcare.com)
  • By measuring entire classes of chemicals in archived biospecimens, exposome-wide association studies (EWAS) are being conducted to investigate associations between a myriad of exposures received during life and chronic diseases. (nih.gov)
  • Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. (wakehealth.edu)
  • Plasma fractionation is the large‐scale production process used to prepare an important class of protein products that are the only potential therapeutic options to treat, manage or prevent life‐threatening conditions resulting from immunological disorders, congenital plasma protein deficiencies, infections and trauma. (tmu.edu.tw)
  • Interstage Home Monitoring for Infants With Single Ventricle Heart Disease: Education and Management: A Scientific Statement From the American Heart Association. (childrensmercy.org)
  • Parental mobile health adherence to symptom home monitoring for infants with congenital heart disease during the single ventricle interstage period: A concept analysis. (childrensmercy.org)
  • This is a potentially lethal form of heart disease in newborns and infants. (uchicago.edu)
  • Having these terms available for indexing purposes will enhance a more precise retrieval of the rare disease articles and contribute to their identification. (bvsalud.org)
  • Första besöket till kliniken gjordes mellan 2010 och 2019, uppföljningsbesök har ännu inte påbörjats men förhoppningen är att en sådan runda kan påbörjas under 2022. (gu.se)
  • Rare, autosomal dominant disease with variable penetrance and several known clinical types. (musc.edu)
  • 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. (uchicago.edu)
  • This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. (uams.edu)
  • 10 The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. (nih.gov)
  • Because rare diseases are defined as having a prevalence of fewer than 200,000 affected individuals in the United States they traditionally received less attention and are sometimes called orphan diseases. (bvsalud.org)
  • Investigating the genetics and genomics of endocrine system diseases can provide valuable insights into the genetic factors that influence these conditions. (genet.ca)
  • 8 Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. (nih.gov)
  • There is increasing evidence that environmental, rather than genetic, factors are the major causes of most chronic diseases. (nih.gov)
  • Because genetic factors typically account for only about 18% of chronic disease risks, it is reasonable to infer that nongenetic factors (i.e., exposures) are major causes of chronic diseases ( Rappaport 2016 ). (nih.gov)
  • In chronic kidney disease (CKD), elevations of FGF23 levels can be 1000-fold above the upper physiological limit. (elsevierpure.com)
  • Death from liver disease usually occurs before age 2. (sdsu.edu)