Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Infant, Newborn, Diseases
Serotyping
Pregnancy
Unfinished feticide: the ethical problems. (1/7)
Dr. Jansen's paper raises three main issues. The one with which he himself is most concerned is the question of which methods of abortion are ethically right, and whether methods which risk the birth of a damaged baby are wrong. But there are two others: first, how the (originally unintended) birth of a live but damaged child alters the moral situation, and secondly, whether the overcoming of sterility by inducing a multiple pregnancy in which some of the fetuses have to be killed in order for any of them to survive is at all morally acceptable. (+info)Unfinished feticide: a legal commentary. (2/7)
Jansen expresses concern as to the legal implications of both selective reduction of pregnancy and unsuccessful attempts at termination of pregnancy using mifepristone. This commentary examines the legality of both procedures and concludes that Jansen is over-optimistic in his belief that neither procedure is likely to fall foul of the criminal laws on induced abortion. By contrast his anxieties about civil liability arising from the subsequent live birth of a damaged infant are, it is suggested, unnecessarily pessimistic. Such an action is most unlikely to succeed if brought by the infant herself and any claim on the part of the mother will normally be dependent on proof of negligence. The commentary focusses on the law in England with relevant references to other common law jurisdictions. (+info)Paternalism versus autonomy: medical opinion and ethical questions in the treatment of defective neonates.(3/7)
(+info)Death by judiciary order.(4/7)
(+info)No right to sue for "wrongful life.(5/7)
(+info)Supplementary annual report of Council, 1982-1983: medical ethics.(6/7)
(+info)One man's burden.(7/7)
(+info)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.
List of MeSH codes
Polyhydramnios
Macroglossia
Causes of hearing loss
Hereditary sensory and autonomic neuropathy
List of diseases (D)
Ribosomopathy
Porencephaly
Birth defect
XXXXY syndrome
List of diseases (T)
Sengers syndrome
Perinatal stroke
List of diseases (C)
Calvarial doughnut lesions-bone fragility syndrome
Strømme syndrome
Nemaline myopathy
List of diseases (P)
Hemolytic jaundice
Polycythemia
Genetic testing
List of dog diseases
NDUFB11
Teratology
Childhood cataract
Albert de la Chapelle
List of skin conditions
Aagenaes syndrome
Cerebellar hypoplasia
Potter sequence
Inbreeding
Fetal alcohol spectrum disorder
List of OMIM disorder codes
Cerebral palsy
Jaundice
Pneumothorax
Management of cerebral palsy
Ankyrin-2
Audiology and hearing health professionals in developed and developing countries
Leukodystrophy
List of MeSH codes (C16)
Browsing EB125 by Subject "Congenital, Hereditary, and Neonatal Diseases and Abnormalities"
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Leigh syndrome due to mitochondrial complex V deficiency (Concept Id: C1850600)
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"Knowledge Base of Adolescents with Congenital Heart Disease" by Mark Gelatt, Julie Martin et al.
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Hemophilia A | Palmetto Profiles
Symptoms2
Deficiency9
- 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)
Metabolic1
- CASE REPORT A Japanese male term infant developed severe hemolytic anemia and metabolic acidosis in the early neonatal period. (bvsalud.org)
Developmental1
- 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)
MeSH1
- Skin Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
Clinical2
Inborn1
- 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)
Pulmonary1
- 9. Pulmonary consequences of congenital and acquired primary immunodeficiency states. (nih.gov)
Structural2
- Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. (nih.gov)
- Congenital structural abnormalities of the skin. (harvard.edu)
20171
- Semin Fetal Neonatal Med 2017 Dec;22(6):360-366. (beds.ac.uk)
Heart Disease3
- 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)
Coronary Artery1
- Impact of lifestyle modification on symptomatic coronary artery disease in a haemophilia patient with inhibitors. (musc.edu)
Weakness1
- 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)
Phenotype1
- Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. (harvard.edu)
Severe1
- December 2020 from the private hospital's Ethics as well as severe neonatal jaundice. (who.int)
Autosomal3
- 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)
Disorder1
- 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)
Adult3
- 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)
Mitochondrial1
- Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicity. (ucdenver.edu)
INFANT2
- 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)
Patients1
- 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)
Cancer2
- 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)
Year1
- 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)
Period1
- Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. (beds.ac.uk)
Complex1
- A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. (ucdenver.edu)