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  • mutations
  • Certain gene mutations causing congenital hypfibrinogenemia disrupt the ability of liver cells to secrete fibrinogen. (wikipedia.org)
  • In terms of the mechanism of congenital hyperinsulinism one sees that channel trafficking requires KATP channels need the shielding of ER retention signal.E282K prevents the KATP channel surface expression, the C-terminus (SUR1 subunit) is needed in KATP channel mechanism.R1215Q mutations (ABCC8 gene) affect ADP gating which in turn inhibits KATP channel. (wikipedia.org)
  • rubella
  • Congenital heart defects are partly preventable through rubella vaccination , the adding of iodine to salt, and the adding of folic acid to certain food products. (wikipedia.org)
  • infants
  • Milder forms have occasionally been detected by investigation of family members of infants with severe forms, adults with the mildest degrees of congenital hyperinsulinism have a decreased tolerance for prolonged fasting. (wikipedia.org)
  • For optimal visual development in newborns and young infants, a visually significant unilateral congenital cataract should be detected and removed before age 6 weeks, and visually significant bilateral congenital cataracts should be removed before age 10 weeks. (wikipedia.org)
  • Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem: excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, exaggerated jaundice, and low body temperature. (wikipedia.org)
  • One Japanese study found a statistical correlation between certain organochlorine insecticides and dioxin-like chemicals in the milk of mothers who had given birth to infants with congenital hypothyroidism. (wikipedia.org)
  • abnormalities
  • Several terms are used to describe congenital abnormalities. (wikipedia.org)
  • Other presentations are: Dizziness Intellectual disability Hypoglycemic coma Cardiomegaly The variable ages of presentations and courses suggest that some forms of congenital hyperinsulinism, especially those involving abnormalities of KATP channel function, can worsen or improve with time the potential harm from hyperinsulinemic hypoglycemia depends on the severity, and duration. (wikipedia.org)
  • metabolic
  • Amnion ruptures can be caused by: teratogenic drugs (e.g. thalidomide, which causes phocomelia), or environmental chemicals ionizing radiation (atomic weapons, radioiodine, radiation therapy) infections metabolic imbalance trauma Congenital amputation is the least common reason for amputation, but it is projected[by whom? (wikipedia.org)
  • Laboratory Tests : In contrast to unilateral cataracts, bilateral congenital cataracts may be associated with many systemic and metabolic diseases. (wikipedia.org)
  • cataract
  • More than 25 loci and genes on different chromosomes have been associated with congenital cataract. (wikipedia.org)
  • Congenital cataract are responsible for nearly 10% of all vision loss in children world wide. (wikipedia.org)
  • Congenital cataract are one of the most common treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births. (wikipedia.org)
  • syndromes
  • The differential diagnosis of congenital hyperinsulinism is consistent with PMM2-CDG, as well as several syndromes. (wikipedia.org)
  • Congenital myasthenic syndromes (CMS) is "often difficult to diagnose because of a broad differential diagnosis and lack of specific laboratory findings. (wikipedia.org)
  • rare
  • Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. (wikipedia.org)
  • known
  • A baby with congenital amputation can be missing a portion of a limb or the entire limb, which results in the complete absence of a limb beyond a certain point where only a stump is left is known as transverse deficiency or amelia. (wikipedia.org)
  • birth
  • Take 400 micrograms of folic acid supplement a day during the first trimester (first 12 weeks) of your pregnancy - this lowers your risk of giving birth to a child with congenital heart disease, as well as several other types of birth defect. (www.nhs.uk)
  • Congenital amputation is birth without a limb or limbs, or without a part of a limb or limbs. (wikipedia.org)
  • Congenital cataracts refers to a lens opacity present at birth. (wikipedia.org)
  • Congenital epulis is a proliferation of cells most frequently occurring on the alveolar ridge of the upper jaw at birth. (wikipedia.org)
  • Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth. (wikipedia.org)
  • Cretinism is an old term for the state of mental and physical retardation resulting from untreated congenital hypothyroidism, usually due to iodine deficiency from birth because of low iodine levels in the soil and local food sources. (wikipedia.org)
  • The term congenital refers to a condition present from birth (not acquired) and amaurosis refers to a loss of vision not associated with a lesion. (wikipedia.org)
  • absence
  • A radioactive iodine (RAIU) exam will help differentiate congenital absence or a defect in organification (a process necessary to make thyroid hormone). (wikipedia.org)
  • often
  • Much of the language used for describing congenital conditions predates genome mapping , and structural conditions are often considered separately from other congenital conditions. (wikipedia.org)
  • Still, congenital conditions are often classified in a structural basis, organized when possible by primary organ system affected. (wikipedia.org)
  • Tests can be run to check creatine kinase in the blood, which is often normal or mildly elevated in congenital myopathies. (wikipedia.org)
  • Search
  • In the Korean drama The King of Dramas (episode 16, "In Search Of Lost Time") Anthony Kim, played by Kim Myung-min, is diagnosed with Leber's congenital amaurosis, the same disease that made his mother blind. (wikipedia.org)
  • fetus
  • They're also done if another close family member has a congenital heart defect or if the mother has a condition, such as diabetes, that might make a heart problem in the fetus more likely. (kidshealth.org)