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Defective in Medical Dictionary

Autosomal recessive

... gene is autosomal recessive , meaning the disease occurs only if a defective gene is inherited from both parents. Infants with A-T initially often ... Tay-Sachs is an autosomal recessive disorder; a person must have two defective genes (one from each parent) in order for the disease to occur. ...

Carrier

... can be prevented by treatment . If both parents are carrier s of the defective cystic fibrosis gene , their child has a 25 percent chance of ... carrier s). Children of carrier s have a 50% chance of inheriting the defective gene . If they inherit it, the boys will be hemophilia cs, and the girls ...

Chromosome

... for making protein s necessary to properly use the element copper is defective in people with this condition. Fortunately, you must inherit a defective gene from both your mother and father to have Wilson's disease . ...

Sickle Cell

... Sickle cell trait - The child is carrying the defective gene , HbS, but also has some normal hemoglobin , HbA. This is referred ... condition characterized by abnormal red blood cells containing a defective form of hemoglobin . Sickle cell anemia occurs in people who inherit ...

Acrodysostosis

... disease , but the specific gene is unknown at this time. It is inherited in a dominant fashion, which means that if one parent passes on the defective gene , the child will be affected. Acrodysostosis Dr Trisha Macnair Acrodysostosis is a rare inherited condition that affects the development ...

Anemia

... bone marrow . Hematology The science that studies the blood . Hematuria Blood in the urine . First , we have characterized the protein defective in a strain of mouse, flexed-tail, that has an anemia associated with pathologic iron deposition in mitochondria, a so-called sideroblastic ...

Atrophy

... as tenderness exists, that is, all forms of the Douche . LIPO ATROPHY : Loss of subcutaneous fat , eg, in the face and limbs. LIPODYSTROPHY: defective metabolism of fat . Includes fat loss, such as wasting in the face, arms, and legs, and fat redistribution, such as fat accumulation in the ...

Autosomal dominant

... ) causes kidney failure in early childhood. Hereditary amyloidosis is though to be autosomal dominant , which means that only one copy of the defective gene is necessary to cause the disease . A child of a parent with familial amyloidosis has a 50-50 chance of developing the disease . ...

Bicuspid

... valve with three leaflets (triscupid). MITRAL INSUFFICIENCY - The back flow of blood from the left ventricle to the left atrium through a defective mitral [ bicuspid ] valve. The most common cause for mitral regurgitation is rheumatic fever . Aortic coarctation is more common in some ...

Bone pain

... of breath, fever , chills , and less frequently, bone pain . Acute episodes of bone pain caused by blockage of normal circulation by the defective blood cells is called a sickle cell crisis. Violent, hollow, barking cough s Difficulty breathing Growing pains and bone pain return ...

Burns

... with a caustic chemical contact with a hot object, such as curling irons, cigarettes, or stoves electricity, such as electrical outlets or defective appliances excess exposure to sunlight ... BURNS "The evaporating compress ; the cool irrigating compress (cool, wet cloth over it to reduce ...

Caustic

... with a caustic chemical contact with a hot object, such as curling irons, cigarettes, or stoves electricity, such as electrical outlets or defective appliances excess exposure to sunlight ... Chemical peels employ a variety of caustic chemicals to selectively destroy several layers of ...

Cell

... matrix and control the cellular shape, ... sickle cell anemia A genetic condition characterized by abnormal red blood cells containing a defective form of hemoglobin . Sickle cell anemia occurs in people who inherit the gene from both parents. For small cell cancer , chemotherapy ...

Chromosomes

... baby. Girls inherit two X chromosomes , one from their mother and one from their father. The X-X combination makes them female. Women who have a defective gene that causes a disorder are simply carrier s and exhibit no signs or symptoms of the disease . 1920 - Chromosomes are proposed as the ...

Congenital cataract

... ... Congenital cataract s may be inherited. The gene for such cataracts is dominant ( autosomal dominant inheritance), which means that the defective gene will cause the condition even if only one parent passes it along. Congenital cataract s, which emerge before the first birth day, often ...

Cuspid

... valve with three leaflets (triscupid). MITRAL INSUFFICIENCY - The back flow of blood from the left ventricle to the left atrium through a defective mitral [ bi cuspid ] valve. The most common cause for mitral regurgitation is rheumatic fever . microwave catheter ablation system ...

Cystinuria

... Homo cystinuria is inherited as an autosomal recessive trait, which means that the child must inherit the defective gene from both parents to be seriously affected. Cystinuria is the most common defect in the transport of an amino acid . Although cystine is ...

Degenerative joint disease

... , cardiac disease , and degenerative joint disease . Deficiency - Niacin ( Pellagra ) Deficiency - Vitamin C ( Scurvy ) Deficient or defective Apo lipoprotein E (Familial Dysbetalipoproteinemia) Degenerative Joint Disease ( Osteoarthritis ) Dehydration ... Answer: Although I would ...

Gene

... of sickle cell anemia , one gene for the illness must be inherited from both parents. Unfortunately, there is currently no way to correct a defective gene . Improved therapies, however, are giving children with serious gene tic disorders longer, more comfortable lives. The outlook may improve ...

Gene Therapy

... therapy is a term used to describe 'inserting' or somehow 'giving' a person the normal gene that they are missing, or replacing a gene that is defective in some way. One disease where gene therapy has been utilized is known as SCID. Gene therapy Specific genes in your body might direct ...

Genetic

... Diagnostics Pasteur (800-424-9771). Source: PR Newswire - 11/16/98. A genetic condition characterized by abnormal red blood cells containing a defective form of hemoglobin . Sickle cell anemia occurs in people who inherit the gene from both parents. Molecular Genetic s of Chromosome ...

Hardening Of The Arteries

... beat. Atherosclerosis ( hardening of the arteries ) Pre-existing aortic aneurysm (weakened and bulging artery ) Bicuspid aortic valve (a defective aortic valve) Aortic coarctation (constriction of the aorta ) ... Atherosclerosis ( hardening of the arteries ) is a condition where fatty ...

Hypoxia

... treatment . hypoxic ... Under intense stress ful conditions, exhaustion, hypoxia (low oxygen ), and/or severe infection , the sickling of the defective hemoglobin may occur and result in some complications associated with the sickle cell disease . Signs: Irritation of the skin may cause ...

Identical twins

... Identical twins born joined together. sickle cell anemia A genetic condition characterized by abnormal red blood cells containing a defective form of hemoglobin . Sickle cell anemia occurs in people who inherit the gene from both parents. Because identical twins have the same ...

Immunity

... exercise s. Multi ple symptoms may include telangiectasis ( dilation of capillaries), ataxic (uncoordinated) gait, proneness to infection , defective humoral and cellular immunity and increased risk of malignancies. ...

Lipoprotein

... in the apo lipoprotein A-II gene of a patient with kidney damage caused by amyloidosis . FAMILIAL COMBINED HYPERLIPIDEMIA - Inherited as a defective gene , this disorder is characterized by elevations in serum cholesterol and/or triglycerides. There are often multi ple types of lipoprotein ...

Mesothelioma

... most soft tissue sarcoma s. Known causes include asbestos for most cases of mesothelioma , and virus es for Kaposi's sarcoma in people with defective immune system s. As an example, exposure to asbestos fiber s can cause an uncommon cancer of the lung called mesothelioma . But the most ...

Pellagra

... syndrome ; pell; pellack; pellage; pellagra ; ... Deficiency - Niacin ( Pellagra ) Deficiency - Vitamin C ( Scurvy ) Deficient or defective Apo lipoprotein E (Familial Dysbetalipoproteinemia) Degenerative Joint Disease ( Osteoarthritis ) Dehydration ... NIACIN - Member of the ...

Phenylketonuria

... Phenylketonuria ( PKU ) is inherited as an autosomal recessive trait (both parents must pass on the defective gene for the child to be affected). Phenylketonuria is a type of birth defect a child inherits from both parents, who pass along the ...

Polycystic Kidney

... cysts impair normal kidney function. Renal cell carcinoma Cancer of the kidney . In polycystic kidney disease ( PKD ), children inherit defective genes that cause the kidney s to develop many cysts , sacs of fluid that replace healthy tissue and keep the kidney s from doing their job. ...

Proliferation

... in breast cancer . Genes that cause cancer proliferation (called onco genes ) and those that normally suppress tumor s but are defective ( tumor suppressor genes ) may play separate roles in a step-by-step process leading to primary brain cancer . A poorly functioning digestive ...

Pulmonary

... Defect : Abnormal opening between the two upper chambers ... Ross pulmonary porcine valve Stent less heart valve designed for replacement of defective heart valves in children. CryoLife has purchased patent. Clinical testing to begin in Europe in 1997. Mfg: CryoLife. Source: PR Newswire. ...

Sickle cell anemia

... chemotherapy and radiation therapy ... sickle cell anemia A genetic condition characterized by abnormal red blood cells containing a defective form of hemoglobin . Sickle cell anemia occurs in people who inherit the gene from both parents. Sickle cell anemia occurs mostly in blacks ...

Sickle cell trait

... Sickle cell trait - The child is carrying the defective gene , HbS, but also has some normal hemoglobin , HbA. This is referred to as HbAS. Children with sickle cell trait are usually without symptoms ...

Strain

... these genetic changes to other strain s , making them more resistant to antibiotic treatment . First , we have characterized the protein defective in a strain of mouse, flexed-tail, that has an anemia associated with pathologic iron deposition in mitochondria, a so-called sideroblastic ...

Thalassemia

... Thalassemia includes a number of different forms of anemia . Thalassemia Definition: Thalassemia s are hereditary disorders characterized by defective production of hemoglobin . This leads to low production, and excessive destruction, of red blood cells. Thalassemia Occuring in a number of ...

Tricuspid valve

... and lower chambers on the right side of the heart ) is severely narrowed. congenital heart disease , in which the infant is born with an defective tricuspid valve congestive heart failure a heart attack pulmonary hypertension , or high blood pressure in the arteries that carry ...

Vitamin B12

... a sufficient amount. Some but not all patients with methylmalonicaciduria respond to vitamin B12 . An enzyme called methylmalonyl-CoA mutase is defective in the disease . This enzyme requires the presence of adenosyl cobalamin , a form of vitamin B12 . Nascobal gel (cyano cobalamin , USP) ...
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