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Asbestosis :
is a disease caused by a family of fibrous silicates commonly found in shipyards,
insulation, and roofing industries. Many years after exposure, patients complain of dyspnea and
chronic dry cough, along with recurrent respiratory infections (especially viral) and weight
loss. Classic pathological findings include lower lobe interstitial fibrosis with septal wall
widening, worse near the periphery of the lung. Chest x-ray often reveals hyperinflation of the
normal parenchyma leading to "honeycombing." Calcified parietal pleural plaques are also
commonly present. Secondary bronchiectasis may complicate the picture.
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| sfk
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nice posts motivation, how long are u planning to read FA?
___________________
Forum Elite, But Step 2 Newbie....
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| motivation
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THANKS sfk. actually i,m doing daily FA for about an hour. Will be done soon.
how,s everything going on? good luck.
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TABLE of GENETIC DISORDERS=
1)Autosomal Dominant Polycystic Kidney Disease (ADPKD.Autosomal Dominant
2)
Fanconi’s Syndrome II<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
(Adult-onset)-Autosomal Recessive. Defective resorption in proximal tubules.
Similar to Fanconi Syndrome Type I, but without the cystinosis. Adult onset osteomalacia, amino-aciduria, polyuria, glycosuria.
3)
Fanconi’s Syndrome Type I
(Child-onset cystinosis)
Autosomal Recessive. Deficient resorption in proximal tubules.(1) Cystine deposition throughout body, cystinuria. (2) Defective tubular resorption leads to amino-aciduria, polyuria, glycosuria, chronic acidosis; Hypophosphatemia and Vitamin-D-resistant Rickets.
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4)
<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
Bartter’s Syndrome
Juxtaglomerular Cell Hyperplasia, leading to primary hyper-reninemia
Elevated renin and aldosterone, hypokalemic alkalosis. No hypertension.
5)
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Numerous, diffuse bilateral cysts formed in the collecting ducts. Associated with hepatic fibrosis
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6)Glycolytic enzyme deficiencies
Autosomal Recessive. Defect in hexokinase, glucose-phosphate isomerase, aldolase, triose-phosphate isomerase, phosphate-glycerate kinase, or enolase. Any enzyme in glycolysis pathway
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Hemolytic anemia results from any defect in the glycolysis pathway, as RBC’s depend on glycolysis for energy.
7)Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
X-Linked Recessive. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency ———> no hexose monophosphate shunt ———> deficiency in NADPH ———> inability to maintain glutathione in reduced form, in RBC’s
Susceptibility to oxidative damage to RBC’s, leading to hemolytic anemia. Can be elicited by drugs (primaquine, sulfonamides, aspirin), fava beans (favism). More prevalent in blacks.
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8)Phenylketonuria (PKU)-Nitrogen Metabolism Defect,Autosomal Recessive. Phenylalanine hydroxylase deficiency (cannot break down Phe nor make Tyr) ———> buildup of phenylalanine, phenyl ketones (phenylacetate, phenyl lactate, phenylpyruvate) in body tissues and CNS.
Symptoms result from accumulation of phenylalanine itself. Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
Treatment: remove phenylalanine from diet.
9)
Maple Syrup Urine Disease
Nitrogen Metabolism Defect,Autosomal Recessive. Deficiency of branched chain keto-acid decarboxylase ———> no degradation of branched-chain amino acids ———> buildup of isoleucine, valine, leucine.
Severe CNS defects, mental retardation, death. Person smells like maple syrup or burnt sugar. Treatment: remove the amino acids from diet.
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10)Lesch-Nyhan Syndrome-
Nitrogen Metabolism Defect,
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X-Linked Recessive. Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) deficiency ———> no salvage pathway for purine re-synthesis ———> buildup of purine metabolites
Hyperuricemia (gout), mental retardation, self-mutilation (autistic behavior), choreoathetosis, spasticity
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11)Homocystinuria-Nitrogen Metabolism Defect
Autosomal Recessive. Cystathionine synthase defect (either deficiency, or lost affinity for pyridoxine, Vit. B6) ———> buildup of homocystine and deficiency of cysteine.
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Mental retardation, ectopia lentis, sparse blond hair, genu valgum, failure to thrive, thromboembolic episodes, fatty changes of liver.
Treatment: Cysteine supplementation, give excess pyridoxine to compensate for lost pyridoxine affinity.
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12)Alkaptonuria-
<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
Nitrogen Metabolism Defect
,Autosomal Recessive. Homogentisic Oxidase deficiency (inability to metabolize Phe and Tyr) ———> buildup and urinary excretion of homogentisic acid,Urine turns dark and black on standing, ochronosis (dark pigmentation of fibrous and cartilage tissues), ochronotic arthritis, cardiac valve involvement. Disease is generally benign.
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13)Albinism-Nitrogen Metabolism Defect,Autosomal Recessive. Tyrosinase deficiency ———> inability to synthesize melanin from tyrosine. Can result from a lack of migration of neural crest cells.
Depigmentation, pink eyes, increased risk of skin cancer
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14)Tay-Sachs Disease-
<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
Lysosomal Storage Disease
Autosomal Recessive. Hexosaminidase A deficiency ———> accumulation of GM2 ganglioside in neurons
CNS degeneration, retardation, cherry red-spot of macula, blindness (amaurosis). Death before age 4.
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15)Hurler’s Syndrome-
<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
Lysosomal Storage Disease
Autosomal Recessive. α-L-iduronidase deficiency ———> accumulation of mucopolysaccharides (heparan sulfate, dermatan sulfate) in heart, brain, liver, other organs
Gargoyle-like facies, progressive mental deterioration, stubby fingers, death by age 10. Similar to Hunter’s Syndrome
16)Hunter’s Syndrome-X-Linked Recessive. L-iduronosulfate sulfatase deficiency ———> buildup of mucopolysaccharides,Similar to but less severe than Hurler Syndrome. Hepatosplenomegaly, micrognathia, retinal degeneration, joint stiffness, mild MR, cardiac lesion
(hunter x linked)
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17)Niemann-Pick Lipidosis -Autosomal Recessive. Sphingomyelinase deficiency ———> accumulation of sphingomyelin in phagocytes,Sphingomyelin-containing foamy histiocytes in reticuloendo-thelial system and spleen. Hepatosplenomegaly, anemia, fever, sometimes CNS deterioration. Death by age 3
18)Gaucher’s Disease-Autosomal Recessive. Glucocerebrosidase deficiency ———> accumulation of glucocerebrosides (gangliosides, sphingolipids) in lysosomes throughout the body.
· Type-I: Adult form. 80% of cases, retain partial activity. Hepatosplenomegaly, erosion of femoral head, mild anemia. Normal lifespan with treatment.<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
· Type-II: Infantile form. Severe CNS involvement. Death before age 1.
Type-III: Juvenile form. Onset in early childhood, involving both CNS and viscera, but less severe than type11
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<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />19)
Fabry’s Disease-
X-Linked Recessive. α-Galactosidase A deficiency ———> buildup of ceramide trihexoside in body tissues.Angiokeratomas (skin lesions) over lower trunk, fever, severe burning pain in extremities, cardiovascular and cerebrovascular involvement
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Thats all for tonight,
good night,
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20)Agammaglobulinemia (Bruton’s Disease)-SXR Mutation in gene coding for tyrosine kinase causes failure of Pre-B cells to differentiate into B-Cells.
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Recurrent pyogenic infections after 6 months (when maternal antibodies wear off). Can treat with polyspecific gamma globulin preparations.
21)Wiskott-Aldrich Syndrome-SXR,
Inability to mount initial IgM response to the capsular polysaccharides of pyogenic bacteria.
IN infancy, recurrent pyogenic infections, eczema, thrombocytopenia, excessive bleeding. IgG levels remain normal.
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22)Thymic Aplasia (DiGeorge Syndrome)-
Failure of development of the 3rd and 4th Pharyngeal Pouches ———> agenesis of the thymus and parathyroid glands.T-Cell deficiency from no thymus. Hypocalcemic tetany from primary parathyroid deficiency.
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23)Selective IgA Deficiency-IgA deficiency may be due to a failure of heavy-chain gene switching.
The most common congenital immune deficiency. There also exists selective IgM and IgG deficiencies, but they are less common.
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24)Job’s Syndrome-Phagocyte Deficiency,A failure to produce γ-Interferon by T-Helper cells, leading to an increase in TH2 cells (no negative feedback) ———> excessively high levels of IgE.
High histamine levels, eosinophilia. Recurrent cold (non-inflammatory) Staphylococcal abscesses (resulting from high histamine), eczema.
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25)Chronic Mucocutaneous Candidiasis-T-Cell deficiency specific to Candida.Selective recurrent Candida infections. Treat with anti-fungal drugs
26)Chronic Granulomatous Disease-SXR,
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NADPH Oxidase deficiency ———> no formation of peroxides and superoxides ———> no oxidative burst in phagocytes. Failure of phagocytes leads to susceptibility to infections, especially Staph Aureus and Aspergillus B and T cells usually remain normal.
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27)Chédiak-Higashi Syndrome-Defect in polymerization of microtubules in neutrophils ———> failure in neutrophil migration and phagocytosis. Also results in failure in lysosomal function in neutrophils.
Recurrent pyogenic infections, Staphylococcus, Streptococcus
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28)Severe Combined Immunodeficiency (SCID)-Autosomal Recessive. Adenosine Deaminase deficiency ———> accumulation of dATP ———> inhibit ribonucleotide reductase ———> decrease in DNA precursors
Severe deficiency in both humoral and cellular immunity, due to impaired DNA synthesis. Bone marrow transplant may be helpful in treatment
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29)Ataxia-Telangiectasia-AR,. Numerous chromosomal breaks and elevated AFP is found. Symptomatic by age 2 years
Cerebellar ataxia, telangiectasia (enlarged capillaries of face and skin), B and T-Cell deficiencies, IgA deficiency.
30) Von Willebrand Disease- Von Willebrand Factor deficiency ———> defect in initial formation of platelet plugs, and shorter half-life of Factor VIII in blood.
Hemorrhage, similar to hemophilia.<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
Type-I: Most mild. Type-II: Intermediate. Type-III: most severe, with recessive inheritance (complete absence).
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31. Hemophilia B (Factor IX Deficiency)-SXR,Milder than Hemophilia A. Hemorrhage, hematuria, hemarthroses. Prolonged PTT.
32.Hemophilia A -Factor VIII deficiency,SXR,
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Hemorrhage, hematuria, hemarthroses. Prolonged PTT.
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