Short notes with picture medicine

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- Pediatric Flashcards on Short notes with picture medicine, created by Ali Almudarsy on 04/09/2018.
Ali Almudarsy
Flashcards by Ali Almudarsy, updated more than 1 year ago More Less
Masar Algurapi
Created by Masar Algurapi over 6 years ago
Ali Almudarsy
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Toxoplasmosis /transplacental:1 infection via consumption of raw meat or contact with cat feces/hydrocephalus , intracranial calcifications , Chorioretinitis , Ring -enhancing lesion on MRI / SEROLOGICAL test / PYRIMETHAMINE + sulfadiazine/ prevention :- avoid exposure to cat feces during pregnancy aspiramycin , prophylaxis for the third trimester
strawberry =====>Trichomoniasis
1.Genetic diseases:- CYSTIC FIBROSIS AUTOSOMAL RECESSIVE DISORDER
2.Genetic diseases :- Down syndrome Meiotic nondisjunction (95%), robertsonian translocation (4%), or mosaicism (1%) \\\\\\\\\\\\\\\\\\\\\\\\\ a flat facial profile, upslanted eyes simian crease, general hypotonia duodenal atresia, Hirschsprung’s disease, congenital heart disease. AV canal (60%); ASDs, VSDs, and PDAs \\\\\\\\\\\\\\\\\\ ↑ risk of acute lymphocytic leukemia (aLL), hypothyroidism, and early-onset alzheimer’s.
3.Genetic diseases:- Edwards’ syndrome rocker-bottom feet micrognathia, clenched hands (overlapping fourth and fifth digits) death usually occurs within 1 year of birth.
4.Genetic diseases:- Patau’s syndrome Trisomy 13 microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, “punched-out” scalp lesions, polydactyly, and omphalocele. death usually occurs within 1 year of birth.
5.Genetic diseases:- Klinefelter’s syndrome (male)47, XXY Associated with advanced maternal age hypogonadism testicular atrophy tall stature, long extremities, gynecomastia, and female hair distribution Treat with testosterone
6.Genetic diseases:-Turner’s syndrome(female) 45, XO The most common cause of 1° amenorrhea; due to ovarian dysgenesis (↓ estrogen). a webbed neck, coarctation of the aorta (↓ femoral pulses) lymphedema of the hands and feet in the neonatal period ---------------------------------------------- Estrogen replacement therapy for ovarian dysgenesis.
7.Genetic diseases:-Double Y males 47, XYY Phenotypically normal; patients are very tall with severe acne and antisocial behavior (seen in 1–2% of XYY males).
8.Genetic diseases:-Phenylketonuria (PKU) Autosomal recessive; ↓ phenylalanine hydroxylase or ↓ tetrahydrobiopterin cofactor -------------------------------------- fair hair and skin, eczema, blond hair, blue eyes, and a musty urine odor. ----------------------------------------- Modify diet by decreasing phenylalanine (artificial sweeteners) and increasing tyrosine. -------------------------------------------
9.Genetic diseases:- Fragile X syndrome An X-linked dominant defect affecting the methylation and expression of the FMR1 gene -----------------------------------------------------
Yoga
fat-soluble vitamin deficiency
vitamin deficiency vitamin deficiency
1.Lysosomal storage diseases :-Fabry’s disease \ X-linked recessive. ----------------------------------------------------- Caused by a deficiency of α-galactosidase A ------------------------------------------------------
2.Lysosomal storage diseases :-Krabbe’s disease \ Autosomal recessive.\ death within the first 3 years of life. ---------------------------------------------- Absence of galactosylceramide and galactoside (due to galactosylceramidase deficiency), leading to the accumulation of galactocerebroside in the brain ----------------------------------------------------- progressive cNs degeneration, optic atrophy, spasticity, and death within the first 3 years of life.
3.Lysosomal storagediseases :-Gaucher’s disease \ Autosomalrecessive.\deficiency of glucocerebrosidase ---------------------------------------- crinkled paper anemia and thrombocytopenia.
4.Lysosomal storagediseases :-Niemann-Pick disease \ Autosomalrecessive.\ A die by age 3. ----------------------------------------------------- deficiency of sphingomyelinase ------------------------------------------------------ cherry-red spot and hepatosplenomegaly . ---------------------------------------------------- https://www.youtube.com/watch?v=_jaJpWBhvnY
5.Lysosomal storagediseases :-Tay-Sachs disease\tay-saX lacks heXosaminidase.\ Death occurs by age 3. -------------------------------------------------cherry-red spot but no hepatosplenomegaly.
6.Lysosomalstoragediseases :-Metachromatic leukodystrophy\ Autosomal recessive.\A deficiency of arylsulfatase --------------------------------------------------------- A that leads to the accumulation of sulfatide in the brain, kidney, liver, and peripheral nerves. demyelination leads to progressive ataxia and dementia.
7.Lysosomalstoragediseases :- Hurler’s syndrome\ Autosomal recessive.\A deficiency of α-L-iduronidase ----------------------------------------------- corneal clouding, mental retardation, and gargoylism
8.Lysosomalstoragediseases :- Hunter’s syndrome \X-linked recessive. Hunters need to see (no corneal clouding) to aim for the X.\A deficiency of iduronate sulfatase.\ ------------------------------------------------ A mild form of Hurler’s syndrome with no corneal clouding and mild mental retardation
b-C eLL d isorders b-C eLL d isorders
b-C eLL d isorders
t-C eLL d isorders
C oMbined d isorders
p hAgoCytiC d isorders
p hAgoCytiC d isorders
C oMpLeMent d isorders
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