Pages

HERDITARY DISORDER---DEFECTIVE ENZYME

o   Tay sachs------------hexaminidase

o   Niemann picks------sphingomyelinase

o   Gaucher;s-----------b glucocerebrosidase

o   Alkaptonuria--------homogentisateoxidase

o   Homocystinuria----cystathion synthetase

o   Phenylketonuria---phenylalaninehydroxylase

o   Hartnup dis--------tryptophan pyrolase

o   Albinism------------tyrosinase

o   Galactosemia------galactose 1 PO4 uridyl transferaaase

o   Maple syrup urine dis------branched chain a keto acid dehydrogenase

CLASSIFICATION OF DISORDER OF SEXUAL DEVELOPMENT

• DISORDER OF CHROMOSOMAL SEX------this occurs when the no. or structure of the X , Y chromosome is abnormal. Eg---klinefelter synd 47 XXY , XX male (46XX) , turner synd (gonadal dysgenesis) 45 XO , 46 , XX/45X ; mixed gonadal dysgenesis46 , XY/45X ; true hermaphroditism 46 , XX or 46,XY or mosaics
• DISORDER OF GONADAL SEX-----disorder of gonadal sex result when chromosomal sex is normal but differentiation of the gonads is abnormal. Eg---pure gonadal dysgenesis ; dysgenetic testes ; absent testes synd
• Disorser of phenotypic sex----in these disorders the individuals with normal gonads and normal chromosomal pattern but with abnormal urogenital tract. Eg.---1.female pseudohermaphrodite---congenital adrenal hyperplasia , nonadrenal female pseudohermaphroditism , developmental disorders of mullerian ducts 2..male pseudohermaphrodite------abnormalities in androgen synthesis , abnormalities in androgen action , persistent mullerian duct synd , developpmental defects of male genitalia

LEUKOCORIA (AMAUROTIC CATS EYE REFLEX)

•             Retinoblastoma

•             Congenital cataract

•             Inflammatory deposits in the eye

•             Coloboma of the choroid

•             Retrolental fibroplasia

•             Persistent hyperplastic primary vitreous

•             Toxocara endopthalmitis

•             Exudative retinopathy of coats

•             Tuberculoma of choroid

•             Retinal detachment

most common

MOST COMMON
 
• Type of thyroid cancer after radiation----papillary ca
• Thyroid ca associated with dystrophic calcification---papillary ca
• Psammoma bodies are seen in---papillary ca
• Orohan annie eyed nuclei are seen in---papillary ca
• Best prognosis of which thyroid ca---papillary ca
• Type of thyroid cancer assoc with MEN synd---medullary ca
• Thyroid ca assoc with amyloidosis----medullary ca
• Latent period for radiation induced thyroid ca----about 30 years
• Ca derived from the C cells of thyroid----medullary
• Benign tumour of salivary gland-----pleomorphic adenoma
• Tumour of major salivary gland-----pleomorphic
• Tumour of minor salivary gland-----malignant tumour
• Site of pleomorphic adenoma in parotid is----superficial lobe
• Common in female----pleomorphic adenoma
• Type of malignant melanoma----superficial spreading
       type
 
• Most malignant type of melanoma------nodular type and acral lentiginous melanoma
• Most common site of malignant melanoma---
                                  in female----lower leg
                                  in male-------front or back of trunk
                                  of lentigo maligna melanoma----face
                                  of acral lentiginous melanoma----- sole of foot
• Least common type of m.m.---------lentigo maligna melanlma
• Least malignant type----------lentigo maligna melanoma
• Most common pure malignant germ cell tumor of the ovary ---dysgerminoma
• Abdominal tumour in children----neuroblastoma
• Tumour in children-----brain tumor
• Post fossa tumor in child---astrocytoma
• Tumor in infant---neuroblastoma
• Lung ca—SQAMOUS CELL CA---mc lung ca in india , cavitates , best       prognosis , central in location , hypercalcemia d/t PTH like substance
                     ---ADENOCARCINOMA---mc lung ca in the world , young pt , metastasize to opposite lung , thrombophlebitis , peripheral in location
     SMALL CELL CA---mc histologic variety to metastasize , clubbing least common , worst prognosis , most responsive to chemotheray , most responsive to radiotherapy , cushing's synd
     LARGE CELL CA---gynaecomastia
 
• Most common fibroma-----intramural ( 75 %)
• Most frquent complication during pregnancy----red degeneration
• Most common age group affected----20-30 years
• Most common menstrual symptom seen-----menorrhagia
• Least common complication-----sarcomatous change ( 0.5 %)
• Mc symptom of genital tuberculosis----hematogenous
• Mc site of genital tb----fallopian tube
• Mc route of transmission of genital tb---hematogenous
• Mc Posterior fossa tumor in childhood------cerbellar astrocytoma
• 2nd mc posteriorfossa tumor in childhood--- medulloblastoma
• CMV is the mc opportunistic infection in a renal transplant [ or any transplant ] patient.

BIOCHEMISTRY

ENZYME DEFICIENCY

HMG CoA reductase---cholesterol synthesis
 Phosphofructokinase---glycolysis
Acetyl CoA carboxylase---fatty acid synthesis
 Tyrosinase hydroxylase---catecholamine synthesis
 7 alpha hydroxylase---bile acid synthesis
Glycogen synthtase---glycogen synthesis
 Glycogenphosphorylase---glycogenolysis
 Carbamoyl transferase---urea synthesis
 HMG CoA synthetase---ketone body synthesis
 Isocitrate dehydrogenase---TCA cycle

RADIOLOGY

• IMP RADIOLOGICAL FEATURE
• Spider leg appearance----polycystic kidney
• Cobra head appearance---ureterocele
• Flower vase appearance of ureters---horse shoe kidney
• Sandy patches---schistosomiasis of bladder
• Soap bubble appearance---hydronephrosis
• Apple core lesion on barium ---ca colon
• Claw appearance on barium enema—intussusception
• Saw tooth appearance----diverticula of colon
• Birds beek appearance of esophagus on ba meal---achalasia
• Cork screw appearance of esophagus on barium meal---diffuse esophageal spasm
• String sign of cantor----crohn's dis
• Thumb printing sign---ischemic colitis
• EGG SHELL CALCIFICATION----silicosis , sarcoidosis , scleroderma , histoplasmosis , amyloidosis , lymphoma following radiotherapy