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