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33.
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Von Gierke’s Disease-AR,Glucose-6-Phosphatase deficiency (cannot break down glycogen) ———> accumulate glycogen in liver and kidney,
Severe fasting hypoglycemia, hepatomegaly from lots of glycogen in liver.
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34.
Pompe’s Disease-α-1,4-Glucosidase deficiency (cannot break down glycogen) ———> accumulate glycogen in liver, heart, skeletal muscle
Cardiomegaly, hepatomegaly, and systemic findings, leading to early death.
35.
McArdle’s Disease-muscle phosphorylase deficiency (cannot utilize glycogen in skeletal muscle) ———> accumulation of glycogen in skeletal muscle.
Muscle cramps, muscle weakness, easy fatigability. Myoglobinuria with strenuous exercise.
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36.-
Cori’s Disease-Debranching enzyme deficiency AR ,(can only break down linear chains of glycogen, not at branch points) ———> accumulate glycogen in liver, heart, skeletal muscle.
Stunted growth, hepatomegaly, hypoglycemia.<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
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37.Osteogenesis Imperfecta-Connective tissue disease,Defects in Collagen Type I formation.
Multiple fractures after birth, blue sclerae, thin skin, progressive deafness in some types. (due to abnormal middle ear ossicles).<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
Type-I is most common; Type-II is most severe; Type-IV is mildest form.
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38.H.D- Huntington disease (HD) is a progressive neurodegenerative disease primarily affecting neurons in the basal ganglia. HD affects about 1 in 10,000 individuals, and is transmitted in an autosomal dominant fashion. Its average onset is from 30-40 years of age, and the duration of the disease is typically about 15 years, but shows a wide range. Early onset (juvenile HD) is associated with more rapid progression, rigidity, and ataxia. The main motor features of HD are irregular, sudden limb and facial jerks. The disease may begin with "piano-playing" movements of the fingers or slight facial twitching, but symptoms are slowly progressive and become uncontrollable. The speech slowly becomes incomprehensible and swallowing is difficult. The gait is poorly coordinated, with a dancing-like (choreiform) pattern. Although patients appear to be off-balance, the ability to balance is actually well-preserved. Depression, apathy, social withdrawal, and irritability are common. Memory is typically affected at later stages of the disease. Since HD is incurable, the ultimate result is death. The family history is relevant, since with autosomal dominant inheritance, the chance of inheriting the Huntington gene is 50%. A history of family members who commit suicide in middle-age is often associated with HD
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39.Angelman Syndrome-Deletion of part of short arm of chromosome 15, maternal copy. An example of genomic imprinting.
Mental retardation, ataxic gait, seizures. Inappropriate laughter.
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40.Cri du Chat Syndrome-5p-, deletion of the long arm of chromosome 5.
Cry of the cat.” Severe mental retardation, microcephaly, cat-like cry. Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds.
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41.
Edward’s Syndrome-Trisomy 18Mental retardation, micrognathia, rocker-bottom feet, congenital heart disease, flexion deformities of fingers. Death by 1 year old
42.
Patau’s Syndrome-Trisomy 13,Mental retardation, microphthalmia, cleft lip and palate, polydactyly, rocker-bottom feet, congenital heart disease. Similar to and more severe than Edward’s Syndrome. Death by 1 year old<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />
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43.Prader-Willi Syndrome-Deletion of part of short arm of chromosome 15, paternal copy. An example of genomic imprinting.Mental retardation, short stature, hypotonia, obesity and huge appetite after infancy. Small hands and feet, hypogonadism.
44.Fragile-X Syndrome-Progressively longer tandem repeats on the long arm of the X-chromosome. The longer the number of repeats, the worse the syndrome. Tandem repeats tend to accumulate through generations.Second most common cause of mental retardation next to Down Syndrome. Macro-orchidism (enlarged testes) in males
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45.Klinefelter’s Syndrome -Non-disjunction of the sex chromosome during Anaphase I of meiosis ———> Trisomy (47,XXY)
Hypogonadism, tall stature, gynecomastia. Mild mental retardation. Usually not diagnosed until after puberty. One Barr body seen on buccal smear.
46.Turner’s Syndrome -Non-disjunction of the sex chromosome during Anaphase I of meiosis ———> Monosomy (45,X),Streak gonads, primary amenorrhea, webbed neck, short stature, coarctation of Aorta, infantile genitalia. No mental retardation. No Barr bodies visible on buccal smear.
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46.XXX Syndrome-Trisomy (47,XXX) and other multiple X-chromosome abnormalities.
Usually phenotypically normal. May see menstrual abnormalities or mild mental retardation in some cases.
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Biochem rate limiting enzyme HY fact
Rate Limiting Enzymes
1] Cholesterol synthesis - HMG CoA Reductase
2] fatty acid synthesis - Acetyl CoA Carboxylase
3] Beta oxidation of fatty acids - Carnitine acyl transferase I
4] Glycolysis - PFK 1
5] Gluconeogenesis - Fructose 1,6-Biphosphotase
6] Glycogen synthesis - Glycogen synthase
7] Glycgenolysis - Glycogen phosphorylase
8] Pentose Phosphate Pathway - HMP Shunt - G6PD
9] Lipolysis - Hormone sensitive lipase
10] Urea Cycle - Carbamoyl phospahte synthase I
11] Purine metabolism - PRPP Amidotransferase
12] Pyrimidine metabolism - Carbamoyl phospahte synthase II
13] Heme Synthesis - ALA synthase
14] Ketone body synthesis - HMG CoA lyase
15) TCA cycle - isocitrate dehydrogenase
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NEUROLOGY hy-
1)Broca's aphasia has impaired comprehension, repetition, naming, and speech output due to a left frontal lobe lesion; Wernicke's aphasia is fluent speech full of nonsense words and phrases, from a left temporal lobe lesion.
2)The most common cause of aphasia in adults is a stroke
3)The most important complications of subarachnoid hemorrhage are rebleeding, vasospastic ischemia, hydrocephalus, seizures, and syndrome of inappropriate antidiuretic hormone secretion (SIADH).
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4)The normal adult electroencephalogram (EEG), relaxed with eyes closed, is characterized by 9 - 11 cycles/sec activity in the back of the brain (occipital lobes), and called the alpha rhythm.
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5)Mad cow disease is a variant of Creutzfeldt-Jakob disease caused by a prion - a protein that does not require DNA or RNA to replicate and produce infection
6)The classic tetrad of narcolepsy is excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic hallucinations.
7)Gliomas are the most common primary brain tumors.
8)Astrocytomas are the most common spinal cord tumors.
9)Central pontine myelinolysis occurs primarily in patients suffering from malnutrition or alcoholism complicated by hyponatremia. Rapid correction of the hyponatremia has been implicated as a cause of the pathologic abnormality
10).The blood supply of the brain stem is derived from the vertebrobasilar system of the posterior circulation
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11)Ménière's disease presents with the symptomatic triad of episodic vertigo, tinnitus, and hearing loss. It is caused by an increased amount of endolymph in the scala media. Pathologically, hair cells degenerate in the macula and vestibule.
12)Sudden damage to the spinal cord can cause spinal shock, which results in temporary flaccid paralysis, hyporeflexia, sensory loss, and loss of bladder tone
13)Cauda equina syndrome is a neurosurgical emergency that presents with weakness and sensory loss in the lower extremities, prominent radicular pain, saddle anesthesia, and urinary incontinence
14)Lambert-Eaton myasthenic syndrome (LEMS) resembles myasthenia gravis with autonomic dysfunction and arises from an autoimmune attack on presynaptic voltage-gated calcium channels.
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15)Some of the most common and important neurologic diseases are caused by abnormalities in neurotransmitters: Alzheimer's (acetylcholine), epilepsy (γ-aminobutyric acid, GABA), Parkinson's (dopamine), migraine (serotonin)
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IMMUNO- 1) RA- DR4
2) IDDM- DR3/DR4
3) M. sclerosis- DR2
4)SLE- DR2/DR3
5)Celiac dis- DQ 2/ DQ8
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HY FACTS
Abciximab=antiplatelet,antagonist of IIb/IIIa receptors
Daclixumab=kidney transplant,block IL2 receptor
Infliximab=RA and crohns,bind TNF
Muromonab=Allograft rejection block in renal transplant
Palivizumab=RSV,block RSV protein
Rituximab=Non Hodgkin lymphoma,bind to surface prot
Trastuzumab=Breast ca,antagonist to Her2/neu receptor
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1.C-ANCAS?.... .wegeners granulomatosis
2.P-ANCAS?... .polyarteritis nodosa
3.ANAs?..SLE
4. Anti Scl-70 Ab?.... diffuse scleroderma
5.Anti Centromer?. .crest
6. Anti Mitocondrial?.......PBC
7.Anti Ribonucleoprotein Ab?. .sjogrens, and mixed ct.
8.Anti microsomal?..hashimotos
9.Anti Smith?..SLE
10. Anti single-strained DNA Ab?..mixed ct and sjogrens
11. Anti double-strained DNA Ab?..SLE
12.Anti Histone Ab?..drug induced lupus
13.Anti Neutrophil Ab?...vasculitis
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MICRO
1. which organism causes walking pneumonia? Mycoplasma pneumoniae
2.which organism have budding yeast with pseudohyphae? Candida
3. which organism has broad based budding budding? blastomycosis
4.which organism grows in preexisting cavity of lung, and branch at v shape angle? Aspergillus fumigatus
5. Foul smelling greenish discharge of vagina, caused by which organism? trichomonas
Vaginalis
6. brain abscess in HIV pos patients, birth defects, ring enhancing lesion caused by? Toxoplasma
7.Pneumonia in HIV patient caused by which organism? Pneumocystis carinii
GARDNERELLA VAGINALIS : Vaginosis- greenish vaginal discharge with fishy smell
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Rheumatic fever clincial criterias
major:
migratory polyartheritis
pancarditis
subcutaneous nodule
skin rash
sydenham chorea
minor:
fever
arthralgia
elevated acute phase reactants
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. Berger VS. Buerger........
Berger's disease(IgA nephropathy): renal disease, deposition of IgA.
Buerger's disease: vasculitis, other name is thrombangitis obliterans, intermittent claudication, gangrene
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Annular pancreas
The ventral pancreatic bud normally rotates around the duodenum to
fuse with the dorsal pancreatic bud. Both pancreatic buds form from evaginations from the
second part of the duodenum, hence the rotation is around the second part of the duodenum. The
normal rotation is around the right side of the embryonic duodenum. Annular pancreas results
from the ventral pancreatic bud dividing and rotating around both the right and left sides of
the second part of the duodenum, thus encircling
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mechanism of propylthiouracil?
Inhibition of organification and coupling reactions in thyroid hormone synthesis, AND decreases peripheral conversion of T4 to T3.
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