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1.
Indian J Hum Genet ; 2014 Apr-Jun ; 20 (2): 185-186
Article Dans Anglais | IMSEAR | ID: sea-156657

Résumé

We present a case of ectopia cilia in a 28‑year‑old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient’s maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient’s mother. Ectopia cilia is a rare condition seen in humans. Only 12 cases of ectopic cilia in humans have been reported so far in the world. The present case of ectopia cilia is the second case report in the world with pedigree analysis.


Sujets)
Adulte , Cils vibratiles/épidémiologie , Cils vibratiles/génétique , Kyste dermoïde , Maladies de la paupière/complications , Maladies de la paupière/génétique , Humains , Mâle , Mères , Pedigree , Trichiasis
2.
Indian J Hum Genet ; 2012 Sept; 18(3): 373-375
Article Dans Anglais | IMSEAR | ID: sea-145867

Résumé

We present a case of seven nipples in a 32-year-old male patient. The patient had two regular nipples along with five supernumerary nipples. Usually, supernumerary nipples develop along the two vertical "milk lines" which start in the arm pit on each side, run down through the typical nipples, and end at the groin. Our patient had six nipples which confirm to the "milk lines" and one nipple which was above the umbilicus in the midline and did not confirm to the "milk lines." To our knowledge, this is the second case report with seven nipples in the world.

3.
Indian J Dermatol Venereol Leprol ; 2012 Mar-Apr; 78(2): 182-185
Article Dans Anglais | IMSEAR | ID: sea-141043

Résumé

Familial atrophia maculosa varioliformis cutis is a very rare disorder with less than 28 cases being reported in the literature worldwide and remains a mystery both as far as genetics and the virtue of its pathogenesis is concerned. We present a case of mother and son, both having this disorder with presentations unique in terms of sites involved and try to draw a five generations pedigree chart for the same. We further support its inheritance pattern as autosomal dominant. Also, we propose oral isotretinoin as an effective treatment modality for the same.

4.
Article Dans Anglais | IMSEAR | ID: sea-92887

Résumé

Hypertension is a very common and important disease of modern civilised life. There are comflicting reports about cadmium, a trace element in the genesis of essential hypertension. The present study was conducted to estimate the cadmium levels in whole blood in the normal group of thirty subjects who were normotensive and the same was compared to that of thirty hypertensive patients and the levels were found to be statistically significant (p < 0.05).


Sujets)
Adulte , Sujet âgé , Cadmium/effets indésirables , Intoxication au cadmium/sang , Femelle , Humains , Hypertension artérielle/sang , Mâle , Adulte d'âge moyen , Facteurs de risque
6.
Article Dans Anglais | IMSEAR | ID: sea-89311

Résumé

Ischemic events have been reported to follow a circadian rhythm. The frequency of myocardial infarction is found to be increased between 6:01 a.m. and 2:00 p.m. Blood pressure also demonstrates a similar circadian variation. Circadian variation of stroke onset has also been reported, but with contradictory findings. To determine this in the Indian population, we studied 182 consecutive patients of acute stroke admitted to our words within twelve hours of onset. The frequency of onset of stroke was found to be highest between 6:01 am and 2:00 pm, in patients of infarct as well as haemorrhage. Patients of hypertension also showed a similar variation. Thus, the identification of periods of high risk, may help by matching drug doses with periods of vulnerability.


Sujets)
Maladie aigüe , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Angiopathies intracrâniennes , Rythme circadien , Femelle , Humains , Mâle , Adulte d'âge moyen , Facteurs temps
7.
Article Dans Anglais | IMSEAR | ID: sea-90825

Résumé

Porencephalic cyst with seizure is rare. It represents a part of diffuse cerebral maldevelopment. Porencephaly occurs as a result of imbalance between brain growth and its vascular supply and is picked up by CT scan.


Sujets)
Adulte , Encéphale/malformations , Encéphalopathies/anatomopathologie , Infarctus cérébral/anatomopathologie , Ventricules cérébraux/anatomopathologie , Kystes/anatomopathologie , Épilepsie généralisée/anatomopathologie , Femelle , Humains
9.
J Postgrad Med ; 1992 Jul-Sep; 38(3): 144-5
Article Dans Anglais | IMSEAR | ID: sea-115743

Résumé

A woman with history of bifrontal headache, vomiting and loss of vision was diagnosed as a case of pseudotumor cerebri based on clinical and MRI findings. Bilateral abducens and facial nerve palsies were detected. Pseudotumor cerebri in this patient was not associated with any other illness or related to drug therapy. Treatment was given to lower the raised intracranial pressure to which the patient responded.


Sujets)
Nerf abducens , Adulte , Atteintes des nerfs crâniens/étiologie , Paralysie faciale/étiologie , Femelle , Humains , Imagerie par résonance magnétique , Paralysie/étiologie , Syndrome d'hypertension intracrânienne bénigne/complications , Stéroïdes/usage thérapeutique
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