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

ABSTRACT

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.


Subject(s)
Adult , Cilia/epidemiology , Cilia/genetics , Dermoid Cyst , Eyelid Diseases/complications , Eyelid Diseases/genetics , Humans , Male , Mothers , Pedigree , Trichiasis
2.
Indian J Hum Genet ; 2012 Sept; 18(3): 373-375
Article in English | IMSEAR | ID: sea-145867

ABSTRACT

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 in English | IMSEAR | ID: sea-141043

ABSTRACT

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 in English | IMSEAR | ID: sea-92887

ABSTRACT

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).


Subject(s)
Adult , Aged , Cadmium/adverse effects , Cadmium Poisoning/blood , Female , Humans , Hypertension/blood , Male , Middle Aged , Risk Factors
6.
Article in English | IMSEAR | ID: sea-89311

ABSTRACT

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.


Subject(s)
Acute Disease , Adult , Aged , Aged, 80 and over , Cerebrovascular Disorders , Circadian Rhythm , Female , Humans , Male , Middle Aged , Time Factors
7.
Article in English | IMSEAR | ID: sea-90825

ABSTRACT

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.


Subject(s)
Adult , Brain/abnormalities , Brain Diseases/pathology , Cerebral Infarction/pathology , Cerebral Ventricles/pathology , Cysts/pathology , Epilepsy, Generalized/pathology , Female , Humans
9.
J Postgrad Med ; 1992 Jul-Sep; 38(3): 144-5
Article in English | IMSEAR | ID: sea-115743

ABSTRACT

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.


Subject(s)
Abducens Nerve , Adult , Cranial Nerve Diseases/etiology , Facial Paralysis/etiology , Female , Humans , Magnetic Resonance Imaging , Paralysis/etiology , Pseudotumor Cerebri/complications , Steroids/therapeutic use
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