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1.
Indian J Hum Genet ; 2011 Jan; 17(1): 22-25
Article in English | IMSEAR | ID: sea-138927

ABSTRACT

We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.


Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/etiology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/surgery , Child , Family , Humans , Male , Malignant Hyperthermia/diagnosis , Malignant Hyperthermia/epidemiology , Malignant Hyperthermia/etiology , Malignant Hyperthermia/genetics , Malignant Hyperthermia/surgery , Siblings , Skin Abnormalities/diagnosis , Skin Abnormalities/epidemiology , Skin Abnormalities/genetics , Skin Abnormalities/surgery , Young Adult
2.
Article in English | IMSEAR | ID: sea-91625

ABSTRACT

A case of alkyl succinate poisoning is being reported. Oral ingestion of this compound led to gastrointestinal tract involvement and central nervous system manifestatations suggestive of parkinsonism. The patient recovered completely following conservative management without any sequelae.


Subject(s)
Diarrhea/chemically induced , Female , Humans , Middle Aged , Parkinson Disease, Secondary/chemically induced , Pesticides/adverse effects , Succinates/adverse effects , Vomiting/chemically induced
3.
Article in English | IMSEAR | ID: sea-88807

ABSTRACT

AIMS: 1. To study the clinical features in patients with Cleistanthus collinus poisoning, 2.To study in them the effect of Cleistanthus collinus poisoning on the various organ systems and metabolic parameters using standard laboratory investigations. METHODS: All patients admitted to the hospital between September 1998 and April 2000 were studied. Statistical analysis of the results was done using chi-square test, Fisher's exact test and Student's 't' test. RESULTS: Forty six cases were studied, 15 (32%) of whom died. Eighty percent of the patients were in the second to third decade. The female:male ratio was 3:2. Ingestion of the poison as a decoction prepared from the leaves and ingestion of a large number of leaves otherwise were associated with a poor outcome. While survivors remained relatively asymptomatic, fatally poisoned patients presented with significant clinical signs and symptoms, however, laboratory abnormalities such as hypokalaemia, hyponatremia, an elevated AST/LDH/CPK/CPK-MB, nonspecific ST-T changes and QTc prolongation on ECG, metabolic acidosis and hypoxia with widened alveolar-arterial oxygen difference (A-aDO2) were seen in both groups. CONCLUSION: It is a poisoning seen in the young with significant mortality. Cause of death appears to be mainly due to its cardiac and respiratory effects. Metabolic disturbances especially hypokalaemia was a prominent feature. Most deaths occurred on the 3rd day and all within a week. No specific antidote is available.


Subject(s)
Adolescent , Adult , Aged , Female , Glycosides/poisoning , Humans , India/epidemiology , Lignans/poisoning , Male , Middle Aged , Naphthalenes/poisoning , Plant Extracts/poisoning , Poisoning/mortality , Survival Analysis , Toxins, Biological/poisoning
4.
Article in English | IMSEAR | ID: sea-94124

ABSTRACT

A thirty two years man, heterosexually promiscuous presented with amoebic liver abscess, proven by ultrasonography, aspiration and culture of organism. He was human immunodeficiency virus (HIV) seropositive and had low CD4+ lymphocyte count. He responded to anti-amoebic treatment.


Subject(s)
Adult , HIV Infections/complications , Humans , Liver Abscess, Amebic/diagnosis , Male
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