Sujets)
Malformations multiples/génétique , Malformations multiples/imagerie diagnostique , Adulte , Maladies du collagène/génétique , Maladies du collagène/imagerie diagnostique , Consanguinité , Luxations/génétique , Luxations/imagerie diagnostique , Os de la face/malformations , Femelle , Humains , Inde , Grossesse , Syndrome , Échographie prénataleRésumé
OBJECTIVE: The objectives of the study was to know whether the 'thinfat' phenotype exists in newborns, in Central Karnataka and to correlate various factors that contribute to this peculiar phenotype, with emphasis on genetic and maternal environmental factors. METHODS: For 1000 consecutive singleton term newborns, weight, length, head, mid arm, abdominal circumferences, biceps and subscapular skinfolds were measured at birth and compared with measurements of white Caucasian babies born in Southampton UK and Mysore babies at birth. RESULTS: The Davangere babies were significantly smaller in all measurements at birth (p < 0.001) compared to Southampton babies. The deficit varied according to the measurements; It was greatest for birth weight (-1.6 SD, CI -3.0, -0.2), mid arm circumference (-2.0 SD, CI -3.3, -0.8), head circumference (-1.8 SD, CI -3.1, -0.5) and least for length (-0.4 SD, CI -1.9, 1.1) and subscapular skin fold (-0.3 SD, CI -0.25, -0.12). Predictors of skinfold thickness were maternal body mass index (p < 0.05), maternal mid arm circumference (p < 0.001) and consanguinity (p < 0.05). CONCLUSION: Despite being small, truncal adiposity was present in Davangere neonates confirming the 'thinfat' phenotype. The role of consanguinity in other words, the role of genes, is important in determining this 'thinfat' phenotype in newborns.
Sujets)
Anthropométrie , Poids de naissance , Indice de masse corporelle , Humains , Nouveau-né , Âge maternel , Phénotype , Épaisseur du pli cutané , Jeune adulteRésumé
Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.
Sujets)
Adulte , Relation dose-effet des médicaments , Calendrier d'administration des médicaments , Études de suivi , Humains , Syndrome de Kallmann/diagnostic , Mâle , Indice de gravité de la maladie , Testostérone/usage thérapeutiqueRésumé
OBJECTIVE: To determine the baseline Widal titres in apparently healthy children in Davangere. METHODS: Cross-sectional study was done on 250 children. Widal titers were found using tube agglutination test. RESULTS: Out of 250,64.2% had a titre of less than 1:20,22.4% had a titre equal to 1:20,9.6% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'O' antigen and 67.2% had a titre of less than 1:20, 21.2% had a titre equal to 1:20, 8% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'H' antigen of S. enterica subsp. enterica ser. Typhi. No children in age group 6 months-2 years had a titre of 1:80 to either antigen. All children in this age group had a titre of less than 1:20 to AH antigen and older children had a titre upto 1:40 dilution. CONCLUSION: Baseline titres for either S. enterica subsp. enterica ser. Typhi antigen in 6 month-2 year was 1:40 and older children was 1:80. Baseline titres for H antigen of S. enterica subsp. enterica ser. Paratyphi A in 6 month-2 year was less than 1:20 and for older children was 1:40 dilution.
Sujets)
Facteurs âges , Agglutination , Tests d'agglutination , Enfant d'âge préscolaire , Études transversales , Maladies endémiques , Femelle , Humains , Incidence , Inde/épidémiologie , Nourrisson , Mâle , Fièvre paratyphoïde/épidémiologie , Valeurs de référence , Facteurs de risque , Salmonella paratyphi A/immunologie , Salmonella typhi/immunologie , Indice de gravité de la maladie , Fièvre typhoïde/épidémiologieRésumé
Wharton's jelly is a specialized tissue which acts as supportive and protective structure substituting for the adventitia of the umbilical vessels. Absence of Wharton's jelly around the umbilical arteries is very rare and an unusual cause of perinatal mortality. We report a case of absent Wharton's jelly around the umbilical arteries with patent vitellointestinal duct--a rare association.