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1.
Indian J Pediatr ; 2009 Feb; 76(2): 147-9
Article Dans Anglais | IMSEAR | ID: sea-79213

Résumé

OBJECTIVE: Mutation analysis in Indian children with achondroplasia. METHODS: We studied 11 sporadic cases of achondroplasia. Mutation analysis was done by PCR/RFLP (Polymerase chain reaction/Restriction fragment length polymorphism) method. RESULTS: Nine of the 11 cases had mutation G-->A at 1138 nucleotide position in transmembrane domain of fibroblast growth-factor receptor 3 (FGFR3) gene. Substitution G-->A is a common recurrent mutation reported worldwide. In two cases we could not detect any common mutation and also in entire region of transmembrane domain sequenced. There is possibility of mutation in the other regions of FGFR3 gene in these two cases. CONCLUSION: Further study of these two cases is needed in order to define other genotypes resulting in achondroplasia. Postnatal diagnosis of achondroplasia depends on clinical and radiological features. Mutation detection is mainly useful for prenatal diagnosis.


Sujets)
Achondroplasie/diagnostic , Achondroplasie/épidémiologie , Achondroplasie/génétique , Enfant , Analyse de mutations d'ADN , Humains , Inde/épidémiologie , Biologie moléculaire/méthodes , Mutation ponctuelle/génétique , Récepteur de type 3 des facteurs de croissance fibroblastique/génétique
2.
Article Dans Anglais | IMSEAR | ID: sea-114071

Résumé

The removal of toxic nickel metal ions by adsorption, using powder activated charcoal (PAC) and non-conventional adsorbent modified Indian powder babhul bark (PBB), was studied at room temperature. The adsorption isotherms were obtained in a batch reactor. It is observed that, the process of uptake followed first-order adsorption rate expression and obeyed Langmuir and Freundlich models of adsorption. Effects of variations in parameters such as pH, contact time, adsorbent dose, initial Ni(II) concentration and particle size were also studied.


Sujets)
Acacia , Adsorption , Charbon de bois/composition chimique , Concentration en ions d'hydrogène , Nickel/composition chimique , Taille de particule , Écorce/composition chimique , Polluants chimiques de l'eau/composition chimique , Purification de l'eau/méthodes
3.
Indian J Pediatr ; 2006 Apr; 73(4): 287-93
Article Dans Anglais | IMSEAR | ID: sea-80088

Résumé

OBJECTIVES: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. METHODS: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of internal genitalia. RESULTS: Out of nine cases 5 fetuses were male and 4 were female. Gestational age ranged from 14 to 34 weeks. Six cases were complete URSM sequence and 3 were partial URSM sequence. Associated anomalies of other systems were seen in 4 cases. In one case karyotype was 47, XXY. CONCLUSION: Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.


Sujets)
Malformations multiples/imagerie diagnostique , Canal anal/malformations , Issue fatale , Femelle , Humains , Mâle , Oligoamnios/étiologie , Examen physique , Grossesse , Syndrome , Échographie prénatale , Malformations urogénitales/imagerie diagnostique
4.
Indian Pediatr ; 2006 Feb; 43(2): 173-4
Article Dans Anglais | IMSEAR | ID: sea-14365
5.
Indian J Med Sci ; 2005 Oct; 59(10): 431-5
Article Dans Anglais | IMSEAR | ID: sea-67294

Résumé

CONTEXT: Nephrotic syndrome is one of the commonest renal problem encountered in children. It is difficult to predict at onset, the clinical course in terms of steroid responsiveness or resistance. Angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been studied as a predictor of clinical course in common multi-factorial diseases including focal segmental glomerulosclerosis. There is no study available from our country till date to find out any correlation of the steroid response in idiopathic nephrotic syndrome and ACE gene polymorphism. AIM: To study distribution and correlation of ACE gene I/D polymorphism in idiopathic steroid sensitive nephrotic syndrome. SETTINGS & DESIGN: Case-control retrospective study. SUBJECTS & METHODS: We studied ACE gene polymorphism in 90 consecutive patients (82% males, 18% females) with steroid sensitive idiopathic nephrotic syndrome and 300 normal controls (NC). STATISTICAL ANALYSIS: Chi-square test and Fisher's exact test (for cases with insufficient expected cell frequencies). RESULTS: The mean age of onset was 5.3 +/- 4 years. Steroid sensitive (SS) patients showed II (SS-48%, NC-26%) genotype was more frequent than normal controls (p=0.002). There was no significant difference in genotype frequencies among steroid SS subgroups. CONCLUSIONS: In our study II genotype was more frequent in steroid sensitive nephrotic syndrome children in comparison to normal controls. Further functional studies with large number of children are required to investigate the role of II genotype in steroid sensitive nephrotic syndrome. Comparison of the genotypic frequency with steroid resistant patients may provide information, which might be useful in clinical practice.


Sujets)
Enfant d'âge préscolaire , ADN/génétique , Femelle , Études de suivi , Fréquence d'allèle , Génotype , Glucocorticoïdes/usage thérapeutique , Humains , Inde/épidémiologie , Mâle , Syndrome néphrotique/traitement médicamenteux , Peptidyl-Dipeptidase A/sang , Réaction de polymérisation en chaîne , Polymorphisme génétique , Prévalence , Études rétrospectives
6.
Indian J Pediatr ; 2004 Dec; 71(12): 1079-82
Article Dans Anglais | IMSEAR | ID: sea-82360

Résumé

OBJECTIVE: To assess the impact of genetic counseling in Indian milieu. METHODS: A study of 83 Indian consultants who were provided genetic counseling was carried out to understand their expectations, satisfaction with genetic counseling and its effects on reproductive decision. RESULTS: Most of the families were referred for the diagnosis and the treatment of the disorder in the proband. The consultants understood the medical facts about risk of recurrence and were satisfied with genetic counseling. There was no change in reproductive plan after genetic counseling in most of the cases. CONCLUSION: The reproductive decision was mainly correlating with the presence or absence of normal live children in the family and availability of prenatal diagnosis.


Sujets)
Conseil génétique/psychologie , Humains , Inde , Études prospectives , Comportement procréatif
7.
Indian Pediatr ; 2004 Jun; 41(6): 614-7
Article Dans Anglais | IMSEAR | ID: sea-10954

Résumé

We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Genetic counselling of the family for reproductive risks and testing siblings of the mother for detection of balanced carriers is essential.


Sujets)
Malformations multiples/diagnostic , Chromosomes humains de la paire 13/génétique , Humains , Nourrisson , Mâle , Déficience intellectuelle/génétique , Polydactylie/génétique , Syndrome , Trisomie/diagnostic
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