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1.
Bone ; 116: 321-332, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30077757

RESUMO

Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homozygous loss-of-function mutations within the gene SOST that encodes the inhibitor of Wnt-mediated bone formation, sclerostin. SOST2 is transmitted as an autosomal dominant (AD) or AR trait and to date caused by one heterozygous or two homozygous loss-of-function mutation(s), respectively, within the gene LRP4 that encodes the sclerostin interaction protein, low-density lipoprotein receptor-related protein 4 (LRP4). Herein, we investigated two teenagers and one middle-aged man with SOST in three families living in the state of Tamil Nadu in southern India. Next generation sequencing of their genomic DNA using our high bone density gene panel revealed SOST1 in the teenagers caused by a unique homozygous nonsense SOST mutation (c.129C > G, p.Tyr43X) and SOST2 in the man caused by homozygosity for one of the two known homozygous missense LRP4 mutations (c.3508C > T, p.Arg1170Trp). He becomes the fourth individual and the first non-European recognized with SOST2. His clinical course was milder than the life-threatening SOST1 demonstrated by the teenagers who suffered blindness, deafness, and raised intracranial pressure, yet his congenital syndactyly was more striking by featuring bony fusion of digits. All three patients were from consanguineous families and heterozygosity for the SOST mutation was documented in the mothers of both teenagers. Thus, on the endogamous genetic background of Indian Tamils, SOST1 from sclerostin deficiency compared to SOST2 from LRP4 deactivation is a more severe and life-threatening disorder featuring complications due to osteosclerosis of especially the skull. In contrast, the syndactyly of SOST2 is particularly striking by involving bony fusion of some digits. Both the SOST and LRP4 mutations in this ethnic population likely reflect genetic founders.


Assuntos
Hiperostose/patologia , Sindactilia/patologia , Adolescente , Sequência de Bases , Proteínas Morfogenéticas Ósseas/genética , Osso e Ossos/metabolismo , Análise Mutacional de DNA , Família , Feminino , Marcadores Genéticos/genética , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/genética , Índia , Proteínas Relacionadas a Receptor de LDL/genética , Masculino , Pessoa de Meia-Idade , Minerais/metabolismo , Linhagem , Sindactilia/diagnóstico por imagem , Sindactilia/genética
3.
Indian Pediatr ; 43(8): 724-7, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16951437

RESUMO

The study was conducted to identify the problems related to feeding of children post tsunami in four villages in Pondicherry. Data were collected from 100 randomly chosen families who had an infant or a young child below 3 years of age during Tsunami. Informants were the mothers. In the population studied, 30% mothers did not exclusively breast feed for 6 months; 58% bottle fed their children and 51% fed their infants with commercial formula. The occurrence of diarrhea was three times higher among children who were fed with free breast milk substitutes (BMS) than in those who were not fed with the same. Those populations, wherein a pre-existing tradition of artificial feeding is present, infants are at further risk during a crisis situation like Tsunami. Breast feeding practices need strengthening even in routine conditions to tackle a disaster rather than intervention after the disaster.


Assuntos
Aleitamento Materno/estatística & dados numéricos , Diarreia/epidemiologia , Desastres , Fórmulas Infantis/estatística & dados numéricos , Fenômenos Fisiológicos da Nutrição do Lactente , População Rural , Fatores Etários , Altruísmo , Pré-Escolar , Feminino , Inquéritos Epidemiológicos , Humanos , Índia/epidemiologia , Lactente , Recém-Nascido , Entrevistas como Assunto , Masculino , Medição de Risco , Inquéritos e Questionários , Fatores de Tempo
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