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1.
Kaohsiung J Med Sci ; 25(12): 656-62, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19951851

RESUMO

The aim of this study was to determine the clinical profile and etiology of diabetes mellitus (DM) with onset at < 6 months of age. All children aged < 6 months diagnosed with DM at a tertiary referral center between 2005 and 2008 were included in the study. Three cases of DM with onset at < 6 months of age were identified. All patients were female and of the same ethnic origin, with nonconsanguineous parents. Intrauterine growth retardation was noted in all three patients, and diabetic ketoacidosis and hypertriglyceridemia in two of the three. Blood samples from all three patients and their parents were analyzed for mutations in the KCNJ11 gene (inwardly-rectifying potassium channel, subfamily J, member 11 gene; OMIM 600937). A heterozygous de novo mutation in the KCNJ11 gene was detected in one patient, which confirmed the diagnosis of permanent neonatal DM. Neither C-peptide secretion nor circulating islet cell antibodies were detected in any patient during diagnosis, but C-peptide elevation was detected in the patient with permanent neonatal DM after treatment with sulfonylurea. One infant had clinical and immunological evidence of congenital cytomegalovirus infection while the diabetes in another case was postulated to be syndromic. DM within the first 6 months of life is a rare condition with various etiologies. The high prevalence of Kir6.2 mutations in neonatal diabetes means that all children < 6 months of age diagnosed with diabetes should be tested for Kir6.2 mutations at diagnosis.


Assuntos
Idade de Início , Diabetes Mellitus/etiologia , Diabetes Mellitus/genética , Diabetes Mellitus/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética
2.
Indian J Pediatr ; 76(2): 151-5, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19330303

RESUMO

OBJECTIVE: To define the clinical manifestations of Chikungunya infection in infants. METHODS: The inclusion criteria was fever (defined as axillary temperature > 99.6 degrees F) with any one of the following features; seizure, loose stools, peripheral cyanosis, skin manifestations or pedal edema in children less than one year. Details of disease from onset of illness till admission were noted and a thorough clinical examination was done at the time of admission. Daily follow-up was performed and the serial order of appearance of clinical features was noted till complete recovery. The sera collected from patients after the 7th day of onset of fever was analyzed for specific chikungunya antibody by IgM antibody capture enzyme linked immunosorbent assay (ELISA). RESULTS: Fifty six (56) infants were laboratory confirmed for chikungunya, consisting of 34 (60.71%) males and 22 (39.29%) females. 4 (7.14%) infants were less than 1 month of age, 39 (69.64%) 2-6 months old and 13 (23.21%) 7-12 months old. Fever was invariably present, but associated constitutional symptoms in infants consisted of lethargy or irritability and excessive cry. The most characteristic feature of the infection in infants was acrocyanosis and symmetrical superficial vesicobullous lesions were noted in most infants. Erythematous asymmetrical macules and patches were observed which later progressed to morbiliform rashes. The face and oral cavity was spared in all observed patients. CONCLUSION: An entirely different spectrum of disease is seen in infants with chikungunya as compared to older children who need to be carefully observed for. The morbidity and mortality of the disease may be avoided by the rational use of drugs and close monitoring of all infants.


Assuntos
Infecções por Alphavirus/virologia , Vírus Chikungunya/isolamento & purificação , Infecções por Alphavirus/diagnóstico , Infecções por Alphavirus/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoglobulina M , Lactente , Recém-Nascido , Masculino , Dermatopatias/diagnóstico , Dermatopatias/imunologia , Dermatopatias/virologia
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