RESUMO
Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or sister-chromatid exchange. Most autosomal isochromosomes are unusual, while those involving sex chromosomes are common. Kabuki syndrome (KS, OMIM 147920) is a multiple malformation/mental retardation syndrome of unknown etiology. A conventional cytogenetic study on lymphocytes from a 4-year-old girl with physical features suggestive of KS was found to have mosaicism for isochromosome for the long arm of the X. Although most manifestations present in this patient have been described before, this report is a rare association of clinical and cytogenetic findings in this syndrome. A genome-wide analysis and a larger number of patient groups studied could improve our understanding of the genetic basis of KS.
Assuntos
Anormalidades Múltiplas/genética , Pré-Escolar , Citogenética , Face/anormalidades , Doenças Hematológicas/genética , Feminino , Humanos , Cromossomos Sexuais/genética , Doenças Vestibulares/genética , Cromossomo X/anormalidades , Cromossomo X/genéticaRESUMO
Mean kidney length in 230 Indian children without apparent renal disease were examined sonographically and correlated with, age, body weight, length / height, upper thigh (femur) length, head circumference and chest circumference. Mean kidney is length best correlated with height, followed by upper thigh (femur) length and chest circumference.
Assuntos
Adolescente , Fatores Etários , Estatura , Peso Corporal , Cefalometria , Criança , Pré-Escolar , Feminino , Fêmur/anatomia & histologia , Humanos , Índia , Lactente , Recém-Nascido , Rim/anatomia & histologia , Rim/diagnóstico por imagem , Masculino , Estudos Prospectivos , Tórax/anatomia & histologiaRESUMO
OBJECTIVE: To evaluate immunogenicity and tolerability of single dose live attenuated injectable hepatitis A vaccine in four metropolitan cities of India. METHODS: Live attenuated hepatitis A vaccine was administered to 505 children aged 18 to 60 months in four centers across India. Immunogenicity of the vaccine was assessed by estimation of anti-HAV antibody titer at 6 weeks and 6 months following administration of the vaccine. Safety evaluation of the vaccine was also done during the visits. RESULTS: At 6 weeks, 480 subjects (95%) came for the follow-up and 411 (81.4%) subjects reported at the end of 6 months. The geometric mean titer (GMT) of anti-HAV antibody of the subjects who did not have the seroprotective titer at the baseline were assessed at 6 weeks and 6 months which was 81.04 mIU/ml and 150.66 mIU/ml respectively. At 6 weeks, 95.1 % seroconverted and at the end of 6 months, 97.9 % had seroconverted. Both solicited and unsolicited vaccine-induced local and systemic adverse events were insignificant at all the centers, except swelling and induration in a few. CONCLUSION: Live attenuated injectable hepatitis A vaccine was immunogenic and tolerable with minimal reactogenecity, in this study of single dose schedule. Safety profile was also satisfactory in the study population.