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1.
Indian Pediatr ; 2019 Sep; 56(9): 789-791
Artigo | IMSEAR | ID: sea-199390

RESUMO

Background: Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder causedby failure of expression of paternally inherited genes in the PWS region of chromosome 15.Case characteristics: Two siblings who both met the inclusion criteria for clinical diagnosisof PWS during neonatal period. Outcome: Molecular genetic analysis demonstrated a 417-kb microdeletion within the 15q11.2 region inherited from siblings’ paternal grandmother,involving key genes of PWS, except for UBE3A, which may explain why their father andpaternal grandmother had a normal phenotype. Conclusion: The findings may be helpfulfor better understanding of the underlying mechanism of this rare imprinting defect

2.
Indian J Pediatr ; 2009 Sept; 76(9): 959-962
Artigo em Inglês | IMSEAR | ID: sea-142382

RESUMO

To investigate the clinical features of Kikuchi-Fujimoto disease (KFD) and the relationship between viral infection and this disease in children will be better as Kikuchi-Fujimoto disease (KFD) is a lymphadenopathy. The aim of study is to investigate the clinical features of KFD and the relationship. The age, gender, clinical features and aetiopathogenesis of 36 Chinese children with FKD were reviewed, and the viral antigens were detected. Mean age was 10.1 ± 2.8 yr with a male to female ratio of 1.8:1. Fever and lymphadenopathy were the most common complaints, noted in 23 and all cases respectively. Skin rash and hepatosplenomegaly were also noted. Leukopenia, anemia, thrombocytopenia and raised ESR were noted in 21, 6, 4 and 31 cases respectively. Epstein-Barr virus (EBV) IgM and IgG was positive in 1 and 24 of 29 cases respectively. Antigens of EBV and herpes simplex virus 2 (HSV 2) were found in the biopsy tissue section from 2 and 1 case respectively. Autoantibodies were noted in 3 of 15 cases. Steroid hormones were administrated for 19 cases with good efficacy. These results imply that children with lymphadenopathy and/or fever may have KFD and thus excisional biopsy of lymph nodes should be performed earlier on. A hyperimmune reaction of immune cells to EBV and HSV2 may play a role in the pathology of KFD.


Assuntos
Adolescente , Corticosteroides/uso terapêutico , Biópsia , Criança , Pré-Escolar , China/epidemiologia , Diagnóstico Diferencial , Feminino , Linfadenite Histiocítica Necrosante/diagnóstico , Linfadenite Histiocítica Necrosante/tratamento farmacológico , Linfadenite Histiocítica Necrosante/epidemiologia , Linfadenite Histiocítica Necrosante/imunologia , Humanos , Lactente , Masculino
3.
Indian Pediatr ; 2007 Apr; 44(4): 275-9
Artigo em Inglês | IMSEAR | ID: sea-8265

RESUMO

OBJECTIVE: The aim is to study the relationship between insulin resistance and serum adiponectin and resistin in obese children. METHODS: A total 113 obese and 37 nonobese children were enrolled and serum adiponectin and resistin were measured. RESULTS: Compared with controls, higher insulin resistance by homeostasis model (HOMA-IR) and lower whole body insulin resistance index (WBISI)were found in obese children (all P <0.05). The adiponectin levels in obese children and controls were 3.63 and 5.79 microg/L with a significant difference (P<0.001) while the difference of resistin levels was not significant (P = 0.948). Significant correlations between insulin resistance parameter and age,sexual development, BMI, serum triglyceride, ApoB, LDL-cholesterol, HDL-cholesterol, alanine aminotransferase, uric acid, or adiponectin levels (all P <0.05) were noted. Stepwise multiple regression analysis showed that BMI and adiponectin levels were independent determinants of WBISI. CONCLUSIONS: These results suggest that adiponectin may play a protective role in obese children through decreasing insulin resistance.


Assuntos
Adiponectina/sangue , Adolescente , Estudos de Casos e Controles , Criança , China/epidemiologia , Feminino , Humanos , Resistência à Insulina , Masculino , Obesidade/epidemiologia , Resistina/sangue , Fatores de Risco
4.
Indian Pediatr ; 2005 Apr; 42(4): 379-82
Artigo em Inglês | IMSEAR | ID: sea-11906

RESUMO

An 8-year-old boy was admitted because of recurrent fever for 1 month with increased CRP and ESR. Ultrasound reviewed multiple, small, hypo-echoic, rounded and wedge-shaped nodules with diffuse blood flow in spleen and enlarged abdominal lymph nodes. The spleen was enlarged and no echoic space was found in the largest lesion on 5th day. After a positive mycoplasma pneumoniae (MP) IgM was reported on 6th day, azithromycin was used intravenously. The temperature returned to normal and CRP and ESR improved in a short period. The lesions and lymphadenopathy disappeared and MP IgM antibody became negative 6 months later.


Assuntos
Antibacterianos/uso terapêutico , Azitromicina/uso terapêutico , Sedimentação Sanguínea , Proteína C-Reativa/análise , Criança , Hiperplasia Nodular Focal do Fígado/patologia , Humanos , Imunoglobulina M/análise , Masculino , Pneumonia por Mycoplasma/sangue , Baço/patologia , Esplenopatias/patologia , Tomografia Computadorizada por Raios X
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