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Background: Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder caused by 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 diagnosis of 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 and paternal grandmother had a normal phenotype. Conclusion: The findings may be helpful for better understanding of the underlying mechanism of this rare imprinting defect. [ABSTRACT FROM AUTHOR]

Background: Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder caused by 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 diagnosis of 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 and paternal grandmother had a normal phenotype., Conclusion: The findings may be helpful for better understanding of the underlying mechanism of this rare imprinting defect.

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.

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.