Adult ; Aged ; Aged, 80 and over ; Granuloma ; drug therapy ; Humans ; Laryngeal Diseases ; drug therapy ; Male ; Middle Aged

Objective To investigate the changes of calcium /calmodulin - dependent protein kinase Ⅱ (CAMKⅡD) gene expression in 3T3 - L1 preadipocyte diffe-rentiation and TNF - ? regulation of CAMKⅡD gene expression on matured adipocytes. Methods 3T3 - L1 preadipocytes were cultured and differentiated into adipocytes. The levels of CAMKⅡD gene mRNA expression at various times were evaluated by RT-PCR. Matured adipocytes were interfered with 0.1,1.0,10.0 ?g/L TNF - ? and the levels of CAMKⅡD gene mRNA expression were evaluated. Results The levels of CAMKⅡD gene mRNA expression in 3T3 - L1 adipocytes were significantly down- regulated at first day, compared with those at zero day (P0. 05). CAMKⅡD gene mRNA expression decreased significantly at 12 hours after treatment with 10.0 ?g/L TNF-?, treatment of matured adipocytes with TNF - ? did not have any regulation role on it. Conclusions CAMKⅡD gene is involved in the differentiation of adipocytes and related to the etiology of obesity. The changes in the level of CAMKⅡD gene mRNA expression during 3T3 - L1 preadipocyte differentiation may contribute to the differentiation and adipogenesis of adipocytes. It seems that TNF - ? does not have any regulation role on the expression of CAMKⅡD genes.

Objective To observe the long-term results of midline partial glossectomy with uvulopalatopharyngoplasty (UPPP) in the treatment of obstructive sleep apnea hypopnea syndrome (OSAHS). Methods Twenty-four severe OSAHS patients treated with midline partial glossectomy and UPPP from January 2003 to March 2004 were included in this study, the follow-up was 5 years. The median of preoperative lowest arterial oxygen saturation ( LSaO2) of this group at night (the same below) 0. 650, and AHI was 56. 5 times/h, UPPP was performed under general anesthesia, no tracheotomy performed. Criteria of curative effects; AHI <5 times/h was recovery, AHI <20 times/h and decreased beyond 50% marked improvement, only AHI decreased beyond 50% improvement. Results Post-operation AHI (6 months, 1 year, 2 years and 5 years after surgery) decreased significantly compared to that before the surgery, and post-operation LSaO2 was significantly higher than that of preoperative (Wilcoxon's signed rank test, the same below, P <0.01). The LSaO2 and AHI were significantly different between 1 year, 2 years, 5 years and 6 months post-operatively (P <0. 01). Six months after surgery, PSG results showed that 21 were recovery, marked improvement for the other 3 cases, the recovery rate was 87. 5%. One year after surgery, 18 were recovery, marked improvement in 3 cases, the recovery rate 75. 0%. Two years after surgery, 14 cases recovery, marked improvement in 4 cases, the recovery rate 58. 3%. Five years after surgery, 6 were recovery, the recovery rate 25. 0%. Among 5 cases with hypertension before the surgery, after surgery antihypertensive drugs were not necessary in 4 cases, and the dosage was decreased in 1 case. Conclusion The midline partial glossectomy with UPPP surgery may be an effective treatment for the severe OSAHS, long-term effect is satisfactory.

OBJECTIVETo identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families.

METHODSThe 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing.

RESULTSTwo RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense mutation (c.626G>A, p.Arg209His).

CONCLUSIONTwo RS1 mutations have been identified, among which Pro192fs mutation is discovered for the first time in Chinese population. Above results may enrich our understanding of the clinical manifestations of XLRS and facilitated early diagnosis and genetic counseling for the disease.

Adolescent ; Adult ; Eye Proteins ; genetics ; Female ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Prenatal Diagnosis ; Retinoschisis ; diagnosis ; genetics