Study on female sexual dysfunction in type 2 diabetic Chinese women / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate the female sexual dysfunction (FSD) in type 2 diabetes patients, by comparing the sexual function between type 2 diabetic women and non-diabetic women with Female Sexual Function Index (FSFI).</p><p><b>METHODS</b>115 type 2 diabetic women and 107 age-matched non-diabetes women were enrolled with similar backgrounds. Their sexual functions were evaluated with FSFI. Metabolic parameters such as body mass index, blood lipid profile, hemoglobin A1C, plasma glucose were also collected.</p><p><b>RESULTS</b>Total score of FSFI of the type 2 diabetic women were significantly lower than that of the non-diabetic controls (18.27±8.96 vs. 23.02±5.78, P=0.000). Scores of the FSFI domains (desire, arousal, lubrication, orgasm, satisfaction, pain) of the type 2 diabetic group were also lower than those of the control group. According to the FSD criterion (FSFI<25) available in China, the percentage of FSD in the type 2 diabetic group was significantly higher than that of the control group (79.2%vs. 55.0%, P<0.001). These trends seemed more prominent in pre-menopause subgroups. The logistic regression analysis indicated that age and diabetes were independent risk factors of FSD. Body Mass Index (BMI) also had influence in the diabetes group.</p><p><b>CONCLUSION</b>Findings from this study showed that there are more FDS in Chinese type 2 diabetic women than in their non-diabetic counterparts, especially in pre-menopause participants.</p>

Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>Prader-Willi Sydrome (PWS) is a human disorder related to genomic imprinting defect on 15q11-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis, hypogonadism, mental and behaviour disorders. Our study was designed to precisely detect the microdeletions, which accounts for 65%-70% of the PWS.</p><p><b>METHODS</b>Physical and laboratory examinations were firstly performed to diagnose PWS clinically, and to discover novel clinical features. Then the patient was screened with bisulfite-specific sequencing and precisely delineated through high-density array CGH.</p><p><b>RESULTS</b>With the bisulfite-specific sequencing, the detected CpG island in the PWS critical region was found homozygously hypermethylated. Then with array CGH, a 2.22 Mb type II microdeletion was detected, covering a region from MKRN3, MAGEL2, NDN, PWRN2, PWRN1, C12orf2, SNURF-SNRPN, C/D snoRNAs, to distal of UBE3A.</p><p><b>CONCLUSIONS</b>Array CGH, after the fast screening of Bisulfite-specific sequencing, is a feasible and precise method to detect microdeletions in PWS patients. A novel feature of metacarpophalangeal joint rigidity was also presented, which is the first time reported in PWS.</p>

Intracellular retention of human melanocortin-4 receptor: a molecular mechanism underlying early-onset obesity in F261S pedigree of Chinese / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate how F261S mutation identified from Chinese obese patients affects the function of melanocortin 4 receptor (MC4R) and to analyze the obesity-related phenotypes in subjects carrying the F261S mutation.</p><p><b>METHODS</b>F261S mutant of MC4R was generated by site-directed mutagenesis. Plasmids encoding wild-type or F261S mutant of MC4R were transfected into HEK293 and COS-7 cells to examine their functional characteristics. Signaling properties of F261S MC4R were assessed by measuring intracellular cAMP levels in response to alpha-MSH stimulation. Cell surface expression of F261S MC4R was compared with that of wild-type MC4R. Clinical examinations were performed in subjects carrying F261S mutation and in non-mutated controls.</p><p><b>RESULTS</b>The alpha-MSH-stimulated reporter gene activity was significantly reduced in cells expressing F261S MC4R, with a maximal response equal to 57% of wild-type MC4R. The F261S mutation also led to a significant change in the Es50 value compared with the wild-type receptor (P<0.01). Immunofluorescent assay revealed a marked reduction in plasma membrane localization of the MC4R in cells expressing the F261S mutant receptor. The resting metabolic rate and fat composition of the mutant carriers were not significantly different from those of the non-mutated obese controls.</p><p><b>CONCLUSIONS</b>The decreased response to alpha-MSH due to the intracellular retention of MC4R may cause early-onset obesity in the F261S pedigree of Chinese.</p>

Resting energy expenditure and its relationship with patterns of obesity and visceral fat area in Chinese adults / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate the relationship between resting energy expenditure (REE) and patterns of obesity/regional fat parameters in Chinese adults.</p><p><b>METHODS</b>Body mass index (BMI), fat mass (FM), fat-free mass (FFM) were assessed in 109 Chinese adults (52 men and 57 women), and their abdominal visceral adipose tissue area (VA) and subcutaneous fat area (SA) were measured using magnetic resonance imaging (MRI) measurements. REE was measured with indirect calorimetry and compared with normal and obese subjects. Multivariate analysis was used to study the factors related to REE.</p><p><b>RESULTS</b>The resting energy expenditure per kilogram of body weight (REE/kg) was closely related with the area of abdominal visceral fat measured with MRI. REE/kg was significantly lower in overweight/obesity subjects than in normal-weighted subjects, and significantly lower in subjects with abdominal obesity (VA > or = 100 cm2) than in subjects with non-abdominal obesity (VA < 100 cm2, BMI > or = 25 kg/m2). In the stepwise regression analysis of REE/kg on regional fat parameters, VA in men and women and SA in women were independent factors reversely related to REE/kg.</p><p><b>CONCLUSION</b>REE/kg is associated with the visceral fat area and more prominent in men. REE/kg can be used as an index in the pathophysiology of intra-abdominal obesity.</p>