Objective To investigate the relationship between serum uric acid (UA) level and abdominal obesity or metabolic syndrome (MS).Methods A total of 875 subjects,with 350 males and 525 females,aged 40-65 years old,were enrolled in this study.The clinical and biochemical data were collected and MRI was used to assess the visceral and subcutaneous adipose tissues.The relationships between UA level and abdominal obesity or MS were analyzed,and the cut-off values of UA for abdominal obesity and MS were determined.Results Raised risks of abdominal obesity (OR =4.35,95％ CI 1.91-9.90 in males; OR =5.44,95％ CI 2.41-12.31 in females) and MS (OR =4.47,95 ％ CI 2.08-9.62 in males; OR =11.62,95％ CI 3.43-39.37 in females) were observed with the increase of UA level.The multiple logistic regression analysis showed that UA was an independent risk factor for hypertriglyceridemia (OR =2.23,95％ CI 1.02-4.87 in males ; OR =3.04,95％ CI 1.49-6.23 in females) in all subjects and for abdominal obesity(OR =3.23,95％ CI 1.32-7.91) and hypertension (OR =2.35,95％ CI 1.37-4.05)in the females.Among the females,the regression line analyzed by simple correlation indicated that the UA level of 244.0 μmol/L was corresponded to the visceral adipose tissue area of 80 cm2.The optimal cut-off point of UA for the diagnosis of MS was 258.8 μmol/L determined by the receiver operating characteristic curve.Conclusions The level of UA is closely correlated with abdominal obesity and MS in the middleaged Chinese.The elevated UA level is an independent risk factor for abdominal obesity and MS in the female.

OBJECTIVETo investigate whether the angiotensin II type I receptor gene (AGTR1) A1166C polymorphism is associated with a high risk of diabetic nephropathy.

METHODSThe allele frequency and the genotype distribution of the AGTR1 A1166C polymorphism were studied in normal controls (157 cases), simple diabetes (141 cases, duration of diabetes >10 years), and diabetic nephropathy (152 cases) by means of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

RESULTSPatients with diabetic nephropathy had a higher frequency of C allele of the AGTR1 A1166C polymorphism than that of normal controls and simple diabetes (P<0.05); but there was no significant difference in frequency of C allele between the normal controls and patients with simple diabetes.

CONCLUSIONThe diabetic patients with AGTR1 C allele may be more susceptible to diabetic nephropathy than diabetic patients with A allele.

Aged ; Diabetic Nephropathies ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptor, Angiotensin, Type 1 ; genetics

A young female patient with type Ⅰb pseudohypoparathyroidism(PHP) complicated with hypokalemia was retrospectively analyzed. She experienced recurrent episodes of limb weakness with bilateral upper limb spasms. Laboratory tests revealed low blood calcium, high blood phosphate, elevated parathyroid hormone, low urine calcium, and hypokalemia. Genetic testing did not detect mutations in guanine nucleotide-binding protein α-stimulating activity polypeptide(GNAS) or syntaxin 16(STX16) genes, but identified a maternal heterozygous mutation in solute carrier family 4 member A1(SLC4A1) gene. Multiple ligation-dependent probe amplification(MLPA) indicated GNAS antisense transcript(GNAS-AS), non-coding exons(GNAS-A/B), extra-large Gsα variant(GNAS-XLα) methylation loss, and neuroendocrine secretory protein 55(NESP55) hypermethylation. Through analysis of her diagnosis and treatment process and review of relevant literature, we aim to enhance understanding and management of type Ib PHP.

Objective:To explore the value of MRI signs in assessing the presence or absence of hernia sacs in fetuses with congenital diaphragm hernia.Methods:MRI images of 57 patients with congenital diaphragm hernia confirmed by postpartum surgery were analyzed from November 2016 to December 2020 in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, with a gestational age of 20－40 (28±5) weeks. In postpartum surgery, 18 cases were found with hernia sacs (hernia sac group) and 39 cases without hernia sacs (hernia-free group). Seven MRI signs were analyzed, including hernia peripheral enveloping sensation, smooth lung-hernia interface, crescent-shaped lung compression, residual lung tissue on the affected side, heart displacement, effusion above the lung-hernia interface and effusion below the lung-hernia interface. The differences in MRI signs between the hernia sac and hernia-free groups were compared using the χ 2 test or Fisher′s exact probability method. The diagnostic efficacy of each sign was calculated. The MRI signs with statistical differences between the two groups were included in the predictive integration model, and 1 point was scored for each sign, the imaging score of each fetus was calculated, and the efficacy of imaging points in diagnosing the presence or absence of hernia sacs was assessed by the subject manipulation receiver operating characteristics (ROC) curve. Results:There were statistically significant differences in 5 MRI signs between the hernia sac and the hernia-free groups, namely hernia peripheral enveloping sensation (χ2=25.74, P<0.001), smooth lung-hernia interface (χ2=48.20, P<0.001), crescent-shaped lung compression (χ2=57.00, P<0.001), residual lung tissue on the affected side (χ2=12.14, P<0.001) and effusion above the lung-hernia interface (χ2=4.31, P=0.022). Among them, the sign of crescent-shaped lung compression had the highest diagnostic efficacy, and the sensitivity, specificity and accuracy all were 100%. Five statistically significant MRI signs were included in the predictive integration model, and the area under the ROC curve was 0.999, the sensitivity was 100%, the specificity was 94.9%, and the optimal threshold was 2 points. Conclusion:Fetal MRI signs and predictive integration model can effectively identify the presence or absence of hernia sacs in fetuses with congenital diaphragm hernia, which has certain clinical significance.