Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.

RATIONALE: The diagnosis of Gentleman syndrome (GS) is usually delayed because the clinical symptoms are easily mistaken. PATIENT CONCERNS: A 19-year-old male patient was referred to endocrinology due to intermittent twitch of extremities for approximately 7 years. DIAGNOSES: The diagnosis of GS was made based on the laboratory and gene detection results. We identified 2 new variants in the SLC12A3 gene [c.857 A > C (exon7) and c.2089_2095del (exon17)] in his Asian family. INTERVENTIONS: The patient received the treatment of potassium chloride sustained release tablets, potassium magnesium aspartate and spironolactone. After given potassium supplement through enema, his serum potassium level was corrected to normal. OUTCOMES: The electrolyte imbalance including hypokalemia and hypomagnesemia were improved with a remission of the clinical manifestations. But the patient's condition still could not remain stable for his irregular oral potassium supplementation during the follow-up of nearly 3 months. LESSONS: Our finding broadens the variant spectrum of SLC12A3 and contributes to a more quickly genetic counseling. As a result, when a patient presents with persistent, unspecified, and inadequately treated hypokalemia, tests for GS should indeed be considered. For suspected cases of GS, genetic testing should always be considered in the diagnosis.

The Association Between Pancreatic Steatosis and Metabolic Syndrome: A 5-Year Follow-up Study Among a General Chinese Population.

OBJECTIVES: To date, the complete natural history of pancreatic steatosis is unknown. This study aimed to investigate the association of fatty pancreas (FP) in the incidence of metabolic syndrome and its components among Chinese patients with a 5-year follow-up. METHODS: Three independent cross-sectional surveys were carried out in 2013, 2015, and 2018. Fatty pancreas was diagnosed via transabdominal sonography. Logistic regression analysis was used to estimate the correlation between FP and metabolic syndrome. New cases of metabolic syndrome and its components were estimated by Cox proportional hazards models. RESULTS: At baseline, 12,551 individuals classified into FP (n = 1010) and non-FP (n = 11,541) groups were finally enrolled. In cross-sectional analyses, odds ratio of FP was 2.378 (95% confidence interval [CI], 2.085-2.713; P < 0.001). In longitudinal analyses, FP was associated with the occurrence of metabolic syndrome (hazard ratio [HR], 3.179; 95% CI, 2.197-4.6; P < 0.001), type 2 diabetes mellitus (HR, 13.99; 95% CI, 7.865-24.883; P < 0.001), nonalcoholic fatty liver disease (HR, 31.843; 95% CI, 7.73-131.171; P < 0.001), and hypertension (HR, 12.801; 95% CI, 7.323-22.38; P < 0.001). CONCLUSIONS: Pancreatic steatosis is strongly associated with the occurrence of metabolic syndrome and its components such as hypertension and diabetes.

[Spatiotemporal Change and Source Apportionment of Non-point Source Nitrogen and Phosphorus Pollution Loads in the Three Gorges Reservoir Area].

The Three Gorges Reservoir area (TGRA) is a critical water source protection area in China and one of the regions with rapid economic development in the Yangtze River basin. Non-point source pollution is the leading cause of the deterioration of the water environment in the TGRA; therefore, studying the non-point source pollution status in the TGRA is of great significance to the regional ecological security and sustainable development. The improved export coefficient model was used to estimate the total non-point source nitrogen and phosphorus pollution loads in the TGRA from 1990 to 2015, the spatial and temporal characteristics of the non-point source nitrogen and phosphorus pollution were analyzed, and the primary sources of pollution were determined by calculating the contribution rate of each pollution source. The results concluded that the nitrogen and phosphorus pollution loads were highest in the hinterland of the reservoir, followed by the end of the reservoir, with the lowest in the head of the reservoir, showing significant spatial heterogeneity in the TGRA. The total loads of nitrogen and phosphorus pollution increased firstly and then decreased, which reached the highest value in 2000 and the lowest value in 2015. The contribution rate of each pollution source to the nitrogen and phosphorus pollution loads, from highest to lowest, were land use, rural life, livestock, and poultry farming. Among them, the land use type of dry land was the predominant source of non-point source nitrogen and phosphorus pollution.

Mayer-Rokitansky-Küster-Hauser Syndrome with a Solitary Duplex Kidney and Anal Stenosis: Report of a Rare Case.

BACKGROUND: To date, only 23 cases of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with duplex kidney have been reported. We present the first reported case of MRKH syndrome with solitary duplex kidney and anal stenosis. CASE: A 17-year-old Chinese girl presented with primary amenorrhea and fully developed secondary sex characteristics. Ultrasonography of the abdomen and pelvis revealed the absence of the right kidney, a left duplex kidney, and a primordial uterus. Surgery for anal stenosis was performed when she was 1 year of age. The patient had a normal 46, XX karyotype.

The association between pancreas steatosis and metabolic syndrome: A systematic review and meta-analysis.

OBJECTIVES: Pancreas steatosis is the description of fat accumulation in the pancreatic gland. The prevalence and development mechanisms of pancreatic steatosis in patients with metabolic disorders still remain unclear. The aim of this study is to systematically review the association between pancreatic steatosis and metabolic co-morbidities. METHODS: We performed a systematic search strategy using three electronic databases (MEDLINE, Scopus, and Embase) for relevant studies concerning the associations of pancreatic steatosis with metabolic syndrome (MetS) and its clinical relevance from inception until 30 September 2018. RESULTS: One thousand three hundred fifty one references were identified in the initial search, and a total of 13 studies involving 49 329 subjects were included. This analyses elucidated the presence of non-alcoholic fatty pancreas disease (NAFPD) and was associated with a significant increased risk of metabolic syndrome (RR = 2.25; 95% CI, 2.00-2.53; P < 0.0001; I2  = 42.8%; eight studies included), hypertension (RR = 1.43; 95% CI, 1.08-1.90; P = 0.013; I2  = 94.7%; nine studies included), non-alcoholic fatty liver disease (NAFLD) (RR = 2.49; 95% CI, 2.06-3.02; P < 0.0001; I2  = 96.9%; nine studies included), diabetes mellitus (RR = 1.99; 95% CI, 1.18-3.35; P = 0.01; I2  = 97.6%; 10 studies included), and central obesity (RR = 1.91; 95% CI, 1.67-2.19; P < 0.0001; I2  = 95.9%; six studies included). The association between NAFPD and hyperlipidaemia was not statistically significant (RR = 1.33; 95% CI, 0.82-2.17; P = 0.249; I2  = 97%; five studies included). CONCLUSIONS: The existing evidence indicates that NAFPD is significantly associated with an increased risk of metabolic syndrome and its components. Well-designed prospective cohort studies between pancreatic steatosis and MetS are needed to elaborate the causality in the future.

The correlation between pancreatic steatosis and metabolic syndrome in a Chinese population.

BACKGROUND: Type 2 diabetes mellitus, obesity and hepatic steatosis showed a strong correlation with metabolic syndrome. However, data on the influence of pancreatic steatosis on metabolic syndrome are lacking. OBJECTIVE: Our aim is to perform the prevalence of pancreatic steatosis in adults and its association with metabolic syndrome in a Chinese population. METHODS: This was a cross-sectional study, randomly selected. A total of 1190 health examination subjects were recruited. Pancreatic steatosis or hepatic steatosis was diagnosed via trans-abdominal sonography. The clinical and metabolic parameters were compared between the two groups, and their associations with pancreatic steatosis were examined. RESULTS: The prevalence of pancreatic steatosis was 30.7%. The presence of pancreatic steatosis was significantly increased by age, gender, central obesity, hepatic steatosis, hypertriglyceridemia and hyperglycemia. In the logistic regression analysis, age (P < 0.05), central obesity (P < 0.01), diabetes (P < 0.05), hypertriglyceridemia (P < 0.05) and hepatic steatosis (P < 0.01) were independently associated with pancreatic steatosis. The number of the parameters of the metabolic syndrome in pancreatic steatosis group was more than that in non-pancreatic steatosis group [(2.5 ± 1.1) vs (1.4 ± 1.2)] (P < 0.01). CONCLUSION: The pancreatic steatosis is strongly associated with the parameters of metabolic syndrome, such as central obesity, diabetes, and hepatic steatosis.

KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR GENES AND THEIR HLA-C LIGANDS IN HASHIMOTO THYROIDITIS IN A CHINESE POPULATION.

OBJECTIVE: Natural killer (NK) cells serve as primary immune surveillance and are partially regulated by combinations of killer immunoglobulin-like receptors (KIR) and their human leukocyte antigen-C (HLA-C) ligands. Alterations in NK cell activity have been associated with Hashimoto thyroiditis (HT). The aim of this study was to determine whether certain KIR/HLA-C genotype combinations play a role in HT pathogenesis. METHODS: The present study enrolled 107 unrelated HT patients and 108 random healthy individuals in a case-control study. Blood was collected for DNA extraction; typing of KIR genes and HLA-C alleles was performed by polymerase chain reaction with sequence specific primers (PCR-SSP), followed by electrophoresis on agarose gels. RESULTS: Among a panel of KIR2D/HLA-C genotype combinations, the frequency of KIR2DS2/HLA-C1 was significantly increased in HT patients compared to controls (33.64% vs. 12.96%, P<.001). To further analyze the precise genotype, we investigated inhibitory or activating KIR/HLA-C gene pairs when their corresponding activating or inhibitory KIR genes were absent in the 2 groups. Only the frequency of KIR2DS2(-)2DL2/3(+)HLA-C1(+) was significantly decreased in HT patients compared to controls (48.60% vs. 70.37%, P = .001). CONCLUSION: Our data suggest that KIR2DS2/HLA-C1 may correlate with HT pathogenesis. On the contrary, the predominance of KIR2DL2/3/HLA-C1 in the absence of KIR2DS2 suggests a potential inhibitory role in HT pathogenesis. In conclusion, our findings may further elucidate the mechanisms underlying the pathogenesis of HT and other autoimmune diseases. ABBREVIATIONS: HLA-C = human leukocyte antigen-C HT = Hashimoto thyroiditis KIR = killer immunoglobulin-like receptor NK = natural killer PCR = polymerase chain reaction.

Development of a Novel, Anti-idiotypic Monoclonal Anti-prolactin Antibody That Mimics the Physiological Functions of Prolactin.

In this work, we prepared a panel of monoclonal anti-idiotypic antibodies to ovine prolactin (oPRL) by the hybridoma technique. Among these antibodies, one anti-idotypic antibody (designated B7) was chosen for further characterization by a series of experiments. We first demonstrated that B7 behaved as a typical Ab2ß based on a series of enzyme-linked immunosorbent assays. Subsequently, the results of a competitive receptor-binding assay confirmed that B7 could specifically bind to the prolactin receptor (PRLR) expressed on target cells. Finally, we examined its biological activities in CHO-PRLR and Nb2 cells and observed that B7 could activate Janus kinase 2-signal transducer and activator of transcription signalling in CHO-PRLR and Nb2 cells and induce BaF3 proliferation. The present study suggests that i) B7 can serve as a PRLR agonist or PRL mimic and has potential applications in regulating mammary gland development, milk production and maintenance of lactation in domestic animals and ii) B7 may be a biological reagent that can be used to explore the mechanism of PRLR-mediated intracellular signalling.

Circulating irisin is lower in gestational diabetes mellitus.

Irisin is a newly identified myokine. Several studies have reported irisin concentrations in patients with gestational diabetes mellitus (GDM), but because of smaller sample sizes, the data from previous reports showed a wide range in serum/plasma irisin. Therefore, the present investigation is designed to summarize a precise confidence interval of circulating irisin in participants with GDM from a cross-sectional study in Chinese population and a meta-analysis for validation. Serum irisin was tested in patients with GDM and healthy controls (newly diagnosed cases: 61 and matched controls: 61) in the cross-sectional study. The two groups of participants were matched for age and pregnancy duration. Furthermore, we did a comprehensive meta-analysis to confirm whether serum/plasma irisin differs between participants with GDM and controls. Articles reported "circulating irisin and GDM" in Medline, PubMed, and EMBase were obtained, with the key word "myokine" or "irisin". The comparison was analyzed by Review Manager 5.2. In the cross-sectional investigation, serum irisin showed a significant lower level in the GDM patients, compared with that in the control group. In the meta-analysis study, the summarized results of the present 5 studies in which 632 participants were included indicated that there was a lower level irisin of -58.68 ng/mL [95% confidence interval (CI)](-113.42, -3.93, P=0.04) in GDM patients than in the control group. The present cross-sectional investigation and meta-analysis is the first to show significant lower circulating irisin in subjects with GDM.

The association between the Survivin A9194G exon polymorphisms and papillary thyroid carcinoma risk in the Han Chinese population.

The dysregulation of apoptosis plays a key role in carcinogenesis. This study was designed to investigate the association of apoptosis-related gene survivin A9194G single-nucleotide polymorphisms (SNPs) with papillary thyroid carcinoma (PTC) susceptibility. A case-control study of 126 patients and 198 controls was performed to investigate the association between Survivin A9194G polymorphisms and PTC susceptibility by polymerase chain reaction (PCR) following DNA sequencing methods. Moreover, the distribution of genotype frequency and the association of genotype with clinicopathologic characteristics were analyzed. We found that the survivin A9194G genotype was at a decreased risk of PTC (P=0.003; odds ratio (OR)=0.56). Furthermore, compared to the PTCs of the AA and AG phenotypes, the GG genotype thyroid cancers were significantly more common in younger patients and in cases of lower pathologic stages. In conclusion, the survivin (A9194G) polymorphism was found to play a protective role in the susceptibility to PTC. Nevertheless, further investigation with a larger sample size is needed to support our results.

[The effects of high-protein, low-carbohydrate diet on body weight and the expression of gastrointestinal hormones in diet-induced obesity rat].

OBJECTIVE: To investigate the effects of long-term high-protein, low-carbohydrate diet on body weight and the expression of gastrointestinal hormones in diet-induced obesity rats. METHODS: Twenty-four diet-induced obesity rat models were established by feeding fat-enriched diet, then were randomly divided into two groups by stratified sampling method by weight: the high-protein diet group (HP, 36.7% of energy from protein), and the normal chow group (NC, 22.4% of energy from protein), 12 rats in each group. The total calorie intake of each rat per day was similar and was maintained for 24 weeks, then body weight, visceral fat mass, fasting plasma ghrelin and glucagon-like peptide-1 (GLP-1) were determined, as well as protein expression of ghrelin in stomach, GLP-1 in ileum were detected by immunohistochemistry. RESULTS: After 24 weeks, body weight of HP, NC groups were (490.92 ± 39.47) g and (545.55 ± 31.08) g, respectively (t = -3.664, P < 0.01); visceral fat mass were (22.42 ± 7.04) g and (32.33 ± 9.27) g, respectively (t = -2.503, P < 0.05); plasma ghrelin level were (2.36 ± 0.82) and (1.95 ± 0.64) ng/ml, respectively (t = 1.337, P > 0.05), and plasma ghrelin level was negatively correlated to body weight (r = -0.370, t = -1.899, P < 0.05), visceral fat mass (r = -0.454, t = -2.52, P < 0.01); plasma GLP-1 concentration were (0.52 ± 0.13) and (0.71 ± 0.19) ng/ml, respectively(t = -2.758, P < 0.05); ghrelin protein expression in stomach were 25 473 ± 8701 and 10 526 ± 6194, respectively (t = 2.501, P < 0.05); GLP-1 protein expression in ileum were 27 431 ± 5813 and 36 601 ± 5083, respectively (t = -1.833, P = 0.081). CONCLUSION: Long-term isocaloric high-protein, low-carbohydrate diet can reduce body weight and visceral fat, increase the expression of ghrelin, and decline GLP-1 expression in diet-induced obesity rats.

[Protective effect of calcium dobesilate against early diabetic nephropathy of rat kidney].

The aim of this study is to study the effect of calcium dobesilate on streptozotocin (STZ)-induced early diabetic nephrophathy (DN) in rats. All male Wistar rats were randomly divided into six groups: normal group; DN blank group; calcium dobesilate 75, 150, and 300 mg x kg(-1) groups and perindopril 0.4 mg x kg(-1) group. Blood glucose and the 24 h urinary albumin were measured dynamically during the experiment, after 8 weeks administration, the level of glycosylated hemoglobin (HbA1c) was determined, the expressions of plasminogen activator inhibitor-1 (PAI-1) and matrix metalloprotein-9 (MMP-9) in cortex of kidney were examined with immunohistochemical staining. The endothelin (ET) in plasma and kidney cortex was measured with radioimmunoassay, renal pathomorphism was observed with light and electron microscopes. Calcium dobesilate could decrease the 24 h urinary albumin and ET in plasma and kidney cortex, down-regulate the expression of PAI-1, and up-regulate MMP-9 in kidney. These findings suggested that calcium dobesilate could protect blood vessel endothelium, inhibit kidney fibrous degeneration, ameliorate renal pathological damage, and protect kidney function in many ways.