Hasil untuk "Diseases of the endocrine glands. Clinical endocrinology"

Shuting Yang, Shuting Yang, Shuting Yang et al.

BackgroundThis study aimed to evaluate the performance of diverse open-source large language models (LLMs) in diagnosing diabetes subtypes and comorbidities from unstructured clinical text, assessing the impact of model characteristics, prompting, and language.MethodsWe conducted a retrospective analysis of 11,329 adult diabetes patients from a large Chinese tertiary center (2010–2020). Various open-source LLMs were tested using four prompting strategies in English and Chinese. Primary outcomes were F1-scores for multi-class diabetes subtyping and binary classification of diabetic kidney disease (DKD) and metabolic syndrome (MetS).ResultsLLMs demonstrated high performance in complex subtyping (peak F1 0.951) but showed limitations in rule-based DKD (F1 0.570) and MetS (F1 0.650) diagnosis. Chain-of-Thought prompting improved MetS classification but degraded DKD performance. Optimal model size was approximately 32B parameters. Notably, English prompts outperformed Chinese prompts on native Chinese text.ConclusionOpen-source LLMs exhibit strong holistic pattern recognition for complex classification but struggle with rule-based procedural reasoning. These models are promising as clinical co-pilots to augment expert decision-making rather than serving as autonomous diagnostic tools.

Justyna Nowak, Justyna Nowak, Marzena Jabczyk et al.

BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder often associated with disturbances in glucose metabolism and insulin resistance (IR), increasing the risk of type 2 diabetes (T2DM). Standard assessment of glucose dysregulations and IR requires laboratory tests, but simple anthropometric indices, including BMI, WHtR, WHR, VAI, LAP, BAI, BRI and ABSI, may provide non-invasive tools for early risk screening. Their predictive value and optimal cut-off points for detecting glucose dysregulation and IR in PCOS remain unclear.ObjectivesThis study aims to evaluate the clinical utility of anthropometric indices in identifying glucose dysregulation in women with PCOS, and to provide prognostic insight with potential cut-off points for these indices.MethodsThis cross-sectional study included 49 women with PCOS according to Rotterdam criteria. Anthropometric measurements (BMI, WC, WHR, WHtR, VAI, BAI, LAP, BRI, ABSI) and fasting biochemical parameters (glucose, insulin) were collected. Correlations between indices and carbohydrate disturbances were assessed using Pearson or Spearman coefficients. The predictive ability of anthropometric indices for glucose dysregulations and IR were evaluated using ROC curve analysis, including AUC, sensitivity, specificity, and optimal cut-off points, while logistic regression quantified the strength of associations.ResultsBMI, WHtR, BAI, VAI, LAP, and BRI were significantly correlated with fasting glucose and insulin levels, indicating a strong link between adiposity and IR in women with PCOS. Among these indices, VAI showed the highest predictive performance for elevated HOMA-IR (AUC = 0.933, cut-off point 0.99; sensitivity 85.7, specificity 90.5%), followed by LAP (AUC = 0.883, cut-off point 27.9) and BMI (AUC = 0.852, cut off point 27 kg/m2). WHtR, WC, and BRI also demonstrated significant predictive value (AUCs 0.821-0.831). Logistic regression revealed the strongest associations for BMI ≥27.25 kg/m2 and VAI ≥1.07 (OR = 57.0; 95% CI 9.41-345.15; p<0.001), with WC, WHtR, LAP, BAI, and BRI also showed significant predictive value for IR.ConclusionAnthropometric indices, particularly VAI, LAP, and BMI, reliably predicts glucose dysregulations and IR in women with PCOS. These simple, non-invasive measurements may serve as useful screening tools for early identifications of glucose dysregulation, aiding risk stratification and guiding further metabolic assessment.

Qian Wang, Dan Wu, Yan Huang et al.

Hypertension represents a paramount global health challenge, intricately linked to cardiovascular, metabolic, and cognitive morbidity. This narrative review provides a critical synthesis of current evidence, anchored by a systematic literature search, to delineate the integral role of comprehensive lifestyle interventions in the prevention and management of hypertension and its complications. Our analysis demonstrates that evidence-based, multidimensional strategies—including dietary modifications (e.g., DASH and Mediterranean diets), regular physical activity, structured weight management, and stress reduction—effectively lower blood pressure, improve metabolic parameters, and attenuate target organ damage. These non-pharmacological approaches act synergistically with antihypertensive drug therapy and can be personalized through digital health technologies. The findings underscore that embedding structured lifestyle medicine into clinical practice and public health policy is an indispensable, cost-effective strategy for alleviating the global burden of hypertension.

Zhaohuan Li, Zhaohuan Li, Anguo Luo et al.

ObjectivesWe aimed to quantitatively analyze wall shear stress (WSS) of the common carotid artery (CCA) and elucidate the relationship between WSS and cardiovascular disease (CVD) in patients with type 2 diabetes mellitus (T2DM) using ultrasound vector flow (V-Flow) imaging.MethodsA total of 109 T2DM patients were selected as the DM group, while 49 healthy volunteers served as the control group. V-Flow examination of the bilateral CCA was conducted. The maximum wall shear stress (WSSmax) and mean wall shear stress (WSSmean) at the bifurcation, proximal bifurcation and middle segment of the bilateral CCA were obtained.ResultsThe DM group showed decreased WSSmean in the middle region and proximal bifurcation of the CCA compared with the control group (p < 0.05). The WSSmean was further decreased in T2DM patients with CVD compared to those without CVD (middle region: 0.71 ± 0.17 Pa vs. 0.84 ± 0.24 Pa, p < 0.05; proximal bifurcation: 0.62 ± 0.22 Pa vs. 0.80 ± 0.21 Pa, p < 0.05). The receiver operating characteristic curve showed that a model combining with age, body mass index and WSSmean at the proximal carotid bifurcation had diagnostic value for detecting CVD in T2DM patients (area under the curve: 0.862, p < 0.05).ConclusionWSSmean has potential value for evaluation of atherosclerosis, as well as in detecting the occurrence of CVD in T2DM patients. Ultrasound V-Flow imaging may be an effective tool for non-invasive evaluation of WSS in the clinic.

Haiying Xu, Renyin Chen, Xiaoli Hou et al.

A crucial measure of diabetes management is to monitor blood glucose, which often requires continuous blood collection, leading to economic burden and discomfort. Blood glucose and glycated hemoglobin A1c serve as traditional indicators of glucose monitoring. But now glycated albumin, fructosamine, and 1,5-anhydroglucitol (1,5-AG) have been gaining more attention. 1,5-AG is a chemically stable monosaccharide that exists in the human body. Its serum concentration remains stable when blood glucose levels are normal. However, it decreases when blood glucose exceeds the renal glucose threshold. Studies have shown that 1.5-AG reflects blood glucose changes in 1 to 2 weeks; therefore, decreased levels of serum 1,5-AG can serve as a clinical indicator of short-term blood glucose disturbances. Recent studies have shown that 1,5-AG can be used not only for the screening and managing of diabetes but also for predicting diabetes-related adverse events and islet β cell function in prediabetic patients. In addition, saliva 1,5-AG demonstrates potential value in the screening and diagnosis of diabetes. This review focuses on the biological characteristics, detection methods, and clinical application of 1,5-AG to promote understanding and applicable research of 1,5-AG in the future.

Zichun Lin, Liyu Gao, Ning Hou et al.

IntroductionTissue-resident stem cells (TRSCs) have the ability to self-renew and differentiate throughout an individual’s lifespan, and they utilize both mechanisms to maintain homeostasis and regenerate damaged tissues. Several studies suggest that these stem cells can serve as a potential source for cell-replacement-based therapy by promoting differentiation or expansion. In recent years, low-intensity pulsed ultrasound (LIPUS) has been demonstrated to effectively stimulate stem cell proliferation and differentiation, promote tissue regeneration, and inhibit inflammatory responses.AimsTo present a comprehensive overview of current application and mechanism of LIPUS on tissue resident stem cells.MethodsWe searched PubMed, Web of Science for articles on the effects of LIPUS on tissue resident stem cells and its application.ResultsThe LIPUS could modulate cellular activities such as cell viability, proliferation and differentiation of tissue resident stem cells and related cells through various cellular signaling pathways. Currently, LIPUS, as the main therapeutic ultrasound, is being widely used in the treatment of preclinical and clinical diseases.ConclusionThe stem cell research is the hot topic in the biological science, while in recent years, increasing evidence has shown that TRSCs are good targets for LIPUS-regulated regenerative medicine. LIPUS may be a novel and valuable therapeutic approach for the treatment of ophthalmic diseases. How to further improve its efficiency and accuracy, as well as the biological mechanism therein, will be the focus of future research.

Xin Luo, Xin Luo, Xin Luo et al.

BackgroundThe gut-liver axis indicates a close relationship between the gastrointestinal microbiome (GM) and primary biliary cholangitis (PBC). However, the causality of this relationship remains unknown. This study investigates the causal relationship between the GM and PBC using a bidirectional, two-sample Mendelian randomization (MR) analysis.MethodsGenome-wide association data for GM and PBC were obtained from public databases. The inverse-variance weighted method was the primary method used for MR analysis. Sensitivity analyses were conducted to assess the stability of the MR results. A reverse MR analysis was performed to investigate the possibility of reverse causality.ResultsThree bacterial taxa were found to be causally related to PBC. Class Coriobacteriia (odds ratio (OR) = 2.18, 95% confidence interval (CI): 1.295-3.661, P< 0.05) and order Coriobacteriales (OR = 2.18, 95% CI: 1.295-3.661, P<0.05) were associated with a higher risk of PBC. Class Deltaproteobacteria (OR = 0.52, 95% CI: 0.362–0.742, P< 0.05) had a protective effect on PBC. There was no evidence of reverse causality between PBC and the identified bacterial taxa.ConclusionPreviously unrecognized taxa that may be involved in the pathogenesis of PBC were identified in this study, confirming the causality between the GM and PBC. These results provide novel microbial targets for the prevention and treatment of PBC.

Haobin Zeng, Likang Li, Bo Zhang et al.

Background: Evidence investigating sleep pattern in relation to bone health in elderly participants with osteoporosis remains sparse. We aimed to assess the relationship between sleep pattern incorporating five sleep characteristics (snoring, midnight waking up, insomnia, sleep duration, and daytime napping) and bone mineral density (BMD) in elderly participants with osteoporotic fracture. Methods: A cross-sectional study was conducted to include eligible elderly patients from the Department of Orthopedics who were admitted to hospital due to an osteoporotic fracture. Sleep pattern was constructed based on total sleep scores and categorized into healthy, intermediate, and poor pattern groups. Multivariable logistic regression model was used to assess sleep pattern in relation to risk of low BMD. Results: A total of 169 elderly patients with osteoporotic fracture were included in this study (mean age: 71.91 years; 87.57% females). There were 36 (21.30%), 107 (63.31%), and 26 (15.38%) patients with healthy, intermediate, and poor sleep pattern, respectively. Compared with healthy sleep pattern, no significant relationship between intermediate sleep pattern and BMD was detected [odds ratio (OR) = 1.72, 95% confidence interval (CI): 0.74, 3.97, p  = 0.21), while poor pattern was significantly associated with decreased BMD (OR = 3.50, 95% CI: 1.10, 11.14, p  = 0.034). Conclusion: The majority of elderly patients with osteoporotic fracture had unhealthy sleep pattern; poor sleep pattern was significantly related to reduced BMD when compared with healthy pattern. Further high-quality evidence is needed to assess and validate the relationship between sleep pattern and risk of low BMD in the elderly.

Yupu Liu, Yupu Liu, Juan Li et al.

BackgroundThe American Diabetes Association (ADA) 2003 diagnostic criteria divide impaired glucose tolerance (IGT) into isolated impaired glucose tolerance with normal fasting glucose (I-IGT, IGT+NFG) and impaired glucose tolerance combined with impaired fasting glucose (IGT+IFG), while the World Health Organization (WHO) 1999 criteria do not. The aim of this meta-analysis was to evaluate whether IGT should be divided into I-IGT (IGT+NFG) or IGT+IFG according to their risk of progression to type 2 diabetes.MethodsThe MEDLINE and EMBASE were searched to identify prospective cohort studies published in English prior to April 18, 2020. Review Manager 5.3 was used to calculate the pooled risk ratios (RRs) and 95% confidence intervals (CIs) as summary statistics for each included study.ResultsSixteen eligible studies (n = 147,006) were included in the analysis. The subsequent incidence of type 2 diabetes was lower in the I-IGT (IGT+NFG) group than in the IGT+IFG group (0.45 [95% CI 0.37, 0.55] according to WHO 1999 criteria and 0.59 [95% CI 0.54, 0.66] according to ADA 2003 criteria). It was higher in the I-IFG, I-IGT (IGT+NFG), and IGT+IFG groups than in the normoglycemic group (95% CI of 5.53 [3.78, 8.08], 5.21 [3.70, 7.34], and 11.87 [7.33, 19.20] according to the WHO 1999 criteria and 95% CI of 2.66 [2.00, 3.54], 3.34 [2.81, 3.97], and 6.10 [4.72, 7.88] according to the ADA 2003 criteria). In general, the incidence of diabetes in the IGT+IFG group was the highest in the prediabetic population.ConclusionsThe present meta-analysis suggested that the established WHO diagnostic criteria for IGT should be revised to separately identify individuals with IGT+NFG or IGT+IFG.

Yuan Liu, Siyi Guo, Shaowei Sang et al.

Background. Popularization of cervical ultrasound led to higher detection of papillary thyroid carcinoma (PTC) and primary hyperparathyroidism (PHPT), as well as increasing percentage of asymptomatic PHPT in China. Although the coexistence of PTC and PHPT has been reported, it is unknown whether the clinicopathological features of PTC differ between asymptomatic and symptomatic PHPT patients. Methods. We retrospectively reviewed the medical records of 304 PHPT patients treated in our hospital between January 2009 and July 2020, including 217 females and 87 males with the average age of 53.27 ± 13.54 years. Of the 304 patients, 181 were symptomatic PHPT patients and 123 were asymptomatic PHPT patients. We analyzed the laboratory results, postoperative pathology, and the TNM stage of PTC between asymptomatic and symptomatic PHPT patients. Results. Concurrent thyroid nodules were found in 61.51% of PHPT patients, and the prevalence of PTC in thyroidectomized PHPT patients was 29.89% in our cohort. Lower serum parathyroid hormone (PTH) (p<0.05) and calcium (p<0.05) were found in PHPT patients with PTC compared to patients with benign thyroid lesion. Compared with the symptomatic PHPT patients, the asymptomatic PHPT patients showed lower serum calcium (p<0.05), serum chlorine (p<0.05), alkaline phosphatase (p<0.05), PTH (p<0.05), and bone turnover markers (p<0.05) but higher prevalence of thyroid nodules (70.73% versus 55.24%, p<0.05) and PTC (15.44% versus 3.87%, p<0.05). All the PTC in symptomatic PHPT patients were papillary microcarcinoma limited to the thyroid, while 68.42% and 15.78% of the PTC in asymptomatic PHPT patients showed microscopic extrathyroidal extension and lymph node metastases, respectively. Moreover, 36.84% (7/19) of the PTC patients in asymptomatic group showed multifocality, which was much higher than 14.29% (1/7) in the symptomatic group; however, no statistical significance was found (p=0.24). Conclusions. The concomitant PTC in asymptomatic PHPT patients showed a higher rate of microscopic extrathyroidal invasion when compared to symptomatic PHPT patients. So the FNA is essential to the asymptomatic PHPT patients with suspicious thyroid nodules and once the PTC is confirmed, concurrent parathyroidectomy should be performed with thyroidectomy in asymptomatic PHPT patients.

Lina María Sierra Tobón, María Alejandra Texeira Panizza

  El presente artículo pone sobre el papel el trabajo realizado por un grupo de nutricionistas representantes de las asociaciones de los países miembros de FELANPE, quienes a partir de la Declaración Internacional de Cartagena sobre el derecho al cuidado nutricional y la lucha contra la malnutrición, reconocen la importancia del enfoque ético en el cuidado nutricional.

Leyla Akın, Mustafa Kendirci, Figen Narin et al.

Objective:We aimed to investigate a possible role of the endocrine disruptors phthalates, di-2-ethylhexyl phthalate (DEHP) and mono (<i>2-ethylhexyl</i>) phthalate (MEHP), in polycystic ovary syndrome (PCOS) aetiopathogenesis. We also wished to evaluate the relationship between phthalates and metabolic disturbances in adolescents with PCOS.Methods:A total of 124 adolescents were included. Serum MEHP and DEHP levels were determined by high-performance liquid chromatography. Insulin resistance was evaluated using homeostasis model assessment-insulin resistance, quantitative Insulin Sensitivity Check Index, fasting glucose/insulin ratio, Matsuda index, and total insulin levels during oral glucose tolerance test. Participants were further subdivided into lean and obese subgroups according to body mass index (BMI).Results:Sixty-three PCOS and 61 controls, (mean age 15.2±1.5; range: 13-19 years) were enrolled. Serum DEHP and MEHP concentrations were not significantly different between PCOS and control groups. The mean (95% confidence interval) values of DEHP and MEHP were 2.62 (2.50-2.75) μg/mL vs 2.71 (2.52-2.90) μg/mL and 0.23 (0.19-0.29) μg/mL vs 0.36 (0.18-0.54) μg/mL in PCOS and the control groups respectively, p>0.05. Correlation analysis, adjusted for BMI, showed that both phthalates significantly correlated with insulin resistance indices and serum triglycerides in adolescents with PCOS.Conclusion:Serum DEHP and MEHP concentrations were not different between adolescents with or without PCOS. However, these phthalates are associated with metabolic disturbances such as dyslipidemia and insulin resistance, independently of obesity, in girls with PCOS.

Ji Hye Kim, Byung Jin Kim

Jun Song, Chuan Wang, Aixia Ma et al.

Abstract Aims/Introduction To investigate the correlation between snoring and chronic kidney disease (CKD), and explore whether metabolic syndrome (MetS) plays an important role in this relationship among middle‐aged and elderly Chinese. Materials and Methods The participants included in the present study were categorized into three subgroups based on self‐reported snoring frequency (regularly [≥3 times per week], occasionally [between ‘regularly’ and ‘never’] or never [<1 time per month]). An estimated glomerular filtration rate <60 mL/min/1.73 m2 was considered as CKD. We diagnosed MetS based on the 2004 Chinese Diabetes Society criteria. We explored the relationship between snoring and CKD by using multiple logistic regressions. Results The frequency of MetS, MetS components and CKD was dramatically higher in regular snorers than in non‐snorers and occasional snorers. The odds ratios for MetS and all the MetS elements, except for hyperglycemia, increased progressively with the snoring frequency (P < 0.001). Upon additional adjustment for other MetS components, snoring was not significantly related with hypertension; however, the associations between snoring frequency and overweight/obesity and dyslipidemia became attenuated, but still remained statistically significant (P < 0.01). Interestingly, odds ratios for CKD also increasingly augmented with snoring frequency (P < 0.001). Upon further adjustment for individual MetS components or MetS, regular snoring also resulted in a significantly increased odds ratio for CKD (odds ratio 1.72; P = 0.034) relative to non‐snoring. Conclusions Self‐reported snoring is closely associated with CKD independent of MetS among middle‐aged and elderly Chinese.

Rosa Maria Paragliola, Roberto Salvatori

Surgery is considered the treatment of choice in acromegaly, but patients with persistent disease after surgery or in whom surgery cannot be considered require medical therapy. Somatostatin receptor ligands (SRLs) octreotide (OCT), lanreotide, and the more recently approved pasireotide, characterized by a broader receptor ligand binding profile, are considered the mainstay in the medical management of acromegaly. However, in the attempt to offer a more efficacious and better tolerated medical approach, recent research has been aimed to override some limitations related to the use of currently approved drugs and novel SRLs therapies, with potential attractive features, have been proposed. These include both new formulation of older molecules and new molecules. Novel OCT formulations are aimed in particular to improve patients’ compliance and to reduce injection discomfort. They include an investigational ready-to-use subcutaneous depot OCT formulation (CAM2029), delivered via prefilled syringes and oral OCT that uses a “transient permeability enhancer” technology, which allows for OCT oral absorption. Another new delivery system is a long-lasting OCT implant (VP-003), which provide stable doses of OCT throughout a period of several months. Finally, a new SRL DG3173 (somatoprim) seems to be more selective for GH secretion, suggesting possible advantages in the presence of hyperglycemia or diabetes. How much these innovations will actually be beneficial to acromegaly patients in real clinical practice remains to be seen.

Qiuli Liu, Lin-ang Wang, Jian Su et al.

Congenital adrenal hyperplasia (CAH) is one of the most prevalent, and potentially severe, genetic inborn errors of steroid synthesis directly affecting metabolism. Most patients are diagnosed and treated at an early age. There have been very limited reports of adults with CAH-associated adrenal myelolipomas. We aimed to analyze two families with CAH-associated giant adrenal myelolipomas caused by defects in CYP21A2 and CYP17A1 genes. A total of 14 individuals from two unrelated families were identified with either CYP21A2 or CYP17A1 mutations. Of note, five patients were found with adrenal myelolipomas. Total DNA isolated from the peripheral blood of the two probands was screened for potential mutations in the following susceptibility genes of CAH: CYP21A2, CYP11B1, CYP17A1, HSD17B3, HSD3B2, ARMC5, and STAR using target capture-based deep sequencing; and Sanger sequencing was conducted for the family members to detect the potential mutations. The following results were obtained. In family 1, molecular genetics sequencing revealed a compound heterozygous mutation (c.293-13C>G/c.518T>A, p.I173N) in CYP12A2 in the patient and his brother. In family 2, all three female patients with adrenal myelolipomas were found to have a compound heterozygous mutation (c.1118A>T, p.H373L/c.1459_1467del9, p.D487_F489del) in CYP17A1. To avoid giant CAH-associated adrenal myelolipomas in adults, it is important to identify CAH early so that appropriate treatment can be initiated to interrupt the chronic adrenal hyperstimulation resulting from increased ACTH. Genetic testing and counseling could be useful in CAH.

Maria Magdalena Montt-Guevara, Jorge Eduardo Shortrede, Maria Silvia Giretti et al.

The relationship between androgens and breast cancer is controversial. Androgens have complex effects on breast cancer progression and metastasis. Moreover, androgens receptor (AR) is expressed in approximately 70% to 90% of invasive breast carcinomas, which has prognostic relevance in basal-like cancers and in triple negative breast cancers. Recent studies have associated the actin-binding proteins of the Ezrin-Radixin-Moesin (ERM) family with metastasis in endocrine-sensitive cancers. We studied on T47D breast cancer cells whether androgens with different characteristics, such as testosterone (T), dihydrotestosterone (DHT) and dehydroepiandrosterone (DHEA) may regulate breast cancer cell motility and invasion through the control of actin remodelling. We demonstrate that androgens promote migration and invasion in T47D via Moesin activation. We show that T and DHEA exert their actions via the AR and estrogen receptor (ER), while the non aromatizable androgen – DHT only recruits AR. We further report that androgen induced significant changes in actin organization with pseudopodia along with membrane ruffles formation, and this process is mediated by Moesin. Our work identifies novel mechanisms of action of androgens on breast cancer cells. Through the modulation of Moesin, androgens alter the architecture of cytoskeleton in T47D breast cancer cell and promote cell migration and invasion. These results could help to understand the biological actions of androgens on breast cancer, and eventually to develop new strategies for treatment of breast cancer.

Jie Zhao, Wuquan Deng, Yuping Zhang et al.

Serum cystatin C (CysC) has been identified as a possible potential biomarker in a variety of diabetic complications, including diabetic peripheral neuropathy and peripheral artery disease. We aimed to examine the association between CysC and diabetic foot ulceration (DFU) in patients with type 2 diabetes (T2D). 411 patients with T2D were enrolled in this cross-sectional study at a university hospital. Clinical manifestations and biochemical parameters were compared between DFU group and non-DFU group. The association between serum CysC and DFU was explored by binary logistic regression analysis. The cut point of CysC for DFU was also evaluated by receiver operating characteristic (ROC) curve. The prevalence of coronary artery disease, diabetic nephropathy (DN), and DFU dramatically increased with CysC (P<0.01) in CysC quartiles. Multivariate logistic regression analysis indicated that the significant risk factors for DFU were serum CysC, coronary artery disease, hypertension, insulin use, the differences between supine and sitting TcPO2, and hypertension. ROC curve analysis revealed that the cut point of CysC for DFU was 0.735 mg/L. Serum CysC levels correlated with DFU and severity of tissue loss. Our study results indicated that serum CysC was associated with a high prevalence of DFU in Chinese T2D subjects.

Narinder Singh, Ravi Kumar Parihar, Ghanshyam Saini et al.

Objective: To estimate the prevalence of metabolic syndrome among adolescents attending school in the Jammu region, India. Materials and Methods: This is a cross-sectional study conducted between November 2009 and December 2010, among a total of 1160 school-going adolescents of both sexes aged 10-18 years. Relevant metabolic and anthropometric variables were analyzed and criteria suggested by National Cholesterol Education Program Adult Treatment Panel Third (NCEP-ATP III) modified for age was used to define metabolic syndrome. Results: The overall prevalence of metabolic syndrome was 2.6%. Prevalence of metabolic syndrome was higher in males (3.84%) than in females (1.6%) and slightly higher in urban area (2.80%) than in rural area (2.52%), whereas prevalence of metabolic syndrome among centrally obese subjects was as high as 33.33%. High density lipoprotein cholesterol was the most common and high blood pressure was the least common constituent of metabolic syndrome. Metabolic syndrome was most prevalent in 16-18 years age group (4.79%). Conclusion : This study demonstrates that metabolic syndrome phenotype exists in substantial number (up to 3%) of adolescent population in the Jammu region, India, and particularly 33% of obese adolescents are at risk to develop metabolic syndrome. These findings pose a serious threat to the current and future health of these young people.

Małgorzata Tokarska, Ewa Barg, Beata Wikiera et al.

Poddaliśmy analizie siedem najczęściej występujących mutacji genu CYP21B, odpowiedzialnych za wrodzony przerost kory nadnerczy (WPN, ang. CAH), wykorzystując metodę multipleksowego minisekwencjonowania. Sekwencje funkcjonalnego genu CYP21B namnożone zostały przy użyciu pary primerów, zapobiegających amplifikacji pseudogenu CYP21P lub hybryd pseudogenu CYP21B i genu CYP21P. Minisekwencjonowanie multipleksowe (SNaPShot PCR) wykonano z użyciem fluorescencyjnie znakowanych dideoksynukleotydów ([F]ddNTPs) i oryginalnie zaprojektowanych primerów, komplementarnych do miejsc występowania siedmiu najczęstszych mutacji, odpowiedzialnych za objawy WPN. W pięciu sposród siedmiu analizowanych miejsc mutacji stwierdziliśmy pięć nieopisanych dotąd substytucji o nieznanym wpływie na przebieg choroby. W porównaniu do klasycznych metod analizy polimorfizmu pojedynczych podstawień, multiplex minisequencing jest metodą równie specyficzną i czułą, ale znacznie szybszą. Metoda jest szczególnie polecana do populacyjnej, przesiewowej analizy znanych miejsc mutacji.