Generation of β cells from iPSC of a MODY8 patient with a novel mutation in the carboxyl ester lipase (CEL) gene.

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MODY8 is a rare form of monogenic diabetes characterized by a mutation in CEL (carboxyl-ester-lipase) gene, which leads to exocrine pancreas dysfunction, followed by β cell failure. Induced pluripotent stem […]

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No Venous Thromboembolism Increase Among Transgender Female Patients Remaining on Estrogen for Gender Affirming Surgery.

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Both surgery and exogenous estrogen use are associated with increased risk of venous thromboembolism (VTE). However, it is not known whether estrogen hormone therapy (HT) exacerbates the surgery-associated risk among […]

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Preoperative BMI Predicts Postoperative Weight Gain in Adult-Onset Craniopharyngioma.

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Craniopharyngiomas, while benign, have the highest morbidity of all non-malignant sellar tumors. Studies on weight and metabolic outcomes in adult-onset craniopharyngioma (AOCP) remain sparse.To examine postsurgical weight and metabolic outcomes […]

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Full Inequities in Diabetic Ketoacidosis among Patients with Type 1 diabetes and COVID-19: Data from 52 US Clinical Centers.

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We examined whether diabetic ketoacidosis (DKA), a serious complication of type 1 diabetes (T1D) was more prevalent among Non-Hispanic (NH) Black and Hispanic patients with T1D and laboratory-confirmed COVID-19 compared […]

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Lower insulin clearance is associated with increased risk of type 2 diabetes in Native Americans.

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Impaired insulin clearance is implicated in the pathogenesis of type 2 diabetes, but prospective evidence remains limited. Therefore, we sought to identify factors associated with the metabolic clearance rate of […]

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Levoketoconazole, the 2S,4R Enantiomer of Ketoconazole, a New Steroidogenesis Inhibitor for Cushing’s Syndrome Treatment.

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Racemic ketoconazole (RK) is a steroidogenesis inhibitor used for treatment of Cushing’s syndrome. Levoketoconazole (COR-003), the pure 2S,4R enantiomer, is potentially more potent and safe compared to RK. We compared […]

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C-C motif chemokine receptor 9 regulates obesity-induced insulin resistance via inflammation of the small intestine in mice.

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Accumulation of adipose tissue macrophages is considered pivotal in the development of obesity-associated inflammation and insulin resistance. In addition, recent studies suggest an involvement of the intestine as the primary […]

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A Set of Markers Related to Viral-Infection Has a Sex-sensitive Prognostic Value in Papillary Thyroid Carcinoma.

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Although the incidence of papillary thyroid carcinoma (PTC) is significantly higher in females than in males, the prognosis of male PTC is more unfavourable. However, the cause of higher malignancy […]

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Outcomes of Indeterminate Thyroid Nodules Managed Nonoperatively after Molecular Testing.

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Molecular testing to refine the diagnosis of cytologically indeterminate thyroid nodules has become increasingly popular, but data on long-term durability of test results and the rate of delayed operation are […]

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DNA methylation haplotype block markers efficiently discriminate follicular thyroid carcinoma from follicular adenoma.

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Follicular thyroid carcinoma (FTC) is the second most common type of thyroid carcinoma and must be pathologically distinguished from benign follicular adenoma (FA). Additionally, the clinical assessment of thyroid tumors […]

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Long-term efficacy and safety of gonadotropin-releasing hormone analog treatment in children with idiopathic central precocious puberty: a systematic review and meta-analysis.

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To investigate the long-term efficacy and safety of gonadotropin-releasing hormone analog (GnRHa) treatment in children with idiopathic central precocious puberty (CPP) METHOD: The protocol was registered with International Prospective Register […]

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A novel type of extreme insulin resistance: nonhypoglycaemic insulin autoimmune syndrome.

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Extreme insulin resistance is caused by genetic defects intersecting with the insulin action pathway or by the insulin receptor antibodies. Insulin autoimmune syndrome (IAS) is not considered one of the […]

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Early decline of androgen levels in healthy adult men: an effect of aging per se? A prospective cohort study.

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Androgen levels have been shown to decline in aging men. However, there is no consensus on the effect of aging, (changes in) BMI, lifestyle factors and intercurrent disease.Investigating longitudinal changes […]

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Distant metastases from childhood differentiated thyroid carcinoma: clinical course and mutational landscape.

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Distant metastases (DM) from childhood differentiated thyroid carcinoma (DTC) are uncommon and published studies are limited.To describe the outcomes of patients with DM from childhood DTC and to evaluate the […]

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Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations.

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Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP).To describe the clinical and hormonal features of a large […]

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A Panel of Six Biomarkers Significantly Improves the Prediction of Type 2 Diabetes in the MONICA/KORA Study Population.

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Improved strategies to identify persons at high risk of type 2 diabetes are important to target costly preventive efforts to those who will benefit most.To assess whether novel biomarkers improve […]

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TLR4-associated IRF-7 and NFĸB signaling acts as a molecular link between androgen and metformin activities and cytokine synthesis in the PCOS endometrium.

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Low-grade chronic inflammation is commonly seen in polycystic ovary syndrome (PCOS) patients with elevated levels of inflammatory cytokines in the endometrium. However, our understanding of the mechanisms underlying cytokine synthesis […]

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Plasmatic and urinary 5-hydroxyindolacetic acid measurements in patients with midgut neuroendocrine tumors: a GTE study.

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Although 24-hour urinary 5-hydroxyindolacetic acid (24u5HIAA) is a key biomarker in midgut neuroendocrine tumors (NET), it may be inaccurate and inconvenient. We compared the diagnostic performances of 24u5HIAA, overnight urinary […]

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Insulin-Stimulated Muscle Glucose Uptake and Insulin Signaling in Lean and Obese Humans.

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Skeletal muscle is the primary site for insulin-stimulated glucose disposal and muscle insulin resistance is central to abnormal glucose metabolism in obesity. Whether muscle insulin signaling to the level of […]

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Procoagulant imbalance in Klinefelter syndrome assessed by thrombin generation assay and whole blood thromboelastometry.

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Klinefelter syndrome (KS) is a condition at increased risk of thrombosis compared to 46,XY men.To investigate the coagulation balance of KS patients by thrombin generation assay (TGA) and thromboelastometry.Observational, cross-sectional […]

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Improving science by overcoming laboratory pitfalls with hormone measurements.

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Despite all effort taken, surprisingly little attention is often paid to hormone analyses involved in research studies. Thinking carefully about the quality of the hormone measurements in these studies is […]

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Reduced Muscle Strength Associates with Insulin Resistance in Type 2 Diabetes Patients with Osteoarthritis.

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Type 2 diabetes associates with greater risk for musculoskeletal disorders, yet its impact on joint function remains unclear.We hypothesized that patients with type 2 diabetes and osteoarthritis would exhibit musculoskeletal […]

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Targeted metabolomics as a tool in discriminating endocrine from primary hypertension.

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Identification of patients with endocrine forms of hypertension (EHT) (primary hyperaldosteronism [PA], pheochromocytoma/paraganglioma [PPGL] and Cushing syndrome [CS]) provides the basis to implement individualized therapeutic strategies. Targeted metabolomics (TM) have […]

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Limited genetic overlap between overt Hashimoto’s thyroiditis and Graves’ disease in twins: a population-based study.

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Hashimoto´s thyroiditis (HT) and Graves´ disease (GD) are known to co-aggregate in families, but the magnitude and nature of a shared etiology is unknown.To estimate the shared genetic influence on […]

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Pitfalls in RET fusion detection using break-apart FISH probes in papillary thyroid carcinoma.

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A standardized procedure of fused REarranged during Transfection (RET) gene detection using fluorescence in situ hybridization (FISH) remains to be established in papillary thyroid carcinoma (PTC). Our purpose was to […]

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Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome.

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Mitchell Riley syndrome (MRS) due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. RFX6 gene encodes a transcription factor involved in enteroendocrine cell differentiation required for […]

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Approach to the Patient with Primary Aldosteronism: Utility and Limitations of Adrenal Vein Sampling.

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Several studies over the past 3 decades document a higher prevalence of primary aldosteronism (PA) among hypertensive patients than generally presumed. PA exists as a spectrum from mild to severe […]

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Association of Cognitive Function and Retinal Neural and Vascular Structure in Type 1 Diabetes.

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Cognitive dysfunction is a growing and understudied public health issue in the aging type 1 diabetic population and is difficult and time-consuming to diagnose. Studies in long duration type 1 […]

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IGF-I/IGFBP3/ALS deficiency in sarcopenia: low GHBP suggests GH resistance in a subgroup of geriatric patients.

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Definition of etiological subgroups of sarcopenia may help to develop targeted treatments. Insulin like growth factor (IGF-I), IGF-binding protein 3 (IGFBP3) and acid labile subunit (ALS) build a ternary complex […]

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