Enhancing primary newborn screening efficiency for congenital adrenal hyperplasia with LC-MS/MS/MS.

Background: Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) by immunoassay (IA) suffers from analytical limitations like cross reactivity and matrix effects. Alternative tandem-mass spectrometric approaches are not suitable for high-throughput screening due to long analysis times. In this study, a rapid 1.

Differences in metabolic adaptations during mid and late pregnancy: a comparative cohort study between Rwanda and Germany.

Background: While cross-ancestral differences in glucose and lipid metabolism are widely reported in adults, there is a paucity of data on pregnant women during various stages of pregnancy. There is no consensus on what defines normal lipid ranges during pregnancy. Establishing reference ranges is crucial to reduce the risk of missing associated maternal and fetal health issues.

Novel and established biomarkers to complement risk scores in patients with acute decompensated heart failure - a pilot study.

Study Objective: There are several risk scores for mortality in patients with acute decompensated heart failure (ADHF) such as the European Collaboration on Acute Decompensated Heart Failure Score (ELAN-HF Score), the ADHF/NT-proBNP-Score or A2B-Score (age, anemia, BNP). The aim of this study was to evaluate the predictive value of such risk scores with and without addition of novel cardiorenal biomarkers.

Design & Setting: Single-center, exploratory prospective cohort study at the University Hospital Heart Centre Brandenburg.

Association of Lifestyle-Induced Weight Loss With Gene Expression in Subcutaneous Adipose Tissue in Metabolic Syndrome.

Aims: Lifestyle-induced weight loss (LIWL) is considered an effective therapy for the treatment of metabolic syndrome (MetS). The role of differentially expressed genes (DEGs) in adipose tissue function and in the success of LIWL in MetS is still unclear. We investigated the effect of 6 months of LIWL on transcriptional regulation in subcutaneous adipose tissue (SAT).

Pediatric reference values of VEGF-D derived from a German population-based cohort of healthy children.

Background: Vascular endothelial growth factor D (VEGF-D) is a growth-factor involved in the development of blood vessels and lymphatics in tissues all over the human body. Interestingly, VEGF-D serum levels are increased in certain tumor entities. For tuberous sclerosis complex (TSC), a rare genetic disease associated with (benign) tumor growth, VEGF-D is already implemented as a diagnostic and therapeutic biomarker to monitor onset and progress of lymphangioleiomyomatosis (LAM), one of the noncancerous tumor manifestations in mainly female adult TSC patients.

Deceased donor urinary Dickkopf-3 associates with future allograft function following kidney transplantation.

Predicting future kidney allograft function is challenging. Novel biomarkers, such as urinary Dickkopf-3 (uDKK3), may help guide donor selection and improve allograft outcomes. In this prospective multicenter pilot trial, we investigated whether donor uDKK3 reflects organ quality and is associated with future allograft function.

Obesity Is Associated with Increased 11-Oxyandrogen Serum Concentrations during Puberty.

Introduction: While the influence of various factors on classical androgen synthesis in children and adolescents and its impact on puberty has been widely investigated, there appear to be gaps and contradictory findings regarding the association of overweight and obesity with the synthesis of adrenal-derived 11-oxygenated androgen (11-OA) serum levels. With this study, we aimed to examine how overweight and obesity affect 11-OA serum levels during puberty in a large cohort of children and adolescents.

Methods: Our cohort comprised 1,054 healthy children aged 6-19 years providing serum samples at a total of 1,734 visits.

Cytokine and Microbiome Changes in Adolescents with Anorexia Nervosa at Admission, Discharge, and One-Year Follow-Up.

Anorexia nervosa (AN) is a severe eating disorder that predominantly affects females and typically manifests during adolescence. There is increasing evidence that serum cytokine levels are altered in individuals with AN. Previous research has largely focused on adult patients, assuming a low-grade pro-inflammatory state.

Fat tissue quantity, waist circumference or waist-to-hip ratio in patients with chronic kidney disease: A systematic review and meta-analysis.

The BMI predicts mortality and cardiovascular disease (CVD) in the general population, while in patients with end-stage chronic kidney disease (CKD) a high BMI is associated with improved survival, a phenomenon referred to as the "obesity paradox". While BMI is easy to determine and helps to categorize patients, it does not differentiate between fat tissue, lean tissue and bone mass. As the BMI may be altered in CKD, e.

The mitochondrial protease PARL is required for spermatogenesis.

Mitochondrial function plays an important role in the maintenance of male fertility. However, the mechanisms underlying mitochondrial defect-related infertility remain mostly unclear. Here we show that a deficiency of PARL (Parl), a mitochondrial protease, causes complete arrest of spermatogenesis during meiosis I.

False-positive results for pheochromocytoma associated with norepinephrine reuptake blockade.

Measurements of plasma metanephrines and methoxytyramine provide a sensitive test for diagnosis of pheochromocytoma/paraganglioma. False-positive results remain a problem, particularly in patients taking norepinephrine reuptake-blocking drugs. Therefore, in this retrospective observational study, we measured plasma metanephrines and methoxytyramine in 61 patients taking norepinephrine reuptake blockers (tricyclic antidepressants or serotonin-norepinephrine reuptake inhibitors) and 17 others taking selective serotonin reuptake inhibitors, all without pheochromocytoma/paraganglioma.

Low BAU/ml values with 4 of 5 SARS CoV-2 spike-specific monoclonal antibodies in the Roche Elecsys antibody assay.

Background: The Abbott SARS-CoV-2 IgG Quant II assay and the Roche Elecsys double antigen sandwich (DAgS) immunoassay measure SARS-CoV-2 receptor binding domain (RBD)-specific antibodies in serum samples in different ways. The IgG Quant II assay uses an antigen in combination with a secondary antibody and the DAgS assay uses two antigens. The aim of the study was to investigate whether the assays give comparable results with monoclonal antibodies.

Sex-dependent clinical presentation, body image, and endocrine status in long-term remitted anorexia nervosa.

Objective: Although anorexia nervosa (AN) in males has recently gained attention, knowledge of its psychological and physiological outcomes is still scarce. We explore sex-specific characteristics of long-term remitted AN with respect to residual eating disorder (ED) psychopathology, body image, and endocrinology.

Method: We recruited 33 patients with AN in remission for at least 18 months (24 women, 9 men) and 36 matched healthy controls (HCs).

Correction: Gupta et al. Neutrophil Extracellular Traps Promote NLRP3 Inflammasome Activation and Glomerular Endothelial Dysfunction in Diabetic Kidney Disease. 2022, , 2965.

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Sex hormones associated with temporomandibular pain on palpation in male adolescents-Results of the epidemiologic LIFE child study.

Objective: This study aimed to investigate whether the sex steroid precursor hormone dehydroepiandrosterone sulphate (DHEA-S), sex hormone-binding globulin (SHBG) and testosterone (TT) are associated with temporomandibular (TM) pain on palpation in male adolescents.

Methods: Out of the LIFE Child study dataset containing 1022 children and adolescents aged 10-18 years (496 males, 48.5%), we used a subsample of 273 male adolescents (mean age: 13.

Associations between vitamin D, immunoglobulin E concentrations, and obesity.

The prevalence of allergies and obesity has been increased in parallel. Low vitamin D [25(OH)D] levels have been linked to both higher body mass index (BMI) and allergies. Since the activation of the 25(OH)D receptor inhibits IgE production and 25(OH)D influences the IgE response specifically, we tested the hypothesis that circulating 25(OH)D concentrations are negatively related to circulating allergen-specific IgE concentrations distinctly in a large adult population-based study cohort.

Germ Cell Maintenance and Sustained Testosterone and Precursor Hormone Production in Human Prepubertal Testis Organ Culture with Tissues from Boys 7 Years+ under Conditions from Adult Testicular Tissue.

Human prepubertal testicular tissues are rare, but organ culture conditions to develop a system for human in vitro-spermatogenesis are an essential option for fertility preservation in prepubertal boys subjected to gonadotoxic therapy. To avoid animal testing in line with the 3Rs principle, organ culture conditions initially tested on human adult testis tissue were applied to prepubertal samples ( = 3; patient ages 7, 9, and 12 years). Tissues were investigated by immunostaining and transmission electron microscopy (TEM), and the collected culture medium was profiled for steroid hormones by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Inclusion of 11-Oxygenated Androgens in a Clinical Routine LC-MS/MS Setup for Steroid Hormone Profiling.

11-Oxygenated androgens (11-OAs) are being discussed as potential biomarkers in diagnosis and therapy control of disorders with androgen excess such as congenital adrenal hyperplasia and polycystic ovary syndrome. However, quantification of 11-OAs by liquid chromatography-tandem mass spectrometry (LC-MS/MS) still relies on extensive sample preparation including liquid-liquid extraction, derivatization and partial long runtimes, which is unsuitable for high-throughput analysis under routine laboratory settings. For the first time, an established online-solid-phase extraction-LC-MS/MS (online-SPE-LC-MS/MS) method for the quantitation of seven serum steroids in daily routine use was extended and validated to include 11-ketoandrostenedione, 11-ketotestosterone, 11β-hydroxyandrostenedione and 11β-hydroxytestosterone.

CD248 induces a maladaptive unfolded protein response in diabetic kidney disease.

Dysfunction of mesangial cells plays a major role in the pathogenesis of diabetic kidney disease (DKD), the leading cause of kidney failure. However, the underlying molecular mechanisms are incompletely understood. By unbiased gene expression analysis of glucose-exposed mesangial cells, we identified the transmembrane receptor CD248 as the most upregulated gene, and the maladaptive unfolded protein response (UPR) as one of the most stimulated pathways.

Lower serum levels of IL-1β and IL-6 cytokines in adolescents with anorexia nervosa and their association with gut microbiota in a longitudinal study.

Introduction: Anorexia nervosa (AN) is an often chronic and debilitating psychiatric disease whose etiology is not completely understood. Recently, a potential role of inflammation has emerged in other psychiatric diseases, such as depression, PTSD and schizophrenia. The first results in adults with AN seemed to confirm a low-grade proinflammatory state until recent studies presented more differential findings.