Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.

Background: Severe hypertriglyceridemia (HTG) has predominantly multifactorial causes (MCS). Yet a small subset of patients have the monogenetic form (FCS). It remains a challenge to distinguish patients clinically, since decompensated MCS might mimic FCS´s severity.

Long-term lipoprotein apheresis reduces cardiovascular events in high-risk patients with isolated lipoprotein(a) elevation.

Background: Elevated lipoprotein(a) (Lp(a)) is an established risk factor for cardiovascular disease (CVD). To date, the only approved treatment to lower Lp(a) is lipoprotein apheresis (LA). Previous studies have demonstrated that LA is effective in reducing cardiovascular (CV) risk in patients with elevated low-density lipoprotein cholesterol (LDL-C) and/or Lp(a).

A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome.

Objective: Determining the cause of severe insulin resistance and early-onset diabetes in the case of a young woman in which a wide range of differential diagnoses did not apply.

Research Design And Methods: Diagnostic workup including medical history, physical examination, specialist consultations, imaging methods, laboratory assessment, and genetic testing carried out by next-generation panel sequencing.

Results: After ruling out several differential diagnoses, genetic testing revealed a previously unknown homozygous variant within the canonical splice site of intron 4 in the WRN gene classified as pathogenic.

A prospective observational study of post-COVID-19 chronic fatigue syndrome following the first pandemic wave in Germany and biomarkers associated with symptom severity.

A subset of patients has long-lasting symptoms after mild to moderate Coronavirus disease 2019 (COVID-19). In a prospective observational cohort study, we analyze clinical and laboratory parameters in 42 post-COVID-19 syndrome patients (29 female/13 male, median age 36.5 years) with persistent moderate to severe fatigue and exertion intolerance six months following COVID-19.

[Diagnostics and treatment of statin-associated muscle symptoms].

Statins are among the most frequently prescribed drugs in Germany. Their benefits in lowering cardiovascular risk are beyond dispute. Nevertheless, many patients complain of side effects from statin therapy, including statin-associated muscle symptoms (SAMS) in particular.

Treatment with PCSK9 inhibitors induces a more anti-atherogenic HDL lipid profile in patients at high cardiovascular risk.

Background: Proprotein Convertase Subtilisin/Kexin type 9 inhibitors (PCSK9-I) have been reported to cause a moderate increase in high-density lipoprotein (HDL) cholesterol in human studies. We thus evaluated the effect of two approved PCSK9-I on the concentration and lipid composition of HDL particle subclasses.

Subjects And Methods: 95 patients (62.

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Autosomal-dominant familial hypercholesterolemia (FH) is characterized by increased plasma concentrations of low-density lipoprotein cholesterol (LDL-C) and a substantial risk to develop cardiovascular disease. Causative mutations in three major genes are known: the LDL receptor gene (LDLR), the apolipoprotein B gene (APOB) and the proprotein convertase subtilisin/kexin 9 gene (PCSK9). We clinically characterized 336 patients suspected to have FH and screened them for disease causing mutations in LDLR, APOB, and PCSK9.

Obesity and pituitary gland volume - a correlation study using three-dimensional magnetic resonance imaging.

Purpose: Obesity has become a major health problem and is associated with endocrine disorders and a disturbed hypothalamic-pituitary axis. The purpose of this study was to correlate pituitary gland volume determined by routine magnetic resonance imaging with patient characteristics, in particular body mass index and obesity.

Material And Methods: A total of 144 'healthy' patients with normal findings in cerebral magnetic resonance imaging were retrospectively included.

PCSK9 Inhibitors in a German Single-Center Clinical Practice: Real-World Treatment of Patients at High Cardiovascular Risk Over 68 Weeks.

Aims: Several the use of proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) for patients at high/very high cardiovascular risk who are inadequately treated with maximally tolerated lipid-lowering therapies (LLTs).

Objectives: We assessed the effectiveness and safety of the PCSK9i alirocumab and evolocumab in a single-center clinical practice for up to 68 weeks.

Methods: In this prospective, open-label study conducted in Germany, 635 enrolled patients were treated with alirocumab [75 or 150 mg every 2 weeks (Q2W)] or evolocumab (140 mg Q2W) according to European Society of Cardiology/European Atherosclerosis Society guidelines (low-density lipoprotein cholesterol [LDL-C] > 1.

Hypoxia and exercise interactions on skeletal muscle insulin sensitivity in obese subjects with metabolic syndrome: results of a randomized controlled trial.

Background: Physical activity improves insulin sensitivity in obesity. Hypoxia training is claimed to augment this effect. We tested the hypothesis that normobaric hypoxia training would improve insulin sensitivity in obese patients with metabolic syndrome.

Comparing skin characteristics and molecular markers of xerotic foot skin between diabetic and non-diabetic subjects: An exploratory study.

Background: Xerosis cutis of the feet is one of the most common skin conditions among type 2 diabetics. Whether skin dryness among diabetic patients is different from 'general' skin dryness is unclear. The overall aim was to compare the structure, function and molecular markers of dry and cracked foot skin between diabetics and non-diabetics.

Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. The autosomal-dominant FH is mostly caused by mutations in LDLR (low density lipoprotein receptor), APOB (apolipoprotein B), and PCSK9 (proprotein convertase subtilisin/kexin). Recently, STAP1 has been suggested as a fourth causative gene.

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report.

We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A () gene resulting in cholesteryl ester accumulation in liver, spleen, and macrophages. It can lead to liver failure, accelerated atherosclerosis and premature death.

Interactions between neural decision-making circuits predict long-term dietary treatment success in obesity.

Although dietary decision-making is regulated by multiple interacting neural controllers, their impact on dietary treatment success in obesity has only been investigated individually. Here, we used fMRI to test how well interactions between the Pavlovian system (automatically triggering urges of consumption after food cue exposure) and the goal-directed system (considering long-term consequences of food decisions) predict future dietary success achieved in 39 months. Activity of the Pavlovian system was measured with a cue-reactivity task by comparing perception of food versus control pictures, activity of the goal-directed system with a food-specific delay discounting paradigm.

Effects of a combined dietary, exercise and behavioral intervention and sympathetic system on body weight maintenance after intended weight loss: Results of a randomized controlled trial.

Background: Lifestyle based weight loss interventions are hampered by long-term inefficacy. Prediction of individuals successfully reducing body weight would be highly desirable. Although sympathetic activity is known to contribute to energy homeostasis, its predictive role in body weight maintenance has not yet been addressed.

Clinical and neurobiological effects of aerobic exercise in dental phobia: A randomized controlled trial.

Background: Physical activity has shown to be effective in anxiety disorders. For specific phobia, no studies are available that systematically examined the effects of an aerobic exercise intervention on phobic fear within a randomized-controlled design. Therefore, we investigated the acute effect of a standardized aerobic training on clinical symptoms of dental phobia as well as on stress-related neurobiological markers.

Renal function is independently associated with circulating betatrophin.

Objective: Betatrophin has been identified as a marker linking liver with beta cell function and lipid metabolism in murine models. Until now, the regulation of circulating betatrophin in humans is not entirely clear. We here analyzed the relation of betatrophin levels to phenotypes of the metabolic syndrome and speculated that renal function might influence circulating betatrophin levels and explain age-dependent changes of betatrophin.

Weight Loss Partially Restores Glucose-Driven Betatrophin Response in Humans.

Context: Recently a potential role of betatrophin was shown in the postprandial switch from lipid to glucose metabolism.

Objective: The objective of the study was to analyze whether obesity is associated with altered postprandial betatrophin response and whether this could be restored by weight loss. Design, Setting, Participants, and Intervention: Oral glucose load was performed in 12 lean individuals at baseline as well as in 20 obese subjects before and after a 12-week structured weight-loss program at an endocrinology research center.

ANP system activity predicts variability of fat mass reduction and insulin sensitivity during weight loss.

Introduction: In weight loss trials, a considerable inter-individual variability in reduction of fat mass and changes of insulin resistance is observed, even under standardized study conditions. The underlying mechanisms are not well understood. Given the metabolic properties of the atrial natriuretic peptide (ANP) system, we hypothesized that ANP signaling might be involved in this phenomenon by changes of ANP secretion or receptor balance.

Chemerin and prediction of Diabetes mellitus type 2.

Objective: Insulin resistance and subclinical inflammation are characteristics in the development of type 2 diabetes mellitus (T2DM). The adipokine chemerin has been associated with both factors. The aim of this study was to analyse whether chemerin predicts T2DM.

Effect of combined cognitive-behavioural therapy and endurance training on cortisol and salivary alpha-amylase in panic disorder.

Current data point to an alteration of both the hypothalamo-pituitary-adrenal (HPA)-system and the peripheral transmission of catecholamines in anxiety disorders. There is also some evidence for the effect of several components of cognitive-behavioural interventions such as coping and control and for an effect of exercise training on the neuroendocrine stress response in healthy subjects as well as patients suffering from distinct (mental) disorders. This double-blind, controlled study investigated the effect of cognitive-behavioural therapy (CBT) in combination with either high-level endurance training or low-level exercise on salivary cortisol (sC) and on levels of salivary alpha-amylase (sAA) in patients suffering from panic disorder (PD) with and without agoraphobia.

Hepatic insulin clearance is closely related to metabolic syndrome components.

Objective: Insulin clearance is decreased in type 2 diabetes mellitus (T2DM) for unknown reasons. Subjects with metabolic syndrome are hyperinsulinemic and have an increased risk of T2DM. We aimed to investigate the relationship between hepatic insulin clearance (HIC) and different components of metabolic syndrome and tested the hypothesis that HIC may predict the risk of metabolic syndrome.

Postmenopausal women have an increased maximal platelet reactivity compared to men despite dual antiplatelet therapy.

Dual antiplatelet medication with acetylsalicylic acid (ASA) and clopidogrel is the main therapy for patients with stable coronary vessel disease (CVD) after percutaneous coronary intervention (PCI). Despite platelet inhibition subgroups of patients have been shown to exhibit an increase of risk for adverse cardiovascular events. The aim of our study was to elucidate the influence of sex on platelet reactivity in patients with CVD under medication with ASA and clopidogrel.

Fibroblast growth factor 21 predicts the metabolic syndrome and type 2 diabetes in Caucasians.

Objective: The incidence of the metabolic syndrome and type 2 diabetes mellitus (T2DM) is rising worldwide. Liver-derived fibroblast growth factor (FGF)-21 affects glucose and lipid metabolism. The aim of this study was to analyze the predictive value of FGF-21 on the incidence of T2DM and the metabolic syndrome.