Maurer dm

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...

BACKGROUND: 5-Aminovaleric acid betaine (5-AVAB) has recently been identified as a diet and microbial-dependent factor inducing obesity and hepatic steatosis in mice fed a Western diet. Accumulating evidence suggests a role in metabolic dysfunction associated with obesity, diabetes, and fatty liver disease. However, whether 5-AVAB plays a role in human disease is unclear, and human data are sparse. METHODS: We measured circulating 5-AVAB serum levels in 143 individuals with overweight or obesity participating in a randomized intervention study (NCT00850629) investigating the long-term effect of a weight maintenance strategy after diet-induced weight reduction...

OBJECTIVES: To compare clinical characteristics, including the frequency of cutaneous, extramuscular manifestations, and malignancy, between adults with anti-synthetase syndrome (ASyS) and dermatomyositis (DM). METHODS: Using data regarding adults from the MYONET registry, a cohort of DM patients with anti-Mi2/-TIF1ɣ/-NXP2/-SAE/-MDA5 autoantibodies, and a cohort of ASyS patients with anti-tRNA synthetase autoantibodies (anti-Jo1/-PL7/-PL12/-OJ/-EJ/-Zo/-KS) were identified...

INTRODUCTION: Invasive listeriosis most often presents as bacteremia or neurolisteriosis. Cerebral infection mostly manifests as meningitis or meningoencephalitis, but cerebral abscesses are a rare manifestation. CASE PRESENTATION: We present the rare case of a 51-year old patient with progressive right sided hemiparesis caused by a cerebral abscess due to Listeria monocytogenes infection. The initially suspected cerebral ischemia or bleeding was ruled out. Magnetic resonance imaging led to the suspected diagnosis of an angiocentric lymphoma...

Limited English Proficiency (LEP) is defined as individuals in whom English is not the primary language and who have limited ability to read, speak, write, or understand the English language. Cardiovascular (CV) team members routinely encounter language barriers in their practice. These barriers have a significant impact on the quality of CV care that patients with LEP receive. Despite evidence demonstrating the negative association between language barriers and health disparities, the impact on CV care is insufficiently known...

Background: Catheter ablation for atrial fibrillation (AF) or left atrial tachycardia is well established. To avoid body movement and pain, sedative and analgesic agents are used. Objective: The aim was to investigate safety of sedation/anti-pain protocol administered by electrophysiology (EP) staff. Methods: A total of 3211 consecutive patients (61% male) undergoing left atrial ablation for paroxysmal AF (37.1%), persistent AF (35.3%) or left atrial tachycardia (27...

Dermatomyositis (DM) is an inflammatory multisystem disease of unknown etiology, which can already occur in children but first onset can also be in older adulthood. Myalgia and muscle weakness can occur later in the course of the disease or even be completely absent in some forms. Classical signs on the skin include heliotrope rash, facial erythema, Gottron's papules and nailfold capillary abnormalities. For the diagnosis, screening for the presence of myositis-specific autoantibodies has become increasingly more relevant...

Diabetic foot infection is a frequent complication in long-standing diabetes mellitus. For antimicrobial therapy of this infection, both the optimal duration and the route of administration are often based more on expert opinion than on published evidence. We reviewed the scientific literature, specifically seeking prospective trials, and aimed at addressing two clinical issues: (1) shortening the currently recommended antibiotic duration and (2) using oral (rather than parenteral) therapy, especially after the patient has undergone debridement and revascularization...

BACKGROUND AND OBJECTIVES: Nodo-paranodopathies are peripheral neuropathies with dysfunction of the node of Ranvier. Affected patients who are seropositive for antibodies against adhesion molecules like contactin-1 and neurofascin show distinct clinical features and a disruption of the paranodal complex. An axoglial dysjunction is also a characteristic finding of diabetic neuropathy. Here, we aim to investigate a possible association of antibody-mediated nodo-paranodopathy and diabetes mellitus (DM)...

Infection with gastro-intestinal nematodes (GIN) seriously impairs productivity and health of grazing animals. Due to the considerable rise in anthelmintic resistance and the increasing popularity of organic farming, alternative control strategies will replace or complement traditional anthelmintics. The efficacy of two potential alternatives (i) feeding the tanniferous forage heather (Calluna vulgaris) and (ii) the nematophagous fungus Duddingtonia flagrans (isolate FiBL-DF-P14), was tested in a feeding experiment with lambs artificially infected with Haemonchus contortus...

INTRODUCTION: Outcomes of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with pre-existing idiopathic pulmonary fibrosis (IPF) remain understudied, and it is unknown if IPF is an independent predictor of worse disease course. Herein, we report the clinical outcomes in a large cohort of 251 patients with COVID-19 in the setting of known IPF. Outcomes were compared with a propensity matched cohort of patients with COVID-19 without IPF. METHODS: Analysis of a federated multicentre research network TriNetX was performed including patients more than 16 years of age diagnosed with SARS-CoV-2 infection...

OBJECTIVE: This study aims to investigate the correlation between spinopelvic parameters in supine position (pelvic incidence (PI), sacral slope (SS), pelvic tilt (PT), lumbar lordosis (LL)), disc degeneration and herniation of the thoracolumbar spine, as well as cardiovascular risk factors and back pain in a southern German cohort from the general population. METHODS: This study is a cross-sectional, case-control study drawn from a prospective cohort of the "Cooperative Health Research in the Region of Augsburg/Kooperative Gesundheitsforschung in der Region Augsburg" study (KORA)...

BACKGROUND: Mutations in ITCH, which encodes an E3 ubiquitin-protein ligase, can result in systemic autoimmunity and immunodeficiency. The clinical phenotype and mechanism of disease have not been fully characterized, resulting in a paucity of therapeutic options for this potentially fatal disease. OBJECTIVE: We aimed to (1) expand the understanding about the phenotype of human ITCH deficiency (2) further characterize the associated immune dysregulation, and (3) report the first successful hematopoietic cell transplant (HCT) in a patient with ITCH deficiency...

In this issue of Journal of Neuro-Ophthalmology, M. Tariq Bhatti, MD, and Mark L. Moster, MD will discuss the following 6 articles: Li L, Dmytriw AA, Krings T, Feng Y, Jiao L. Visualization of the human intracranial vasa vasorum in vivo using optical coherence tomography. JAMA Neurol. 2020;77:903-905.Lee KE, Zehri A, Soldozy S, Syed H, Catapano JS, Maurer R, Albuquerque FC, Liu KC, Wolfe SQ, Brown S, Levitt MR, Fargen KM. Dural venous sinus stenting for treatment of pediatric idiopathic intracranial hypertension...

The growing population of older adults (age ≥65 years) is expected to lead to higher rates of cardiovascular disease. The expansion of digital health (encompassing telehealth, telemedicine, mobile health, and remote patient monitoring), Internet access, and cellular technologies provides an opportunity to enhance patient care and improve health outcomes-opportunities that are particularly relevant during the current coronavirus disease-2019 pandemic. Insufficient dexterity, visual impairment, and cognitive dysfunction, found commonly in older adults should be taken into consideration in the development and utilization of existing technologies...

OBJECTIVE: It is increasingly common to find patients affected by a combination of type 2 diabetes mellitus (T2DM), dyslipidemia (DLP) and periodontitis (PD), which are chronic inflammatory diseases. More studies able to capture unknown relationships among these diseases will contribute to raise biological and clinical evidence. The aim of this study was to apply association rule mining (ARM) to discover whether there are consistent patterns of clinical features (CFs) and differentially expressed genes (DEGs) relevant to these diseases...

BACKGROUND: Patient-reported outcome measures (PROMs) are gaining increasing importance in the context of quality management. Different PROMs and scoring tools are available to assess shoulder function after proximal humeral fracture (PHFx). In Europe, these include the Constant-Murley Score (CS), Neer Score (NS), Oxford Shoulder Score (OSS), University of California at Los Angeles Score (UCLA) and Disabilities of the Arm, Shoulder and Hands Score (DASH). In addition, the health-related quality of life can be assessed by the PROMs Short Form 36 (SF-36) and EuroQol (EQ-5D)...

BACKGROUND: To assess hybrid positron emission tomography (PET) imaging in the initial staging and outcome prediction of sinonasal malignancies. METHODS: Retrospective study on patients with sinonasal malignancies undergoing hybrid PET imaging for initial staging. RESULTS: Complete remission (CR) was achieved in 45 of 65 patients (69.2%). Overall sensitivity for detection of primaries using 18F-fluoro-deoxy-d-glucose PET (FDG-PET) was 95.4%, for lymph node metastases 100% and distant metastases (DM) 100%...

To propose a correlation between polyneuropathy and ATTRwt based on retrospective analysis of patients with ATTRwt. We reviewed 151 ATTRwt patients followed by the amyloid cardiac clinic (group A) for symptoms of neuropathy and 12 patients with ATTRwt evaluated in the Neurology Department (group B) with objective measures of neuropathy. Medical history, electrodiagnosis, laboratory and skin biopsies were assessed; 30.5% of group A had neuropathy symptoms. Alternative explanations for neuropathy symptoms were explored, including, age, gender, BMI, diabetes mellitus, B12 deficiency...

Type 2 diabetes mellitus (T2DM), dyslipidemia and periodontitis are frequently associated pathologies; however, there are no studies showing the peripheral blood transcript profile of these combined diseases. Here we identified the differentially expressed genes (DEGs) of circulating lymphocytes and monocytes to reveal potential biomarkers that may be used as molecular targets for future diagnosis of each combination of these pathologies (compared to healthy patients) and give insights into the underlying molecular mechanisms of these diseases...