Genotype-phenotype correlation in von Hippel-Lindau disease.

Background/aims: Retinal haemangioblastomas (RH) remain a major cause of visual impairment in patients with von Hippel-Lindau (VHL) disease. Identification of genotype-phenotype correlation is an important prerequisite for better management, treatment and prognosis.

Methods: Retrospective, single-centre cohort study of 200 VHL patients.

Differences in infection control and diagnostic measures for multidrug-resistant organisms in the tristate area of France, Germany and Switzerland in 2019 - survey results from the RH(E)IN-CARE network.

Background: Multidrug-resistant organisms (MDROs) are a public health threat. Single-centre interventions, however, are likely to fail in the long term, as patients are commonly transferred between institutions given the economic integration across borders. A transnational approach targeting larger regions is needed to plan overarching sets of interventions.

Insomnia disorder: clinical and research challenges for the 21st century.

Background And Purpose: Insomnia is a common and debilitating disorder that is frequently associated with important consequences for physical health and well-being.

Methods: An international expert group considered the current state of knowledge based on the most relevant publications in the previous 5 years, discussed the current challenges in the field of insomnia and identified future priorities.

Results: The association of trajectories of insomnia with subsequent quality of life, health and mortality should be investigated in large populations.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care.

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial β-oxidation. Confirmation diagnostics after newborn screening (NBS) can be performed either by enzyme testing and/or by sequencing of the ACADM gene. Here, we report the results from enzyme testing in lymphocytes with gene variants from molecular analysis of the ACADM gene and with the initial acylcarnitine concentrations in the NBS sample.

Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.

Objectives: The objective of our study was to conduct a systematic literature review of estimates of costs of illness of spinal muscular atrophy (SMA).

Methods: We searched MEDLINE (through PubMed), CINAHL, Embase, Web of Science, National Health Service Economic Evaluation Database, and the National Health Service Health Technology Assessment Database for studies published from inception up until 31 August, 2020, reporting direct medical, direct non-medical, and/or indirect costs of any phenotype of SMA. Two reviewers independently screened records for eligibility, extracted the data, and assessed studies for risk of bias using the Newcastle-Ottawa Scale.

Dual Role of Interleukin-10 in Murine NZB/W F1 Lupus.

As a key anti-inflammatory cytokine, IL-10 is crucial in preventing inflammatory and autoimmune diseases. However, in human and murine lupus, its role remains controversial. Our aim was to understand regulation and immunologic effects of IL-10 on different immune functions in the setting of lupus.

Feasibility of an Updated Randomised Controlled Trial on Surgical Urolithiasis Treatments: The Pilot Trial for the German Endoscopic versus Shock Wave Therapy Study (GESS).

Data comparing treatments for urolithiasis are often outdated, with inconsistent results or poor methodological and reporting quality. We report a pilot study in preparation for a larger multicentre randomised controlled trial (RCT) comparing shockwave therapy and ureteroscopy in patients with a single urinary stone of ≤20 mm in the upper urinary tract. Primary objectives included screening completeness, patients' willingness to participate, their remaining in the study, the suitability of the eligibility criteria, and the acceptability of the outcome measures.

Three successful pregnancies in a patient with glycogen storage disease type 0.

Glycogen storage disease type 0 (GSD 0) is a rare inborn error of metabolism due to deficiency of the enzyme glycogen synthase (EC 2.4.1.

Citrin deficiency mimicking mitochondrial depletion syndrome.

Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane.

Case Presentation: We report on two siblings of Romanian-Vietnamese ancestry with citrin deficiency.

Surgery for IDH1/2 wild-type glioma invading the corpus callosum.

Background: Glioblastoma of the corpus callosum (ccGBM) are rare tumors, with a dismal prognosis marked by a rapid clinical deterioration. For a long time, surgical treatment was not considered beneficial for most patients with such tumors. Recent studies claimed an improved survival for patients undergoing extensive resection, albeit without integration of the molecular profile of the lesions.

Comparison of Speech Recognition and Localization Ability in Single-sided Deaf Patients Implanted With Different Cochlear Implant Electrode Array Designs.

Objective: Choice of electrode array (EA) design and differences in outcome are major concerns both to patients with single-sided deafness (SSD) and to surgeons before cochlear implant (CI) surgery. The present work investigates the effects of EA design on 1) insertion depths, and 2) audiological outcomes of SSD CI recipients.

Study Design: Retrospective study.

Fear of sleep and trauma-induced insomnia: A review and conceptual model.

Trauma-induced insomnia is a symptom of posttraumatic stress disorder (PTSD), and is reported to be particularly distressing and often persists even after remission of the core symptoms of PTSD. Recently, it has been suggested that fear of sleep plays an important role in the development and maintenance of trauma-induced insomnia. The aim of this review is to propose a conceptual model of fear of sleep as a maintaining factor of trauma-induced insomnia.

Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study.

Background: Patients with rare diseases (RDs) are often diagnosed too late or not at all. Clinical decision support systems (CDSSs) could support the diagnosis in RDs. The MIRACUM (Medical Informatics in Research and Medicine) consortium, which is one of four funded consortia in the German Medical Informatics Initiative, will develop a CDSS for RDs based on distributed clinical data from ten university hospitals.

Characterization of longitudinal transformation of T2-hyperintensity in oligodendroglioma.

Background: Oligodendroglioma (ODG) are CNS resistant tumors characterized by their unique molecular signature, namely a combined deletion of 1p and 19q simultaneously to an IDH1/2 mutation. These tumors have a more favorable clinical outcome compared to other gliomas and a long-time survival that ranges between 10 and 20 years. However, during the course of the disease, multiple recurrences occur and the optimal treatment at each stage of the disease remains unclear.

Medication-related osteonecrosis of the mandible: an unusual presentation and treatment.

A 71-year-old woman was referred to the clinic with extensive medication-related osteonecrosis of the jaw (MRONJ) involving the mandible. She had received 7 years of zoledronate therapy. On cone beam computed tomography, the MRONJ presented as a large sequestrum spanning from the left to the right condylar process, surrounded by thick sub-periosteal bone.

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

Background: Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropenia and neutrophil dysfunction causing serious infections, inflammatory bowel disease, oral, urogenital and perianal lesions as well as impaired wound healing. Recently, SGLT2 inhibitors such as empagliflozin that reduce the plasma levels of 1,5-anhydroglucitol have been described as a new treatment option for the neutropenia and neutrophil dysfunction in patients with GSD Ib.

HIF-1α and HIF-2α differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice.

Mutational inactivation of VHL is the earliest genetic event in the majority of clear cell renal cell carcinomas (ccRCC), leading to accumulation of the HIF-1α and HIF-2α transcription factors. While correlative studies of human ccRCC and functional studies using human ccRCC cell lines have implicated HIF-1α as an inhibitor and HIF-2α as a promoter of aggressive tumour behaviours, their roles in tumour onset have not been functionally addressed. Herein we show using an autochthonous ccRCC model that Hif1a is essential for tumour formation whereas Hif2a deletion has only minor effects on tumour initiation and growth.

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

The identification of disease alleles underlying human autoinflammatory diseases can provide important insights into the mechanisms that maintain neutrophil homeostasis. Here, we focused our attention on generalized pustular psoriasis (GPP), a potentially life-threatening disorder presenting with cutaneous and systemic neutrophilia. Following the whole-exome sequencing of 19 unrelated affected individuals, we identified a subject harboring a homozygous splice-site mutation (c.

Patient satisfaction & use of health care: a cross-sectional study of asylum seekers in the Freiburg initial reception centre.

Background: In response to a high number of incoming asylum seekers and refugees (AS&R) in Germany, initial reception centres were established to provide immediate shelter, food and health support. This study evaluates the satisfaction with and use of the health care available at the Freiburg initial reception centre (FIRC) where an integrated health care facility (ICF) was set up in 2015.

Methods: We assessed use and satisfaction with health services available to resident AS&R within and outside the FIRC in a cross-sectional design.

Psychological interventions to improve sleep in college students: A meta-analysis of randomized controlled trials.

Sleep disturbances and insomnia are common in college students, and reduce their quality of life and academic performance. The aim of this meta-analysis was to evaluate the efficacy of psychological interventions aimed at improving sleep in college students. A meta-analysis was conducted with 10 randomized controlled trials with passive control conditions (N = 2,408).