Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease.

Background: No results of controlled trials are available for any of the few treatments offered to children with interstitial lung diseases (chILD). We evaluated hydroxychloroquine (HCQ) in a phase 2, prospective, multicentre, 1:1-randomized, double-blind, placebo-controlled, parallel-group/crossover trial. HCQ (START arm) or placebo were given for 4 weeks.

Left Atrial Cardiomyopathy - A Challenging Diagnosis.

Left atrial cardiomyopathy (LACM) has been an ongoing focus of research for several years. There is evidence that LACM is responsible for atrial fibrillation and embolic strokes of undetermined sources. Therefore, the correct diagnosis of LACM is of clinical importance.

Propionic acid beneficially modifies osteoporosis biomarkers in patients with multiple sclerosis.

Background: The impact of the gut and its microbiota are increasingly appreciated in health and disease. Short-chain fatty acids (SCFAs) are among the main metabolites synthesized from bacterial fermentation. Recently, we showed the anti-inflammatory and potentially neuroprotective effect of propionic acid (PA) in multiple sclerosis (MS).

Divergent Effects of the Nonselective Adenosine Receptor Antagonist Caffeine in Pre-Manifest and Motor-Manifest Huntington's Disease.

There is a controversy about potentially positive or negative effects of caffeine consumption on onset and disease progression of neurodegenerative diseases such as Huntington’s Disease (HD). On the molecular level, the psychoactive drug caffeine targets in particular adenosine receptors (AR) as a nonselective antagonist. The aim of this study was to evaluate clinical effects of caffeine consumption in patients suffering from premanifest and motor-manifest HD.

Quality assessment of optic nerve sheath diameter ultrasonography: Scoping literature review and Delphi protocol.

Background And Purpose: The optic nerve is surrounded by the extension of meningeal coverings of the brain. When the pressure in the cerebrospinal fluid increases, it causes a distention of the optic nerve sheath diameter (ONSD), which allows the use of this measurement by ultrasonography (US) as a noninvasive surrogate of elevated intracranial pressure. However, ONSD measurements in the literature have exhibited significant heterogeneity, suggesting a need for consensus on ONSD image acquisition and measurement.

Resurrection of sildenafil: potential for Huntington's Disease, too?

The phosphodiesterase-5 inhibitor sildenafil was postulated to reduce the risk for Alzheimer's Disease. Since preclinical data revealed beneficial effects in Huntington's Disease (HD), we now for the first time investigated effects of sildenafil in HD patients using the database ENROLL-HD. We demonstrate beneficial effects on motoric, functional and cognitive capacities in cross-sectional data.

Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy.

Familial hypocalciuric hypercalcemia (FHH) is a mostly benign condition of elevated calcium and PTH levels based on a hyposensitive calcium sensing receptor () in FHH 1 or its downstream regulatory pathway in FHH2 and FHH3. In children, adolescents and young adults with FHH the main challenge is to distinguish the condition from primary hyperparathyroidism and thereby to avoid unnecessary treatments including parathyroidectomy. However, inheritance of FHH may result in neonatal hyperparathyroidism (NHPT) or neonatal severe hyperparathyroidism (NSHPT), conditions with high morbidity, and in the latter even high mortality.

Low Risk of Severe Acute Respiratory Syndrome Coronavirus 2 Transmission by Fomites: A Clinical Observational Study in Highly Infectious Coronavirus Disease 2019 Patients.

Background: The contribution of droplet-contaminated surfaces for virus transmission has been discussed controversially in the context of the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic. More importantly, the risk of fomite-based transmission has not been systematically addressed. Therefore, the aim of this study was to evaluate whether confirmed hospitalized coronavirus disease 2019 (COVID-19) patients can contaminate stainless steel carriers by coughing or intensive moistening with saliva and to assess the risk of SARS-CoV-2 transmission upon detection of viral loads and infectious virus in cell culture.

Motherhood choice in multiple sclerosis (MoMS) development and piloting of patient-reported outcome measures.

Background: Multiple sclerosis (MS) particularly affects women between the age of 20 and 40. Therefore, pregnancy is often an important issue for women with MS (wwMS), but misunderstandings, misinformation, and uncertainties about MS and pregnancy are common. We developed and pilot-tested two questionnaires, one on knowledge (MCKQ), and one on attitudes, coping strategies and worries (MPWQ) of wwMS regarding pregnancy.

COVID-19 mortality in cirrhosis is determined by cirrhosis-associated comorbidities and extrahepatic organ failure: Results from the multinational LEOSS registry.

Background And Objective: International registries have reported high mortality rates in patients with liver disease and COVID-19. However, the extent to which comorbidities contribute to excess COVID-19 mortality in cirrhosis is controversial.

Methods: We used the multinational Lean European Open Survey on SARS-CoV-2-infected patients (LEOSS) to identify patients with cirrhosis documented between March 2020 and March 2021, when the wild-type and alpha variant were predominant.

Predictors for the detection of arrhythmia requiring pacemaker/ICD implantation-Results from a loop recorder study.

Background: There are few large studies on which factors are associated with the occurrence of arrhythmias. Implantable loop recorders (ILR) are useful in detecting arrhythmia due to prolonged and continuous ECG monitoring. Therefore, the aim of this study is to identify and evaluate clinical characteristics and ECG parameters for predicting arrhythmias requiring pacemaker/ICD implantation by analyzing a study cohort with ILR.

Expression of DNA mismatch repair proteins in melanoma patients treated with immune checkpoint inhibitors.

Purpose: To investigate the protein expression of DNA mismatch repair (MMR) proteins in patients with cutaneous melanoma (CM) under immune checkpoint inhibitor (ICI) therapy.

Methods: Immunohistochemistry was performed on tumor tissue for MMR proteins MLH1, MSH2, MSH6, and PMS2 in 50 metastatic CM patients treated with ICI (ipilimumab, nivolumab, pembrolizumab).

Results: Best overall response (BOR) rate was 48% (24/50).

Diabetes Mellitus Is a Possible Risk Factor for Nodo-paranodopathy With Antiparanodal Autoantibodies.

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.

How should I treat patients with subclinical atrial fibrillation and atrial high-rate episodes? Current evidence and clinical importance.

Long-term and continuous ECG monitoring using cardiac implantable electronic devices and insertable cardiac monitors has improved the capability of detecting subclinical atrial fibrillation (AF) and atrial high-rate episodes. Previous studies demonstrated a high prevalence (more than 20%) in patients with cardiac implantable electronic devices or insertable cardiac monitors. Subclinical AF and atrial high-rate episodes are often suspected as the cause of prior or potential future ischemic stroke.

Neurological manifestations of long-COVID syndrome: a narrative review.

Accumulating evidence points toward a very high prevalence of prolonged neurological symptoms among coronavirus disease 2019 (COVID-19) survivors. To date, there are no solidified criteria for 'long-COVID' diagnosis. Nevertheless, 'long-COVID' is conceptualized as a multi-organ disorder with a wide spectrum of clinical manifestations that may be indicative of underlying pulmonary, cardiovascular, endocrine, hematologic, renal, gastrointestinal, dermatologic, immunological, psychiatric, or neurological disease.

Causes of mortality in elderly UICC stage III colon cancer (CC) patients--Tumor-related death and competing risks from the German AIO colorectal study group Colopredict Plus (CPP) registry.

Background: Colon cancer (CC) is a disease of elderly patients (pts.) with a median age of 73 years (yrs.).

Another Perspective on Huntington's Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD.

Background: In addition to the effects on patients suffering from motor-manifest Huntington's disease (HD), this fatal disease is devasting to people who are at risk, premanifest mutation-carriers, and especially to whole families. There is a huge burden on people in the environment of affected HD patients, and a need for further research to identify at-risk caregivers. The aim of our research was to investigate a large cohort of family members, in comparison with genotype negative and premanifest HD in order to evaluate particular cohorts more closely.

Unilateral Choanal Atresia: Indications of Long-Term Olfactory Deficits and Volumetric Brain Changes Postsurgically.

Background: Very few studies have investigated whether unilateral choanal atresia is associated with permanent olfactory deficits.

Objective: This study aimed to evaluate the olfactory performance of patients with unilateral choanal atresia postsurgically.

Methods: Three patients with unilateral atresia were examined in terms of olfactory performance with the Sniffin' Sticks test (odor identification, threshold, and discrimination), size of the olfactory bulb, and volumetric brain changes.

An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee.

Background: Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole genome sequencing (WES, WGS) has enlarged the diagnostic toolkit but also increased the complexity of the endeavour. Structured multidisciplinary clinical pathways (CPW) can guide diagnosis, treatment, and care of patients with rare diseases, link scientific evidence to clinical practice and optimise clinical outcomes whilst maximising clinical efficiency.

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.

Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (). The condition is often un- or misdiagnosed but may have a prevalence as high as 74 in 100.000.

The level of urbanization influences acute ischemic stroke care: A nationwide ecological study from Germany.

Background And Purpose: Regional differences in acute ischemic stroke (AIS) care are still reported for Germany but not fully understood. We aimed to analyze the impact of the level of urbanization on the application of proved treatment procedures and the incidence of hospitalized AIS cases in Germany.

Methods: The level of urbanization of the 401 districts and district-free cities in Germany was defined according to the Federal Institute for Building, Urban Affairs and Spatial Research classification.

Echocardiography-derived total atrial conduction time (PA-TDI duration): risk stratification and guidance in atrial fibrillation management.

Atrial fibrillation (AF) is a major cause of cardiovascular morbidity and mortality. To early detect and to avoid AF-related complications, several cardiac imaging modalities and approaches aim to quantify the severity of the underlying atrial cardiomyopathy (i.e.