Data-driven historical characterization of epilepsy-associated genes.

Many epilepsy-associated genes have been identified over the last three decades, revealing a remarkable molecular heterogeneity with the shared outcome of recurrent seizures. Information about the genetic landscape of epilepsies is scattered throughout the literature and answering the simple question of how many genes are associated with epilepsy is not straightforward. Here, we present a computationally driven analytical review of epilepsy-associated genes using the complete scientific literature in PubMed.

Decannulation/Weaning Potential and Success in Home Intensive Care.

Background: The number of patients receiving home long-term ventilation has risen considerably in recent decades owing to medical advancements. Experts believe that the potential for ventilator weaning or tracheostoma removal is currently insufficiently exploited.

Objective: The objective of this study was to investigate the characteristics, prognosis, and decannulation/weaning potential of patients under home intensive care.

Development of a Long-Term Cross-Sectoral Case and Care Management Manual for Patients With Severe Multiple Sclerosis and Their Caregivers.

Purpose/objectives: Care and case management (CCM) aims to provide optimal care for patients and their caregivers on an individual and superordinate level of health care providers and authorities. To facilitate a clear and systematic CCM process as part of a clinical study intervention, a semistructured manual is the prerequisite.

Primary Practice Settings: The ongoing COCOS-MS (Communication, Coordination and Security for People with Multiple Sclerosis) study is a randomized controlled Phase II clinical intervention study.

First detection of Cryptosporidium proventriculi from wild birds in Cyprus.

Cryptosporidium is an important intestinal zoonotic pathogen that can infect various hosts and cause diarrheal disease. There are no reports on the prevalence and molecular characterization of Cryptosporidium in wild birds in Cyprus. Therefore, the present study aimed to determine the prevalence of Cryptosporidium spp.

Non-CPAP therapy for obstructive sleep apnoea.

Unlabelled: Treatment of obstructive sleep apnoea in adults is evolving, from a "one treatment fits all" to a more individualised approach. The spectrum of treatment options is broad and heterogeneous, including conservative, technological and pharmaceutical modalities. This raises the questions of which patients these modalities might be useful for, and if there are specific criteria for single or combined treatment.

Dying in self-defence: a comparative overview of immunogenic cell death signalling in animals and plants.

Host organisms utilise a range of genetically encoded cell death programmes in response to pathogen challenge. Host cell death can restrict pathogen proliferation by depleting their replicative niche and at the same time dying cells can alert neighbouring cells to prepare environmental conditions favouring future pathogen attacks. As expected, many pathogenic microbes have strategies to subvert host cell death to promote their virulence.

The Reliability of Preoperative Total Knee Arthroplasty Planning -a Comparison of Two Calibration Markers.

Background: Preoperative templating is the gold standard in planning elective total knee arthroplasty. This retrospective study analyses preoperative templating by using two different calibration devices.

Methods: Preoperative radiographic templating with TraumaCad using two different calibration devices was performed in 231 patients.

Laparo-assisted vaginal radical hysterectomy as a safe option for minimal invasive surgery in early stage cervical cancer: A systematic review and meta-analysis.

Background: Radical hysterectomy and pelvic lymphadenectomy are considered the standard treatment for early-stage cervical cancer (ECC). Minimal Invasive approach to this surgery has been debated after the publication of a recent prospective randomized trial (Laparoscopic Approach to Cervical Cancer, LACC trial). It demonstrated poorer oncological outcomes for Minimal Invasive Surgery in ECC.

Staging for Breast Cancer: A Nationwide Survey about Adherence to Guidelines in German Breast Centers.

Introduction: The risk for metastasis at primary diagnosis of breast cancer is about 4%. The German guidelines give clear indications on when, who, and how to stage breast cancer patients. Ideally, this should be done via computerized axial tomography (CAT) scan of the thorax and abdomen and an additional bone scan.

Toward Precision Medicine in ADHD.

Attention-Deficit Hyperactivity Disorder (ADHD) is a complex and heterogeneous neurodevelopmental condition for which curative treatments are lacking. Whilst pharmacological treatments are generally effective and safe, there is considerable inter-individual variability among patients regarding treatment response, required dose, and tolerability. Many of the non-pharmacological treatments, which are preferred to drug-treatment by some patients, either lack efficacy for core symptoms or are associated with small effect sizes.

Virulence of Staphylococcus Infection in Surgically Treated Patients With Endocarditis : A Multicenter Analysis.

Objective: Infective endocarditis (IE) caused by Staphylococcus species (spp.) is believed to be associated with higher morbidity and mortality rates. We hypothesize that Staphylococcus spp.

Management of obstructive sleep apnea in Europe - A 10-year follow-up.

Objective: In 2010, a questionnaire-based study on obstructive sleep apnea (OSA) management in Europe identified differences regarding reimbursement, sleep specialist qualification, and titration procedures. Now, 10 years later, a follow-up study was conducted as part of the ESADA (European Sleep Apnea Database) network to explore the development of OSA management over time.

Methods: The 2010 questionnaire including questions on sleep diagnostic, reimbursement, treatment, and certification was updated with questions on telemedicine and distributed to European Sleep Centers to reflect European OSA management practice.

Update about Oralair® as a treatment for grass pollen allergic rhinitis.

Sublingual immunotherapy (SLIT) is a well-tolerated, safe, and effective approach to treating allergic rhinitis (AR). Oralair® is a five-grass pollen SLIT tablet containing natural pollen allergens from five of the major grass species responsible for seasonal AR due to grass pollen allergy. Recommended use is in a pre-coseasonal regimen, starting daily treatment approximately 4 months before the start of the pollen season, with treatment then continued daily throughout the season; treatment should continue for 3-5 y.

Prevalence of left ventricular thrombus formation after mitral valve edge-to-edge repair.

The prevalence of left ventricular (LV) thrombus formation following percutaneous mitral valve edge-to-edge repair (TMVR) with the MitraClip system is unclear. Decreased total stroke volume and perfusion of the LV apex after mitral valve repair may facilitate thrombus formation especially in the context of reduced LV function. LV thrombus may cause disabling stroke or other thromboembolic events in this elderly and multimorbid patient cohort.

Laparo-assisted vaginal radical hysterectomy as a safe option for Minimal Invasive Surgery in early stage cervical cancer: A systematic review and meta-analysis.

Background: Radical hysterectomy and pelvic lymphadenectomy are considered the standard treatment for early-stage cervical cancer (ECC). Minimal Invasive approach to this surgery has been debated after the publication of a recent prospective randomized trial (Laparoscopic Approach to Cervical Cancer, LACC trial). It demonstrated poorer oncological outcomes for Minimal Invasive Surgery in ECC.

Live-Cell Imaging of the Contractile Velocity and Transient Intracellular Ca Fluctuations in Human Stem Cell-Derived Cardiomyocytes.

Live-cell imaging techniques are essential for acquiring vital physiological and pathophysiological knowledge to understand and treat heart disease. For live-cell imaging of transient alterations of [Ca] in human cardiomyocytes, we engineered human-induced pluripotent stem cells carrying a genetically-encoded Ca-indicator (GECI). To monitor sarcomere shortening and relaxation in cardiomyocytes in real-time, we generated a α-cardiac actinin (ACTN2)-copepod (cop) green fluorescent protein (GFP)-human-induced pluripotent stem cell line by using the CRISPR-Cas9 and a homology directed recombination approach.

Prognostic Power of Pulmonary Arterial Compliance Is Boosted by a Hemodynamic Unloading Test With Glyceryl Trinitrate in Heart Failure Patients With Post-capillary Pulmonary Hypertension.

Background: Pulmonary hypertension (PH) is an established risk factor in patients with heart failure (HF). However, right heart catheterisation (RHC) and vasoreactivity testing (VRT) are not routinely recommended in these patients.

Methods: The primary objective of the present study was to explore the impact of VRT using sublingual glyceryl trinitrate (GTN) on transplant/ventricular assist device-free survival in HF patients with post-capillary PH.

Initial Proportion and Dynamic of B.1.1.7 SARS-CoV-2 in a Large City in the West of Germany.

Rationale: Several mutational variants of SARS-CoV-2 have been identified in the past months with increasing prevalence worldwide. Some variants, such as B.1.

Awareness and perceptions of medical students and doctors regarding Tropical Medicine education and training in Europe: An international, online-based survey.

Background: Multifactorial health determinants and shifts in global patterns of disease increase the need for Tropical Medicine training across Europe. A survey of university and postgraduate opportunities in Europe was conducted to identify and analyse gaps.

Method: An online survey was circulated to medical students and doctors in Europe between April and June 2021.

The experience of episodic breathlessness from the perspective of informal caregivers: a qualitative interview study.

Background: Episodic breathlessness is a common form of chronic breathlessness that is highly distressing for patients with diseases such as chronic obstructive pulmonary disease (COPD) and lung cancer in advanced stages. Little is known about the experiences of informal caregivers who care for patients with episodic breathlessness. The present study aims to explore and describe the experiences and coping strategies of informal caregivers who deal with this challenging condition.