Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.

The maintenance of lipid asymmetry on the plasma membrane is regulated by flippases, such as ATP8A2, ATP11A, and ATP11C, which translocate phosphatidylserine and phosphatidylethanolamine from the outer leaflet to the inner leaflet. We previously identified a patient-derived point mutation (Q84E) in ATP11A at the phospholipid entry site, which acquired the ability to flip phosphatidylcholine (PtdCho). This mutation led to elevated levels of sphingomyelin (SM) in the outer leaflet of the plasma membrane.

Immunogenicity, Efficacy, and Safety of Biosimilar Insulin Glargine (Gan & Lee Glargine) Compared With Originator Insulin Glargine (Lantus) in Patients With Type 1 Diabetes After 26 Weeks Treatment.

Objective: To compare the immunogenicity, safety, and efficacy of Gan & Lee insulin glargine (GL Glargine) with that of the originator insulin glargine (Lantus) in patients with type 1 diabetes mellitus (T1DM).

Methods: This was a phase 3, multicenter, randomized, open-label, equivalence study. Five hundred seventy-six subjects with T1DM were randomized 1:1 to receive either GL Glargine or Lantus treatment for 26 weeks.

Pancreatic SABR using peritumoral fiducials, triggered imaging and breath-hold.

We aim to present our linear accelerator-based workflow for pancreatic stereotactic ablative radiotherapy (SABR) in order to address the following issues: intrafractional organ motion management, Cone Beam CT (CBCT) image quality, residual errors with dosimetric consequences, treatment time, and clinical results. Between 2016 and 2021, 14 patients with locally advanced pancreatic cancer were treated with induction chemotherapy and SABR using volumetric modulated arc therapy (VMAT). Internal target volume (ITV) concept (5), phase-gated (4), or breath hold (5) techniques were used.

Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

Mitogen-activated protein kinase 8-interacting protein 3 gene (MAPK8IP3) encodes the c-Jun-amino-terminal kinase-interacting protein 3 (JIP3) and is involved in retrograde axonal transport. Heterozygous de novo pathogenic variants in MAPK8IP3 result in a neurodevelopmental disorder with or without brain abnormalities and possible axonal peripheral neuropathy. Whole-exome sequencing was performed on an individual presenting with severe congenital muscle hypotonia of neuronal origin mimicking lethal spinal muscular atrophy.

Corrigendum: Systemic treatment of breast cancer. 1st Central-Eastern European professional Consensus Statement on breast cancer.

[This corrects the article DOI: 10.3389/pore.2022.

Is endoscopic approach superior to laparoscopic surgery for gastric plication in terms of complications and efficacy? A systematic review including meta-analysis.

Introduction: Metabolic surgery is a more effective manner to manage weight loss for morbidly obese patients than conservative therapy. There are many surgical and endoscopic modalities to choose which represents a real challenge for bariatric surgeons. LGCP is a restrictive procedure, the greater curvature of stomach is folded into the gastric lumen in one or two layers.

Concomitant Transatrial and Transapical CRT-D Lead Implantation in a Patient with Chest Burn Injury.

Cardiac resynchronization therapy device with defibrillator (CRT-D) implantation is indicated for patients with a history of malignant ventricular arrhythmias, symptomatic heart failure, wide QRS, or high-degree atrioventricular block. A 67-year-old patient with dilated cardiomyopathy received a CRT-D with the conventional method but 1 month later skin necrosis was diagnosed above the device. The complete system was extracted from the patient and we utilized negative pressure wound therapy for the treatment of the remaining tissue.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.

Hemizygous nonsense variant in the moesin gene leads to a new autoimmune phenotype of Immunodeficiency 50.

Here, we present the findings of an investigation involving two male siblings with juvenile total tooth loss, early-onset chronic leg ulcers, and autoimmune thyroiditis, as well as focal segmental glomerulosclerosis with associated pulmonary emphysema in one and diabetes mellitus in the other. The clinical picture and lupus anticoagulant, cryoglobulin, and cold agglutinin positivity suggested the diagnosis of antiphospholipid syndrome. Flow cytometry analysis showed immunophenotypes consistent with immune dysregulation: a low number of naive T cells, elevated CD4 T cell counts, and decreased CD8 T-cell counts were detected, and more than half of the T-helper population was activated.

Anesthetic (r)evolution from the conventional concept to the minimally invasive techniques in thoracic surgery-narrative review.

Background And Objective: Thanks to the growing experience with the non-intubated anesthetic and surgical techniques, most pulmonary resections can now be performed by using minimally invasive techniques. The conventional method, i.e.

Systemic Treatment of Breast Cancer. 1st Central-Eastern European Professional Consensus Statement on Breast Cancer.

This text is based on the recommendations accepted by the 4th Hungarian Consensus Conference on Breast Cancer, modified based on the international consultation and conference within the frames of the Central-Eastern European Academy of Oncology. The professional guideline primarily reflects the resolutions and recommendations of the current ESMO, NCCN and ABC5, as well as that of the St. Gallen Consensus Conference statements.

[Examination of professionals' well-being working in health sector in two Zala county hospitals].

Introduction: The living and working conditions of healthcare professionals are crucial to the quality and efficiency of patient care, therefore examining this issue is of highlighted importance. Objective: To explore the well-being of employees directly involved in the public health care system, through the characteristics of mental health and the workplace climate. Method: The cross-sectional, quantitative research was performed by using convenience sampling (n = 1048) between December 2019 and March 2020 in two hospitals in Zala county, Hungary.

The safety and efficacy of fingolimod: Real-world data from a long-term, non-interventional study on the treatment of RRMS patients spanning up to 5 years from Hungary.

Background: Fingolimod was approved and reimbursed by the healthcare provider in Hungary for the treatment of highly active relapsing-remitting multiple sclerosis (RRMS) in 2012. The present study aimed to assess the effectiveness, safety profile, and persistence to fingolimod in a real-life setting in Hungary in RRMS patients who were either therapy naïve before enrollment or have changed to fingolimod from another disease-modifying therapy (DMT) for any reason.

Methods: This cross-sectional, observational study with prospective data collection was performed nationwide at 21 sites across Hungary.

Do Hungarian multiple sclerosis care units fulfil international criteria?

A Patients: Because of the past 3 decades' extensive research, several disease modifying therapies became available, thus a paradigm change is multiple sclerosis care was necessary. In 2018 a therapeutic guideline was created recommending that treatment of persons with multiple sclerosis should take place in specified care units where the entire spectrum of disease modifying therapies is available, patient monitoring is ensured, and therapy side effects are detected and treated promptly. In 2019 multiple sclerosis care unit criteria were developed, emphasizing personnel and instrumental requirements to provide most professional care.

Non-intubated Thoracoscopic Surgery-Tips and Tricks From Anesthesiological Aspects: A Mini Review.

Background: In the last few decades, surgical techniques have been developed in thoracic surgery, and minimally invasive strategies such as multi-and uniportal video-assisted thoracic surgery (VATS) have become more favorable even for major pulmonary resections. With this surgical evolution, the aesthetic approach has also changed, and a paradigm shift has occurred. The traditional conception of general anesthesia, muscle relaxation, and intubation has been re-evaluated, and spontaneous breathing plays a central role in our practice by performing non-intubated thoracoscopic surgeries (NITS-VATS).

A Randomized, double-blind, dose ranging clinical trial of intravenous FDY-5301 in acute STEMI patients undergoing primary PCI.

Background: Ischemia-reperfusion injury remains a major clinical problem in patients with ST-elevation myocardial infarction (STEMI), leading to myocardial damage despite early reperfusion by primary percutaneous coronary intervention (PPCI). There are no effective therapies to limit ischemia-reperfusion injury, which is caused by multiple pathways activated by rapid tissue reoxygenation and the generation of reactive oxygen species (ROS). FDY-5301 contains sodium iodide, a ubiquitous inorganic halide and elemental reducing agent that can act as a catalytic anti-peroxidant.

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the Gene.

Pathogenic variants of gene were identified first as a monogenic cause of childhood apraxia of speech (CAS), a complex disease that is associated with an impairment of the precision and consistency of movements underlying speech, due to deficits in speech motor planning and programming. variants are heterogenous; single nucleotide variants and small insertions/deletions, intragenic and large-scale deletions, as well as disruptions by structural chromosomal aberrations and uniparental disomy of chromosome 7 are the most common types of mutations. -related speech and language disorders can be classified as "-only," wherein intragenic mutations result in haploinsufficiency of the gene, or "-plus" generated by structural genomic variants (i.

Implementation of a zero fluoroscopic workflow using a simplified intracardiac echocardiography guided method for catheter ablation of atrial fibrillation, including repeat procedures.

Objective: Pulmonary vein isolation (PVI) is the cornerstone of the interventional treatment of atrial fibrillation (AF). Traditionally, during these procedures the catheters are guided by fluoroscopy, which poses a risk to the patient and staff by ionizing radiation. Our aim was to describe our experience in the implementation of an intracardiac echocardiography (ICE) guided zero fluoroscopic (ZF) ablation approach to our routine clinical practice.

A safety study of laparoscopic single-anastomosis duodeno-ileal bypass with gastric plication (SADI-GP) in the management of morbid obesity.

Background: Bariatric surgery is more effective in the management of morbid obesity and related comorbidities than is conservative therapy. Pylorus-preserving single-anastomosis duodeno-ileal bypass with sleeve gastrectomy (SADI-SG) is a modified duodenal switch technique. Gastric plication (GP) is an alternate to SG.

Pathologic Complete Response Rates After Neoadjuvant Pertuzumab and Trastuzumab with Chemotherapy in Early Stage HER2-Positive Breast Cancer - Increasing Rates of Breast Conserving Surgery: A Real-World Experience.

The neoadjuvant use of pertuzumab and trastuzumab with chemotherapy improves the pathologic complete response (pCR) in early HER2+ breast cancer. The aim of this study was to determine the pCR rate obtained with dual HER2 blockade in routine clinical practice. The secondary and tertiary objective was to investigate the impact of neoadjuvant systemic therapy (NST) on performing breast-conserving surgery and survival data.

Clinical Impact of Preoperative Magnetic Resonance Imaging in the Evaluation of Myometrial Infiltration and Lymph-Node Metastases in Stage I Endometrial Cancer.

Purpose: In the developed world, endometrial cancer is one of the most common malignant gynecological cancer types. Due to the highly available diagnostic modalities and patient education, the early detection of the tumor leads to high overall survival. In this study we analyzed the reliability of preoperative MRI findings in the staging of early stage endometrial cancer, as well as the clinical characteristics of patients underwent radical hysterectomy and the histopathologic evaluation of their tumor, with the retrospective data of radical hysterectomies performed in our hospital between 2010 and 2019.

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical Microdeletions.

Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in gene, large deletions encompassing the gene and its flanking regions are responsible for the development of the variable clinical phenotype. These large deletions titled as microdeletions lead to a more severe clinical phenotype than those observed in patients with intragenic mutations.

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

Pompe disease is caused by the accumulation of glycogen in the lysosomes due to a deficiency of the lysosomal acid-α-glucosidase (GAA) enzyme. Depending on residual enzyme activity, the disease manifests two distinct phenotypes. In this study, we assess an enzymatic and genetic analysis of Hungarian patients with Pompe disease.

International Nosocomial Infection Control Consortium (INICC) report, data summary of 45 countries for 2013-2018, Adult and Pediatric Units, Device-associated Module.

Background: We report the results of INICC surveillance study from 2013 to 2018, in 664 intensive care units (ICUs) in 133 cities, of 45 countries, from Latin-America, Europe, Africa, Eastern-Mediterranean, Southeast-Asia, and Western-Pacific.

Methods: Prospective data from patients hospitalized in ICUs were collected through INICC Surveillance Online System. CDC-NHSN definitions for device-associated healthcare-associated infection (DA-HAI) were applied.