Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

Accurate evaluation of factor VIII activity of efanesoctocog alfa in the presence of emicizumab.

Background: Efanesoctocog is a B-domain-deleted, Fc-fusion factor (F)VIII linked to the D'D3 domain of von Willebrand factor and 2 XTEN polypeptides, designed for an ultra-extended half-life for prophylaxis in hemophilia A, but also aiding in managing acute bleeding or surgery in patients on long-term emicizumab. However, no current laboratory method accurately measures FVIII levels in the presence of emicizumab.

Objectives: To test whether the bovine chromogenic FVIII assay, specifically calibrated for efanesoctocog, could provide an accurate assessment of efanesoctocog activity.

Surgical Outcomes of the ZSI475 FtM Inflatable Erectile Prosthesis Implantation After Phalloplasty.

Objective: To report the surgical outcomes and complications experienced after implantation of the ZSI475 FtM prosthesis after phalloplasty.

Methods: All consecutive patients who underwent ZSI475FtM prosthesis implantation in their neophallus between January 2016 and March 2024 in our center were included. There was no exclusion criterion.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Chronic Carriage of Leptospira interrogans Genotype Associated With the Australis Serogroup by Naturally-Infected Hedgehogs (Erinaceus europaeus) at a Wildlife Health Centre in Northwestern France.

Background: Leptospirosis is a widespread zoonosis caused by bacteria in the genus Leptospira. Basic epidemiological information is crucial to mitigating disease risk but is lacking for leptospirosis; notably, the hosts responsible for maintaining Leptospira remain largely unknown. Frequently observed near human habitations, hedgehogs (Erinaceus europaeus) are taken to wildlife rescue centres when found sick or injured.

Medical Management of the Near-Narrowed Internal Auditory Canal Pathology in the Adult Population: A Preliminary Study.

: Objective: To discuss therapeutic outcomes in patients with symptomatic near-narrow internal auditory canal (NNIAC). : We retrospectively analyzed the records of 26 symptomatic patients diagnosed with NNIAC, who had been treated with anti-epileptic drugs. In addition to clinical and radiological data, we recorded I-III latencies of auditory brainstem responses prior to and after medical therapy.

Interstitial Lung Disease Associated with Anti-Ku Antibodies: A Case Series of 19 Patients.

Antibodies against Ku have been described in patients with various connective tissue diseases. The objective of this study was to describe the clinical, functional, and imaging characteristics of interstitial lung disease in patients with anti-Ku antibodies. : This single-center, retrospective observational study was conducted at a tertiary referral institution.

A Comparative Analysis of Explainable Artificial Intelligence Models for Electric Field Strength Prediction over Eight European Cities.

The widespread propagation of wireless communication devices, from smartphones and tablets to Internet of Things (IoT) systems, has become an integral part of modern life. However, the expansion of wireless technology has also raised public concern about the potential health risks associated with prolonged exposure to electromagnetic fields. Our objective is to determine the optimal machine learning model for constructing electric field strength maps across urban areas, enhancing the field of environmental monitoring with the aid of sensor-based data collection.

Novel Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies.

Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.

Innovative Blown Multi-Micro-Nano-Layer Coextrusion: Insights into Rheology and Process Stability.

The present study introduces an innovative blown coextrusion die technology designed to address a critical gap in the production of multilayer films. Unlike conventional systems, this novel die allows for the creation of films with a high number of layers, ensuring layer integrity even in the micro-nano scale. A key advancement of this die is its ability to increase the number of layers without extending the residence time since it does not require an additional multiplier element.

Molecular Evolution of the Gene in the Subfamily Murinae.

OGP, encoded by the gene, is the major non-serum oviductal protein in most mammals. In the genome of , has been identified as a pseudogene. However, presents a functional gene.

Influence of phase and dominance on ground reaction forces and upper extremity muscle activity during the modified-Closed Kinetic Chain Upper Extremity Stability Test.

Background: The Closed Kinetic Chain Upper Extremity Stability Test (CKCUEST) is a physical performance test designed to assess the upper extremity (UE) stability. However, only one outcome measure is provided for both UEs, limiting its application if the UEs are not similarly involved. Moreover, the changes in loads sustained by the support UE throughout the movement may influence the support UE stability.

Position statement and guidelines about Endoscopic Sleeve Gastroplasty (ESG) also known as "Endo-sleeve".

IS ESG EFFECTIVE IN THE TREATMENT OF OBESITY AND ASSOCIATEDCOMORBIDITIES?: Endoscopic Sleeve Gastroplasty (ESG) is more effective than lifestyle modifications alone for weight loss and improving obesity-related comorbidities. While it has less effect on weight loss compared to Laparoscopic Sleeve Gastrectomy (LSG) in the short to medium term, it offers similar comorbidities resolution to LSG. IS ESG A SAFE PROCEDURE, AND WHAT ARE ITS RISKS?: The safety profile of ESG is consistently supported in the literature.

Real-world effectiveness and safety of bulevirtide monotherapy for up to 96 weeks in patients with HDV-related cirrhosis.

Background And Aims: Bulevirtide (BLV) 2 mg/day is EMA approved for treatment of compensated chronic hepatitis due to Delta virus (HDV) infection, however real-life data in large cohorts of patients with cirrhosis are lacking.

Methods: Consecutive HDV-infected patients with cirrhosis starting BLV 2 mg/day since September 2019 were included in a European retrospective multicenter real-life study (SAVE-D). Patient characteristics before and during BLV treatment were collected.

H-F cross-polarization magic angle spinning dynamic nuclear polarization NMR investigation of advanced pharmaceutical formulations.

A new 3.2 mm H-F-X magic angle spinning dynamic nuclear polarization NMR (MAS DNP-NMR) probe was developed with a unique coil design with separate radiofrequency channels for H excitation and C or F detection to enable acquisition of H-F cross-polarization (CP) MAS experiments, direct-detected F spectra with proton decoupling, and acquisition on C with simultaneous double decoupling on the H and 19F channels as well as H-F-C double-CP experiments under low temperature MAS DNP conditions. We use these sequences to study AZD2811, which is an active pharmaceutical ingredient (API), in its pure dry state as well as in its corresponding drug delivery formulation consisting of drug-loaded polymeric nanoparticles (PNPs).

Muscle relaxation enhances motor imagery capacity in people with anxiety: A randomized clinical trial.

Background: Motor imagery is the mental representation of a movement without physical execution. When motor imagery is performed to enhance motor learning and performance, participants must reach a temporal congruence between the imagined and actual movement execution. Identifying factors that can influence this capacity could enhance the effectiveness of motor imagery programs.

Preservation and early evolution of scalidophoran ventral nerve cord.

Ecdysozoan worms (Nematoida + Scalidophora) are typified by disparate grades of neural organization reflecting a complex evolutionary history. The fossil record offers a unique opportunity to reconstruct the early character evolution of the nervous system via the exceptional preservation of extinct representatives. We focus on their nervous system as it appears in early and mid-Cambrian fossils.

Establishing a living biobank of pediatric high-grade glioma and ependymoma suitable for cancer pharmacology.

Background: Brain tumors are the deadliest solid tumors in children and adolescents. Most of these tumors are glial in origin and exhibit strong heterogeneity, hampering the development of effective therapeutic strategies. In the past decades, patient-derived tumor organoids (PDT-O) have emerged as powerful tools for modeling tumoral cell diversity and dynamics, and they could then help defining new therapeutic options for pediatric brain tumors.

Electrocardiographic markers predict hemodynamic parameters in adults with uncorrected secundum atrial septal defect.

Background: Precapillary pulmonary hypertension (PH) as complication in atrial septal defect (ASD) is closely related to right heart hemodynamics, such as right atrial pressure (RAP) and pulmonary vascular resistance (PVR). Right heart catheterization (RHC) as the gold standard for their measurement is invasive and not widely available in Indonesia. Electrocardiography (ECG) was proposed to be alternative in this matter.

Efficacy of immune checkpoint inhibitors in renal cell carcinoma venous tumour thrombus shrinkage (UroCCR 128).

Purpose: Surgery remains the cornerstone of localized renal cell carcinoma (RCC) care. Pembrolizumab has recently been recommended as a standard of care for RCC patients who are at high risk of recurrence. Data regarding the efficacy of ICIs either alone or in combination with ICIs or VEGF TKIs for VTT shrinkage are scarce.