Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.

Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.

Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).

3D printed customized facemask for early treatment of Class III malocclusion: a two-center case series feasibility study.

Background: This prospective two-center case series feasibility study aimed to investigate the potential of a novel maxillary protraction facemask customized to the patients' anatomy recorded with 3D face scanning and then produced by digital design and additive manufacturing.

Methods: Ten subjects (5 females and 5 males, average age 7.7±1.

Exploring the Trade-Off between generalist and specialized Models: A center-based comparative analysis for glioblastoma segmentation.

Introduction: Inherent variations between inter-center data can undermine the robustness of segmentation models when applied at a specific center (dataset shift). We investigated whether specialized center-specific models are more effective compared to generalist models based on multi-center data, and how center-specific data could enhance the performance of generalist models within a particular center using a fine-tuning transfer learning approach. For this purpose, we studied the dataset shift at center level and conducted a comparative analysis to assess the impact of data source on glioblastoma segmentation models.

Cost-effectiveness of robotic vs laparoscopic distal pancreatectomy. Results from the national prospective trial ROBOCOSTES.

Introduction: Although several studies report that the robotic approach is more costly than laparoscopy, the cost-effectiveness of robotic distal pancreatectomy (RDP) over laparoscopic distal pancreatectomy (LDP) is still an issue. This study evaluates the cost-effectiveness of the RDP and LDP approaches across several Spanish centres.

Methods: This study is an observational, multicenter, national prospective study (ROBOCOSTES).

Insights into phenotypic variability caused by GARS1 pathogenic variants.

Background And Purpose: Pathogenic variants of the glycyl-tRNA synthetase 1 (GARS1) gene have been described as a cause of Charcot-Marie-Tooth disease type 2D, motor axonal neuropathy with upper limb predominance (distal hereditary motor neuropathy [dHMN] type V), and infantile spinal muscular atrophy.

Methods: This cross-sectional, retrospective, observational study was carried out on 12 patients harboring the c.794C>T (p.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene.

Loss-of-function variants in cause congenital myopathy with prominent facial involvement.

Background: Weakness of facial, ocular, and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants in genes encoding triad proteins. Abnormalities in triad structure and function resulting in disturbed excitation-contraction coupling and Ca homeostasis can contribute to disease pathology.

Methods: We analysed exome and genome sequencing data from three unrelated individuals with congenital myopathy characterised by striking facial, ocular, and bulbar involvement.

Revisiting Classical Controller Design and Tuning with Genetic Programming.

This paper introduces the application of a genetic programming (GP)-based method for the automated design and tuning of process controllers, representing a noteworthy advancement in artificial intelligence (AI) within the realm of control engineering. In contrast to already existing work, our GP-based approach operates exclusively in the time domain, incorporating differential operations such as derivatives and integrals without necessitating intermediate inverse Laplace transformations. This unique feature not only simplifies the design process but also ensures the practical implementability of the generated controllers within physical systems.

Preliminary results of the effect of music therapy treatment on anxiety, sadness, physical discomfort, mood, and quality of life in hospitalized onco-haematological patients.

Background: Physical and psychological distress may occur in patients facing an onco-haematological diagnosis and undergoing complex therapies such as intensive chemotherapy, stem cell transplantation, and immunotherapy. Studies have shown the need for incorporating different therapeutic modalities to respond to patients' physical and psychosocial needs.

Aims: The purpose of this study was to evaluate the effectiveness of music therapy treatment on mood, anxiety, depression, and physical discomfort in hospitalized onco-haematological patients.

Prevalence and Antimicrobial Resistance of spp. Isolated from Broilers Throughout the Supply Chain in Valencia, Spain.

is a major foodborne pathogen and its antimicrobial resistance (AMR) has been described worldwide. The main objective of this study was to determine the occurrence and AMR of spp. isolated from broilers throughout the supply chain in Valencia, Spain.

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.

Objective: Duchenne muscular dystrophy (DMD) exon 45-55 deletion (del45-55) has been postulated as a model that could treat up to 60% of DMD patients, but the associated clinical variability and complications require clarification. We aimed to understand the phenotypes and potential modifying factors of this dystrophinopathy subset.

Methods: This cross-sectional, multicenter cohort study applied clinical and functional evaluation.

Taxi services and the carsharing alternative: a case study of valencia city.

The public's awareness of pollution in cities is growing. The decrease of carbon dioxide emissions from the use of fossil-fuel-powered cars stands out among the different viable alternatives. To this purpose, more sustainable options, such as carsharing fleets, could be used to replace private automobiles and other services such as taxis.

3D Printed Customized Facemask for Maxillary Protraction in the Early Treatment of a Class III Malocclusion: Proof-of-Concept Clinical Case.

In order to improve fit and comfort, a maxillary protraction facemask customized to the patient's anatomy was produced by means of 3D face scanning, digital design and additive manufacturing. An 8-year-old patient in need of early treatment for the Class III malocclusion received a rapid palatal expander and a Petit-type facemask, whose components were digitally designed on a 3D scan of the patient's face. For face scanning, the iPad Pro 2018 tablet (Apple, Cupertino, CA, USA) with the Bellus3D DentalPro application (Bellus3D, Campbell, CA, USA) was used.

Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection.

LGMDD2 is a rare form of muscular dystrophy characterized by one of the three heterozygous deletions described within the gene that result in the addition of a 15-amino acid tail in the C-terminus.TNPO3 is involved in the nuclear import of splicing factors and acts as a host cofactor for HIV-1 infection by mechanisms not yet deciphered. Further characterization of the crosstalk between HIV-1 infection and LGMDD2 disease may contribute to a better understanding of both the cellular alterations occurring in LGMDD2 patients and the role of TNPO3 in the HIV-1 cycle.

Predictors of postoperative complications and readmissions in laparoscopic pancreas resection: Results of a cohort 105 consecutive cases. A retrospective study.

Introduction: Laparoscopic resection of the pancreas (LRP) has been implemented to a varying degree because it is technically demanding and requires a long learning curve. In the present study we analyze the risk factors for complications and hospital readmissions in a single center study of 105 consecutive LRPs.

Methods: We conducted a retrospective study using a prospective database.

Dysphagia and mechanical ventilation in SARS-COV-2 pneumonia: It's real.

Background & Aims: Dysphagia can be a consequence of prolonged hospitalization in intensive care units (ICUs) due to severe SARS-CoV-2 pneumonia. This study aims at Identifying the risk factors for dysphagia in ICU patients with COVID-19 pneumonia requiring invasive mechanical ventilation, and at determining the frequency of postextubation dysphagia in this population.

Methods: Observational, descriptive, retrospective, cohort study of SARS-CoV-2 pneumonia patients admitted into the ICUs from March to May 2020.

Mid-air haptics for shape recognition of virtual objects.

This paper presents an experiment in which participants had to discriminate three mid-air haptic shapes (circle, square, point) by reporting whether the haptic stimulus (e.g. circle on the palm of the hand) was compatible with an image (e.

Decreased CRRT Filter Lifespan in COVID-19 ICU Patients.

(1) Background: Increased thromboembolic events and an increased need for continuous renal replacement therapy (CRRT) have been frequently reported in COVID-19 patients. Our aim was to investigate CRRT filter lifespan in intensive care unit (ICU) COVID-19 patients. (2) Methods: We compared CRRT adjusted circuit lifespan in COVID-19 patients admitted for SARS-CoV-2 infection to a control group of patients admitted for septic shock of pulmonary origin other than COVID-19.

One year after ICU admission for severe community-acquired pneumonia of bacterial, viral or unidentified etiology. What are the outcomes?

Introduction: Multiplex polymerase chain reaction (mPCR) for respiratory virus testing is increasingly used in community-acquired pneumonia (CAP), however data on one-year outcome in intensive care unit (ICU) patients with reference to the causative pathogen are scarce.

Materials And Methods: We performed a single-center retrospective study in 123 ICU patients who had undergone respiratory virus testing for CAP by mPCR and with known one-year survival status. Functional status including dyspnea (mMRC score), autonomy (ADL Katz score) and need for new home-care ventilatory support was assessed at a one-year post-ICU follow-up.

Measured and Estimated Glomerular Filtration Rate in the ICU: A Prospective Study.

Objectives: To compare estimated glomerular filtration rate using classical static and kinetic equations with measured glomerular filtration rate assessed by plasma iohexol clearance in a mixed population of critical care patients.

Patients: Unselected patients older than 18 and admitted to a general ICU.

Design: Interventional prospective single center study.