Preservation of inferior mesenteric artery reduces short- and long-term defecatory dysfunction after laparoscopic colorectal resection for diverticular disease: An RCT.

Background: The quality of life after surgery for diverticular disease is mainly linked to the presence and severity of postoperative defecatory disorders. These symptoms are frequently related to the sigmoid and rectal denervation following the arterial ligation. The preservation of Inferior Mesenteric Artery performing colorectal resections seems to reduce denervation, which led to a better defecatory function.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Chronic Compartment Syndrome in Athletes.

Chronic compartment syndrome (CCS) is a pressure increase within a non-expandable fibro-osseous space resulting from continuous and intense physical activity. Its symptoms usually improve with rest or reduced activity. It is a critical cause of lower limb pain in athletes and the second most common cause of effort-related leg pain.

The Evidence Base for Circulating Tumor DNA-Methylation in Non-Small Cell Lung Cancer: A Systematic Review and Meta-Analysis.

: Non-Small Cell Lung Cancer (NSCLC) remains a challenging disease to manage with effectiveness. Early detection and precise monitoring are crucial for improving patient outcomes. Circulating tumor DNA (ctDNA) offers a non-invasive cancer detection and monitoring method.

Usage of the Anemia Control Model Is Associated with Reduced Hospitalization Risk in Hemodialysis.

Introduction: The management of anemia in chronic kidney disease (CKD-An) presents significant challenges for nephrologists due to variable responsiveness to erythropoietin-stimulating agents (ESAs), hemoglobin (Hb) cycling, and multiple clinical factors affecting erythropoiesis. The Anemia Control Model (ACM) is a decision support system designed to personalize anemia treatment, which has shown improvements in achieving Hb targets, reducing ESA doses, and maintaining Hb stability. This study aimed to evaluate the association between ACM-guided anemia management with hospitalizations and survival in a large cohort of hemodialysis patients.

The Personalized Inherited Signature Predisposing to Non-Small-Cell Lung Cancer in Non-Smokers.

Lung cancer (LC) continues to be an important public health problem, being the most common form of cancer and a major cause of cancer deaths worldwide. Despite the great bulk of research to identify genetic susceptibility genes by genome-wide association studies, only few loci associated to nicotine dependence have been consistently replicated. Our previously published study in few phenotypically discordant sib-pairs identified a combination of germline truncating mutations in known cancer susceptibility genes in never-smoker early-onset LC patients, which does not present in their healthy sib.

The Genetic Analysis and Clinical Therapy in Lung Cancer: Current Advances and Future Directions.

Lung cancer, including both non-small cell lung cancer and small cell lung cancer, remains the leading cause of cancer-related mortality worldwide, representing 18% of the total cancer deaths in 2020. Many patients are identified already at an advanced stage with metastatic disease and have a worsening prognosis. Recent advances in the genetic understanding of lung cancer have opened new avenues for personalized treatments and targeted therapies.

Breathing Monitoring in Soccer: Part I-Validity of Commercial Wearable Sensors.

Growing evidence suggests that respiratory frequency () is a valid marker of effort during high-intensity exercise, including sports of an intermittent nature, like soccer. However, very few attempts have been made so far to monitor in soccer with unobtrusive devices. This study assessed the validity of three strain-based commercial wearable devices measuring during soccer-specific movements.

No more than "half prevention": A qualitative study on psychosocial determinants of Covid-19 vaccination acceptance.

Vaccine hesitancy represents a major barrier to achieving Covid-19 vaccination coverage, including in Italy, where the vaccination rates suggest that Covid-19 vaccination has not been fully integrated into people's routine immunization schedules. While quantitative studies have generated ample data on factors influencing vaccination decisions, rarely was an overall picture of people's actual views and experiences with Covid-19 vaccines provided. To address this gap, this qualitative study aimed to explore, from a psychosocial perspective, the relationships between perceptions of Covid-19 vaccines, traditional vaccines, and general approaches to prevention.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2-related disease, we developed a clinical questionnaire that we administered to 43 individuals from 23 distinct families carrying pathogenic variants.

A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.

Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous with hundreds of identified risk genes, most affecting only a few patients. Novel missense variants in these genes are being discovered as clinical exome sequencing is now routinely integrated into diagnosis, yet most of them are annotated as variants of uncertain significance (VUS). VUSs are a major roadblock in using patient genetics to inform clinical action.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene.

MET is a new confirmed gene responsible for familial distal arthrogryposis.

In this Correspondence, F. Mari and colleagues report a second two-generation family with distal arthrogryposis caused by a mutation in MET tyrosine kinase. [Image: see text]

The Use of Anemia Control Model Is Associated with Improved Hemoglobin Target Achievement, Lower Rates of Inappropriate Erythropoietin Stimulating Agents, and Severe Anemia among Dialysis Patients.

Introduction: The Anemia Control Model (ACM) is a certified medical device suggesting the optimal ESA and iron dosage for patients on hemodialysis. We sought to assess the effectiveness and safety of ACM in a large cohort of hemodialysis patients.

Methods: This is a retrospective study of dialysis patients treated in NephroCare centers between June 1, 2013 and December 31, 2019.

Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.

Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent stem cell (hiPSC) line from a 15-year-old male patient with CDG. The patient carried three variants, one (c.

From electronic health records to clinical management systems: how the digital transformation can support healthcare services.

Healthcare systems worldwide are currently undergoing significant transformations in response to increasing costs, a shortage of healthcare professionals and the growing complexity of medical needs among the population. Value-based healthcare reimbursement systems are emerging as an attempt to incentivize patient-centricity and cost containment. From a technological perspective, the transition to digitalized services is intended to support these transformations.

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.

Background: The COVID-19 pandemic had a major impact on the mental health and well-being of children with neurodevelopmental conditions (NDCs) and of their families worldwide. However, there is insufficient evidence to understand how different factors (e.g.

Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.

Background: Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with intellectual disability and autistic features. The unique pattern of inheritance includes random X-chromosome inactivation, which leads to pathological tissue mosaicism. Females carrying PCDH19 mutations are affected, while males have a normal phenotype.

An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with -Related Neural Disorder: A Possible New Cell-Based Disease Model.

Although adult stem cells may be useful for studying tissue-specific diseases, they cannot be used as a general model for investigating human illnesses given their limited differentiation potential. Multilineage-differentiating stress-enduring (Muse) stem cells, a SSEA3(+) cell population isolated from mesenchymal stromal cells, fat, and skin fibroblasts, may be able to overcome that restriction. The Muse cells present in fibroblast cultures obtained from biopsies of patients' skin may be differentiated into cells of interest for analyzing diseases.

Evidence-Based Treatment of Infections: A Critical Reappraisal.

Multidrug-resistant (MDR)/extensively drug-resistant (XDR) is emerging as a major threat related to adverse patient outcomes. The goal of this review is to describe evidence-based empiric and targeted treatment regimens that can be exploited when dealing with suspected or confirmed infections due to MDR/XDR . has inherent resistance to many drug classes, the capacity to form biofilms, and most importantly, the ability to quickly acquire resistance to ongoing treatments.