EXPLORING THE UTILITY OF CELLULAR INDICES IN THE DIAGNOSIS OF ULCERATIVE COLITIS.

Aim: To describe the usefulness of cellular indices in the diagnosis of ulcerative colitis (UC).

Methods: Diagnostic study of patients under 15 years of age undergoing colonoscopy ± esophagogastroduodenoscopy for suspected inflammatory bowel disease between 2015-2022 in a pediatric hospital. Patients with normal biopsy and anatomopathological diagnosis of UC were included.

A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.

Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.

Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.

Baricitinib dose reduction in patients with rheumatoid arthritis achieving sustained disease control: Final results from the RA-BEYOND study.

Objective: This study examines the impact of dose step-down in patients with rheumatoid arthritis (RA) who achieved sustained disease control with baricitinib 4-mg once-daily up to 96-weeks.

Methods: Patients who completed a baricitinib phase 3 study could enter a long-term extension (LTE). In the LTE, patients who received baricitinib 4-mg for ≥15 months and maintained clinical disease activity index (CDAI) low disease activity (LDA) or remission (REM) were blindly randomized to continue 4-mg or taper to 2-mg.

Enhancing Surgical Wound Monitoring: A Paired Cohort Study Evaluating a New AI-Based Application for Automatic Detection of Potential Infections.

This study assessed the feasibility and security of remote surgical wound monitoring using the RedScar© smartphone app, which employs automated diagnosis for early visual detection of infections without direct healthcare personnel involvement. Additionally, patient satisfaction with telematic care was evaluated as a secondary aim. Surgical site infection (SSI) is the second leading cause of healthcare-associated infections (HAIs), leading to prolonged hospital stays, heightened patient distress, and increased healthcare costs.

Middle Cerebral Artery M2 Occlusions: Impact of Segment Dominance and Benefit of Direct Aspiration for the First-Pass Effect.

Background And Purpose: Endovascular thrombectomy (EVT) for acute ischemic stroke (AIS) with M2 segment occlusion of the middle cerebral artery (MCA) is debatable. This study assessed the efficacy, safety, and functional outcomes of EVT in M2 occlusion patients, examining differences in outcomes based on the dominance of the occluded segment (DomM2 vs. Non-DomM2).

Impact of malnutrition on the clinical evolution in a cohort of older patients undergoing emergency surgery for abdominal pathology.

Purpose: Analyse the influence of the nutritional status of older patients undergoing emergency abdominal surgery on postoperative complications, mortality and mean length of hospital stay.

Methods: We performed a longitudinal observational study including patients older than 80 years who underwent emergency surgery by the general surgery service for abdominal pathology, who were followed by the geriatrics service between September 2018 and May 2021. Malnutrition was diagnosed using Global Leadership Initiative on Malnutrition (GLIM) criteria, classifying patients as malnourished and normonourished.

Colorectal Robotic-Assisted Surgery in Children. Long-Term Outcomes and Pitfalls.

Background: Colorectal surgical procedures may benefit from a minimally invasive approach in children, although there are few studies.

Methods: A retrospective, single-centre observational study was conducted on paediatric patients who underwent colorectal robotic-assisted surgery between 2011 and 2022.

Results: A total of 50 patients (33 male; 17 female) were included, with a median age of 4.

Prevalence, Risk Factors, and Clinical Management of Disease-Related Malnutrition in Hospitalized Patients: A Descriptive Analysis Using GLIM and SGA Criteria.

Objectives: This study aimed to assess the prevalence and risk factors associated with disease-related malnutrition (DRM) in hospitalized patients using the Subjective Global Assessment (SGA) and Global Leadership Initiative on Malnutrition (GLIM) criteria. Additionally, we sought to identify key determinants of moderate and severe malnutrition.

Methods: A retrospective analysis was conducted on 1036 adult patients hospitalized in a tertiary care hospital between August 2019 and November 2020.

Comparison of the effectiveness of three different skin substitutes for the treatment of pediatric burns.

Unlabelled: Early debridement of partial-thickness burns and coverage with skin substitutes is currently the standard of care in children, although there is currently no "gold standard" skin substitute. Our aim is to compare the effectiveness of three different skin substitutes, analyzing the medium- and long-term outcomes.

Methods: A retrospective study was conducted on burn patients under 18 years admitted to our Burn Unit between 2015 and 2021, who were divided into 3 groups according to the type of skin substitute used (EZ-derm®, Biobrane®, and Suprathel®).

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine, and valine. Despite its profound metabolic implications, the molecular alterations underlying this metabolic impairment had not yet been completely elucidated. We performed a comprehensive multi-omics integration analysis, including genomic, epigenomic, and transcriptomic data from fibroblasts derived from a cohort of MSUD patients and unaffected controls to genetically characterize an MSUD case and to unravel the MSUD pathophysiology.

Uncovering cellular senescence as a therapeutic target in NF2-related vestibular schwannoma.

Background: Vestibular schwannomas (VS) are complex and heterogeneous human tumors arising from the Schwann cell compartment of the vestibulocochlear nerve. VS cause significant neurological deficit such as hearing loss and vestibular impairment, and in some cases death due to brainstem compression. There is an urgent need to find pharmacotherapies for VS since surgical removal and stereotactic radiosurgery are the only effective treatments.

Technical challenges of intracellular flow cytometry-based assays as a functional complement to diagnosis of signaling defects of inborn errors of immunity: PI3K pathway as a case of study.

Background: The use of next-generation sequencing in inborn errors of immunity (IEI) has considerably increased the identification of novel gene variants, many of which are identified in patients without the described clinical phenotype or with variants of uncertain pathogenic significance in previously described genes. Properly designed functional and cellular assays, many necessarily accomplished by research-based laboratories, reveal the pathogenic consequences of the gene variants and contribute to diagnosis. Activated PI3Kδ syndrome (APDS) is a rare disease that can be divided into APDS1, caused by gain of function (GOF) mutations in gene, and APDS2, with loss of function (LOF) variants in the gene.

The Perspective of Young Maghrebi People With a Migratory Background and Their Social Agents on Substance Use During the Migration Process: A Qualitative Study.

Introduction: People with a migratory background often face traumatic experiences increasing the risk of mental health problems and substance use. It is important to gain a greater understanding of the perspectives of substance use among North African young people with a migratory background and social agents.

Methodology: A qualitative phenomenological study was conducted.

Burden of incidental cerebral aneurysms on lifestyle and quality of life: a survey of patients in expectant management (the SPICE Study).

Background: The increasing availability of neuroimaging tests has led to a rise in the identification of incidental unruptured intracranial aneurysms (UIAs). Their management is under debate, with no consensus on their follow-up strategy, which can cause anxiety in patients. Our aim is to evaluate the impact of diagnosis and imaging follow-up on daily activities and quality of life.