Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Most complex V subunits are nuclear encoded and so far, were not found in association with recognized Mendelian disorders. ATP5PO is a candidate gene for complex V mitochondrial disease. It encodes the oligomycin sensitivity-conferring protein (OSCP), an essential component of the "stalk" region that links the F1 and F0 domains of the ATP synthase complex.

Antibiotic exposure and drug-induced intracranial hypertension: a systematic review and meta-analysis.

Background/objectives: Drug-induced intracranial hypertension (DIH) is a rare condition that has been associated with several risk factors, including exposure to certain medications. Herein, we synthesised the literature-pooled quantitative risk of developing DIH with antibiotics use.

Subjects/methods: Medline, Embase, and Cochrane Library were searched (inception to June 2024).

The Elbow Ulnar Collateral Ligament Injury Prognosis Score.

Background: No model exists to predict which patients with elbow ulnar collateral ligament (UCL) injuries will successfully return to play (RTP) after nonoperative treatment. The reported rates for successful RTP after the nonoperative management of UCL injuries are limited and vary widely. Furthermore, patient and injury characteristics that influence the failure of nonoperative treatment have not been established.

Preoperative intensity-modulated radiation therapy in lower extremity soft tissue sarcomas with and without dose avoidance of uninvolved skin/subcutaneous tissue.

Background: The objective of this study was to evaluate whether dosimetric sparing of uninvolved normal tissues, including skin/subcutaneous flaps, affects acute and late toxicities in preoperative image-guided intensity-modulated radiation therapy (IG-IMRT) for lower extremity soft tissue sarcomas (LE-STS).

Methods: Patients with LE-STS from a phase 2 preoperative IG-IMRT trial (flap-sparing-IMRT, 2005-2009) and a prospectively maintained institutional database (standard-IMRT, 2005-2020) were propensity matched by age, sex, tumor size, grade, location, wound closure, and interval from IG-IMRT to surgery; all received 50 Gy in 25 fractions preoperatively. The primary outcome was major wound complication (MWC).

Metabolomics reveal distinct molecular pathways associated with future risk of Crohn's Disease.

Host - microbiome interactions are central to Crohn'sdisease (CD) pathogenesis; yet the early metabolic alterations that precededisease onset remain poorly defined. To explore preclinical metabolicsignatures of CD, we analyzed baseline serum metabolomic profiles in a nestedcase-control study within the Crohn's and Colitis Canada - Genetics, Environment, Microbiome (CCC-GEM) Project, a prospective cohort of 5,122 healthyfirst-degree relatives (FDRs) of CD patients. We included 78 individuals wholater developed CD and 311 matched FDRs who remained disease-free.

Navigating Cervical Cancer Risk in a Patient With Classic Congenital Adrenal Hyperplasia (CAH): A Case Report.

Cervical cancer is rarely reported in patients with congenital adrenal hyperplasia (CAH), a condition that may alter risk through hormonal and anatomical factors. When combined with human immunodeficiency virus (HIV), the risk of progression from cervical intraepithelial neoplasia (CIN) to invasive carcinoma may be amplified, yet remains underreported. We report the case of a 57-year-old woman with a history of classic CAH, HIV, cervical intraepithelial neoplasia grade III (CIN III), hypertension, and asthma who presented with abdominal pain and pneumaturia.

Treatment of type 2 diabetes in pregnancy: Do we need to use metformin?

Maternal type 2 diabetes (T2D) is associated with an increased risk of several pregnancy complications and its prevalence is rising globally. Metformin, an oral medication that is first-line therapy for T2D outside of pregnancy, has the potential to improve glycemic control and reduce insulin requirements, without contributing to maternal hypoglycemia or weight gain. However, it crosses the placenta, and up until recently, very few clinical trials existed that studied its role in T2D pregnancies.

Association of patient and physician characteristics with androgen-deprivation-therapy intensification in patients with de novo hormone-sensitive metastatic prostate cancer: A population-based study.

Introduction: Treatment intensification with androgen receptor signaling inhibitors and/or chemotherapy is guideline recommended for patients with de novo metastatic hormone-sensitive prostate cancer (mHSPC). However, most patients only receive androgen deprivation therapy monotherapy. The aim was to identify physician-, patient-, and tumor-related factors associated with the receipt of treatment intensification.

Histologic Transformation in Cancer: The Path for Clinical Translation.

Unlabelled: Lineage plasticity, a critical hallmark of cancer progression, enables tumor cells to evade inhibition of primary oncogenic pathways through histologic transformation. This adaptive process, driven by stemness-associated features and epigenetic reprogramming, poses significant challenges in treatment. Using non-small cell lung cancer and prostate cancer as models, we examine the utility of tissue and liquid biopsies in detecting histologic transformations and tailoring treatments to specific subtypes, which has profound clinical implications, potentially improving outcomes in patients with advanced, therapy-resistant disease.

Multiple Chronic Conditions Before Pregnancy and Risk of Adverse Maternal Health Outcomes: Population-Based Cohort Study.

Objective: To assess the risks of perinatal emergency department (ED) use, hospitalisation and severe maternal morbidity or mortality (SMM-M) associated with preconception MCC, according to the number of chronic conditions, complex MCC and co-occurring cardiometabolic conditions.

Design: Population-based cohort study.

Setting: Ontario, Canada.

Evaluating the process of care for persons admitted to Toronto area hospitals with acute severe ulcerative colitis.

Background: Acute severe ulcerative colitis (ASUC) is associated with significant morbidity. In patients with ulcerative colitis (UC), the estimated lifetime risk of developing severe colitis is 25%. Several gastrointestinal societies have provided recommendations on pathways of care for managing ASUC.

Longitudinal Effects of Mild Traumatic Brain Injury on the Gut Microbiome and Acoustic Startle Response in Male and Female Rats.

Traumatic brain injuries (TBI) frequently occur and can lead to lasting negative cognitive, physical, and mental health outcomes. The biological response to even mild TBIs (mTBI) includes well-characterized inflammatory sequelae that start immediately post-injury, remain for weeks, and can develop into long-term systemic inflammation. Studies have shown that TBI influences multiple physiological systems, including the gastrointestinal tract, through bidirectional communication modulated, in part, by the gut microbiome.

Radical nephroureterectomy vs kidney sparing surgery for upper tract urothelial carcinoma in solitary kidney patients: a multi-institutional analysis of the ROBUUST 2.0 registry.

Purpose: Radical nephroureterectomy (RNU) for upper tract urothelial carcinoma (UTUC) in solitary kidney patients is a rare and underreported scenario. This study aims to compare the outcomes of UTUC solitary kidney patients becoming anephric after RNU to those of patients undergoing kidney-sparing surgery (KSS).

Methods: Data from patients with a solitary kidney were retrieved from the ROBUUST 2.

Screening for Autism in Preterm Children: A Systematic Review.

Objective: Preterm children exhibit a higher prevalence of autism spectrum disorder (ASD) than the general population. The unique neurodevelopmental characteristics of preterm children present challenges in screening for and diagnosing ASD. To date, a systematic review of screening tools for ASD in this population has not been completed.

The CROCO (CROhn's Disease COhort Study) - study design and protocol.

Background: Crohn's disease (CD) is a chronic, relapsing and remitting inflammatory bowel disease that can be associated with significant bowel damage and disability. The Lémann Index (LI) is a validated tool for measuring cumulative bowel damage in CD patients through a comprehensive assessment of stricturing, penetrating and surgical lesions. However, prospective studies evaluating bowel damage progression in recently diagnosed CD patients remain limited.

A population-based analysis of patterns of care in patients with de novo muscle-invasive bladder cancer from Alberta, Canada.

Introduction: Approximately 25% of patients diagnosed with bladder cancer have muscle-invasive disease (MIBC). While real-world data have highlighted opportunities to improve curative-intent treatment rates, comprehensive population-level data in Canada are limited. This study aimed to assess patterns of care and outcomes in a real-world cohort of MIBC in Canada.

Minimally Invasive Surgery vs Medical Management Alone for Intracerebral Hemorrhage: The MIND Randomized Clinical Trial.

Importance: It remains uncertain whether surgical evacuation improves functional outcomes in patients with supratentorial intracerebral hemorrhage (ICH).

Objective: To compare the safety and efficacy of minimally invasive surgery with the Artemis Neuro Evacuation Device to guideline-based medical management alone for spontaneous supratentorial ICH.

Design, Setting, And Participants: The MIND open-label, multicenter randomized clinical trial randomized patients with spontaneous supratentorial ICH in a 2:1 ratio to either minimally invasive surgery or medical management alone.

Surgery versus surveillance: A quality-of-life analysis of patients with moderately dilated aortic root or ascending aorta.

Objectives: The impact of diagnosis and management of ascending thoracic aortic aneurysm (ATAA) on patients' quality of life (QoL) is not well characterized. This study aims to compare QoL with surgery versus surveillance in patients with moderate ATAAs.

Methods: Treatment In Thoracic Aortic aNeurysm: Surgery versus Surveillance is a multicentre randomized trial for patients with ATAA between 5.

Appraisal of online health information on intravenous iron: Are patients well-informed?

This study aimed to evaluate the quality, content, and readability of top-listed websites on intravenous (IV) iron. We conducted online searches for the term "iron infusion" using Google, Bing, and Yahoo. The search term was determined based on Google Trends data for March 2025.

Age-Related Changes in the Clinical Picture of Long COVID.

Background: This study evaluated the impact of aging on the frequency and prevalent symptoms of Long COVID, also termed post-acute sequelae of SARS-CoV-2, using a previously developed Long COVID research index (LCRI) of 41 self-reported symptoms in which those with 12 or more points were classified as likely to have Long COVID.

Methods: We analyzed community-dwelling participants ≥ 60 years old (2662 with prior infection, 461 controls) compared to participants 18-59 years (7549 infected, 728 controls) in the Researching COVID to Enhance Recovery adult (RECOVER-Adult) cohort ≥ 135 days post-onset.

Results: Compared to the Age 18-39 group, the adjusted odds of LCRI ≥ 12 were higher for the Age 40-49 group (odds ratio [OR] = 1.

Understanding Patient Priorities for Religious and Spiritual Needs During Radiation Therapy for Gynecological Malignancies.

Purpose: Addressing religion and spirituality (R/S) in the patient care setting has shown associations with health care outcomes and quality of life. Patients with gynecologic malignancies demonstrate increased distress and fear following treatment. The Faith or belief, Importance and Influence of spirituality, spiritual Community; and interventions to Address spiritual needs (FICA) Spiritual History Tool outlines 4 domains of assessment.