Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.

Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.

Use of a Nutritional Risk Assessment Tool to Guide Early Enteral Nutrition among Mechanically Ventilated Trauma Patients.

Background: The Modified Nutritional Risk in Critically Ill (mNUTRIC) score has been proposed as a tool to identify hospitalized patients at risk for malnutrition who may benefit from early enteral nutrition (EN) therapy.

Objective: Our goal was to determine if mNUTRIC scores could predict, at time of intensive care unit admission, which mechanically ventilated trauma patients were at risk for malnutrition and might benefit from early EN, as indicated by reduced mortality.

Methods: We conducted a retrospective chart review of all adult trauma patients requiring mechanical ventilation for at least 48 hours between 01/21/2012 and 12/31/2016, reviewing inpatient medical records, demographic data, disease markers, injury severity, and comorbidities.

Outcomes of an Emergency Department opioid alternatives Program implemented within a safety-net hospital system.

Background: The ongoing opioid epidemic in the United States has reinforced the need to provide multimodal and non-opioid pain management interventions. The PAMI-ED ALT program employed a multifaceted approach in the Emergency Department (ED) developing electronic health record (EHR) pain management order panels and discharge panels, as well as educating patients, clinicians, and ED staff on opioid alternatives, including non-pharmacologic interventions. The primary objective of this analysis was to compare changes in opioid and non-opioid analgesic administrations and prescribing in ED patients with select pain conditions (renal colic, headache, low back, and non-low back musculoskeletal pain) before and after implementation of PAMI ED-ALT.

The Prognostic Role of HPV or p16INK4a Status in Penile Squamous Cell Carcinoma: A Meta-Analysis.

Background: HPV infection is implicated in approximately half of global penile squamous cell carcinoma (PSCC) cases. Previous studies on HPV DNA and p16INK4a status in PSCC have yielded inconclusive prognostic findings. This meta-analysis aims to elucidate the prognostic role of HPV in PSCC by pooling data on disease-free survival (DFS), disease-specific survival (DSS), and overall survival (OS).

Pediatric Organ Donation, Transplantation, and Updated Brain Death Criteria: An Overview for Pediatricians.

Pediatricians follow patients longitudinally and hold a unique position to address multiple issues, medical and psychosocial, that affect organ donation and transplantation. They are wellpositioned to provide anticipatory guidance during well-child visits and during care for children with end-stage organ failure and can either assist these patients with ongoing medical management or refer these patients for organ transplantation assessment. A pediatrician's trusted relationship with families and patients allows for guidance on medical and ethical issues surrounding brain death, organ donation, and transplantation.

Factors Associated with Pediatric Drowning-Associated Lung Injury.

Objective: To identify risk factors for clinically-important drowning-associated lung injury (ciDALI) in children.

Study Design: This was a cross-sectional study of children (0 through18 years) who presented to 32 pediatric emergency departments (EDs) from 2010 through 2017. We reviewed demographics, comorbidities, prehospital data, chest radiographs reports, and ED course from emergency medical services, medical, and fatality records.

Tissierella Bacteremia in the Setting of Polymicrobial Osteomyelitis.

We present a case of bacteremia in the setting of polymicrobial osteomyelitis. is a Gram-variable bacterium that has been rarely documented as the etiologic organism in human infections such as septic arthritis or otitis media, and even more rarely reported as an organism associated with bacteremia. The patient presented with septic shock and the physical exam was notable for gangrene of bilateral feet.

Intragastric balloon adverse events: a comprehensive MAUDE database review.

Background: Endoscopic bariatric interventions are viable alternatives to traditional weight loss surgeries for patients with a body mass index between 30 and 40 kg/m. While studies have explored the impact of intragastric balloons on obesity and weight reduction, comprehensive data on real-world device-related complications and failures are limited. This study aimed to investigate mechanical failures leading to patient adverse events reported to the US Food and Drug Administration.

The Family Anesthesia Experience (FAX): Implementing a Social Support-Focused Wellness Programme Across Multiple Residency Programmes.

Introduction: Lack of social support negatively impacts medical trainees' wellness. Programmes to educate medical trainees and their support persons (SPs) have been developed to improve resident wellness, but implementation of these programmes at other institutions remains unclear. We aimed to demonstrate the feasibility of implementing the Family Anesthesia Experience (FAX) programme across multiple institutions and to assess the programme's utility.

Clinical use of donor-derived cell-free DNA in kidney transplantation.

Traditional monitoring of kidney transplant recipients for allograft dysfunction caused by rejection involves serial checks of serum creatinine with biopsy of the renal allograft if dysfunction is suspected. This approach is labor-intensive, invasive and costly. In addition, because this approach relies on a rise in serum creatinine above historical baselines, injury to the allograft can be extensive before this rise occurs.

Updated analysis of the pharmacogenomics of pediatric bronchodilator response.

This short communication serves as an update to previously published pilot study results on bronchodilator response (BDR) in children with asthma. We expanded our cohort from 54 to 165 pediatric patients seeking emergency department care for an asthma exacerbation. We obtained measured BDR before and after albuterol administration using the Pediatric Asthma Severity Score and collected genomic DNA.

Peritraumatic C-reactive protein levels predict pain outcomes following traumatic stress exposure in a sex-dependent manner.

Background: Chronic pain following traumatic stress exposure (TSE) is common. Increasing evidence suggests inflammatory/immune mechanisms are induced by TSE, play a key role in the recovery process versus development of post-TSE chronic pain, and are sex specific. In this study, we tested the hypothesis that the inflammatory marker C-reactive protein (CRP) is associated with chronic pain after TSE in a sex-specific manner.

Switching Platelet P2Y Receptor Inhibiting Therapies.

Antiplatelet therapy involving aspirin and a P2Y receptor inhibitor is fundamental in managing patients with atherothrombotic disease. Switching between P2Y inhibitors is frequently observed in clinical settings for various reasons, such as safety, efficacy, patient adherence, or cost concerns. Although it occurs often, the optimal method for switching remains a concern owing to potential drug interactions, which can result in either inadequate platelet inhibition and subsequent thrombotic events or low platelet reactivity and increased bleeding risks due to therapy overlap.

Optimizing Dental Care for Adults With Intellectual and Developmental Disabilities: Challenges, Strategies, and Preventative Approaches.

Individuals with intellectual and developmental disabilities (IDD) often face numerous barriers to dental care, leading to higher rates of untreated caries and periodontal disease. This editorial explores the challenges associated with dental care for individuals with intellectual disabilities and suggests methods to enhance their dental care. Preventive dental care is crucial for maintaining health.

Specialized Infrared Camera-Computer System (SPY) Imaging for Monitoring the Restoration of Nipple Sensation in Patients Undergoing Breast Reduction.

Introduction Symptomatic mammary hypertrophy (SMH) refers to excessive breast weight exceeding 3% of total body weight, impacting not only the breast but also the nipples and areola. Breast reduction surgery (BRS) has a complication that adversely affects the nipple-areolar complex (NAC) sensation. The purpose of this study was to estimate the degree to which the specialized infrared camera-computer system (SPY) may predict postoperative sensation of the NAC following BRS.

A Case of a Rheumatoid Arthritis Patient on Newly Initiated Tumor Necrosis Factor Inhibitor Treatment Developing Granulomatosis With Polyangiitis Vasculitis: A Conundrum About Disease Overlap or Drug-Induced Vasculitis.

Granulomatosis with polyangiitis (GPA) is a necrotizing vasculitides subset of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAVs) that involves small-sized arteries affecting multisystemic organs. Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by inflammatory polyarthritis involving the small joints. GPA and RA can have overlapping clinical presentations, including vasculitis, ocular inflammation, interstitial lung disease, and arthritis, but existing evidence indicates they are distinct conditions.