RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.

A biochemical deficiency of mitochondrial complex I (CI) underlies approximately 30% of cases of primary mitochondrial disease, yet the inventory of molecular machinery required for CI assembly remains incomplete. We previously characterised patients with isolated CI deficiency caused by segregating variants in RTN4IP1, a gene that encodes a mitochondrial NAD(P)H oxidoreductase. Here, we demonstrate that RTN4IP1 deficiency causes a CI assembly defect in both patient fibroblasts and knockout cells, and report that RTN4IP1 is a bona fide CI assembly factor.

National Cancer Database analysis of gallbladder cancer: Evaluating survival benefit of chemotherapy in early-stage gallbladder cancer.

Background: For locally advanced gallbladder cancer, previous clinical studies have demonstrated that chemotherapy results in significant survival benefits when compared to surgery alone. However, data demonstrating a similar survival benefit with early-stage gallbladder cancer is limited. This study seeks to evaluate the impact chemotherapy has on survival in patients with early-stage gallbladder cancer using a large, multi-institution database.

Association of mortality and social deprivation index in patients undergoing emergency general surgery: Results from a regional healthcare system.

Introduction: Emergency General Surgery (EGS) has high complication and mortality rates and social factors have been associated with outcomes in national datasets. Social deprivation index (SDI) is a validated geographic area demographic index used to quantify variations in healthcare. We sought to examine the association of SDI with mortality of high-risk EGS procedures at a regional level across a large integrated healthcare system.

Electrical Muscle Stimulation With or Without Blood Flow Restriction Does Not Prevent the Impairment in Glycemic Control After 1 Week of Physical Inactivity.

Physical inactivity depresses glycemic control, an impairment that can be prevented with exercise. We investigated whether electrical muscle stimulation (EMS) with blood flow restriction (BFR) could similarly prevent the impairments in glycemic control associated with physical inactivity and whether this was effective for attenuating the loss of physical function after inactivity. Thirty-two participants underwent 1 week of step reduction (≤ 3000 steps/day) randomized to either no intervention (Control), twice daily EMS, or twice daily EMS with BFR (EMS + BFR).

Acute transcutaneous CO exposure: A feasibility study for the future investigation of CO-specific exercise adaptations.

Blood flow restricted (BFR) exercise induces musculoskeletal adaptations at reduced exercise loads. The role of hypercapnia during BFR remains unclear, due to difficulties in isolating this factor in vivo. We evaluated a hypercapnic model designed to raise CO levels similar to low-intensity exercise, while minimizing other exercise-induced effects (e.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder that is clinically and genetically heterogeneous. Genome sequencing identified bi-allelic MRPL49 variants in individuals from nine unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly, and retinal dystrophy. Complexome profiling of fibroblasts from affected individuals revealed reduced levels of the small mitochondrial ribosomal subunits and a more pronounced reduction of the large mitochondrial ribosomal subunits.

Biallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13related diseases remains unclear. We report 10 additional affected individuals from nine independent families, identifying four missense variants (including recurrent c.

10-Year outcomes of marginal ulcer formation and impact of gastrojejunostomy technique in Roux-en-Y gastric bypass.

Background: Marginal ulcers (MUs) are potential complications following Roux-en-Y gastric bypass (RYGB) surgery. Our institution performs 3 different laparoscopic gastrojejunal anastomosis (GJA) techniques. The aim of this study was to analyze the incidence of MUs between 25-mm circular stapler (CS), linear stapler (LS), and hand-sewn (HS) GJA techniques using data collected over a 10-year period.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.

Biallelic variants in cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder which is clinically and genetically heterogeneous. Genome sequencing identified biallelic variants in individuals from five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy. Complexome profiling of fibroblasts from affected individuals revealed reduced levels of the small and, a more pronounced reduction of, the large mitochondrial ribosomal subunits.

Biallelic variants in result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency.

Assessing Leg Blood Flow and Cardiac Output During Running Using Thermodilution.

Cardiac output (Q̇) and leg blood flow (Q̇) can be measured simultaneously with high accuracy using transpulmonary and femoral vein thermodilution with a single-bolus injection. The invasive measure has offered important insight into leg hemodynamics and blood flow distribution during exercise. Despite being the natural modality of exercise in humans, there has been no direct measure of Q̇ while running in humans.

Metabolic and Bariatric Surgery Outcomes in African American Patients: a Single Institution Experience.

Background: The incidence of obesity in African Americans (AAs) is higher than in non-AA in the USA. Previous studies using large national databases report that AA patients have worse outcomes than non-AA patients.

Objectives: To assess perioperative outcomes among AA patients after MBS at a center of excellence (COE) that serves a large, diverse patient population.

Classification machine learning to detect de facto reuse and cyanobacteria at a drinking water intake.

Harmful algal blooms (HABs) or higher levels of de facto water reuse (DFR) can increase the levels of certain contaminants at drinking water intakes. Therefore, the goal of this study was to use multi-class supervised machine learning (SML) classification with data collected from six online instruments measuring fourteen total water quality parameters to detect cyanobacteria (corresponding to approximately 950 cells/mL, 2900 cells/mL, and 8600 cells/mL) or DFR (0.5, 1 and 2 % of wastewater effluent) events in the raw water entering an intake.

Arabidopsis PROTODERMAL FACTOR2 binds lysophosphatidylcholines and transcriptionally regulates phospholipid metabolism.

Plant homeodomain leucine zipper IV (HD-Zip IV) transcription factors (TFs) contain an evolutionarily conserved steroidogenic acute regulatory protein (StAR)-related lipid transfer (START) domain. While the START domain is required for TF activity, its presumed role as a lipid sensor is not clear. Here we used tandem affinity purification from Arabidopsis cell cultures to demonstrate that PROTODERMAL FACTOR2 (PDF2), a representative member that controls epidermal differentiation, recruits lysophosphatidylcholines (LysoPCs) in a START-dependent manner.

Long-Term Statistical Process Monitoring of an Ultrafiltration Water Treatment Process.

As water treatment technology has improved, the amount of available process data has substantially increased, making real-time, data-driven fault detection a reality. One shortcoming of the fault detection literature is that methods are usually evaluated by comparing their performance on hand-picked, short-term case studies, which yields no insight into long-term performance. In this work, we first evaluate multiple statistical and machine learning approaches for detrending process data.

Nanoscale Three-Dimensional Imaging of Integrated Circuits Using a Scanning Electron Microscope and Transition-Edge Sensor Spectrometer.

X-ray nanotomography is a powerful tool for the characterization of nanoscale materials and structures, but it is difficult to implement due to the competing requirements of X-ray flux and spot size. Due to this constraint, state-of-the-art nanotomography is predominantly performed at large synchrotron facilities. We present a laboratory-scale nanotomography instrument that achieves nanoscale spatial resolution while addressing the limitations of conventional tomography tools.

Blood Flow-Restricted Training and Time Trial Performance: A Cohort Study of World-Class Rowers.

Introduction: This study aimed to explore the potential impact of incorporating blood flow restriction (BFR) training within a training block characterized by minimal high-intensity work on 2000-m rowing ergometer time trial (TT) performance in elite/world-class rowers. Physiological markers often associated with endurance performance (maximal aerobic capacity, V̇O 2max ; blood lactate thresholds and hemoglobin mass, Hb mass ) were measured to determine whether changes are related to an improvement in performance.

Methods: Using a quasi-experimental, observational study design (no control group), 2000-m TT performance, V̇O 2max , submaximal work rates eliciting blood lactate concentrations of ~2 and ~4 mmol·L -1 , and Hb mass were measured before and after 4 wk of noncompetitive season training, which included BFR rowing.

Investigating the Relevance of Maximal Speed and Acceleration in Varsity-Level Female Ice Hockey Players.

Purpose: To characterize and compare female ice hockey players' peak skating speed and acceleration ability during linear sprints and gameplay. We also sought to quantify the time spent at various speeds and the frequency of accelerations at different thresholds during games.

Methods: Seventeen varsity-level female ice hockey players (20 [1.

Altered carbohydrate oxidation during exercise in overreached endurance athletes is applicable to training monitoring with continuous glucose monitors.

Purpose: The purpose of the study was to investigate whether carbohydrate utilization is altered during exercise in overreached endurance athletes and examine the utility of continuous glucose monitors (CGM) to detect overreaching status.

Methods: Eleven endurance athletes (M:8, F:3) completed a 5-week training block consisting of 1 week of reduced training (PRE), 3 weeks of high-intensity overload training (POST), and 1 week of recovery training (REC). Participants completed a Lamberts and Lambert Submaximal Cycling Test (LSCT) and 5 km time-trial at PRE, POST, and REC time points, 15 min following the ingestion of a 50 g glucose beverage with glucose recorded each minute via CGM.

Exposure to air pollution as an environmental determinant of how Sjögren's disease is expressed at diagnosis.

Objectives: To analyse how the potential exposure to air pollutants can influence the key components at the time of diagnosis of Sjögren's phenotype (epidemiological profile, sicca symptoms, and systemic disease).

Methods: For the present study, the following variables were selected for harmonization and refinement: age, sex, country, fulfilment of 2002/2016 criteria items, dry eyes, dry mouth, and overall ESSDAI score. Air pollution indexes per country were defined according to the OECD (1990-2021), including emission data of nitrogen and sulphur oxides (NO/SO), particulate matter (PM2.