Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.

Current Utilization of Bupropion Treatment in Children, Young Adults, and Adults in the United States.

While available for decades, the use of bupropion has increased in recent years. To provide an updated review on the use of bupropion, this article aimed to describe bupropion prescription details, potential indication, and treatment duration in children, young adults, and adults starting bupropion treatment. Individuals aged 6-64 newly initiating bupropion hydrochloride treatment were identified from commercial claims data (MarketScan, 1/1/2016-12/31/2022).

Stimulating Soluble Guanylyl Cyclase with the Clinical Agonist Riociguat Restrains the Development and Progression of Castration-Resistant Prostate Cancer.

Castration-resistant prostate cancer (CRPC) is incurable and fatal, making prostate cancer the second leading cancer-related cause of death for American men. CRPC results from therapeutic resistance to standard-of-care androgen deprivation (AD) treatments, through incompletely understood molecular mechanisms, and lacks durable therapeutic options. In this study, we identified enhanced soluble guanylyl cyclase (sGC) signaling as a mechanism that restrains CRPC initiation and growth.

Evaluation and estimation of diuretic activity of the linalyl acetate in the rats.

This study aimed to explore the diuretic activity of linalyl acetate (LA). LA is an essential oil, it is an integral phyto-constituent of various plants. In this study, acute and chronic diuretic activities were explored by measuring the levels of different electrolytes and pH in the urine of experimental rats.

Disparities in lung cancer short- and long-term outcomes after surgery: Analysis from the national cancer database.

Introduction: Social determinants of health are particularly important in lung cancer epidemiology. Previous studies have primarily associated social determinants with long-term outcomes, such as survival, but fail to include short-term outcomes after surgery. The National Cancer Database (NCDB) was used to draw associations between social factors of patients with lung cancer and short-term post-surgical outcomes, while comparing them to prognostic factors, including stage at diagnosis and survival.

EyeArt artificial intelligence analysis of diabetic retinopathy in retinal screening events.

Purpose: Early detection and treatment of diabetic retinopathy (DR) are critical for decreasing the risk of vision loss and preventing blindness. Community vision screenings may play an important role, especially in communities at higher risk for diabetes. To address the need for increased DR detection and referrals, we evaluated the use of artificial intelligence (AI) for screening DR.

Features and protective efficacy of human mAbs targeting Mycobacterium tuberculosis arabinomannan.

A better understanding of the epitopes most relevant for antibody-mediated protection against tuberculosis (TB) remains a major knowledge gap. We have shown that human polyclonal IgG against the Mycobacterium tuberculosis (M. tuberculosis) surface glycan arabinomannan (AM) and related lipoarabinomannan (LAM) is protective against TB.

LonP1 Links Mitochondria-ER Interaction to Regulate Heart Function.

Interorganelle contacts and communications are increasingly recognized to play a vital role in cellular function and homeostasis. In particular, the mitochondria-endoplasmic reticulum (ER) membrane contact site (MAM) is known to regulate ion and lipid transfer, as well as signaling and organelle dynamics. However, the regulatory mechanisms of MAM formation and their function are still elusive.

Pulegone Prevents Hypertension through Activation of Muscarinic Receptors and Cyclooxygenase Pathway in L-NAME-Induced Hypertensive Rats.

The current study was designed to determine pulegone's antihypertensive and vasoprotective activity in L-NAME-induced hypertensive rats. Firstly, the hypotensive dose-response relationship of pulegone was evaluated in normotensive anesthetized rats using the invasive method. Secondly, the mechanism involved in hypotensive activity was determined in the presence of pharmacological drugs such as atropine/muscarinic receptor blocker (1 mg/kg), L-NAME/NOS inhibitor (20 mg/kg), and indomethacin/COX inhibitor (5 mg/kg) in anesthetized rats.

Imine Derivatives of Benzoxazole Attenuate High-Fat Diet-Induced Hyperlipidemia by Modulation of Lipid-Regulating Genes.

: Hyperlipidemia being the prominent risk factor of cardiovascular diseases and side effects associated with the current lipid-lowering drugs have attracted the interest of scientists in the quest for new alternatives. In view of the diverse pharmacological potentials of benzoxazole (BZX) compounds, this study was designed to evaluate the antihyperlipidemic activity of imine derivatives of BZX in high-fat diet (HFD)-fed rats. : Hyperlipidemia was induced in Sprague-Dawley rats by using HFD for 28 days.

Short-term high-fat diet feeding of mice suppresses catecholamine-stimulated Ca signalling in hepatocytes and intact liver.

Excess consumption of carbohydrates, fat and calories leads to non-alcoholic fatty liver disease (NAFLD) and hepatic insulin resistance; these are major factors in the pathogenesis of type II diabetes. Hormones and catecholamines acting through G-protein coupled receptors (GPCRs) linked to phospholipase C (PLC) and increases in cytosolic Ca ([Ca ] ) regulate many metabolic functions of the liver. In the intact liver, catabolic hormones such as glucagon, catecholamines and vasopressin integrate and synergize to regulate the frequency and extent to which [Ca ] waves propagate across hepatic lobules to control metabolism.

Pharmacological evaluation of anti-arthritic potential of terpinen-4-ol using in vitro and in vivo assays.

Terpinen 4-ol, a phytochemical is a monoterpene which has been reported for its anti-inflammatory effect. Present research was planned to check its effect against arthritis through in vitro and in vivo models. Terpinen 4-ol was evaluated through in-vitro procedures including blocking of protein (BSA and egg albumin) denaturation and human RBC membrane stabilization.

Public health issues with in COVID-19 patients.

The ongoing pandemic of coronavirus disease 2019 (COVID-19) has overwhelmed a number of medical facilities as well as a few entire health-care systems. A novel issue co-incident with the expeditious deployment of specialty care units for COVID-19 inpatients is the worldwide epidemic of infections. Since its first identification and classification in Japan in 2009, it has spread globally.

Force of lifelong crystalline lens growth: chronic traumatic mechanical insult to the choroid.

Purpose: To calculate the forces applied to the uvea and retina as a result of lifelong crystalline lens growth.

Design: Retrospective study.

Setting: MRI Research, Inc.

The Effect of Exoskeletal-Assisted Walking on Spinal Cord Injury Bowel Function: Results from a Randomized Trial and Comparison to Other Physical Interventions.

Bowel function after spinal cord injury (SCI) is compromised because of a lack of voluntary control and reduction in bowel motility, often leading to incontinence and constipation not easily managed. Physical activity and upright posture may play a role in dealing with these issues. We performed a three-center, randomized, controlled, crossover clinical trial of exoskeletal-assisted walking (EAW) compared to usual activity (UA) in people with chronic SCI.

A Tale of two receptors.

Calcium (Ca) oscillations in hepatocytes have a wide dynamic range. In particular, recent experimental evidence shows that agonist stimulation of the P2Y family of receptors leads to qualitatively diverse Ca oscillations. We present a new model of Ca oscillations in hepatocytes based on these experiments to investigate the mechanisms controlling P2Y-activated Ca oscillations.

The Impact and Perception of Cell Phone Usage in a Teaching Hospital Setting.

Objective: To evaluate perceptions regarding cell phone use in a teaching hospital setting among health care providers, residents, medical students, and patients.

Methods: Fifty-three medical students, 41 resident physicians, 32 attending physicians, and 46 nurses working at University Hospital completed a questionnaire about cell phone use practices and their perceptions of cell phone use in the hospital. Forty-three inpatients admitted to medical/surgical units at University Hospital were surveyed at bedside about their perceptions regarding physicians' cell phone use.

Selective cysteines oxidation in soluble guanylyl cyclase catalytic domain is involved in NO activation.

Nitric oxide (NO) binds to soluble guanylyl cyclase (GC1) and stimulates its catalytic activity to produce cGMP. Despite the key role of the NO-cGMP signaling in cardiovascular physiology, the mechanisms of GC1 activation remain ill-defined. It is believed that conserved cysteines (Cys) in GC1 modulate the enzyme's activity through thiol-redox modifications.

A Trypanosoma brucei ORFeome-Based Gain-of-Function Library Identifies Genes That Promote Survival during Melarsoprol Treatment.

is an early branching protozoan parasite that causes human and animal African trypanosomiasis. Forward genetics approaches are powerful tools for uncovering novel aspects of trypanosomatid biology, pathogenesis, and therapeutic approaches against trypanosomiasis. Here, we have generated a cloned ORFeome consisting of >90% of the targeted 7,245 genes and used it to make an inducible gain-of-function parasite library broadly applicable to large-scale forward genetic screens.

Patient-Preferences Favoring Treatment Discontinuation Are Reduced With Vedolizumab and Ustekinumab Compared With TNF Antagonists in Inflammatory Bowel Disease.

Background: Nonadherence to biologic therapy in inflammatory bowel disease (IBD) is associated with risk of relapse, immunogenicity, and disease complications. Significant nonadherence prevalence is reported with tumor necrosis factor (TNF) antagonists but the risk of nonadherence with newer biologics with better safety profiles is unknown. This study aimed to investigate if IBD patient-preferences favoring biologic discontinuation vary by biologic class and analyze factors associated with such preferences.

Dual mechanisms of Ca oscillations in hepatocytes.

Calcium (Ca) oscillations in hepatocytes control many critical cellular functions, including glucose metabolism and bile secretion. The mechanisms underlying repetitive Ca oscillations and how these mechanisms regulate these oscillations is not fully understood. Recent experimental evidence has shown that both Ca regulation of the inositol 1,4,5-trisphosphate (IP) receptor and IP metabolism generate Ca oscillations and co-exist in hepatocytes.