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.

An umbrella review of meta-analysis to understand the effect of coffee consumption and the relationship between stroke, cardiovascular heart disease, and dementia among its global users.

Coffee has long been popular worldwide. The rise in lifestyle-related diseases such as cardiovascular disease, diabetes, stroke, dementia, and others has motivated coffee usage and illness prevalence studies. Some studies show coffee consumers are at risk for such diseases, whereas others show its active components protect them.

Intravenous iron sucrose when administered to moderately anemic pregnant women raises the hemoglobin concentration and replenishes body iron at 6 months.

Introduction: Intravenous iron sucrose (IVIS) is a rapidly acting, safe, and effective treatment for moderate anemia among pregnant women. The effectiveness of IVIS at 6 months post IVIS infusion was unknown. We, therefore, assessed the mean increase in hemoglobin concentration and body iron replenishment status at 6 months after the last dose of IVIS infusion.

Enhancing Anemia Detection With Non-invasive Anemia Detection With AI (NiADA): Insights From Clinical Validations and Physician Observations.

Background Anemia, a critical public health issue, affects nearly two billion people globally. Frequent monitoring of blood hemoglobin levels is essential for managing its burden. While point-of-care testing (POCT) devices facilitate hemoglobin testing in resource-limited settings, most are invasive and have inherent limitations.

Efficacy and safety of tildrakizumab for the treatment of moderate-to-severe plaque psoriasis of the scalp: Week 52 results from a phase 3b, randomized, double-blind, placebo-controlled trial.

Background: In the primary analysis of a phase 3b, randomized, double-blind, placebo-controlled study in patients with moderate-to-severe plaque psoriasis affecting the scalp (NCT03897088), tildrakizumab, an anti-interleukin-23 p19 antibody, met the primary efficacy endpoint at week 16.

Objective: To evaluate maintenance of tildrakizumab efficacy and safety for the treatment of scalp psoriasis from the week 52 full analysis.

Methods: Patients randomized to tildrakizumab continued receiving tildrakizumab 100 mg every 12 weeks; patients randomized to placebo (analyzed separately) switched to tildrakizumab 100 mg at week 16.

Antiracist activism for immigrant rights and healthy coping: Initial evidence for a community-based framework.

Racist and xenophobic policies in the United States (e.g., family separations and lack of access to protected immigration statuses for undocumented immigrants) have historically excluded immigrants of color from accessing full civil rights, thus contributing to widening racial inequities in the US.

Distressing Aspects of Elder Abuse Victimization: Perspective of Survivors.

Objectives: Our understanding of elder abuse (EA) phenomena has largely been shaped from the perspective of researchers and professionals whose conceptualizations often differ from the perceptions of older adults who experience mistreatment. This study sought to understand the most distressing aspects of EA victimization from the perspective of survivors.

Methods: Using a descriptive phenomenological approach, individual interviews were conducted with a diverse sample ( = 32) of EA survivors, recruited from EA support and Adult Protective Services programs in New York City and Los Angeles.

Integrated Analysis of Vonoprazan Safety for Symptomatic Gastro-Oesophageal Reflux Disease or Erosive Oesophagitis.

Background: Patients with erosive oesophagitis, and those with persistent symptomatic non-erosive gastro-oesophageal reflux disease, require long-term maintenance treatment with acid-suppressing agents.

Aim: To evaluate the safety of vonoprazan, a potassium-competitive acid blocker, in an integrated analysis of data from clinical trials in adults.

Methods: We included 14 clinical trials of vonoprazan conducted in multiple countries.

Intraoperative patient-specific volumetric reconstruction and 3D visualization for laparoscopic liver surgery.

Despite the benefits of minimally invasive surgery, interventions such as laparoscopic liver surgery present unique challenges, like the significant anatomical differences between preoperative images and intraoperative scenes due to pneumoperitoneum, patient pose, and organ manipulation by surgical instruments. To address these challenges, a method for intraoperative three-dimensional reconstruction of the surgical scene, including vessels and tumors, without altering the surgical workflow, is proposed. The technique combines neural radiance field reconstructions from tracked laparoscopic videos with ultrasound three-dimensional compounding.

Outcomes following functionally aligned total knee arthroplasty in severe varus deformity.

Introduction: Total knee arthroplasty (TKA) in severe varus deformity still remains a challenge. Alternative alignment TKA aims to improve outcomes and satisfaction. The purpose of this study is to report on the outcomes of a functionally aligned TKA in severe varus deformity.

Wastewater-based estimation of temporal variation in shedding amount of influenza A virus and clinically identified cases using the PRESENS model.

Wastewater-based estimation of infectious disease prevalence in real-time assists public health authorities in developing effective responses to current outbreaks. However, wastewater-based estimation for IAV remains poorly demonstrated, partially because of a lack of knowledge about temporal variation in shedding amount of an IAV-infected person. In this study, we applied two mathematical models to previously collected wastewater and clinical data from four U.

A Queen City Legacy: 45 Years of Research in Pregnant Women with Insulin-Dependent Diabetes Mellitus, The Diabetes in Pregnancy Program Project Grant.

The Diabetes in Pregnancy Program Project Grant (PPG) was a 15-year program focused on enhancing the care for women with insulin-dependent diabetes mellitus (IDDM) during pregnancy and improving the well-being of their offspring. Launched in July 1978 at the University of Cincinnati, the PPG pursued a multifaceted research agenda encompassing basic science, animal and placental studies, and maternal and neonatal clinical trials to understand the physiological and pathophysiological aspects of IDDM during pregnancy. A total of 402 singleton pregnancies in 259 women with IDDM were enrolled prior to 10 weeks gestation over the 15-year period.

Is Pregnancy a Risk Factor for Progression of Diabetic Retinopathy and Nephropathy in Type 1 Diabetes? A Matched Cohort Study.

Objective:  This study aimed to test the hypothesis that the development or deterioration of nephropathy and retinopathy over time is not affected by pregnancy in women with pregestational type 1 diabetes mellitus (T1DM).

Study Design:  Prospective, observational study of nephropathy and retinopathy follow-up during pregnancy and in a subsequent period of 2 years in a group of pregnant women with T1DM (study group) that we compared with pair-matched non-pregnant women with T1DM (control group) who underwent similar intensive follow-up.

Results:  The rate of renal microvascular complications was similar at entry, 17.

Ursolic Acid as a Protective Agent Against UVB-Induced Metabolic and Epigenetic Alterations in Human Skin Keratinocytes: An Omics-Based Study.

This study aimed to assess how ursolic acid (UA) can protect human skin keratinocytes from damage caused by ultraviolet B (UVB) radiation. Utilizing an omics-based approach, we characterized the features of photodamage and investigated the potential of UA to reverse HaCaT cell subpopulation injury caused by UVB radiation. The most significant changes in metabolite levels after UA treatment were in pathways associated with phosphatidylcholine biosynthesis, arginine and proline metabolism.

The MPCETT: Assessing the Safety and Utility of Exercise Tolerance Testing in Children With Concussion Ages 6 to 12.

Objective: Treadmill test protocols for concussion assessment have been validated for patients aged 13 years and older; however, no evidence-based guidelines exist for younger children. We designed and assessed the safety and utility of the Morahan Pediatric Concussion Exercise Tolerance Test (MPCETT) for assessing exercise tolerance in symptomatic children (SC) and recovered, asymptomatic children (AC) from 6 to 12 years of age.

Design: Retrospective case series.

Identifying a Genetic Link Between Lung Function and Psoriasis.

Introduction: The common genetic underpinnings of psoriasis and pulmonary comorbidities have yet to be explored.

Material And Methods: In this cross-sectional study, we investigated the single-nucleotide polymorphisms (SNPs) associated with psoriasis and their relationship with pulmonary function using data from the UK Biobank (UKBB) and the Vanderbilt University Medical Center Biobank (BioVU).

Results: Out of the 63 psoriasis-associated SNPs identified in previous genome-wide association studies within the European population, we successfully identified 53 SNPs, including proxy SNPs in UKBB database.

Characterizing the Relationships Amongst Psychological Safety, the Learning Environment, and Well-Being in Surgical Faculty and Trainees.

Objective: Learning environments affect the well-being of surgical faculty and trainees. Psychological safety (PS) has been linked with learning behaviors and aspects of well-being within medicine; however, given the unique challenges inherent to the surgical learning environment, there is a need to more closely examine these concepts for surgical faculty and trainees. The objective of this study is to examine the relationships between learning environment and PS, as well as PS and well-being with surgery.

Retinal Vascular Permeability in Diabetic Subjects without Retinopathy Compared with Mild Diabetic Retinopathy and Healthy Controls.

Objective: To investigate retinal vascular permeability mapping as a potential biomarker for diabetic retinopathy in subjects with diabetes with no signs of retinopathy and with mild nonproliferative retinopathy.

Design: This is a case-control study.

Subjects: Participants included 7 healthy controls, 22 subjects with diabetes mellitus and no clinical signs of retinopathy (DMnoDR), and 7 subjects with mild nonproliferative diabetic retinopathy (NPDR).

Pancreaticoduodenectomy in trauma patients with grade IV-V duodenal or pancreatic injuries: a post hoc analysis of an EAST multicenter trial.

Introduction: The utility of pancreaticoduodenectomy (PD) for high-grade traumatic injuries remains unclear and data surrounding its use are limited. We hypothesized that PD does not result in improved outcomes when compared with non-PD surgical management of grade IV-V pancreaticoduodenal injuries.

Methods: This is a retrospective, multicenter analysis from 35 level 1 trauma centers from January 2010 to December 2020.

Reddit Perspectives on Tonsillectomy Procedure: Sentiment and Thematic Analysis.

Introduction: Every year, 530,000 tonsillectomies are performed in the United States. Many patients use social media for medical advice and support. This study investigates Reddit perspectives to identify the current needs of tonsillectomy patients.