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.

Status Epilepticus with Fever in a Toddler with Pyogenic Meningitis Due to Complicated Acute Sphenoid Sinusitis.

We present a toddler with acute sphenoid sinusitis presenting as status epilepticus with fever, intracranial abscess and meningitis. Cerebrospinal fluid analysis suggested bacterial meningitis, but polymerase chain reaction test was positive for human herpes virus 6. We highlight diagnosis and treatment of this uncommon condition.

Exploring disparities in healthcare utilization, cancer care experience, and beliefs about cancer among asian and hispanic cancer survivors.

Purpose: Significant disparities exist in cancer detection, treatment, and outcomes for racial/ethnic minoritized groups in the US. The objective of this study was to explore racial/ethnic disparities in healthcare utilization, cancer care experiences, and beliefs about cancer in patients diagnosed with cancer among diverse racial/ethnic groups in the US.

Methods: Data from the Health Information National Trends Survey -Surveillance, Epidemiology, and End Results (HINTS-SEER 2021) were analyzed for 1,108 cancer survivors.

Memory complaints after COVID-19: a potential indicator of primary cognitive impairment or a correlate of psychiatric symptoms?

Cognitive impairment and symptoms of psychiatric disorders have been reported frequently as features of post-acute sequelae of SARS-CoV-2 infection. This study aims to investigate subjective memory complaints in COVID-19 survivors and determine if these are more strongly associated with objective cognitive impairment related to sequelae of SARS-CoV-2 infection or with symptoms of psychiatric conditions. A total of 608 COVID-19 survivors were evaluated in-person 6-11 months after hospitalization, with 377 patients assigned to a "no subjective memory complaint (SMC)" group and 231 patients assigned to an SMC group based on their Memory Complaint Scale scores.

Sexual Misconduct by Board Certified Family Physicians.

Purpose: Sexual misconduct by physicians is a consequential violation of patient trust. The purpose of this study was to determine the frequency and patterns of sexual misconduct by physicians certified by the American Board of Family Medicine (ABFM).

Methods: We described a cohort of current or formerly ABFM certified physicians ("Diplomates") disciplined for sexual misconduct in 2016 to 2022.

Development and Validation of a Pediatric Celiac Disease-Specific Quality of Life Measure.

Introduction: Quality of life (QOL) is critical in screening and management of chronic medical conditions, including celiac disease (CD). The aim of this project was to develop a CD-specific pediatric QOL measure (Celiac Disease Life Inventory of Family Experiences [CDLIFE]) with parallel self-report and parent-report forms by generating items through concept elicitation interviews, iterative refinement using cognitive debriefing interviews, and evaluating its psychometric properties and validity.

Methods: Concept elicitation interviews were conducted to develop items (9 youth ages 8-19 years with CD; 10 parents of youth with CD), followed by cognitive interviews with additional stakeholders (3 youth with CD, 3 parents, and 8 clinicians) and item administration (parent/youth reports: n = 103/102).

A T cell receptor specific for an HLA-A*03:01-restricted epitope in the endogenous retrovirus ERV-K-Env exhibits limited recognition of its cognate epitope.

Transposable elements (TEs) are often expressed at higher levels in tumor cells than normal cells, implicating these genomic regions as an untapped pool of tumor-associated antigens. In ovarian cancer (OC), protein from the TE ERV-K is frequently expressed by tumor cells. Here we determined whether the targeting of previously identified epitope in the envelope gene (env) of ERV-K resulted in target antigen specificity against cancer cells.

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Objective: In individuals with urea cycle disorders (UCDs) and neonatal disease onset, extracorporeal detoxification by continuous kidney replacement therapy is considered the therapeutic method of choice in addition to metabolic emergency treatment to resolve hyperammonemic decompensation. However, the indications for the initiation of dialysis are heterogeneously implemented transnationally, thereby hampering our understanding of (optimal) short-term health outcomes.

Methods: We performed a retrospective comparative analysis evaluating the therapeutic effects of initial dialysis on survival as well as neurocognitive outcome parameters in individuals with UCDs in comparison to a severity-adjusted non-dialyzed control cohort.

The Effect of Step Stool Use on Chest Compression Quality During CPR in Young Children: Findings From the Videography in Pediatric Emergency Research (VIPER) Collaborative.

Objective: This study aimed to determine the effect of stepstool use on chest compression (CC) quality during cardiopulmonary resuscitation (CPR) in young children.

Methods: We conducted a prospective observational study of children <8 years of age who received CC for >2 minutes in the emergency department. Data were collected through CC monitor device and video review.

Eosinophils as modulators of host defense during parasitic, fungal, bacterial, and viral infections.

Eosinophils, traditionally associated as central innate effector cells with type 2 immunity during allergic and helminth parasitic diseases, have recently been revealed to have important roles in tissue homeostasis as well as host defense in a broader variety of infectious diseases. In a dedicated session at the 2023 biennial conference of the International Eosinophil Society titled "Eosinophils in Host Defense," the multifaceted roles eosinophils play against diverse pathogens, ranging from parasites to fungi, bacteria, and viruses, were presented. In this review, the session speakers offer a comprehensive summary of recent discoveries across pathogen classes, positioning eosinophils as pivotal leukocytes in both host defense and pathology.

HIV-1 latency reversal and immune enhancing activity of IL-15 is not influenced by sex hormones.

The role of different biological variables including biological sex, age, and sex hormones in Human immunodeficiency virus (HIV) cure approaches is not well understood. The γc-cytokine IL-15 is a clinically relevant cytokine that promotes immune activation and mediates HIV reactivation from latency. In this work, we examined the interplay that biological sex, age, and sex hormones 17β-estradiol, progesterone, and testosterone may have on the biological activity of IL-15.

Predicting Abrocitinib Efficacy at Week 12 Based on Clinical Response at Week 4: A Post Hoc Analysis of Four Randomized Studies in Moderate-to-Severe Atopic Dermatitis.

Introduction: Early prediction of abrocitinib efficacy in atopic dermatitis (AD) could help identify candidates for an early dose increase. A predictive model determined week 12 efficacy based on week 4 responses in patients receiving abrocitinib 100 mg/day and assessed the effect of an abrocitinib dose increase on platelet counts.

Methods: Analysis included the phase 3 trials JADE MONO-1 (NCT03349060), MONO-2 (NCT03575871), COMPARE (NCT03720470), and TEEN (NCT03796676).

Osteopathic Students Have Decreased Match Rates in Orthopaedic Surgery Compared with Allopathic Students.

Introduction: Orthopaedic surgery continues to be one of the most competitive specialties to match into as a medical student, particularly for osteopathic medical students. Therefore, in this study, we sought to examine the prevalence of osteopathic students (DO) matching into orthopaedic surgery at traditional Accreditation Council for Graduate Medical Education (ACGME) accredited programs (former allopathic residency programs) in recent years.

Methods: A retrospective review of National Residency Match Program annual reports and Association of American Medical Colleges's Electronic Residency Application Service Statistic reports were performed to determine the number of applications and match rates among osteopathic (DO) and allopathic (MD) medical students into orthopaedic surgery from 2019 to 2023.

Perspectives on competency-based feedback for training non-specialists to deliver psychological interventions: multi-site qualitative study of the EQUIP competency-based approach.

Background: The use of feedback to address gaps and reinforce skills is a key component of successful competency-based mental health and psychosocial support intervention training approaches. Competency-based feedback during training and supervision for personnel delivering psychological interventions is vital for safe and effective care.

Aims: For non-specialists trained in low-resource settings, there is a lack of standardised feedback systems.

GABA-edited MEGA-PRESS at 3 T: Does a measured macromolecule background improve linear combination modeling?

Purpose: The J-difference edited γ-aminobutyric acid (GABA) signal is contaminated by other co-edited signals-the largest of which originates from co-edited macromolecules (MMs)-and is consequently often reported as "GABA+." MM signals are broader and less well-characterized than the metabolites, and are commonly approximated using a Gaussian model parameterization. Experimentally measured MM signals are a consensus-recommended alternative to parameterized modeling; however, they are relatively under-studied in the context of edited MRS.

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

Background: Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently "asymptomatic" with limited studies of their clinical characteristics and long-term health vulnerabilities. Multimodal neuroimaging studies and executive function testing have shown that asymptomatic females exhibit limitations when stressed to perform at higher cognitive load and had reduced activation of the prefrontal cortex.

Contextual Factors Relevant to Implementing Social Risk Factor Screening and Referrals in Cancer Survivorship: A Qualitative Study.

Introduction: Social risk factors such as food insecurity and lack of transportation can negatively affect health outcomes, yet implementation of screening and referral for social risk factors is limited in medical settings, particularly in cancer survivorship.

Methods: We conducted 18 qualitative, semistructured interviews among oncology teams in 3 health systems in Washington, DC, during February and March 2022. We applied the Exploration, Preparation, Implementation, Sustainment Framework to develop a deductive codebook, performed thematic analysis on the interview transcripts, and summarized our results descriptively.