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.

NOD1 signaling regulates early tissue inflammation during helminth infection.

The role of innate receptors in initiating the early inflammatory response to helminth larval stages in affected tissues during their life cycle within the host remains poorly understood. Given its pivotal role in detecting microbial elements and eliciting immune responses, exploring the NOD1 receptor could offer crucial insights into immune responses to parasitic infections. By using the larval ascariasis model, the acute model for early Ascaris sp.

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.

Severity of Vessel Color Changes and Macular and Peripheral Whitening in Malarial Retinopathy Are Associated with Higher Total Body and Sequestered Parasite Burdens.

Two-thirds of children with cerebral malaria (CM) exhibit retinopathy characterized by whitening, vessel color changes, and/or hemorrhages. The pathogenesis of malarial retinopathy is not fully understood. This study aimed to assess the relationship between malarial retinopathy and the severity of its components (macular whitening, retinal hemorrhages, and vessel color changes) with the total, circulating, or sequestered parasite load in children with CM.

Higher Modified Frailty Index Score is Associated with Increased 30-Day Postoperative Complications Following Surgical Treatment of Tibial Shaft Fractures.

Objectives: This study was conducted to determine if factors comprising the mFI were correlated with adverse outcomes following surgical intervention of tibial shaft fractures.

Methods: We identified patients 50 years or older with tibial shaft fractures that were managed surgically from a national database from 2007-2019. The 5-item mFI score, which comprised of diabetes, hypertension, congestive heart failure, dependent functional status, and chronic obstructive pulmonary disease, was calculated for each patient.

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). This project aimed to develop a CD-specific pediatric QOL measure ("CDLIFE") with parallel self- 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 (nine youth ages 8-19 with CD; 10 parents of youth with CD), followed by cognitive interviews with additional stakeholders (three youth with CD, three parents, and eight 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.

Bilateral Proximal Humerus Lesser Tuberosity Avulsions in an Adolescent Patient: A Case Report.

Case: Fourteen-year-old boy presented with bilateral proximal humerus lesser tuberosity avulsions after swinging between 2 desks. Injuries were not visualized on radiographs but identified on magnetic resonance imaging. He underwent bilateral open reduction and internal fixation of the bony avulsions.

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.

A randomized controlled trial analyzing nonthermal atmospheric plasma for the treatment of verruca vulgaris in pediatric patients.

Background: Verruca vulgaris (VV) is a common viral disease in children. Treatment options are often not well tolerated in children due to pain or adverse effect risk. Nonthermal atmospheric plasma (NTAP), which generates reactive oxygen/nitrogen species, is well tolerated and without adverse effects.