Very-late-onset multiple Acyl-coenzyme a dehydrogenase deficiency with elevated GDF-15 and Aldolase: a case report.

A 72-year-old woman on sertraline and levothyroxine (Levoxyl) presented to clinic with progressive proximal > distal and left > right upper and lower extremity weakness. She had length-dependent paresthesias and sensory deficits. Aldolase was elevated but CK was normal.

National Policies to Limit Nutrients, Ingredients, or Categories of Concern in School Meals: A Global Scoping Review.

The school food environment is a key intervention point for influencing children's and adolescents' diets. As more countries establish school meal programs to provide critical nourishment to students, establishing standards for the foods served can increase the consumption of key nutrients and limit the consumption of foods that do not build health. This global scoping review explores the prevalence and basic characteristics of national policies that regulate food served through school meals across 193 countries, particularly by restricting the provision of categories, nutrients, or ingredients of nutritional concern.

National Policies to Limit Food Marketing and Competitive Food Sales in Schools: A Global Scoping Review.

School food environments contribute to children's nutritional intake and overall health. As such, the World Health Organization and other public health organizations encourage policies that restrict children's access and exposure to foods and beverages that do not build health in and around schools. This global scoping review explores the presence and characteristics of policies that restrict competitive food sales and marketing for unhealthy foods across 193 countries using evidence from policy databases, gray literature, peer-reviewed literature, and primary policy documents.

Swiping right on PrEP: a qualitative study of MSM preferences for PrEP public health messaging on dating apps.

Men who have sex with men (MSM) are disproportionately affected by HIV. Given that over 70% of MSM meet sexual partners via dating apps, such apps may be an effective platform for promoting HIV pre-exposure prophylaxis (PrEP) use. We aimed to describe preferences among MSM for PrEP advertisements displayed on dating apps.

Coexisting Biopsy-Diagnosed Dementia and Glioblastoma.

Both glioblastoma (GBM) and dementia are devastating diseases with limited treatments that are usually not curative. Having clinically diagnosed dementia with an associated biopsy-proven etiology and a coexisting GBM diagnosis is a rare occurrence. The relationship between the development of neurodegenerative dementia and GBM is unclear, as there are conflicting reports in the literature.

Perceptions of Health, Body Size, and Nutritional Risk Factors for Obesity in People with HIV in South Africa.

Metabolic disease is increasing in people with HIV (PWH) in South Africa, but little is known about self-perceptions of body size, health, and nutritional behavior in this population. We performed a cross-sectional analysis of individual-level data from the 2016 South Africa Demographic and Health Survey. This survey measured HIV serostatus and body mass index (BMI).

"That was our afterparty": a qualitative study of mobile, venue-based PrEP for MSM.

Background: HIV preexposure prophylaxis (PrEP) uptake among men who have sex with men (MSM), a group disproportionately impacted by HIV, is not commensurate with need. Settings which reduce or remove barriers to accessing care are promising venues to support PrEP uptake. PrEP provision at mobile clinics represents a novel strategy to increase PrEP access; however, the acceptability and feasibility of this approach have not been well studied.

Tumor sound, auditory cues, and tissue pathology in glioma surgery: a proof-of-concept study.

Objective: Visual, tactile, and auditory cues are used during surgery to differentiate tissue type. Auditory cues in glioma surgery have not been studied previously. The objectives of this study were 1) to evaluate the feasibility of recording sound generated by the suction device during glioma surgery in matched tissue samples, and 2) to characterize the acoustic variation that occurs in different tissue samples.

Characterization of Virologic Rebound Following Nirmatrelvir-Ritonavir Treatment for Coronavirus Disease 2019 (COVID-19).

We enrolled 7 individuals with recurrent symptoms or antigen test conversion following nirmatrelvir-ritonavir treatment. High viral loads (median 6.1 log10 copies/mL) were detected after rebound for a median of 17 days after initial diagnosis.

Duration of viable virus shedding in SARS-CoV-2 omicron variant infection.

Clinical features of SARS-CoV-2 Omicron variant infection, including incubation period and transmission rates, distinguish this variant from preceding variants. However, whether the duration of shedding of viable virus differs between omicron and previous variants is not well understood. To characterize how variant and vaccination status impact shedding of viable virus, we serially sampled symptomatic outpatients newly diagnosed with COVID-19.

Duration of viral shedding and culture positivity with postvaccination SARS-CoV-2 delta variant infections.

Isolation guidelines for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are largely derived from data collected prior to the emergence of the delta variant. We followed a cohort of ambulatory patients with postvaccination breakthrough SARS-CoV-2 infections with longitudinal collection of nasal swabs for SARS-CoV-2 viral load quantification, whole-genome sequencing, and viral culture. All delta variant infections in our cohort were symptomatic, compared with 64% of non-delta variant infections.

Dermatology COVID-19 Registries: Updates and Future Directions.

During the COVID-19 pandemic, rapid, real-world evidence is essential for the development of knowledge and subsequent public health response. In dermatology, provider-facing and patient-facing registries focused on COVID-19 have been important sources of research and new information aimed at guiding optimal patient care. The 7 dermatology registries included in this update now include more than 8000 case reports sourced from physicians and patients from countries all over the world.

Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma.

Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum.

Outcomes following reirradiation of patients with head and neck cancer.

Background: This study reports the outcomes for patients with head and neck cancer who received reirradiation with palliative or curative intent.

Methods: A retrospective review of 41 patients treated with curative (n = 28) or palliative (n = 13) reirradiation was conducted. Survival was calculated from the start of the reirradiation.

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1. Exon 2 of GJB2 was screened for coding sequence allele variants by denaturing high-performance liquid chromatography (DHPLC) complemented by bidirectional sequencing. If two deafness-causing mutations of GJB2 (encoding Connexin 26) were identified, further screening was not performed.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test.

Objective: To assess a possible genotype-phenotype correlation for GJB2.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However, genetic diagnosis is complicated by the fact that 10%-50% of affected subjects with GJB2 mutations carry only one mutant allele. Recently, a deletion truncating the GJB6 gene (encoding connexin-30), near GJB2 on 13q12, was shown to be the accompanying mutation in approximately 50% of these deaf GJB2 heterozygotes in a cohort of Spanish patients, thus becoming second only to 35delG at GJB2 as the most frequent mutation causing prelingual hearing impairment in Spain.

Interdisciplinary didactic instruction at academic health centers in the United States: attitudes and barriers.

Interdisciplinary care is a method of providing patient care through a team approach that incorporates the efforts of various health care providers. Studies show that this approach can improve patient care and decrease overall costs to the healthcare system. Despite the evidence for the benefits of interdisciplinary care, there are no well-defined models for training students during their didactic years to become members of an interdisciplinary team.

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the high frequency of this allelic variant is the result of a founder effect rather than a mutational hot spot in GJB2, which was the prevailing hypothesis.