Systematic review of mortality and survival rates for APDS.

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder that presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes severe, recurrent infections, lymphoproliferation, lymphoma, and other cancers, autoimmunity and enteropathy. Autosomal dominant variants in two independent genes have been demonstrated to cause APDS.

Locally Acquired Melioidosis Linked to Environment - Mississippi, 2020-2023.

Melioidosis, caused by , is a rare but potentially fatal bacterial disease endemic to tropical and subtropical regions worldwide. It is typically acquired through contact with contaminated soil or fresh water. Before this investigation, was not known to have been isolated from the environment in the continental United States.

Perceived Factors That Facilitate or Prevent the Use of Speech-Generating Devices in Bilingual Individuals With Aphasia.

Purpose: The aim of this study was to explore practicing speech-language pathologists' (SLPs') perceptions of factors that could facilitate or prevent the use of speech-generating devices (SGDs) in bilingual individuals with aphasia. Specifically, this exploratory study sought to identify the facilitators and barriers to SGD use in individuals with culturally and linguistically diverse backgrounds.

Method: An online survey was distributed to SLPs through an e-mail listserv and social media of an augmentative and alternative communication company.

Mindfulness Using a Wearable Brain Sensing Device for Health Care Professionals During a Pandemic: A Pilot Program.

Objective: The purpose of this feasibility pilot study was to evaluate safety and adherence of a wearable brain sensing wellness device designed to reduce stress among healthcare professionals (HCP).

Methods: A total of 40 HCP were invited to participate in an open-label pilot study. Participants were asked to use a brain sensing wearable device (MUSE-S™) on a daily basis to reduce their stress, for a total of 90 days.

The Nutritional Adequacy and Diet Quality of Vegetarian Menu Substitutions in Urban Kansas Childcare Centers.

While plant-based eating has become increasingly popular, little is known of how this trend has impacted childcare center meals. The purpose of this study was to measure the nutrient content and diet quality of vegetarian alternative lunches and compare these measures to those of standard childcare lunches and nutrient benchmarks representing one-third of the Dietary Reference Intake for 3-year-olds and 4-5-year-olds. Menu data were obtained from seven urban Kansas childcare centers participating in the Child and Adult Care Food Program and regularly providing a vegetarian alternative lunch.

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur in isolation or with additional clinical features comprising a genetic syndrome. Autosomal dominant variants in TAB2 are recognized by the American Heart Association as causing nonsyndromic CHD, however, emerging data point to additional, extra-cardiac features associated with TAB2 variants. We identified 15 newly reported individuals with pathogenic TAB2 variants and reviewed an additional 24 subjects with TAB2 variants in the literature.

Energy-Adjusted Dietary Intakes Are Associated with Perceived Barriers to Healthy Eating but Not Food Insecurity or Sports Nutrition Knowledge in a Pilot Study of ROTC Cadets.

Military service is inherently demanding and, due to the nature of these demands, the term "tactical athlete" has been coined to capture the physical requirements of the profession. Reserve Officers' Training Corps (ROTC) cadets are a unique subset of the military service community, and the complexity of their training and educational pursuits increases their susceptibility to unhealthy eating patterns. The purpose of this pilot study was to explore the relationship between the perceived barriers to healthy eating, food insecurity, sports nutrition knowledge, and dietary patterns among Army ROTC cadets.

The importance of palpation in the skin cancer screening examination.

With the recent unprecedented shift toward contactless healthcare solutions, providers should recall the value that proper palpation adds to dermatologic practice. We present a case that demonstrates the limitations of touchless care and how proper palpation during skin cancer examinations may impact cosmetic outcomes. Our patient is an 86-year-old male patient with Sezary syndrome and monoclonal B-cell lymphocytosis whose squamous cell carcinoma invasion was missed by visual inspection alone.

What diet should I recommend my patient with Hepatic Encephalopathy?

Purpose Of Review: The burden of malnutrition is high in patients with cirrhosis, especially in those with hepatic encephalopathy (HE). This has a bearing on increased morbidity and mortality. Heightened attention needs to be paid to screen the patients at high nutritional risk both in the outpatient and hospitalized settings.

Viral panniculitis in a patient with disseminated opportunistic Enterovirus infection.

Infection-induced panniculitis has been described in association with a broad range of microorganisms. Among those, viral panniculitis represents a minor category, with only a few anecdotal reports in the literature documenting viral infection in the subcutaneous fat. Herein, we report a woman in her 30s with seropositive rheumatoid arthritis on rituximab and prednisone, who presented with a 6-month history of progressive multisystem manifestations, including unintentional weight loss, fever, fatigue, myopathy, pancreatitis, and sensorineural hearing loss.

Food Trying and Liking Related to Grade Level and Meal Participation.

School-based child nutrition programs provide students with meals and snacks that align with guidelines for a healthy eating pattern. However, participation is not universal, and research on the determinants of food selection is needed to improve school nutrition practices and policies. The purpose of this study was to examine the relationships between grade level (i.

Cognitive disinhibition and infrequent moderate-to-intense physical activity linked with obesity in U.S. soldiers.

Purpose: To explore the relationship between body weight status and neurocognitive functioning in soldiers.

Methods: U.S.

A Model for Improving Diet Quality within Child Nutrition Programs: The U.S. Army's Child and Youth Services Healthy Menu Initiative.

The U.S. Army's Child, Youth, and School Services (CYS), which has the capacity to serve more than 70,000 meals/snacks per day, is a geographically dispersed system with facilities worldwide.

The impact of replacing breakfast grains with meat/meat alternatives: an evaluation of child nutrition policy.

Objective: To evaluate the Child and Adult Care Food Program (CACFP) rule that allows a meat/meat alternative to replace the breakfast grain requirement three times per week.

Design: A 5-week menu including breakfast, lunch and snack was developed with meat/meat alternative replacing the breakfast grain requirement three times per week. Menu nutrients based on the minimum requirements were compared with reference values representing the Acceptable Macronutrient Distribution Range for fat and a range of reference values representing two-thirds the Dietary Reference Intake for 3-year-olds and 4-5-year-olds.

LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity.

LONP1 is an ATP-dependent protease and chaperone that plays multiple vital roles in mitochondria. LONP1 is essential for mitochondrial homeostasis due to its role in maintenance of the mitochondrial genome and its central role in regulating mitochondrial processes such as oxidative phosphorylation, mitophagy, and heme biosynthesis. Bi-allelic LONP1 mutations have been reported to cause a constellation of clinical presentations.

Nutritional Assessment in Inpatients With Cirrhosis Can Be Improved After Training and Is Associated With Lower Readmissions.

Malnutrition is widely prevalent in cirrhosis patients, which can worsen sarcopenia, hepatic encephalopathy (HE), and overall prognosis. We aimed to define the frequency of nutritional assessments of patients with cirrhosis in retrospective and prospective (after educational training) cohorts and to evaluate prospective changes along with their effects on 90-day readmissions. This study was conducted in 2 phases.

Attention-deficit hyperactivity disorder symptomatology, binge eating disorder symptomatology, and body mass index among college students.

To explore the relationship between symptoms of attention-deficit hyperactivity disorder (ADHD), symptoms of binge eating disorder, and body mass index (BMI) among students at a southern university. Two hundred seventy-seven college students. Between January 31, 2013 and March 27, 2013, participants completed the Adult ADHD Self-Report Scale (ASRS) Screener and the Binge Eating Scale (BES) in addition to permitting researchers to measure their height and weight.

Pediatric Acute Promyelocytic Leukemia Presenting to the Emergency Department as Refusal to Ambulate.

A previously healthy 10-year-old girl presented to the emergency department (ED) with a headache and vomiting which resolved with oral NSAIDs. The patient returned two days later unable to ambulate with mental slowing and lower extremity bruising. Labs demonstrated marked leukocytosis, severe anemia and thrombocytopenia, and disseminated intravascular coagulation (DIC).

Induction of senescence in primary glioblastoma cells by serum and TGFβ.

Glioblastoma is the most common type of adult brain tumour and has a median survival after diagnosis of a little more than a year. Glioblastomas have a high frequency of mutations in the TERT promoter and CDKN2A locus that are expected to render them resistant to both replicative and oncogene-induced senescence. However, exposure of PriGO8A primary glioblastoma cells to media with 10% serum induced a senescence-like phenotype characterized by increased senescence-associated β galactosidase activity, PML bodies and p21 and morphological changes typical of senescence.

Assessment of Circulating LncRNAs Under Physiologic and Pathologic Conditions in Humans Reveals Potential Limitations as Biomarkers.

Long non-coding RNAs (lncRNA) are a new class of regulatory molecules with diverse cellular functions. Recent reports have suggested that extracellular lncRNAs are detectable in human plasma and may serve as biomarkers. Here, we sought to investigate circulating lncRNAs as potential biomarkers for pulmonary arterial hypertension (PAH).

Use of Health Belief Model Variables To Examine Self-Reported Food Handling Behaviors in a Sample of U.S. Adults Attending a Tailgate Event.

Unsafe food handling behaviors are common among consumers, and, given the venue, individuals attending a tailgating event may be at risk for foodborne illness. The objective of this study was to measure the association between Health Belief Model variables and self-reported usual food handling behaviors in a convenience sample of men and women at a tailgate event. Participants (n = 128) completed validated subscales for self-reported food handling behaviors (i.