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PURPOSE: For children with neurodevelopmental disabilities (CWNDs), early diagnosis that leads to early intervention with regular targeted therapies is critical. In Qatar, private therapy centres that address this demand often have highly exclusive prices restricting families from availing them. This paper examines the challenges faced by families with CWNDs, as well as various financial and systemic obstacles, from the vantage point of these centres, all of which culminate in an extraordinarily high disability price tag for disability families in Qatar...

BACKGROUND: Black adults who smoke and have HIV experience immense stressors (eg, racial discrimination and HIV stigma) that impede smoking cessation success and perpetuate smoking-related health disparities. These stressors also place Black adults who smoke and have HIV at an increased risk of elevated interoceptive stress (eg, anxiety and uncomfortable bodily sensations) and smoking to manage symptoms. In turn, this population is more likely to smoke to manage interoceptive stress, which contributes to worse HIV-related outcomes in this group...

Thrombotic microangiopathy (TMA) is characterized by immunothrombosis and life-threatening organ failure, but the precise underlying mechanism driving its pathogenesis remains elusive. In this study, we hypothesized that gasdermin D (GSDMD), a pore-forming protein serving as the final downstream effector of pyroptosis/interleukin (IL)-1pathway, contributes to TMA and its consequences by amplifying neutrophil maturation and subsequent necrosis. Using a murine model of focal crystalline TMA, we found that Gsdmd-deficiency ameliorated immunothrombosis, acute tissue injury and failure...

PURPOSE: Use of artificial intelligence (AI) in cancer care is increasing. What remains unclear is how best to design patient-facing systems that communicate AI output. With oncologist input, we designed an interface that presents patient-specific, machine learning-based 6-month survival prognosis information designed to aid oncology providers in preparing for and discussing prognosis with patients with advanced solid tumors and their caregivers. The primary purpose of this study was to assess patient and caregiver perceptions and identify enhancements of the interface for communicating 6-month survival and other prognosis information when making treatment decisions concerning anticancer and supportive therapy...

Introduction/Aims: This national survey builds on previous qualitative research examining potential palliative care needs among people living with ALS (pALS) by quantifying and investigating relationships among pALS' stage of illness progression; physical, emotional, social, spiritual, and intimacy-related concerns; advance care planning behaviors; perceptions of feeling heard and understood by healthcare providers; and overall quality of life. Methods: Researchers partnered with national organizations to recruit pALS to participate in a one-time survey comprising items from validated instruments (eg, the ALS Specific Quality of Life Instrument-Revised) and researcher-generated measures...

Introduction: Approximately 80% of primary hyperoxaluria cases are caused by primary hyperoxaluria type 1 (PH1, OMIM# 259900), which is characterized by pathogenic variants in the AGXT gene, resulting in deficiency of the liver-specific enzyme alanine-glyoxylate aminotransferase (AGT). This leads to increased production of oxalate, which cannot be effectively eliminated from the body, resulting in its accumulation primarily in the kidneys and other organs. Subjects and Methods: This study included 17 PH1 Egyptian patients from 12 unrelated families, recruited from the Inherited Kidney Disease Outpatient Clinic and the Dialysis Units, Cairo University Hospitals, during the period from January 2018 to December 2019, aiming to identify the pathogenic variants in the AGXT gene...

Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with limited therapeutic options. Interleukin-1 receptor type 2 (IL1R2) promotes breast tumor-initiating cell (BTIC) self-renewal and tumor growth in TNBC, indicating that targeting it could improve patient treatment. Here, we observed that IL1R2 blockade strongly attenuated macrophage recruitment and the polarization of tumor-associated macrophages (TAMs) to inhibit BTIC self-renewal and CD8+ T cell exhaustion, which resulted in reduced tumor burden and prolonged survival in TNBC mouse models...

Valproate is the most effective treatment for idiopathic generalised epilepsy. Current guidance precludes its use in women of childbearing potential, unless other treatments are ineffective or not tolerated, because of high teratogenicity. This risk was recently extended to men. New guidance will limit use both in men and women aged <55 years, resulting in withdrawal of valproate from men already taking it, as occurs for women. Whether there are risks of personal harm (including injury or death) associated with valproate withdrawal has not yet been quantified for men or women on valproate, meaning clinicians cannot reliably counsel either sex when discussing valproate withdrawal with them, despite that this concern may be at the forefront of patients' and clinicians' minds...

The accurate segregation of homologous chromosomes during the Meiosis I reductional division in most sexually reproducing eukaryotes requires crossing over between homologs. In baker's yeast approximately 80 percent of meiotic crossovers result from Mlh1-Mlh3 and Exo1 acting to resolve double-Holliday junction (dHJ) intermediates in a biased manner. Little is known about how Mlh1-Mlh3 is recruited to recombination intermediates to perform its role in crossover resolution. We performed a gene dosage screen in baker's yeast to identify novel genetic interactors with Mlh1-Mlh3...

Polycomb group (PcG) proteins mediate epigenetic silencing of important developmental genes by modifying histones and compacting chromatin through two major protein complexes, PRC1 and PRC2. These complexes are recruited to DNA by CpG islands (CGIs) in mammals and Polycomb response elements (PREs) in Drosophila . When PcG target genes are turned OFF, PcG proteins bind to PREs or CGIs, and PREs serve as anchors that loop together and stabilize gene silencing. Here, we address which PcG proteins bind to PREs and whether PREs mediate looping when their targets are in the ON transcriptional state...

Human Papillomavirus (HPV) self-sampling has been implemented successfully as an alternative to traditional forms of cervical cancer screening in low-resource settings. Through Bangladesh's current national cervical cancer screening program, only about 10% of the at-risk population is reached. Thus, Bangladesh is an ideal setting to consider HPV self-sampling to improve cervical cancer prevention efforts. However, the feasibility and acceptability of HPV self-sampling has not been evaluated in Bangladesh. We aimed to understand levels of HPV and cervical cancer knowledge and to evaluate the feasibility and acceptability of HPV self-sampling for cervical cancer screening in a semi-urban Bangladeshi community...

BACKGROUND: Worksite-based health programs have shown positive impacts on employee health and have led to significant improvements in cardiovascular risk factor profiles. We aimed to determine the effect of cafeteria intervention on cardio-metabolic risk factors diet in a worksite setting (Dhulikhel Hospital) in Nepal. METHODS: In this one-arm pre-post intervention study, we recruited 277 non-pregnant hospital employees aged 18-60 with prediabetes or pre-hypertension...

PURPOSE: This study evaluated the experiences and needs of lesbian, gay, bisexual, transgender, queer, and other sexual and gender minorities (LGBTQ+) attending medical schools in Thailand. METHOD: Medical students from 4 medical schools in Thailand were recruited in 2022. LGBTQ+ participants were selected via purposive sampling and invited for semistructured interviews. Verbatim transcripts were analyzed using reflexive thematic analysis. RESULTS: Interviews were conducted with 39 students identifying as lesbian, gay, bisexual, transgender, queer, questioning, nonbinary, asexual, or androgynous, with a mean age of 21...

People with opioid use disorder (OUD) are a vulnerable population who face unique risks of harm when participating in research. Despite a long-standing dialogue, written research codes of ethics, and institutional review board oversight for the conduct of ethical research in vulnerable populations, protections for study populations with OUD is rarely mentioned. Nurse practitioners who conduct research using participants with OUD, especially when recruiting their own patients (i.e., dual role), must be aware of the unique ethical considerations necessary to protect their patients and participants from increased risks...

BACKGROUND: Metabolic-associated fatty liver disease and liver fibrosis are intimately linked to insulin resistance, type 2 diabetes, obesity, and metabolic syndrome. Transient elastography (TE) and point shear wave elastography (pSWE) were used to measure liver stiffness in patients who met the ultrasound criteria for steatotic liver diseases (SLD). This study compared two methods for estimating liver stiffness in patients with SLD, which in turn correlated with liver fibrosis. METHOD: Ultrasound B-mode imaging was used to identify SLD...

BACKGROUND AND OBJECTIVES: Due to increasing skin cancer incidence, Germany implemented a statutory nationwide routine skin cancer screening (rSCS) in 2008. The present study aims (1) to analyze which patient factors are associated with the participation in rSCS in Germany and (2) to investigate reasons for nonparticipation. PATIENTS AND METHODS: Participants and nonparticipants of rSCS (≥ 35 years) were recruited in routine care in nine dermatological outpatient clinics...

The KMN (Knl1/Mis12/Ndc80) network at the kinetochore, primarily known for its role in chromosome segregation, has been shown to be repurposed during neurodevelopment. Here, we investigate the underlying neuronal mechanism and show that the KMN network promotes the proper axonal organization within the C. elegans head nervous system. Post-mitotic degradation of KNL-1, which acts as a scaffold for signaling and has microtubule-binding activities at the kinetochore, led to disorganized ganglia and aberrant placement and organization of axons in the nerve ring - an interconnected axonal network...

BACKGROUND: Research has shown that heterosexual African American male individuals aged 18-24 years have a higher prevalence of sexually transmitted infections (STIs) and are more likely to engage in risky sexual behavior. There is a critical need to promote sexual reproductive health (SRH) services among this population, especially in urban settings. Young African American male individuals use social media platforms to access health information, showcasing the potential of social media and web-based links as tools to leverage electronic engagement with this population to promote SRH care...

BACKGROUND: Sexual health influencers (SHIs) are individuals actively sharing sexual health information with their peers, and they play an important role in promoting HIV care services, including the secondary distribution of HIV self-testing (SD-HIVST). Previous studies used a 6-item empirical leadership scale to identify SHIs. However, this approach may be biased as it does not consider individuals' social networks. OBJECTIVE: This study used a quasi-experimental study design to evaluate how well a newly developed machine learning (ML) model identifies SHIs in promoting SD-HIVST compared to SHIs identified by a scale whose validity had been tested before...

PURPOSE: The aim of this study is to prospectively evaluate whether individual and group Therapeutic Patient Education (TPE) can reduce the need to intensify treatment of diabetes and hypertension in newly diagnosed type 2 diabetic patients. METHODS: A total of 937 patients were recruited and followed-up for 42.7 ± 21.5 months. TPE was a structured comprehensive education delivered by trained nurses: 322 patients received individual TPE (ITPE), 291 underwent group TPE (GTPE), and 324 were in Usual Care (UC)...