Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.

Ionotropic glutamate receptors (iGluRs), specifically α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs), play a crucial role in orchestrating excitatory neurotransmission in the brain. AMPARs are intricate assemblies of subunits encoded by four paralogous genes: GRIA1-4. Functional studies have established that rare GRIA variants can alter AMPAR currents leading to a loss- or gain-of-function.

Effectiveness and safety of modified fully oral 9-month treatment regimens for rifampicin-resistant tuberculosis: a prospective cohort study.

Background: In 2020, WHO guidelines prioritised the use of a standard fully oral short treatment regimen (STR) consisting of bedaquiline, levofloxacin or moxifloxacin, ethionamide, ethambutol, high-dose isoniazid, pyrazinamide, and clofazimine for the management of rifampicin-resistant tuberculosis. A high prevalence of resistance to constituent drugs precluded its widespread use by countries in the WHO European region. We evaluated three 9-month fully oral modified STRs (mSTRs) in which ethionamide, ethambutol, isoniazid, and pyrazinamide were replaced by linezolid, cycloserine, or delamanid (or a combination).

Impact of subjective sleep quality on objective measures of neurocognitive dysfunction in patients with major depressive disorder.

Background: Sleep disturbances are prevalent in major depressive disorder (MDD). MDD and sleep disturbances are both linked to cognitive impairments. Studies exploring the mechanisms and impact of sleep disturbances on neurocognitive functioning in depressed patients are lacking and proper assessment and therapeutic interventions for sleep disturbances are not part of clinical management of MDD.

Anthracycline-induced hypertension in pediatric cancer survivors: unveiling the long-term cardiovascular risks.

Background: Long-term cardiovascular complications are common among pediatric cancer survivors, and anthracycline-induced hypertension has become an essential reason for concern. Compared to non-cancer controls, survivors have a higher prevalence of hypertension, and as they age, their incidence rises, offering significant dangers to cardiovascular health.

Main Body: Research demonstrates that exposure to anthracyclines is a major factor in the development of hypertension in children who have survived cancer.

Clinical characteristics of women with HIV in the RESPOND cohort: A descriptive analysis and comparison to men.

Background: Women with HIV are globally underrepresented in clinical research. Existing studies often focus on reproductive outcomes, seldom focus on older women, and are often underpowered to assess sex/gender differences. We describe CD4, HIV viral load (VL), clinical characteristics, comorbidity burden, and use of antiretroviral therapy (ART) among women with HIV in the RESPOND study and compare them with those of the men in RESPOND.

The inclusion of e-cigarettes and heated tobacco products in smoke-free home and car rules: A cross-sectional survey of adults in Armenia and Georgia.

Introduction: Understanding who includes e-cigarettes and heated tobacco products (HTPs) in smoke-free home or car rules could inform public health interventions, particularly in countries with high smoking prevalence and recently implemented national smoke-free laws, like Armenia and Georgia.

Methods: In 2022, we conducted a cross-sectional survey among 1468 adults in 28 Armenian and Georgian communities (mean age=42.92 years; 51.

Cemiplimab plus chemotherapy versus chemotherapy alone in non-small cell lung cancer with PD-L1 ≥ 1 %: A subgroup analysis from the EMPOWER-Lung 3 part 2 trial.

Objectives: EMPOWER-Lung 3 part 2 (NCT03409614), a double-blind, placebo-controlled phase 3 study, assessed cemiplimab (anti-programmed cell death protein 1) plus chemotherapy versus chemotherapy alone in patients with advanced non-small cell lung cancer (NSCLC) without EGFR, ALK, or ROS1 aberrations, regardless of histology or PD-L1 expression levels. We report results from subgroup analysis of patients with PD-L1 expression ≥ 1 %.

Materials And Methods: Patients were randomized to receive cemiplimab 350 mg or placebo with chemotherapy every 3 weeks for up to 108 weeks.

SEROTONIN AND AMYOTROPHIC LATERAL SCLEROSIS.

Selective degeneration of motoneurons is the pathological hallmark of amyotrophic lateral sclerosis (ALS). Does serotonin (5-HT) play a role in progression or development of disease is under the research. The topic of the present paper is pressing as there is no data available regarding the spread of amyotrophic lateral sclerosis.

FEASIBILITY AND EFFECTIVENESS OF GENERAL ANESTHESIA WITH OPIOIDS VERSUS OPIOID-FREE ANESTHESIA PLUS TRANSVERSUS ABDOMINIS PLANE BLOCK ON POSTOPERATIVE OUTCOMES AFTER MINI GASTRIC BYPASS SURGERY.

Opioid-free anesthesia (OFA) is increasingly used at present in surgical practice by many hospitals as a new and very promising anesthesiologic regimen. This study aimed to compare the efficacy of standard general anesthesia with opioids with so-called opioid-free anesthesia on postoperative outcomes of patients who underwent gastric bypass surgery. This randomized, single-blind clinical study enrolled 103 patients scheduled for elective gastric bypass surgery.

Reimagining Colorectal Cancer Screening: Innovations and Challenges with Dr. Aasma Shaukat.

Colorectal cancer (CRC) currently ranks as the third most common cancer and the second leading cause of cancer-related deaths worldwide, posing a significant global health burden to the population. Recent studies have reported the emergence of a new clinical picture of the disease, with a notable increase in CRC rates in younger populations of <50 years of age. The American Cancer Society (ACS) now recommends CRC screening starting at age 45 for average-risk individuals.

lncRNA Biomarkers of Glioblastoma Multiforme.

Long noncoding RNAs (lncRNAs) are RNA molecules of 200 nucleotides or more in length that are not translated into proteins. Their expression is tissue-specific, with the vast majority involved in the regulation of cellular processes and functions. Many human diseases, including cancer, have been shown to be associated with deregulated lncRNAs, rendering them potential therapeutic targets and biomarkers for differential diagnosis.

Meeting statement: Call to action for step-change in health behaviours.

Background: Enabling, supporting and promoting positive health-related behaviours is critical in addressing the major public health challenges of our time, and the multifaceted nature of behaviours requires an evidence-based approach. This statement seeks to suggest how a much-needed enhanced use of behavioural and cultural science and insights for health could be advanced.

Study Design And Methods: and methods: Public health authorities of Europe and Central Asia and international partner organizations in September 2023 met in Copenhagen, Denmark, to discuss the way forward.

Left ventricular systolic function assessed by standard and advanced echocardiographic techniques in patients with systemic lupus erythematosus: A systemic review and meta-analysis.

Objectives: Aim of the study was to perform a systemic review and meta-analysis of the current case-control studies based on the assessment of the left ventricular (LV) systolic function with standard and advanced echocardiographic methods.

Materials And Methods: Objectives of the study, methods of statisticalanalysis, literature search strategy, inclusion andexclusion criteria, and outcome measurementswere defined according to Cochrane Collaborationsteps, 13 including recommendations for metaanalysisof observational studies in epidemiology (MOOSE).

Results: A total of 850 papers were collected.

Bedaquiline-pretomanid-moxifloxacin-pyrazinamide for drug-sensitive and drug-resistant pulmonary tuberculosis treatment: a phase 2c, open-label, multicentre, partially randomised controlled trial.

Background: The current tuberculosis (TB) drug development pipeline is being re-populated with candidates, including nitroimidazoles such as pretomanid, that exhibit a potential to shorten TB therapy by exerting a bactericidal effect on non-replicating bacilli. Based on results from preclinical and early clinical studies, a four-drug combination of bedaquiline, pretomanid, moxifloxacin, and pyrazinamide (BPaMZ) regimen was identified with treatment-shortening potential for both drug-susceptible (DS) and drug-resistant (DR) TB. This trial aimed to determine the safety and efficacy of BPaMZ.

Globally, songs and instrumental melodies are slower and higher and use more stable pitches than speech: A Registered Report.

Both music and language are found in all known human societies, yet no studies have compared similarities and differences between song, speech, and instrumental music on a global scale. In this Registered Report, we analyzed two global datasets: (i) 300 annotated audio recordings representing matched sets of traditional songs, recited lyrics, conversational speech, and instrumental melodies from our 75 coauthors speaking 55 languages; and (ii) 418 previously published adult-directed song and speech recordings from 209 individuals speaking 16 languages. Of our six preregistered predictions, five were strongly supported: Relative to speech, songs use (i) higher pitch, (ii) slower temporal rate, and (iii) more stable pitches, while both songs and speech used similar (iv) pitch interval size and (v) timbral brightness.

Physical performance strongly predicts all-cause mortality risk in a real-world population of older diabetic patients: machine learning approach for mortality risk stratification.

Background: Prognostic risk stratification in older adults with type 2 diabetes (T2D) is important for guiding decisions concerning advance care planning.

Materials And Methods: A retrospective longitudinal study was conducted in a real-world sample of older diabetic patients afferent to the outpatient facilities of the Diabetology Unit of the IRCCS INRCA Hospital of Ancona (Italy). A total of 1,001 T2D patients aged more than 70 years were consecutively evaluated by a multidimensional geriatric assessment, including physical performance evaluated using the Short Physical Performance Battery (SPPB).

Migraine or any headaches and white matter hyperintensities and their progression in women and men.

Background: Cross-sectional and longitudinal studies have been conducted to investigate the association between migraine and any headache and white matter hyperintensities (WMH). However, studies are inconsistent regarding the strength of the association and its clinical significance. The aim of our study was to investigate the association between headache and its subtypes (migraine with aura (MigA+), migraine without aura (MigA-), non-migraine headache (nonMigHA)) and WMH and its course in the population-based 1000BRAINS study using state-of-the-art imaging techniques and migraine classification according to modified international classification of headache disorders.