Sleep Quality Among Patients and Healthcare Providers in the Primary Healthcare Setting.

As adults spend about 30% of each day asleep, having a sleep disorder can negatively affect their functioning. The study objective was to determine the factors that influence sleep quality among patients and healthcare providers in the primary healthcare setting. This study included respondents of both sexes aged 18-90 years, comprising outpatients and the healthcare providers working in the General Medicine Service at the "Liman" Department of the "Novi Sad" Health Center in Novi Sad, Republic of Serbia.

Transdiagnostic Predictors of Health-Related Quality of Life in Children with Autism and Epilepsy: A Cross-Sectional Study.

: Our understanding of the transdiagnostic factors that influence health-related quality of life (HRQOL) in individuals with neurodivergent conditions is very sparse and highly siloed by diagnosis labels. Research on transdiagnostic predictors of HRQOL across neurodevelopmental conditions is needed to enable care models that address shared needs of neurodivergent individuals beyond diagnostic boundaries. Our objective was to identify transdiagnostic factors associated with HRQOL in children with autism, epilepsy, or comorbid autism/epilepsy.

Epidemiological Characteristics of Hospitalized Burn Patients-A 10-Year Retrospective Study in a Major Burn Center in Serbia.

Background: Many European countries' epidemiological data on burns were analyzed. This research aimed to analyze the key epidemiological characteristics of hospitalized burn patients in Serbia's major burn unit over 10 years, as well as to create the very first national epidemiological dataset with the basic requirements for future epidemiological studies.

Methods: A retrospective cross-sectional study was conducted, and demographic, clinical, and burn characteristics, as well as predictors of mortality, were analyzed.

Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of , , and in Long-Lasting Olfactory Dysfunction.

COVID-19-related persistent olfactory dysfunction (OD) presents remarkable interindividual differences, and little is known about the host genetic factors that are involved in its etiopathogenesis. The goal of this study was to explore the genetic factors underpinning COVID-19-related OD through the analysis of Whole Genome Sequencing data of 153 affected subjects, focusing on genes involved in antiviral response regulation. An innovative approach was developed, namely the assessment of the association between a "gene score", defined as the ratio of the number of homozygous alternative variants within the gene to its length, and participants' olfactory function.

De Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.

The Role of microRNA-22 in Metabolism.

microRNA-22 (miR-22) plays a pivotal role in the regulation of metabolic processes and has emerged as a therapeutic target in metabolic disorders, including obesity, type 2 diabetes, and metabolic-associated liver diseases. While miR-22 exhibits context-dependent effects, promoting or inhibiting metabolic pathways depending on tissue and condition, current research highlights its therapeutic potential, particularly through inhibition strategies using chemically modified antisense oligonucleotides. This review examines the dual regulatory functions of miR-22 across key metabolic pathways, offering perspectives on its integration into next-generation diagnostic and therapeutic approaches while acknowledging the complexities of its roles in metabolic homeostasis.

Genetic and Immunological Insights into Tick-Bite Hypersensitivity and Alpha-Gal Syndrome: A Case Study Approach.

Tick-bite hypersensitivity encompasses a range of clinical manifestations, from localized allergic reactions to systemic conditions like alpha-gal syndrome (AGS), an IgE-mediated allergy to galactose-α-1,3-galactose (α-Gal). This study investigated the clinical, molecular, immunological, and genetic features of two hypersensitivity cases. Two cases were analyzed: a 30-year-old woman with fixed drug reaction (FDR)-like hypersensitivity and a 10-year-old girl with AGS exhibiting borderline α-Gal-specific IgE.

Sonic Hedgehog Determines Early Retinal Development and Adjusts Eyeball Architecture.

The eye primordium of vertebrates initially forms exactly at the side of the head. Later, the eyeball architecture is tuned to see ahead with better visual acuity, but its molecular basis is unknown. The position of both eyes in the face alters in patients with holoprosencephaly due to () mutations that disturb the development of the ventral midline of the neural tube.

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.

Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.

Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.

Prevalence of Dental Fear and Its Association with Oral Health Status Among School Children in Bosnia and Herzegovina: A Cross-Sectional Study.

: This study aimed to examine the prevalence of dental fear among schoolchildren in Bosnia and Herzegovina, analyze the distribution of dental anxiety by gender, age, and place of residence in relation to perceived sources of fear, and evaluate its association with oral health status. : The sample included 355 schoolchildren between the ages of 12 and 15. Data were gathered using a self-assessment questionnaire, a brief clinical oral examination, and the Children's Fear Survey Schedule-Dental Subscale (CFSS-DS).

The Potential of SHAP and Machine Learning for Personalized Explanations of Influencing Factors in Myopic Treatment for Children.

The rising prevalence of myopia is a significant global health concern. Atropine eye drops are commonly used to slow myopia progression in children, but their long-term use raises concern about intraocular pressure (IOP). This study uses SHapley Additive exPlanations (SHAP) to improve the interpretability of machine learning (ML) model predicting end IOP, offering clinicians explainable insights for personalized patient management.

Control of BKPyV-DNAemia by a Tailored Viro-Immunologic Approach Does Not Lead to BKPyV-Nephropathy Progression and Development of Donor-Specific Antibodies in Pediatric Kidney Transplantation.

Polyomavirus BK (BKPyV)-associated nephropathy (BKPyV-nephropathy) remains a significant cause of premature kidney allograft failure. In the absence of effective antiviral treatments, current therapeutic approaches rely on immunosuppression (IS) reduction, possibly at the risk of inducing alloimmunity. Therefore, we sought to explore the long-term effects of a tailored viro-immunologic surveillance and treatment program for BKPyV on the development of alloimmunity and kidney graft outcome.

Expanding the Molecular Spectrum of Missense Variants: Clinical Insights and Literature Review.

Background/objectives: The failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy". biallelic variants have recently been associated with heterotaxy syndrome and congenital heart defects (CHD). However, the genotype-phenotype correlations and the underlying pathogenic mechanisms remain poorly understood.

Sickle Cell Disease in the Islands of Zanzibar: Patients' Characteristics, Management, and Clinical Outcomes.

Background: This study aimed to describe Sickle Cell Disease (SCD) phenotypes, sociodemographic characteristics, healthcare, and clinical outcomes of patients with SCD attending Mnazi Mmoja Hospital (MMH) in Zanzibar.

Methods: Individuals who visited MMH between September 2021 and December 2022 and were known or suspected to have SCD were enrolled in the clinic. Sociodemographic characteristics and clinical features were documented, and laboratory tests were performed.

Expanding the Mutation Spectrum for Inherited Retinal Diseases.

Background/objectives: Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders characterized by degeneration of the retina, leading to visual impairment and blindness. IRDs are heterogeneous, sharing common clinical features that can be difficult to diagnose without knowing the genetic basis of the disease. To improve diagnostic accuracy and advance understanding of disease mechanisms, genetic testing was performed for 103 unrelated patients with an IRD at a single clinical site between 30 August 2022 and 5 February 2024.

Pharmacokinetic Analysis of an Isoniazid Suspension Among Spanish Children Under 6 Years of Age.

: Isoniazid (INH) remains a first-line drug for the treatment of tuberculosis (TB) in young children. In 2010, the WHO recommended an increase in the daily dose of INH up to 10 (7-15) mg/kg. Currently, there are no INH suspensions available in Europe.

Evaluating Offspring After Pregnancy-Associated Cancer: A Systematic Review of Neonatal Outcomes.

Pregnancy-associated cancer (PAC) presents significant challenges for maternal and neonatal health, and yet its impact on neonatal outcomes remains poorly understood. This systematic review aims to evaluate the neonatal risks associated with PAC. A systematic search of PubMed, Embase, Scopus, and other databases was conducted up to 1 November 2024, identifying observational studies and randomized controlled trials assessing neonatal outcomes in pregnancies affected by PAC.

The Rare Entity of Basaloid Thymic Carcinoma: A Multicentric Retrospective Analysis from the Italian Collaborative Group for ThYmic MalignanciEs (TYME).

Background: thymic basaloid carcinoma (BTC) is an extremely rare tumor, and very little data are available on BTC's biology, clinical behavior, drug sensitivity, and patient outcomes.

Methods: We performed a retrospective observational study on patients diagnosed with BTC in 11 referral centers of TYME. All BTC diagnoses were reviewed by the referring pathologist.

Management of Patients with Vulvar Cancers: A Systematic Comparison of International Guidelines (NCCN-ASCO-ESGO-BGCS-IGCS-FIGO-French Guidelines-RCOG).

Background: Vulvar carcinoma is an uncommon gynecological tumor primarily affecting older women. Its treatment significantly impacts the quality of life and, not least, aesthetics because of the mutilating surgery it requires.

Objectives: The management requires a multidisciplinary team of specialists who know how to care for the patient in her entirety, not neglecting psychological aspects and reconstructive surgery.

A Survey of Parents' Perspective of Receiving a Developmental Diagnosis for Their Child.

Receiving a diagnosis, such as cerebral palsy (CP), can have lasting impacts on caregivers and families. Previous literature has described that caregivers wish to receive a diagnosis together, without delay, in a private, direct, honest, and sympathetic way. This study aimed to understand the experience of caregivers of children with cerebral palsy (CP) or similar conditions when receiving a diagnosis for their child.

Unpacking the Mood States of Children and Youth in Saskatchewan, Canada, in the Context of the COVID-19 Pandemic: Insights from the "See Us, Hear Us 2.0" Study.

Background/objectives: The COVID-19 pandemic created a growing need for insights into the mental health of children and youth and their use of coping mechanisms during this period. We assessed mood symptoms and related factors among children and youth in Saskatchewan. We examined if coping abilities mediated the relationship between risk factors and mood states.

Mapping the Gaps: A Scoping Review of Virtual Care Solutions for Caregivers of Children with Chronic Illnesses.

: Caregivers of children with chronic illnesses, including chronic pain, experience high levels of distress, which impacts their own mental and physical health as well as child outcomes. Virtual care solutions offer opportunities to provide accessible support, yet most overlook caregivers' needs. We conducted a scoping review to create an interactive Evidence and Gap Map (EGM) of virtual care solutions across a stepped care continuum (i.

Relations Between Parental Emotion Talk and Preschoolers' Emotion Expressions in Low-Income Chinese American and Mexican American Families.

: Preschool children learn to express emotions in accordance with sociocultural norms. Parental emotion talk (ET) has been theorized to shape these processes. Limited research has examined preschoolers' observed emotion expressions and emotion-related behaviors in culturally diverse samples.