The feasibility of emergency department observation units in the management of mild to moderate hyponatremia.

Objective: To describe the feasibility of managing hyponatremia patients under outpatient observation status in an academic medical center, and compare outcomes based on the use of an emergency department observation unit (EDOU).

Methods: This is a retrospective cohort study of emergency department hyponatremic patients managed in four hospitals within a large urban academic medical center over 27 months. All patients had an admit-to-observation order, ICD-10 codes for hyponatremia, and mild (130-135 mmol/L) to moderate (121-129 mmol/L) hyponatremia.

Evaluation of Clinical Preventive Management Provided by Primary Healthcare Physicians Against Brucellosis in Saudi Arabia.

Background:  Brucellosis is among the most common zoonotic bacterial infections, leading to major public health consequences in endemic areas such as Saudi Arabia. Primary healthcare is crucial in controlling brucellosis, as it serves as the frontline for disease prevention, early detection, and appropriate management. However, enhancing the contribution of primary healthcare to the entire brucellosis notification process is necessary to minimize the underreporting and inadequate data collection, which hinders the implementation of effective control measures.

Proteomic and Transcriptomic Landscapes of Alström and Bardet-Biedl Syndromes.

Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and retinal degeneration. ALMS and BBS belong to the ciliopathies, which are known to have the expression products of genes, encoding them as cilia-localized proteins in multiple target organs. The aim of this study was to perform transcriptomic and proteomic analysis on cellular models of ALMS and BBS syndromes to identify common and distinct pathological mechanisms present in both syndromes.

Identifying the risk of dyslexia in bilingual children: The potential of language-dependent and language-independent tasks.

This study investigates the linguistic processing and non-linguistic cognitive abilities of monolingual and bilingual children with and without reading difficulties and examines the relationship between these skills and reading. There were 72 Italian-speaking children: 18 monolingual good readers (MONO-GR, M = 10;4), 19 monolingual poor readers (MONO-PR, M = 10;3), 21 bilingual good readers (BI-GR, M = 10;6), and 16 bilingual poor readers (BI-PR, M = 10;6). All bilingual children spoke Italian as their L2.

The kinetics of blast clearance are associated with copy number alterations in childhood B-cell acute lymphoblastic leukemia.

We analyzed the pattern of whole-genome copy number alterations (CNAs) and their association with the kinetics of blast clearance during the induction treatment among 195 pediatric patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) who displayed intermediate or high levels of minimal residual disease (MRD). Using unsupervised hierarchical clustering of CNAs > 5 Mbp, we dissected three clusters of leukemic samples with distinct kinetics of blast clearance [A - early slow responders (n=105), B - patients with persistent leukemia (n=24), C - fast responders with the low but detectable disease at the end of induction (n=66)] that corresponded with the patients' clinical features, the microdeletion profile,the presence of gene fusions and patients survival. Low incidence of large CNAs and chromosomal numerical aberrations occurred in cluster A which included ALL samples showing recurrent microdeletions within the genes encoding transcription factors (i.

Prognostic significance of IKZF1 deletions and IKZF1 profile in children with B-cell precursor acute lymphoblastic leukemia treated according to the ALL-IC BFM 2009 protocol.

The strongest predictors of outcome in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) are minimal residual disease (MRD) and specific molecular abnormalities. One unfavorable prognostic factor is the presence of IKZF1 gene aberrations, particularly when co-occurring with high MRD level at the end of induction treatment. The present study determines the predictive value of a recently-defined IKZF1-plus (IKZF1 ) microdeletion profile in 373 children with BCP-ALL treated according to the ALL-intercontinental Berlin-Frankfurt-Munster protocol 2009 protocol.

SARS-CoV-2 genomes from Saudi Arabia implicate nucleocapsid mutations in host response and increased viral load.

Monitoring SARS-CoV-2 spread and evolution through genome sequencing is essential in handling the COVID-19 pandemic. Here, we sequenced 892 SARS-CoV-2 genomes collected from patients in Saudi Arabia from March to August 2020. We show that two consecutive mutations (R203K/G204R) in the nucleocapsid (N) protein are associated with higher viral loads in COVID-19 patients.

Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function.

Background: Wolfram syndrome (WFS) is a rare autosomal recessive syndrome in which diabetes mellitus and neurodegenerative disorders occur as a result of Wolframin deficiency and increased ER stress. In addition, WFS1 deficiency leads to calcium homeostasis disturbances and can change mitochondrial dynamics. The aim of this study was to evaluate protein levels and changes in gene transcription on human WFS cell model under experimental ER stress.

Sentence Repetition as a Clinical Marker of Developmental Language Disorder: Evidence From Arabic.

Purpose: Research on the typical and impaired grammatical acquisition of Arabic is limited. This study systematically examined the morphosyntactic abilities of Arabic-speaking children with and without developmental language disorder (DLD) using a novel sentence repetition task. The usefulness of the task as an indicator of DLD in Arabic was determined.

Nonword Repetition Performance of Arabic-Speaking Children With and Without Developmental Language Disorder: A Study on Diagnostic Accuracy.

Purpose This study evaluates the effectiveness of a nonword repetition (NWR) task in discriminating between Palestinian Arabic-speaking children with developmental language disorder (DLD) and age-matched typically developing (TD) children. Method Participants were 30 children with DLD aged between 4;0 and 6;10 (years;months) and 60 TD children aged between 4;0 and 6;8 matched on chronological age. The Arabic version of a Quasi-Universal NWR task was administered.

Diagnosis of iron deficiency in hemodialysis patients: Usefulness of measuring reticulocyte hemoglobin equivalent.

The evaluation of iron status in dialysis patients provides information essential to the planning of adequate recombinant human erythropoietin treatment. To diagnose iron deficiency in patients undergoing hemodialysis (HD), reticulocyte hemoglobin content and percentage of hypochromic red cells are incorporated into the European best practice guidelines on anemia management in chronic kidney disease (CKD), the mean reticulocyte hemoglobin content (Ret-HE) was proposed as alternatives to standard biochemical tests. Reticulocyte hemoglobin content and percentage of hypochromic red cells are incorporated into the European best practice guidelines on anemia management in CKD.

Expressive Verb Morphology Deficits in Arabic-Speaking Children With Developmental Language Disorder.

Purpose This study investigated the production of tense and subject-verb agreement in Palestinian Arabic-speaking children with developmental language disorder (DLD) in comparison to their typically developing (TD) peers in terms of (a) performance accuracy and (b) error patterns. Method Participants were 14 children with DLD aged 4;0-7;10 and 32 TD children aged 3;0-8;0 matched on nonverbal abilities. Children were asked to complete a picture-based verb elicitation task.

Advantages and Limitations of SNP Array in the Molecular Characterization of Pediatric T-Cell Acute Lymphoblastic Leukemia.

T-cell acute lymphoblastic leukemia (T-ALL) is a highly heterogeneous disease, and numerous genetic aberrations in the leukemic genome are responsible for the biological and clinical differences among particular ALL subtypes. However, there is limited knowledge regarding the association of whole-genome copy number abnormalities (CNAs) in childhood T-ALL with the course of leukemia and its outcome. The aim of this study was to identify the pattern of whole-genome CNAs in 86 newly diagnosed childhood T-ALL cases using a high-density single-nucleotide polymorphism array.

Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland.

Introduction: Female hemophilia is an intriguing rare disorder and few larger reports on its genetic etiology are available. While historically the diagnosis was satisfactorily reached by factor VIII activity assays, the clinical and potentially therapeutic heterogeneity of female hemophilia calls for comprehensive molecular diagnosis in each case. Currently, the genetic investigations are not a part of routine, state-funded, diagnostics in Poland, and thus molecular epidemiological data are missing.

MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL.

Chromosome 21 abnormalities are the most frequent genetic findings in childhood B cell precursor acute lymphoblastic leukemia (BCP-ALL) cases. Majority of patients are effectively diagnosed with fluorescence in situ hybridization (FISH) and karyotyping; however, some cases may require additional tools to be used. Bone marrow samples of 373 childhood BCP-ALL patients were tested for chromosome 21 copy number variations (CNVs) with Multiplex Ligation-dependent Probe Amplification (MLPA) P327 array.

Microarray testing as an efficient tool to redefine hyperdiploid paediatric B-cell precursor acute lymphoblastic leukaemia patients.

The aim of our study was to characterize genetic alterations in a cohort of paediatric patients with B-cell progenitors (BCP-ALL) and a hyperdiploid karyotype. In our study, we analysed 55 childhood hyperdiploid BCP-ALL patients using single nucleotide polymorphism (SNP) microarray testing. The group consisted mostly of patients with the modal number of chromosomes between 54 and 58 (34 cases).

Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder, with only about 100 cases reported worldwide. It is characterized by congenital lesions of the eye, skin, and central nervous system. Only recently, potential causative FGFR1 point mutations have been identified in brain tumors and cultured skin biopsies from patients with this condition.

GATA3 germline variant is associated with CRLF2 expression and predicts outcome in pediatric B-cell precursor acute lymphoblastic leukemia.

The germline variant at rs3824662 in GATA3 is a risk locus for Philadelphia-like acute lymphoblastic leukemia (Ph-like ALL), the biological subtype of B-cell precursor (BCP)-ALL defined by a distinct gene expression profile and the presence of specific somatic aberrations including rearrangements of CRLF2. In this study, we investigated whether rs3824662 in GATA3 associates with CRLF2 expression in leukemic cells and predicts prognosis in pediatric BCP-ALL patients treated according to the ALL Intercontinental Berlin-Frankfurt-Münster (IC BFM) 2009 (n = 645) and the ALL IC BFM 2002 (n = 216) protocols. High expression of CRLF2 was observed at both protein and mRNA levels (fourfold higher in AA than in CA + CC) among GATA3 AA variant carriers, independent of the presence of P2RY8-CRLF2 fusion.

Surface expression of Cytokine Receptor-Like Factor 2 increases risk of relapse in pediatric acute lymphoblastic leukemia patients harboring deletions.

We prospectively examined whether surface expression of Cytokine Receptor-Like Factor 2 (CRLF2) on leukemic blasts is associated with survival and induction treatment response in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients. Flow cytometric analysis of bone marrow-derived leukemia cells revealed that 7.51% (29/286) of 386 pediatric BCP-ALL patients were CRLF2-positive (CRLF2pos) at diagnosis.

Gastroprotective and antioxidant effects of fluvoxamine on stress-induced peptic ulcer in rats.

Objectives: Stress-induced peptic ulcer disease (SPUD) refers to erosions in the mucosa of the upper gastrointestinal tract that are caused by stress. Some antidepressants are reported to have antioxidant and antiulcer effects. However, histopathological and biochemical evaluation of the anti-ulcer activity of a comparable antidepressant, fluvoxamine, has not been adequately investigated.

A study of VHI scores and acoustic features in street vendors as occupational voice users.

Purpose: to investigate acoustic features of phonation and perception of voice handicap in street vendors.

Methods: Eighty-eight participants (44 street vendors, 44 controls) were recruited. The mean age of the group was 38.

Prevalence of Metabolically Healthy Obesity (MHO) and its relation with incidence of metabolic syndrome, hypertension and type 2 Diabetes amongst individuals aged over 20 years in Ahvaz: A 5 Year cohort Study (2009-2014).

Background: Today, obesity epidemic is one of the major health problems of the present century. One of the phenotypes of obesity is metabolically healthy obesity. It seems that these obese individuals suffer less from cardiovascular disease and metabolically unhealthy obesity.

Biallelic loss of CDKN2A is associated with poor response to treatment in pediatric acute lymphoblastic leukemia.

The inactivation of tumor suppressor genes located within 9p21 locus (CDKN2A, CDKN2B) occurs in up to 30% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), but its independent prognostic significance remains controversial. In order to investigate the prognostic impact of deletions and promoter methylation within 9p21, 641 children with newly diagnosed BCP-ALL using methylation specific multiplex ligation-dependent probe amplification (MS-MLPA) were investigated. A total of 169 (26.

Online Information Search Performance and Search Strategies in a Health Problem-Solving Scenario.

Although access to Internet health information can be beneficial, solving complex health-related problems online is challenging for many individuals. In this study, we investigated the performance of a sample of 60 adults ages 18 to 85 years in using the Internet to resolve a relatively complex health information problem. The impact of age, Internet experience, and cognitive abilities on measures of search time, amount of search, and search accuracy was examined, and a model of Internet information seeking was developed to guide the characterization of participants' search strategies.