Int J Environ Res Public Health
November 2024
Developmental coordination disorder (DCD) is a lifelong neurological disorder impairing the coordination and planning of motor and sensory tasks. Its functional manifestation includes difficulties in various aspects of daily living, making early diagnosis and management essential. This cross-sectional, questionnaire-based study targeted healthcare providers in Saudi Arabia's Eastern Province who work with children under the age of 18.
View Article and Find Full Text PDFBackground: Primary acquired nasolacrimal duct obstruction (PANDO) is a condition in which tear ducts are blocked, leading to epiphora and dacryocystitis. This systematic review and meta-analysis aimed to measure the ability of transcanalicular dacryocystorhinostomy (TC-DCR) as an alternative approach to PANDO compared to traditional external dacryocystorhinostomy (EX-DCR).
Methods: Our search included Embase, Medline, and the Cochrane Central Register of Controlled Trials (CENTRAL).
Pseudohypoaldosteronism type 1 (PHA1) is a rare, heterogeneous group of disorders characterized by resistance to aldosterone action. We report the case of a 17-day-old Saudi female infant who presented on the third day of life with persistent hyperkalemia, hyponatremia, and metabolic acidosis. Initial evaluation for congenital adrenal hyperplasia was unremarkable.
View Article and Find Full Text PDFBackground Bronchopulmonary dysplasia (BPD) is a significant complication in extremely preterm infants. Therefore, early diagnosis of BPD is important for planning treatment strategies. In this study, we aimed to assess the predictive efficacy of the Respiratory Severity Score (RSS) in determining severe BPD or death outcomes in very preterm infants.
View Article and Find Full Text PDFPurpose: Fosfomycin has been used more frequently in managing uncomplicated urinary tract infections (UTIs) due to decreased compliance and increased multidrug-resistant bacteria. The aim of this network meta-analysis was to assess the efficacy of Fosfomycin compared to Nitrofurantoin, Trimethoprim-Sulfamethoxazole (TMP-SMX), and Ciprofloxacin in terms of clinical and microbiological cure alongside with other measurements.
Materials And Methods: We searched MEDLINE, Embase, and Cochrane Central Register of Controlled Trials (CENTRAL).
BACKGROUND Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS). This report presents a case of familial HSH associated with the novel homozygous TRPM6 gene variant c.
View Article and Find Full Text PDFLeukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion.
View Article and Find Full Text PDFBackground: Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Deficiency of the mitochondrial succinyl-CoA ligase/synthetase enzyme secondary to pathogenic variations in the and genes is a subtype of MDDS that presents with neurological manifestations and a specific biochemical profile.
Methods: This cross-sectional series describes five patients with MDDS secondary to pathogenic variations in the and genes from two tertiary care centers in Canada and India.
Post-coronavirus disease 2019 (COVID-19) vaccination encephalitis is rarely reported particularly in the pediatric population. Herein, we report the first case of postvaccination anti-N-methyl-d-aspartate (NMDA) encephalitis in close temporal association with receiving COVID-19 vaccine in a pediatric patient. The patient is a 13-year-old female who received the first dose of the Pfizer-BioNTech COVID-19 vaccine and presented with subacute neurological and psychiatric symptoms and eventually confirmed the diagnosis of anti-NMDA autoimmune encephalitis.
View Article and Find Full Text PDFFactor X (FX) deficiency is an extremely rare autosomal recessive inherited coagulation defect. We report a case of congenital Factor X-Riyadh deficiency discovered during a routine workup before a dental procedure. During routine work-up for dental surgery, prothrombin time (PT) and the international normalized ratio (INR) were prolonged.
View Article and Find Full Text PDFAim: This exploratory study examines the association of the duration of electroencephalography (EEG) recordings to diagnostic yield in children undergoing evaluation for seizures.
Method: Clinical and EEG data on three hundred and ten patients (167 males and 143 females) were reviewed retrospectively. 134 (43.
Purpose: Raising public knowledge and perception would have a discernible impact on providing optimal care and reducing the burden of arthritis in the community. This systematic review aimed to identify the public knowledge about the common arthritic conditions in Saudi Arabia.
Methods: We searched MEDLINE, Embase, and CENTRAL for relevant literature.
Progressive familial intrahepatic cholestasis (PFIC) describes a heterogeneous group of autosomal-recessive childhood liver disorders in which cholestasis of hepatocellular origin frequently manifests during infancy or the first year of life and progresses to liver failure. We report a case of a five-year-old boy with homozygous pathogenic variant c.2906G>A in the ATP binding cassette subfamily B member 4 ( gene presented with hepatosplenomegaly and cytopenia without a history of jaundice or itching; he had a history of Epstein-Barr virus infection and family history of liver disease.
View Article and Find Full Text PDFIntroduction: The widespread occurrence of drug-resistant bacteria has increased interest in alternatives to antibiotics for combatting bacterial infections, among which bacteriophages play an important role. The ability of phage proteins to induce an anti-phage immune response can significantly limit the effectiveness of treatment, which was the basis for the study described in this article. The aim of the study was to assess the effects of bacteriophages on the induction of an anti-phage humoral response in calves.
View Article and Find Full Text PDFThe current study investigates different methods to minimize the drag coefficient (C) without ignoring the safety factor related to the stability of a vehicle, i.e., the lift coefficient (C).
View Article and Find Full Text PDFCurrently used stratification models in myeloma precursor disease as well as staging systems and response criteria in myeloma have limitations including failure to identify functionally high-risk myeloma patients. B-cell maturation antigen, a transmembrane glycoprotein required for long-lived plasma cells, is specific and expressed by myeloma cells. When it sheds from the surface of myeloma cells it can be measured in the blood as serum (sBCMA) and correlated with clinical outcomes in myeloma precursor disease as well as in active myeloma.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD) involves cilia impairment, with resultant symptoms of repeated respiratory infections, sinusitis, and infertility. We report a seven-year-old boy of Arab ethnicity, with consanguineous parents, who was identified to have situs inversus totalis in neonatal life. There was a significant family history of ciliopathy as situs inversus totalis, infertility, and recurrent respiratory infections were noted in his two paternal uncles.
View Article and Find Full Text PDFBackground: Trigeminal neuralgia is characterized by pain at the distribution of one or more of the trigeminal nerve branches and is usually treated with anti-epileptic medication. When first line treatment fails, patients receive other treatment modalities including radiofrequency thermoablation (RFT) of the Gasserian ganglion and peripheral branches of the trigeminal nerve. The aim of this study is to compare RFT of the Gasserian ganglion and peripheral branches of trigeminal nerve in terms of efficacy and rate of complications.
View Article and Find Full Text PDFBackground: Organophosphate (OP) poisoning is one of the most common etiologies of poisoning in the pediatric age group.
Objective: This study aimed to evaluate the demographic characteristics, clinical features, clinical course, and outcomes of children with toxicity from organophosphates admitted to the pediatric intensive care unit.
Methods: A retrospective review of hospital medical records of all children aged 14 years and younger who were admitted to the PICU with a provisional diagnosis of organophosphate poisoning at King Fahad Hospital of the University (KFHU), Alkhobar, Saudi Arabia, between January 1, 2008, and December 31, 2018, was conducted.
Background: Botulinum toxin type A (BTX-A) is the most popular therapeutic agent for muscle relaxation and pain control. Lately, BTX-A injection received great interest as a part of multimodal pain management for lower limb lengthening and deformity correction. This systematic review aimed to determine the role of BTX-A injection in pain management for during lower limb lengthening and/or deformity correction.
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