264 results match your criteria: "King Abdullah specialized Children's Hospital[Affiliation]"

Introduction: Pyeloplasty is the definitive management of ureteropelvic junction obstruction (UPJO). One of the challenging questions is when to perform pyeloplasty. We studied if improvement post-pyeloplasty in the first 3 months of life could show greater improvement in hydronephrosis than surgery at an older age.

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Background: Developmental dysplasia of the hip (DDH) leads to pain, joint instability, and early degenerative joint disease. Incidence, prevalence, and management strategies of DDH have been well-documented in several countries, but not in Saudi Arabia.

Objective: We synthesized the current evidence regarding incidence, prevalence, risk factors, and clinical treatment for children with DDH in Saudi Arabia.

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Durability of COVID-19 humoral immunity post infection and different SARS-COV-2 vaccines.

J Infect Public Health

April 2024

College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Kingdom of Saudi Arabia; King Abdullah International Medical Research Centre (KAIMRC), Ministry of National Guard Health Affairs (MNGHA), Riyadh, Kingdom of Saudi Arabia. Electronic address:

Background: The global challenge posed by Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) has been a major concern for the healthcare sector in recent years. Healthcare workers have a relatively high risk of encountering COVID-19 patients, making protective immunity against SARS-CoV-2 is a priority for them. This study aims to evaluate the longitudinal measurement of SARS-CoV-2 IgG spike protein antibodies in healthcare workers (HCWs) after COVID-19 infection and after receiving the first and second doses of SARS-CoV-2 vaccines, including Pfizer-BioNTech (BNT162b2) and Oxford-AstraZeneca (AZD1222).

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Background Novel digital methods of simulation are gaining popularity in nursing education in light of the limited access to clinical placement and expensive high-fidelity simulation technologies. Aim The aim of this study is to explore the lived experiences of Saudi nursing students in digital clinical experiences (DCEs). Methods A qualitative phenomenological research design, grounded in Husserlian phenomenology, was employed.

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Purpose: Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by defects in the MHC class II regulatory genes leading to abnormal T cells development and function. Therefore, patients mainly present with increased susceptibility to infections, diarrhea, and failure to thrive. In this report, we present one MHC class II deficient patient with a novel presentation with Hemophagocytic Lymphohistiocytosis (HLH).

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Introduction: The objectives of this study were to determine the prevalence of unplanned readmissions in the pediatric population within 30 days of discharge, identify the possible reasons behind them, and develop a predictive model for unplanned admissions.

Methods: A retrospective chart review study of 25,211 patients was conducted to identify the prevalence of readmissions occurring within 30 days of discharge from the King Abdullah Specialized Children's Hospital (KASCH) in Riyadh, Saudi Arabia, between Jan 1, 2019, and Dec 31, 2021. The data were collected using the BestCare electronic health records system and analyzed using Jamovi statistical software version 1.

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Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Clin Genet

June 2024

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings.

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Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Mol Genet Genomic Med

March 2024

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

Article Synopsis
  • - Wiedemann-Rautenstrauch Syndrome (WRS) is a rare genetic disorder with symptoms like growth retardation, short stature, and mental impairment, typically caused by mutations in the POLR3A gene inherited in a recessive manner.
  • - This study presents new cases of WRS in three families from Oman and Saudi Arabia, discovering novel biallelic variants in the POLR3A gene that are linked to the syndrome.
  • - Advanced techniques like whole-exome sequencing and protein modeling were used to analyze the impact of these genetic changes, aiming to enhance the understanding of the disease's underlying genetic mechanisms and clinical features.
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Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.

Front Genet

January 2024

Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.

Congenital disorders of glycosylation (CDG) are a group of more than 100 rare genetic disorders characterized by impaired glycosylation of proteins and lipids. The clinical presentation of CDG varies tremendously, from single-organ to multi-organ involvement and from prenatal death to a normal adult phenotype. In this case study, we report a large consanguineous family with multiple children suffering from cerebral palsy, seizure, developmental and epileptic encephalopathy, and global developmental delay.

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Acute toxic methemoglobinemia is a rare and fatal condition with increased levels of oxidized hemoglobin. The clinical presentation of methemoglobinemia varies primarily based on total methemoglobin levels in the blood. Patients sometimes have significant cardiopulmonary compromise, but the majority are asymptomatic, with only cyanosis as the most prevalent sign.

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Scimitar syndrome is a rare congenital cardiopulmonary anomaly; it is also called venolobar syndrome, hypogenic lung syndrome, and Halasz syndrome. The syndrome is characterized by cardiac dextroposition, right lung and pulmonary artery hypoplasia as well as complete or partial anomalous pulmonary venous drainage of the right lung. We report a case of a 22-month-old full-term male child with a severe form of scimitar syndrome diagnosed at birth.

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Nephrotic syndrome (NS)-epidermolysis bullosa (EB) sensorineural deafness syndrome is an autosomal recessive rare genetic disease caused by a gene homozygous mutation on chromosome 11p15.5. In this report, we discuss a rare case related to a Saudi patient with genetic syndrome who presented with NS and EB.

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The appendix is a small, finger-sized tubular pouch that extends from your large intestine. Regardless, the physiology of the appendix is still unclear. There are several factors that cause appendicitis, such as infection, underlying tumor, constipation, and trauma.

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A Rare Case of Non-Neurological Ptosis.

Cureus

November 2023

Department of Paediatrics, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, SAU.

Ptosis in pediatrics is commonly attributed to neurological causes. Rarely, chronic inflammation of the upper eyelid and the formation of giant papillary conjunctivitis due to vernal keratoconjunctivitis (VKC) may lead to ptosis. In this case report, we present an eight-year-old girl with conjunctivitis who was referred to a pediatric neurology service for evaluation of ptosis.

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Retrospective Cross-Sectional Study Reviewing the Effectiveness of Mycophenolate Mofetil on Saudi Children With Nephrotic Syndrome.

Cureus

November 2023

Division of Nephrology, Department of Paediatrics, Ministry of National Guard - Health Affairs, King Abdulaziz Medical City, Riyadh, SAU.

Background Idiopathic nephrotic syndrome (INS) is the most common form of nephrotic syndrome (NS) in children. It is often associated with minimal change disease (MCD). Corticosteroid therapy is the initial treatment, but many patients experience relapses, leading to steroid-dependent nephrotic syndrome (SDNS) or frequently relapsing steroid-sensitive nephrotic syndrome (FR-SSNS).

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Clinical Characteristics of Rhinosinusitis in Children in a Tertiary Care Center.

Cureus

December 2023

Division of Otolaryngology - Head & Neck Surgery, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, SAU.

Background: Rhinosinusitis (RS) is a term used in clinical practice to describe inflammation of the paranasal and nasal sinuses. This condition can be categorized based on the duration of symptoms into acute, subacute, and chronic RS. It is important to note that RS presents differently in pediatric patients compared to adults.

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Dysfunctional RNA processing caused by genetic defects in RNA processing enzymes has a profound impact on the nervous system, resulting in neurodevelopmental conditions. We characterized a recessive neurological disorder in 18 children and young adults from 10 independent families typified by intellectual disability, motor developmental delay and gait disturbance. In some patients peripheral neuropathy, corpus callosum abnormalities and progressive basal ganglia deposits were present.

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Background Palliative care is defined as a comprehensive care approach that improves the quality of life of patients and their families facing the problems associated with life-threatening illnesses by alleviating the pain by different means. The death of children receiving palliative care is mainly due to congenital anomalies (26% of infants) and cancer (17% of children). This study aims to identify the demographic data, clinical characteristics, and outcomes of patients who received specialized pediatric palliative care (PPC) services in a tertiary care center in Saudi Arabia.

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variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.

bioRxiv

December 2023

Department of Pathology & Laboratory Medicine, Miller School of Medicine, and Sylvester Comprehensive Cancer Center, University of Miami, Miami FL 33136.

Article Synopsis
  • SIRT5 is a deacylase involved in removing negatively-charged lysine modifications, mostly active in the mitochondrial matrix.
  • Two specific variants in SIRT5 (P114T and L128V) found in human patients with severe mitochondrial disease lead to decreased protein stability and activity, but do not show signs of dominant negative effects.
  • A mouse model created to mimic the P114T variant shows reduced SIRT5 levels and activity without significant health issues, suggesting the variants might not be the main cause of the patients' neurological symptoms.
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Background Because of university closures due to COVID-19 confinement, video-based simulation, a training technique based on high-fidelity simulations, was introduced in reaction to the need to adapt high-fidelity clinical simulation experiences to digital platforms. Purpose This study aims to evaluate the perceptions of nursing students in Saudi Arabia regarding the shift from face-to-face simulation experiences to video-based simulation during the COVID-19 pandemic. Methods This study employed a phenomenological exploratory qualitative research design among 32 nursing students from various academic levels.

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Objective: This study aims to explore a new parameter, the calyceal-to-parenchymal ratio (CPR) of postnatal renal ultrasonography (RUS) as a predictor of surgery in newborns with possible ureteropelvic junction obstruction (UPJO). Although UPJO remains the main surgical category of antenatally detected hydronephrosis, there is a lack of a gold-standard test that predicts the need for pyeloplasty.

Subjects And Methods: We retrospectively reviewed infants with a positive antenatal history of hydronephrosis who were confirmed to have grade 3 or 4 hydronephrosis on postnatal RUS between 2010 and 2020.

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Objectives The aim of this study was to describe the clinical, serological, and histopathological features of patients with dermatitis herpetiformis (DH) in Saudi Arabia. Methods We retrospectively reviewed the medical charts of all patients diagnosed with DH in the dermatology departments of National Guard Health Affairs (NGHA) hospitals in five different cities, from 2016 to 2022. We included patients who had been diagnosed by a dermatologist and had a combination of typical DH skin lesions, positive immunoglobulin A (IgA) on direct immunofluorescence (DIF), and/or positive tissue transglutaminase (tTG) IgA.

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Article Synopsis
  • COVID-19 originated in Wuhan, China, in December 2019, leading to a global health crisis as it quickly infected over 344 million people and resulted in nearly 5.6 million deaths worldwide.
  • The virus, part of the Coronaviridae family, has mutated significantly, with the Omicron variant (B.1.1.529) becoming a notable variant of concern due to its high transmissibility and alterations in the spike protein where antibodies attach.
  • The study investigates potential treatments for the Omicron variant using virtual screening and molecular analysis, identifying Pinoresinol as a promising candidate due to its strong binding affinity to the spike protein, which may help inhibit the virus's functionality.
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Fibromatosis colli is an infrequent and self-limiting disorder in newborns with an unknown etiology. It usually presents with an abnormal head position or cervical swelling. The clinical diagnosis of fibromatosis colli is important to avoid unnecessary invasive interventions.

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