Longitudinal cytokine profile in severe COVID-19 and multisystem inflammatory syndrome in children: A single centre study from Egypt.

Aim: The severity of COVID-19 is influenced by uncontrolled hyper-inflammatory response with excessive release of many cytokines and chemokines. The understanding of the temporal change in the cytokine levels that underlies the diverse clinical presentations of COVID-19 can help in the prediction of the disease outcome and in the design of proper treatment strategies.

Method: Data were collected from children (<18 years old) hospitalised with severe COVID-19 or severe MIS-C who were compared to a group of healthy control children.

Does Good Nebulization Therapy in the Emergency Room Reduce the Need for Hospitalization in Asthmatic Children?

Introduction: Asthma is a chronic inflammatory disorder characterized by obstruction, hyperresponsiveness, and inflammatory changes in the airways. The overall prevalence of asthma in Saudi Arabian children ranges from 8% to 25%. Studies have shown that children who did not respond adequately to treatment in the emergency room (ER) were admitted to hospital for additional treatment which increased the cost and risk of hospital-acquired infections.

Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.

Background: Occipital encephaloceles is a rare congenital defect in which meninges and the brain protrude out as a sac-like structure through opening in the skull. The condition can result in neurologic complications as well as structural abnormalities of the skull. To the best of our knowledge, no genetic variant has been identified as an underlying cause of non-syndromic occipital encephaloceles.

The Impact of Gene Variants on Acute-Phase Reactants in Children with Rheumatic Heart Disease.

Rheumatic heart disease (RHD) is the most important sequela of upper respiratory group A (GAS) infection. The role of the common angiotensin-converting enzyme () insertion/deletion (I/D) variant in the disease and its subtypes remains uncertain. The acute-phase reactants (APRs) C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) form part of the Jones criteria for diagnosing RHD, and genetic factors are known to influence baseline CRP and ESR levels.

Impact of the Accreditation Program of the Saudi Central Board for Accreditation of Healthcare Institutions on the Safety Dimension of the Institute of Medicine Quality.

Background: Although hospital accreditation is recognized as a tool for improving healthcare, there are inconsistent results regarding its impact on healthcare quality. In Saudi Arabia, it is mandatory for all Ministry of Health (MOH) hospitals to be accredited by the Central Board for Accreditation of Healthcare Institutions (CBAHI).

Purpose: This study measured the impact of the CBAHI accreditation program on the Institute of Medicine's (IOM) safety dimension in Madinah.

Identification and Analysis of a Homozygous Nonsense Variant in Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan.

The Polymorphism at the microRNA-155 Binding Site in the AGTR1 Gene is not Significantly Associated with Rheumatic Heart Disease in Saudi Arabia Population.

Background: Rheumatic Heart Disease (RHD) remains a major cause of cardiovascular diseases and the most devastating effects are shown on children and young adults. RHD is caused due to the interaction between microbial, environmental, immunologic, and genetic factors. The Renin- Angiotensin Aldosterone System (RAAS) has been strongly implicated as the susceptibility pathway in the pathogenesis of the cardiovascular disease.

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy.

: Dilated cardiomyopathy (DCM) is a rare cardiac disease characterised by left ventricular enlargement, reduced left ventricular contractility, and impaired systolic function. Childhood DCM is clinically and genetically heterogenous and associated with mutations in over 100 genes. The aim of this study was to identify novel variations associated with infantile DCM.

Impact of MIF Gene Promoter Variations on Risk of Rheumatic Heart Disease and Its Age of Onset in Saudi Arabian Patients.

Although macrophage migration inhibitory factor (MIF) has consistently been shown to be an important immune modulator, data on the association between MIF promoter variations and the risk of developing rheumatic heart disease (RHD) remain inconclusive. RHD is an important complication of streptococcal infections in the Middle East, not least in Saudi Arabia, and identifying risk markers is an important priority. Therefore, we investigated the association between two functional MIF promoter variations and RHD susceptibility and severity in Saudi patients: the MIF-173G > C substitution (rs755622) and the MIF-794 CATT5-8 tetranucleotide repeat (rs5844572).

IL10 Promoter Polymorphisms are Associated with Rheumatic Heart Disease in Saudi Arabian Patients.

Rheumatic heart disease (RHD) is an inflammatory disease that develops following streptococcal infections. IL10 helps to balance immune responses to pathogens. IL10 polymorphisms have been associated with RHD, although results remain inconclusive.