Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia.

Vancomycin-Induced Fever and Neutropenia in an Immunocompetent Patient With Complicated Community-Acquired Pneumonia.

Drug-induced fever can be caused by many medications through several mechanisms. One of the most common mechanisms is an immunologic reaction mediated by drug-induced antibodies. Herein, we report the case of a rare adverse reaction with vancomycin.

Vaginal preparation with different antiseptic solutions before cesarean section for preventing postoperative infections: A systematic review and network meta-analysis.

Aims: We aimed to investigate the effect of various vaginal wash solutions on reducing risks of post-cesarean endometritis, wound infections, fever, and hospital stay duration.

Methods: Scopus, Web of Science, PubMed, and Cochrane Library were searched for randomized clinical trials that compared different vaginal wash solutions to each other or to "no vaginal cleaning"; without restriction on the age of parturients or site where trials were conducted. We analyzed this frequentist network meta-analysis using the netmeta package in R software version 4.

Lemierre Syndrome Complicating Deep Neck Infection and Descending Mediastinitis Secondary to Methicillin resistant Staphylococcus aureus (MRSA) Infection.

Lemierre syndrome (LS) is an oropharyngeal infection, followed by bacteremia, thrombosis of the internal jugular vein and subsequent hematogenic metastasis via septic emboli. We report a case of Lemierre syndrome complicated by descending necrotizing mediastinitis due to a Methicillin-resistant Staphylococcus aureus (MRSA) infection in a 5-month-old Saudi boy.

Kikuchi-Fujimoto Disease: A Rare Benign Cause of Lymphadenopathy That Mimics Malignant Lymphoma.

Kikuchi-Fujimoto disease (KFD), also called histiocytic necrotizing lymphadenitis, is a benign self-limited disease involving lymph node enlargement with unclear causes and high fever. It was first seen in Japan and has wide array of differentials, and thus it can be confused with other causes of lymphadenitis leading to an incorrect treatment. We describe a case of a 34-year-old man with prolonged painless cervical lymphadenopathy and fever, in whom KFD, that is histiocytic necrotizing lymphadenitis, was diagnosed after the gold standard test of lymph node biopsy.

Epidemiology, clinical characteristics and risk factors of COVID-19 among children in Saudi Arabia: a multicenter chart review study.

Background: The Coronavirus Disease 2019 (COVID-19) has affected over 100 million cases worldwide. Children accounted for 1-5% of all cases with less reported symptoms and better prognosis compared to adults. This study aimed to describe the epidemiological characteristics and outcomes of pediatric COVID-19 cases in Saudi Arabia in addition to identifying risk factors associated with disease severity.

COVID-19 in Saudi Patients With Sickle Cell Disease: A Retrospective Multi-Center Study.

Background The prevalence of sickle cell disease (SCD) within Saudi Arabia is relatively high, with an estimated 145/10,000 cases. There is an urgent need for researching many aspects of the Coronavirus disease of 2019 (COVID-19) due to the widespread of the virus among SCD patients in Saudi Arabia. The aim of this study is to determine how COVID-19 affects SCD patients in order to reach the best strategy for their management protocols.

A Novel Variant of Adenosine Deaminase 2 Deficiency Presented With Chronic Thrombocytopenia, Anemia, and Early-Onset Stroke.

Deficiency of adenosine deaminase 2 (DADA2) is a rare recessive disorder caused by the bi-allelic loss-of-function pathogenic variants in the gene (MIM: 607575, also known as , cat eye syndrome chromosome region, candidate 1). Based on the Human Gene Mutation Database (HGMD), 53 different disease-causing variants have been identified in this gene to date. This case report aims to describe a new vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) case caused by a novel pathogenic variant.

Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura.

Multiple autoimmune syndrome (MAS) is a condition characterized by three or more autoimmune disorders in the same individual. The development of MAS involves genetic, immunological, and infectious factors. Here we report a case of a 40-year-old man who presented with four autoimmune diseases, namely autoimmune hypothyroidism, alopecia universalis, celiac disease, and immune thrombocytopenic purpura (ITP), which leads to a diagnosis of MAS.

Vitamin B12 Deficiency Presenting With Microangiopathic Hemolytic Anemia.

Vitamin B12 has essential roles in DNA synthesis, red blood cell development, and neurologic functions. Vitamin B12 deficiency is relatively common, particularly in people aged over 60 years. Among hematological disturbances, microangiopathic hemolytic anemia with thrombocytopenia or so-called pseudo-thrombotic microangiopathy (pseudo-TMA) is a particularly rare but significant clinical complication in patients with vitamin B12 deficiency.

Inherited Platelet Function Disorder From Novel Mutations in RAS Guanyl-Releasing Protein-2 Confirmed by Sanger Sequencing.

Inherited platelet disorders (IPDs) are genetically heterogeneous rare disorders due to quantitative and/or qualitative abnormalities of the platelet. IPDs are often predisposed to significant medical complications. RAS guanyl-releasing protein-2 (RASGRP2) was recently identified as a gene affected in patients with platelet function defects and a bleeding complication.

Extraction and UHPLC-DAD detection of undeclared substances in market-available dietary supplements and slimming products in Eastern region, Saudi Arabia: An application of principal component analysis.

Background: Dietary supplements (DS) containing undeclared substances may pose serious risk to s public health. The consumers of DS should be aware of such products in order to avoid the risk of fatal outcomes.

Aim Of The Study: The study is based on the determination and identification of undeclared substances - theobromine (TB), theophylline (TH), pseudoephedrine (PE), caffeine (C), hydrochlorothiazide (HTZ) and yohimbine (Y) - in market-available DS.

Adult medulloblastoma: a single institution experience.

Unlabelled: Medulloblastoma is an aggressive posterior fossa tumor which is rare in adult. We aim to study the clinical features and outcome of adult medulloblastoma patients, and to identify poor outcome predictors.

Patients And Methods: From January 1995 to December 2006, 35 adult patients (>15 years of age at the time of diagnosis) underwent surgery for medulloblastoma followed by full dose of radiotherapy (54 Gy), with or without systemic chemotherapy.

Anaplastic Thyroid Cancer: a Retrospective analysis of 120 cases.

Introduction: Anaplastic Thyroid Cancer (ATC) is one of the most lethal malignancies with very short survival and extremely poor treatment outcome. ATC accounts for 2-5% of all thyroid cancers worldwide with an annual incidence of about 2 million.

Objective: To review the natural history and treatment outcome of ATC patients treated at King Faisal Specialist Hospital and Research Centre (KFSH and RC) located at Riyadh, Saudi Arabia.

Treatment of aggressive fibromatosis: the experience of a single institution.

Aims: Aggressive fibromatosis is a locally aggressive infiltrative low-grade tumour, although pathologically benign, and it does not metastasise, yet it can cause serious local distressing symptoms by virtue of local destruction and impairment of local function. The aim of this study was to emphasise the role of radiotherapy and adequate surgery in the treatment of fibromatosis in patients presenting with newly diagnosed or recurrent disease and to analyse our treatment results over 15 years for this rare tumour type.

Materials And Methods: Fifty-four patients with confirmed diagnosis of aggressive fibromatosis treated at King Faisal Specialist Hospital between 1990 and 2006 were identified from our local cancer registry.

Comparative study of dosimetry between high-dose-rate and permanent prostate implant brachytherapies in patients with prostate adenocarcinoma.

Purpose: To compare the dose coverage, conformity, and homogeneity between high-dose-rate (HDR) brachytherapy and permanent prostate implant (PPI) in the treatment of prostate adenocarcinoma.

Methods And Materials: From January 2003 to August 2004, 54 patients (108 implants) underwent HDR brachytherapy of prostate cancer with iridium-192 stepping source. Of patients who underwent PPI brachytherapy with iodine-125, 72 patients were randomly selected for the purpose of dosimetric comparison.

Neoadjuvant chemotherapy followed by concurrent chemo-radiation therapy in locally advanced nasopharyngeal carcinoma.

Purpose: To evaluate the efficacy and outcomes of neoadjuvant cisplatinum and epirubicin chemotherapy followed by concurrent cisplatinum chemotherapy with radiotherapy in patients with locally advanced nasopharyngeal carcinoma.

Methods And Materials: One hundred ten patients (80 male, 30 female) with locally advanced nasopharyngeal carcinoma, staged according to the 1997 International Union Against Cancer/American Joint Committee on Cancer classification system as IIB (n = 9), III (n = 20), IVA (n = 32), and IVB (n = 49), World Health Organization types II (n = 25) and III (n = 85), were included in this protocol between January 1998 and July 2000 at King Faisal Specialist Hospital and Research Centre. Patients underwent two cycles of induction chemotherapy with cisplatinum 100 mg/m(2) and epirubicin 70 mg/m(2) on Days 1 and 21, followed by a radical course of radiotherapy (6,600 cGy in 6.

A study comparing different approaches in managing neck nodes in early carcinoma of the tongue.

Objective: To evaluate elective neck treatment in patients with early stage (T1-2 negative neck node [N0]) squamous cell carcinoma of the oral tongue.

Methods: The medical records of all patients with early stage (T1-2 N0) of oral tongue cancer at the King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia, between January 1980 and December 1997, were identified and retrospectively reviewed.

Results: Our cohort consisted of 93 patients: 45 males and 48 females, with a median age of 60 years.