Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene.

Limb-girdle muscular dystrophy was first introduced in the 1950s as a distinct family of unusual genetic diseases. The prevalence of the disease is about 4-7/1000, with a spectrum of onset at different ages. LGMD has a cluster of symptoms varying in severity and presentation in patients.

Rare association of Tolosa-Hunt Syndrome with Sjogren's Syndrome: case report and review of immunological links across autoimmune disorders".

Background: Tolosa-Hunt Syndrome (THS) is a rare inflammatory condition characterized by painful ophthalmoplegia, often associated with granulomatous inflammation in the cavernous sinus. While typically idiopathic, THS can sometimes be linked to underlying autoimmune diseases. This report presents the first documented case of THS as the initial manifestation of Sjögren's Syndrome (SS).

Assessing Emergency Medicine, Family Medicine, and ICU Doctors' Knowledge, Confidence, and Attitude in Managing In-Flight Medical Emergencies in the Kingdom of Saudi Arabia Hospitals: A Cross-Sectional Study.

Background: In-flight medical emergencies (IFMEs) present unique challenges for healthcare professionals, requiring a specific set of knowledge and skills that are not typically covered in standard medical training. This study aims to assess the knowledge, practices, and confidence levels of healthcare professionals in managing IFMEs, as well as their understanding of aviation physiology.

Methodology: A cross-sectional study was conducted among 5,000 healthcare professionals from various specialties and regions.

Prophylactic vs therapeutic blood transfusions impact on pregnant sickle cell patients.

Objective: To observe the fetomaternal outcome of therapeutic versus prophylactic blood transfusions in patients with sickle cell disease (SCD) during pregnancy.

Method: This single-center retrospective observational study was conducted on consecutive pregnant women with SCD between January 2018 and December 2020. All the pregnant women with SCD were included in this study.

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant.

Key Clinical Message: Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring.

Abstract: Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disorder that impairs molybdenum-dependent enzymes, resulting in conspicuous elevated urine sulfite levels and lowered serum uric acid levels.

Assessment of the Level of Knowledge and Awareness of the Risk of Chronic Use of Steroids in Causing Cataracts Among the General Population in the Western Region of the Kingdom of Saudi Arabia (KSA): A Cross-Sectional Study.

Background/aim: Cataracts consequence blindness to burden and impose health and economic burdens on communities. Steroid-induced cataracts have scarcely been highlighted in previous literature, creating a demand for reinvestigating this issue among the general population of western Saudi Arabia.

Methods: A cross-sectional study was conducted in 2022 using an online survey distributed among the target participants via social media platforms.

Recurrent Stroke as a First Presentation in Behçet Disease: A Case Report.

Behçet disease (BD) is a multisystemic relapsing autoimmune vascular disorder. It is clinically characterized by recurrent oral ulcers, genital ulcers, eye, and skin manifestations. Development of neurological symptoms in BD cases is rare and occurs several years after the initial diagnosis.

Public Use of Complementary Medicine for Children in Saudi Arabia: A Questionnaire-Based Cross-Sectional Study.

Background And Objectives: The use of complementary and alternative medicine (CAM) is growing among adults and children. Extensive data is available regarding the pattern and frequency of CAM used in adults in Saudi Arabia, but limited data is available for children. This study aims to examine the level of knowledge, attitude, and practice about the use of CAM in the pediatric population in Saudi Arabia.

Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the gene.

Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O-acyltransferase () gene mutations and is inherited as an autosomal recessive trait. The disorder is characterized by skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory distress.

Invasive Community-Acquired Methicillin-Resistant Staphylococcus aureus (MRSA) Infection in Children: A Report of Five Cases and Literature Review.

developed resistance against most antibiotics; the most known resistant form is methicillin-resistant (MRSA), which can be acquired either from healthcare facilities or the community. The prevalence of hospital-acquired MRSA is higher than community-acquired MRSA (CA-MRSA). CA-MRSA has become an emerging infection and has been increasingly reported recently.

Diagnostic Challenges and Radiological Spectrum of Tumefactive Multiple Sclerosis: A Case Report Study.

Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS). It has many types, which include tumefactive multiple sclerosis (TMS), one of the most uncommon types. We present the case of a 36-year-old woman who presented with right-sided numbness of the body.

Management of Patients With Legg-Calvé-Perthes Disease at a Single Center in Jeddah, Saudi Arabia.

Background: Legg-Calvé-Perthes disease (LCPD) is an idiopathic pediatric hip disorder associated with avascular necrosis of the femoral head. Although there is no standardized and optimal treatment protocol for patients with LCPD, there are three primary treatment strategies: symptomatic treatment, nonsurgical containment using orthotic devices, and surgical containment.

Objective: This study aimed to describe the demographic characteristics, management and outcome of pediatric patients with LCPD at our center between 2005 and 2015.

A Pediatric Case of Basidiobolomycosis Presenting With an Abdominal Mass.

Basidiobolomycosis is a rare fungal infection caused by The condition has been reported in children and adults presenting with abdominal pain, weight loss, abdominal distension, vomiting, diarrhea, fever, and an abdominal mass. We report a case of a previously healthy 2.5 years old male who presented to the ER complaining of abdominal pain and distension for two weeks together with significant weight loss.

A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long-term sequelae.

Neutrophilic dermatoses in a seronegative rheumatoid arthritis patient: A case report.

Rheumatoid arthritis (RA) is a chronic inflammatory disease, characterized by symmetric and destructive polyarthritis with a broad-spectrum clinical manifestation of various organs. RND is an unusual distinctive manifestation of RA and typically develops in severe RA. This report aims to present an unusual and a rare neutrophilic skin condition, in a seronegative RA Sudanese patient.

Adjunctive rifampin therapy for native valve endocarditis in a neonate: A case report and literature review.

Infective endocarditis in neonates can be fatal. Adjunctive rifampin therapy might be effective as salvage therapy in critically ill patients with native valve endocarditis (NVE). We present a case of a full-term neonate with NVE who had a favorable clinical outcome after adding rifampin to standard therapy.

Association between conjunctival goblet cells and corneal resident dendritic cell density changes in new contact lens wearers.

Background: To explore the interlink between conjunctival goblet and corneal dendritic cell density after six months of lens wear and to predict dendritic cell migration to the central cornea based on goblet cell loss in the conjunctiva as a response to contact lens wear.

Methods: Sixty-nine subjects who had never previously worn contact lenses were observed for six months; 46 were fitted with contact lenses and 21 served as a control group. Corneal confocal microscopy was used to quantify goblet and dendritic cell density before and after six months of daily lens wear.

Indicators of Critical Illness and Predictors of Mortality in COVID-19 Patients.

COVID-19 is an emerging disease all over the world and spreading at an unpredicted rate, resulting in significant influences on global economies and public health. Clinical, laboratory, and imaging characteristics have been partially described in some observational studies. Not enough systematic reviews on predictors of critical illness and mortality in COVID 19 have been published to date.

Effect of intra-canal cryotherapy on post-endodontic pain in single-visit RCT: A randomized controlled trial.

Aim: To evaluate the effect of cold and room-temperature normal saline as a final irrigation on post-endodontic pain and to compare the post-endodontic pain level between the different protocols.

Materials And Methods: A randomized controlled trial was conducted on 105 patients who underwent RCT and were distributed blindly and randomly into three equal groups (n = 35): Group 1, Cryotherapy group; Group 2, Room- temperature normal saline group; and Group 3, Control group. The patients were asked to fill out the VAS questionnaire and register their post-endodontic pain at 6, 24, and 48 h.