Introduction: Congenital pyloric web or diaphragm are rare causes of Gastric Outlet Obstruction (GOO) after infancy, representing approximately 1 % of gastrointestinal obstructions. While it typically presents in the neonatal period with nonbilious vomiting, delayed diagnosis beyond infancy is exceptionally rare.
Presentation Of The Case: An 11-year-old girl with presented with one-month history of postprandial vomiting.
Behçet's disease (BD) is a chronic, relapsing, systemic vasculitis of unknown etiology that affects blood vessels of all sizes, potentially leading to severe complications such as coronary artery aneurysms. This report describes the case of a 33-year-old woman with BD who presented with recurrent chest pain. Imaging revealed a large saccular aneurysm in the left anterior descending artery.
View Article and Find Full Text PDFRheumatology (Oxford)
September 2024
Objectives: To explore prevalence, characteristics and risk factors of COVID-19 breakthrough infections (BIs) in idiopathic inflammatory myopathies (IIM) using data from the COVID-19 Vaccination in Autoimmune Diseases (COVAD) study.
Methods: A validated patient self-reporting e-survey was circulated by the COVAD study group to collect data on COVID-19 infection and vaccination in 2022. BIs were defined as COVID-19 occurring ≥14 days after 2 vaccine doses.
Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic disorders characterized by progressive intrahepatic cholestasis. Different mutations in hepatocellular transport genes result in distinct PFIC subtypes with unique clinical manifestations, laboratory findings, and histopathological characteristics. Three PFIC genotypes have been commonly described (PFIC 1, 2, and 3), but in recent years, PFIC 4, 5, and 6 genetic mutations have been identified.
View Article and Find Full Text PDFSaudi J Gastroenterol
November 2023
Background: Outcomes in biliary atresia (BA) have been well-documented in large national cohorts from Europe, North America, and East Asia. Understanding the challenges that preclude success of the Kasai portoenterostomy (KPE) is the key to improve the overall outcomes of BA and implementing intervention strategies. Here, we analyzed the data from the Saudi national BA study (204 BA cases diagnosed between 2000 and 2018) to identify the prognostic factors of BA outcomes.
View Article and Find Full Text PDFBackground: We utilized the data from the Saudi national biliary atresia (BA) study (2000-2018) to describe the clinical, biochemical, imaging, and histopathological features of BA and the perioperative clinical practices among local pediatric gastroenterologists.
Methods: This is a retrospective, multicenter, nationwide study that included 10 tertiary care governmental hospitals including the four liver transplant (LT) centers in different regions across Saudi Arabia.
Results: BA was diagnosed in 204 infants (106 females; 10% preterm).
Objectives: We investigated coronavirus disease 2019 (COVID-19) vaccine safety in pregnant and breastfeeding women with autoimmune diseases (AID) in the COVID-19 Vaccination in Autoimmune Diseases (COVAD) study.
Methods: Delayed-onset (>7 days) vaccine-related adverse events (AE), disease flares and AID-related treatment modifications were analysed upon diagnosis of AID vs healthy controls (HC) and the pregnancy/breastfeeding status at the time of at least one dose of vaccine.
Results: Among the 9201 participants to the self-administered online survey, 6787 (73.
Limited evidence on long-term COVID-19 vaccine safety in patients with idiopathic inflammatory myopathies (IIMs) continues to contribute to vaccine hesitancy. We studied delayed-onset vaccine adverse events (AEs) in patients with IIMs, other systemic autoimmune and inflammatory disorders (SAIDs), and healthy controls (HCs), using data from the second COVID-19 Vaccination in Autoimmune Diseases (COVAD) study. A validated self-reporting e-survey was circulated by the COVAD study group (157 collaborators, 106 countries) from Feb-June 2022.
View Article and Find Full Text PDFBackground: Spontaneous pneumomediastinum and subcutaneous emphysema are rare and serious complications of dermatomyositis (DM).
Case Presentation: Our article presents two clinically heterogeneous cases of DM who developed pneumomediastinum and subcutaneous emphysema. The first was a 24-year-old lady with a recently diagnosed DM.
Objective: Flares of autoimmune rheumatic diseases (AIRDs) following COVID-19 vaccination are a particular concern in vaccine-hesitant individuals. Therefore, we investigated the incidence, predictors and patterns of flares following vaccination in individuals living with AIRDs, using global COVID-19 Vaccination in Autoimmune Diseases (COVAD) surveys.
Methods: The COVAD surveys were used to extract data on flare demographics, comorbidities, COVID-19 history, and vaccination details for patients with AIRDs.
Unlabelled: The association between adult-onset Still's disease (AOSD) and malignancy has previously been observed. However, only a limited number of cases described a combination of AOSD and leukemia, none of which reported AOSD-related symptoms as the first manifestation of acute myeloid leukemia (AML). This presentation might represent a paraneoplastic syndrome or leukemic arthritis mimicking AOSD.
View Article and Find Full Text PDFObjective: COVID-19 vaccines have a favorable safety profile in patients with autoimmune rheumatic diseases (AIRDs) such as idiopathic inflammatory myopathies (IIMs); however, hesitancy continues to persist among these patients. Therefore, we studied the prevalence, predictors and reasons for hesitancy in patients with IIMs, other AIRDs, non-rheumatic autoimmune diseases (nrAIDs) and healthy controls (HCs), using data from the two international COVID-19 Vaccination in Autoimmune Diseases (COVAD) e-surveys.
Methods: The first and second COVAD patient self-reported e-surveys were circulated from March to December 2021, and February to June 2022 (ongoing).
Background: The 2021 American College of Rheumatology (ACR) rheumatoid arthritis (RA) guideline considers the specific context of the United States which differs from that of Saudi Arabia in many aspects that may impact recommendations. The objective of this project was to adapt a set of prioritized recommendations from the 2021 ACR guideline for the treatment of rheumatoid arthritis RA for the context of Saudi Arabia, by the Saudi Society for Rheumatology (SSR).
Methods: The process followed the GRADE-ADOLOPMENT methodology, and the reporting adhered to the RIGHT-Ad@pt checklist.
Introduction: Since the beginning of the coronavirus disease 2019 (COVID-19) pandemic, there has been a sudden surge in the incidence of several immune-mediated diseases, including dermatomyositis. The reported cases of COVID-19-related dermatomyositis are heterogeneous in their clinical presentation and implemented therapies.
Case Study: We report a 23-year-old female patient diagnosed with a 3-year history of dermatomyositis.
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-ancestry genetic research of RA promises to improve power to detect genetic signals, fine-mapping resolution and performances of polygenic risk scores (PRS). Here, we present a large-scale genome-wide association study (GWAS) of RA, which includes 276,020 samples from five ancestral groups.
View Article and Find Full Text PDFThe use of online surveys as a recruitment tool for clinical research has recently expanded; nevertheless, optimal recruitment strategies remain poorly identified. Objectives. The study aimed to identify the most effective recruitment strategies for online research studies and to determine the optimal survey channels for obtaining patients' responses.
View Article and Find Full Text PDFBackground: The epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian Orientals and Caucasians, with incidence ranging from 1 in 5,000 to 1 in 9,000 live births in East Asia and 1 in 15,000 to 19,000 live births in Europe and North America.
Objective: We report the first nationwide BA study outside North America, Europe, and East Asia to describe the epidemiology and outcomes of BA in Saudi Arabia.
Methods: A national database of BA cases diagnosed between 2000 and 2018 was analyzed.
Background: Rheumatic diseases patients receiving Rituximab had severe COVID-19 disease. Although they had impaired humoral immune responses following COVID-19 vaccine, they had preserved cellular immune responses. Waning of COVID-19 antibody responses was observed within six months post vaccination among immunocompromised patients.
View Article and Find Full Text PDFAxial spondyloarthritis is a chronic inflammatory disorder that primarily involves the axial skeleton (sacroiliac joints and spine), causing stiffness, severe pain and fatigue. In some patients, definitive structural damage of sacroiliac joints is visible on imaging and is known as radiographic axial spondyloarthritis. Some patients do not have a clear radiographic damage of the sacroiliac joints, and this subtype is known as non-radiographic axial spondyloarthritis.
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