Qatar's genetic counseling landscape: Current insights and future prospects.

Genetic counseling is a dynamic and rapidly growing field. In Qatar, the significance of genetic counseling is underscored by the distinctive demographic characteristics of the population, including elevated rates of consanguinity and larger family sizes, contributing to the increased incidence of many genetic conditions. This emphasizes the crucial role of genetic counseling in addressing the specific needs of the community.

Causes and Pattern of Chest Trauma Among Adults: A Scoping Review of Studies From the Middle East.

Chest trauma incidence is increasing worldwide, and it requires attention as it is a major cause of morbidity and mortality. Worldwide, chest trauma is the second most common cause of mortality and a major cause of disability and hospitalization. Our main aim is to systematically review the prevalence, pattern, causes, manner, morbidity, and mortality of chest trauma in the Middle East among adults.

COVID-19 in patients with rheumatological diseases in the Eastern Province of Saudi Arabia.

The severity of the 2019 coronavirus disease (COVID-19) and its effects remain unpredictable. Certain factors, such as obesity, hypertension, and type 2 diabetes mellitus, may increase the severity of the disease. Rheumatology experts suggest that patients with active autoimmune conditions and controlled autoimmune diseases on immunosuppressive therapy may be at higher risk of developing severe COVID-19.

-specific machine learning model predicts variant pathogenicity with high accuracy.

Identification of novel variants outpaces their clinical annotation which highlights the importance of developing accurate computational methods for risk assessment. Therefore our aim was to develop a -specific machine learning model to predict the pathogenicity of all types of variants and to apply this model and our previous specific model to assess variants of uncertain significance (VUS) among Qatari patients with breast cancer. We developed an XGBoost model that utilizes variant information such as position frequency and consequence as well as prediction scores from numerous in silico tools.

Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the Gene in the State of Qatar: A Case Report.

Methemoglobinemia (MetHb) is a rare hematological condition characterized by high methemoglobin levels in the blood. It happens when hemoglobin is oxidized, resulting in hypoxia and cyanosis, which may occur in inherited or acquired forms. Inherited or congenital methemoglobinemia is a rare autosomal recessive condition and has never been reported in the Arab population.

Emergence of Post COVID-19 Vaccine Autoimmune Diseases: A Single Center Study.

Introduction: Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) became a major concern since the announcement that it is a pandemic in early 2020. Vaccine trials were started in November 2020, and completed rapidly due to the urgency to get over the infection. Side effects to vaccines started to be reported.

Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.

Lynch syndrome (LS) is the most common cause of hereditary colorectal cancers (CRC) and is associated with an increased risk for ovarian and endometrial cancers. There is lack of knowledge on the epidemiology of LS in the non-Caucasian populations especially in Qatar. The aim of this retrospective study is to explore the prevalence of LS in a selected high-risk cohort in the State of Qatar in addition to investigating the frequency and genotype-phenotype correlation associated with mismatch repair genes pathogenic variants.

Hepatobiliary manifestations of COVID-19 and their impact on severity and outcomes in a single center in Saudi Arabia.

Recognizing hepatic manifestations of COVID-19 and their impact on the severity and outcome is crucial in managing this emerging pandemic. However, we lack such reported data in Saudi Arabia regarding this clinical entity. This is a retrospective observational study conducted on 387 patients with COVID-19 disease who were hospitalized at King Fahad Hospital of the University from March-September 2020.

Clinical outcome of pre-operative blood transfusion for sickle cell disease patients in post-operative complications.

Background: Preoperative blood transfusion for patients with sickle cell disease is a debatable topic and it can be lifesaving. Sickle cell disease patients are at high risk for vaso-occlusive crisis due to the large concentration of sickle hemoglobin (HgbS) in their blood. Despite the current extensive research into this disease, there is still no consensus over whether blood transfusion is a preferable preoperative modality among patients undergoing elective surgical procedures.

The Impact of Vaccination Against SARS-CoV-2 Virus on the Outcome of COVID-19 Disease.

Background: Coronavirus disease 2019 (COVID-19) is a rapidly spreading infection that is on the rise. New variants are continuously appearing with variable degrees of lethality and infectivity. The extensive work since the start of the pandemic has led to the evolution of COVID-19 vaccines with varying mechanisms.

Gastrointestinal manifestations of COVID-19 in a single center in the Eastern Province of Saudi Arabia.

Background: Several gastrointestinal (GI) symptoms have been associated with novel coronavirus disease-2019 (COVID-19). Their prevalence and relation to the severity and hospital outcome of COVID-19 have not been well reported in the Middle East and Saudi Arabia. We aimed to examine the GI manifestations of COVID-19 and their association with the severity and hospital outcome of COVID-19 infection.

Delayed Hemolytic Transfusion Reaction in Sickle Cell Disease: A Case Series.

BACKGROUND Transfusion therapy has a well-established role in the management of several sickle cell disease (SCD)-related complications. Nevertheless, the benefits of transfusion must outweigh the possible risks, including iron overload, infections, and transfusion reactions. Alloimmunization is the underlying etiology of most delayed hemolytic transfusion reactions (DHTR).

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking phenotypic heterogeneity.

Delayed presentation of massive haemoptysis from aortic aneurysm after aortic coarctation repair (a case report).

Introduction: Massive haemoptysis refers to coughing and losing a huge amount of blood in a 24-hour period. It's a life-threatening condition with high mortality rate.

Case Presentation: We report a rare case of massive haemoptysis in a 60-year-old female patient who had aortic coarctation repair 30 years ago.

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant in the RAB27A gene (NM_004580.4: c.

Pancytopenia And Limbic Encephalopathy Complicating Immunotherapy For Clear Cell Endometrial Cancer With Microsatellite Instability-High (MSI-H).

Background: Clear cell carcinoma of the endometrium (CCE) has a tendency to occur in a mismatch repair protein deficient molecular background. Treatment with immunotherapy can predict a favorable response.

Case Presentation: We are presenting a 53-year-old female, diagnosed with CCE 17 years ago, who was treated initially with hysterectomy and left salpingo-oophorectomy, who relapsed a few months later, and was then treated with left pelvic mass excision and sigmoidectomy.

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Background: Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those that are heterogeneous in etiology and clinical presentation. Reporting large CES series can inform guidelines on best practices for test utilization, and improves accuracy of variant interpretation through clinically-oriented data sharing.

Methods: This is a retrospective series of 509 probands from Qatar who underwent singleton or trio CES either as a reflex or naïve (first-tier) test from April 2014 to December 2016 for various clinical indications.

Clinical genetics and genomic medicine in Qatar.

Clinical genetics and genomic medicine in Qatar. [Image: see text]

Exploring the effectiveness of crisis counseling and psychoeducation in relation to improving mental well-being, quality of life and treatment compliance of breast cancer patients in Qatar.

Background: An insufficient number of studies have been carried out in the Middle East to evaluate the role of structured psychotherapeutic interventions in enhancing breast cancer patients' psychological well-being, quality of life and treatment compliance. This study has been designed to address this limitation by exploring the benefit of two structured psychotherapeutic interventions, crisis counseling and psychoeducation, in enhancing breast cancer patients' psychological well-being, quality of life and treatment compliance in Qatar.

Methods: A total of 201 women with early-stage breast cancer from the state of Qatar were recruited and randomized into either the control group or one of the treatment groups (crisis counseling or psychoeducation).