Browsing Faculty Publications (CoM) by Title
Now showing items 625-644 of 852
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Rapid detection of European orthobunyaviruses by reverse transcription loop-mediated isothermal amplification assays
(2016)Abstract: The development of reverse transcriptase loop-mediated isothermal amplification (RT-LAMP) assays are described herein for the detection of two orthobunyaviruses (Bunyaviridae), which represent the two main ... -
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations
(2022)Abstract: We describe a case series of fve infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Chil dren’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, ... -
A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates
(2023)Introduction: A large body of evidence now supports use of rapid whole-genome sequencing (rWGS) as a cost-effective tool for timely diagnosis and tailored management of critically ill children with rare diseases. However, ... -
Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neuroendocrine Tumor (ROHHADNET) Syndrome: A Case Report
(2023)Abstract: Here, we report the case of a rare and complex disorder, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neuroendocrine tumor (ROHHADNET) syndrome, in a threeyear-old ... -
A rare case of blue nevus in the rectum
(2019)Abstract: A 54 year old female of Sudanese origin with a history of hypothyroidism and hyperlipidemia presented to the gastroenterology department complaining of chronic abdominal pain, nausea and heartburn. Colonoscopy ... -
A rare case of gastric duplication cyst in a male paediatric Caucasian patient: a case report
(2022)Abstract: Anywhere in the alimentary canal, you can find a gastric duplication cyst, a spherical muscle formation lined by mucosal membrane. It is an uncommon example of a group of congenital intestinal abnormalities. ... -
A Rare Case of Miller Fisher Syndrome in a 45- Year-Old Female
(2023)Abstract: Miller Fisher syndrome (MFS) is an uncommon form of Guillain-Barré syndrome (GBS), a neurological condition that is acquired, degenerative, demyelinating, and frequently characterized by gradual, symmetrical ... -
A Rare Case of Primary Mycobacterium tuberculosis Myositis of the Thigh in an Immunocompetent Infant
(2023)Abstract: Mycobacterium tuberculosis (MTB) infection is a serious health condition that affects individuals of all age groups. Although MTB infections are more common in immunocompromised patients, they are frequently ... -
A Rare Case of Sarcoidosis Presenting as an Isolated Breast Mass and Pain: A Case Report and Literature Review
(2023)Abstract: Objective: Rare disease Background: Sarcoidosis is a benign systemic granulomatous disorder of unknown etiology that affects multiple organs. Patients diagnosed with sarcoidosis usually present with nonspecific ... -
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
(2023)Background: We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15–20% of cases ... -
Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder
(2017-09)Abstract: We systematically analyzed post-zygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and ... -
Re: The Impact of COVID-19 Vaccine on Sperm Quality
(2022)Experts summary: Owing to concerns about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on male fertility and the potential analogous effects of the coronavirus vaccine, Barda and colleagues ... -
Readiness to Embrace Artificial Intelligence Among Medical Doctors and Students: Questionnaire-Based Study
(2022)Background: Similar to understanding how blood pressure is measured by a sphygmomanometer, physicians will soon have to understand how an artificial intelligence–based application has come to the conclusion that a patient ... -
Recent advances in the immunopathogenesis of severe asthma
(2022)Abstract: Severe asthma is a heterogeneous disease encompassing different phenotypes and endotypes. Although patients with severe asthma constitute a small proportion of the total population with asthma, they largely ... -
Recent advances in vitamin D implications in chronic respiratory diseases
(2022)Abstract: Chronic airway inflammatory and infectious respiratory diseases are the most common medical respiratory conditions, associated with significant morbidity and mortality. Vitamin D (1,25(OH)2D3) deficiency has ... -
Reconnoitering the Role of Long-Noncoding RNAs in Hypertrophic Cardiomyopathy: A Descriptive Review
(2021)Abstract: Hypertrophic cardiomyopathy (HCM) is the most common form of hereditary cardiomyopathy. It is characterized by an unexplained non-dilated hypertrophy of the left ventricle with a conserved or elevated ejection ... -
Reconnoitering the Therapeutic Role of Curcumin in Disease Prevention and Treatment: Lessons Learnt and Future Directions
(2022)Abstract: Turmeric is a plant with a very long history of medicinal use across different cultures. Curcumin is the active part of turmeric, which has exhibited various beneficial physiological and pharmacological effects. ... -
Recruitment and retention strategies, policies, and their barriers: A narrative review in the Eastern Mediterranean Region
(2020)Background: Understanding factors affecting recruitment and retention of health workers in rural and remote communities is necessary for proper policy development and the equitable achievement of Universal Health ... -
Reduction in prevalence of spousal physical violence against women in India: evidence from three national surveys
(2023)Abstract: Spousal physical violence (PV) against women is considered to be major health issue in developing countries. Lifetime physical violence is a composite outcome consists of hit, kick, beat, slap and threatened ... -
Regression Analysis between the Different Breast Dose Quantities Reported in Digital Mammography and Patient Age, Breast Thickness, and Acquisition Parameters
(2022-07)Abstract: Breast cancer is the leading cause of cancer death among women worldwide. Screening mammography is considered the primary imaging modality for the early detection of breast cancer. The radiation dose from ...