A founder mutation in causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.

Carbonic anhydrase VA (CA-VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA-VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.

Fibromuscular Dysplasia Implicated in Spontaneous Coronary Artery Dissection (SCAD): A Case Report of Chest Pain in Young Women.

Spontaneous coronary artery dissection (SCAD) is a well-recognized cause of acute coronary syndrome (ACS) which can lead to myocardial infarction and sudden death. Unlike typical atherosclerosis, SCAD operates through distinct pathophysiology, affecting both individuals with and without conventional cardiovascular risk factors. We present a case of a young female presented with retrosternal chest pain radiating to the left arm, mimicking ACS symptoms with mildly elevated troponin levels, and slightly reduced left ventricular ejection fraction (45%).

Empiric anti-Giardia therapy in non-diarrheal protein-losing enteropathy: A focus on children with monogenic humoral immunodeficiency.

Chronic giardia infection can lead to non-erosive gastrointestinal disorders, including protein-losing enteropathy (PLE). This report describes non-diarrheal PLE in chronic giardiasis in children with defective humoral immunity. Methods: The retrospective report is related to 2 children known to have a monogenic inborn error of immunity.

Immune dysregulation caused by homozygous mutations in CBLB.

CBL-B is an E3 ubiquitin ligase that ubiquitinates proteins downstream of immune receptors to downregulate positive signaling cascades. Distinct homozygous mutations in CBLB were identified in 3 unrelated children with early-onset autoimmunity, one of whom also had chronic urticaria. Patient T cells exhibited hyperproliferation in response to anti-CD3 cross-linking.

Evaluation of pulmonary blood flow in bilateral bidirectional Glenn shunts: value of 4-D flow cardiac magnetic resonance in the evaluation of pulmonary artery confluence stenosis.

Bilateral bidirectional Glenn shunts are associated with the risk of developing pulmonary artery bifurcation stenosis, resulting in variable pulmonary blood flow to either lung. This could negatively impact the subsequent stages of the single ventricle palliation pathway. This report highlights the value of 4D flow sequence from the cardiac magnetic resonance imaging in demonstrating the pulmonary blood flow characteristics following a bilateral bidirectional Glenn procedure.

Transition readiness in adolescents and young adults with chronic rheumatic disease in Oman: today's needs and future challenges.

Introduction: In Oman, the ""transition" of health care of adolescents to adult care occurs at a young age, like many other GCC countries for cultural reasons. In order to address this concern, this study was conducted to determine the transition readiness skills of adolescents and young adults with childhood onset rheumatic diseases using a cross-cultural adaptation of the UNC TRxANSITION scale.

Methods: We used a professionally translated/back translated, provider-administered UNC TRANSITION Scale.

Convalescent Plasma Therapy in Critically Ill COVID-19 Patients: An Open Label Trial.

Objectives: The novel severe acute respiratory syndrome coronavirus 2 pandemic continues to spread globally without an effective treatment. In search of the cure, convalescent plasma (CP) containing protective antibodies from survivors of coronavirus disease 2019 (COVID-19) infection has shown potential benefit in a non-intensive care unit setting. We sought to evaluate the effectiveness of CP therapy for patients with COVID-19 on mechanical ventilation (MV) and/or acute respiratory distress syndrome (ARDS).

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Purpose: Within this study, we aimed to discover novel gene-disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS).

Methods: We followed two approaches: (1) a patient-centered approach, which after routine diagnostic analysis systematically interrogates variants in genes not yet associated to human diseases; and (2) a gene variant centered approach. For the latter, we focused on de novo variants in patients that presented with neurodevelopmental delay (NDD) and/or intellectual disability (ID), which are the most common reasons for genetic testing referrals.

Global Impact of COVID-19 on Stroke Care and IV Thrombolysis.

Objective: To measure the global impact of COVID-19 pandemic on volumes of IV thrombolysis (IVT), IVT transfers, and stroke hospitalizations over 4 months at the height of the pandemic (March 1 to June 30, 2020) compared with 2 control 4-month periods.

Methods: We conducted a cross-sectional, observational, retrospective study across 6 continents, 70 countries, and 457 stroke centers. Diagnoses were identified by their ICD-10 codes or classifications in stroke databases.

Spondylo-ocular Syndrome Due to a Novel Variant in in an Omani Patient.

Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.

A first case report of hypohidrotic ectodermal dysplasia from Oman.

This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.

Emerging and neglected zoonoses in transplant population.

Zoonoses represent a problem of rising importance in the transplant population. A close relationship and changes between human, animal and environmental health ("One Health" concept) significantly influence the transmission and distribution of zoonotic diseases. The aim of this manuscript is to perform a narrative review of the published literature on emerging and neglected zoonoses in the transplant population.

Anaplastic large cell lymphoma of scrotal skin.

Cutaneous T cell lymphoma (CTCL) is an uncommon diverse group of lympho-proliferative disorders involving the skin. They vary considerably in clinical presentation, microscopic features and immunophenotyping. The diagnosis is challenging, zealous, and often not easy.

Attitude of the Omani population toward organ transplantation.

Unlabelled: Transplantation from deceased donors is still scarce in Oman, mainly due to family refusal. We conducted a survey to learn the attitudes of the Omani population regarding transplantation.

Subjects And Methods: Among 500 individuals who were distributed, a questionnaire 304 responded including 247 (81%) Omani and 57 (19%) foreign residents.

Pregnancy and mechanical heart valves replacement; dilemma of anticoagulation.

Objectives: To establish a uniform anticoagulation regimen for pregnant patients with mechanical heart valves taking into account the socio-economic background and to evaluate the incidence of anticoagulant related complications.

Methods: A retrospective study on 63 pregnancies in 21 women with mechanical heart valves was evaluated. These pregnancies were divided into two groups: Group I (n=42) received oral anticoagulants throughout pregnancy and Group II (n=21) received subcutaneous heparin in the 1st trimester and oral anticoagulants for the rest of pregnancy period.