Angiotensin-Converting Enzyme 2 (G8790A) Gene Polymorphism as a Risk Factor for COVID-19 in Egyptian Children and Adolescents.

Objective: Recently, angiotensin-converting enzyme 2 (ACE2) gene has emerged as a potential candidate gene for susceptibility to SARS-CoV-2 infection. We investigated whether ACE2 G8790A (rs2285666) polymorphism could be a genetic marker for susceptibility to COVID-19 and disease severity in Egyptian children and adolescents.

Methods: This was a prospective case-control study included 580 cases diagnosed with COVID-19, and 580 matched control children and adolescents.

SB16 versus reference denosumab in postmenopausal women with osteoporosis: 18-month outcomes of a phase III randomized clinical trial.

Purpose: This study evaluated the efficacy, safety, pharmacodynamics (PD), pharmacokinetics (PK), and immunogenicity of SB16 versus reference denosumab (DEN) up to 18 months in postmenopausal osteoporosis (PMO) patients, and assessed outcomes after switching from DEN to SB16 compared to those who continued with DEN or SB16.

Methods: 457 PMO patients were initially randomized, with 407 re-randomized at Month 12 to either continue DEN (DEN+DEN), switch to SB16 (DEN+SB16), or continue SB16 (SB16 + SB16) through Month 18. Efficacy was assessed by the percent change from baseline in bone mineral density (BMD) at the lumbar spine, total hip, and femoral neck.

[Prenatal diagnosis analysis of three cases of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes].

Objective: To explore the value of applying multiple genetic testing techniques for the prenatal diagnosis of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes (sSMC).

Methods: Chromosomal karyotypes of amniotic fluid samples from 5 030 pregnant women who had undergone amniocentesis at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January to December 2022 were retrospectively reviewed. Three fetuses with complex mosaicism fetuses (carrying 2 types of sSMC) were selected as the study subjects.

Large descending colon alveolar soft part sarcoma with ASPL-TFE3 fusion gene: Case report and review of the literature.

Introduction: ASPS is a rare, soft tissue tumor which represents 0.2-1 % of soft tissue sarcomas. A characteristic nonreciprocal translocation is found in nearly all cases.

Surgical training trends in the Americas: A cross-continental assessment of minimally invasive surgery and open surgery among surgical trainees.

Introduction: Minimally invasive surgery (MIS) has become standard of care in many high-income countries, but its adoption in low- and middle-income countries (LICs/MICs) has been impeded by resource- and training-related barriers. We hypothesized that trainees in MICs perform MIS procedures less often, and that as procedure complexity increases, the rate of MIS decreases.

Methods: A 22-question survey, distributed to representative leaders across Latin America, collected country-specific graduating trainee case requirements and volumes for four index procedures (cholecystectomy, appendectomy, inguinal hernia repair, colectomy) using MIS or open surgery (OS).

Special Report: Summary of the eighth workshop of the worldwide network for blood and marrow transplantation on the status and issues related to hematopoietic stem cell transplantation in near-east countries, held in Pakistan from September 22 to 23, 2022.

The eighth workshop of the Worldwide Network for Blood and Marrow Transplantation (WBMT) was held in Islamabad, Pakistan, from September 22 to 23, 2022, aiming to foster hematopoietic stem cell transplant (HSCT) activity in the World Health Organization (WHO) Eastern Mediterranean Region (EMRO). Participating countries, including Pakistan, Oman, Iran, and Saudi Arabia, reported increased HSCT in the last few years, whereas others from the EMRO and beyond, including Qatar, United Arab Emirates, Nepal, and Bangladesh, started HSCT recently and have developed HSCT programs with excellent results. During educational sessions and open dialog, participating teams and international experts from the WBMT shared their experience and discussed minimum essential requirements for establishing and expanding HSCT in emerging countries, indications for HSCT training and dissemination of knowledge, stem cell donor selection and safety, quality assurance in transplant centers, and the value and importance of transplant outcome databases.

The Landscape of Cutaneous T-Cell Lymphoma (CTCL) in the Middle East and North Africa (MENA) and the Establishment of the MENA CTCL Working Group.

The high cancer burden in the Middle East and North Africa (MENA region) is coupled with an increasing cancer incidence. While the MENA region constitutes 6% of the world's population, it remains underrepresented in clinical trials. Cutaneous T-cell lymphomas (CTCLs) represent a heterogeneous group of rare extranodal non-Hodgkin lymphomas with variable clinical presentation.

Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.

Background: Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES patients show remarkable phenotypic variability. Despite the progress of molecular cytogenetic technology, the cause of phenotypic variability and the genotype-phenotype correlations remain unknown.

Verification of acromion marker cluster and scapula spinal marker cluster methods for tracking shoulder kinematics: a comparative study with upright four-dimensional computed tomography.

Background: This study validated the accuracy of the acromion marker cluster (AMC) and scapula spinal marker cluster (SSMC) methods compared with upright four-dimensional computed tomography (4DCT) analysis.

Methods: Sixteen shoulders of eight healthy males underwent AMC and SSMC assessments. Active shoulder elevation was tracked using upright 4DCT and optical motion capture system.

Cost-Minimization Analysis for Subcutaneous Daratumumab in the Treatment of Newly Diagnosed Multiple Myeloma in Three Gulf Countries.

The second most common hematologic cancer worldwide is multiple myeloma (MM), with incidence and mortality rates that have more than doubled over the past 30 years. The safety and efficacy of daratumumab regimens in the treatment of newly diagnosed MM (NDMM) is demonstrated in clinical trials. To assess the financial effects of the adoption of subcutaneous daratumumab (dara-SC) rather than intravenous daratumumab (dara-IV) for the treatment of NDMM in three Gulf countries (Qatar, Oman and the United Arab Emirates; UAE), a cost-minimization model was constructed.

Antimicrobial Resistance Profiles of Pseudomonas aeruginosa in the Arabian Gulf Region Over a 12-Year Period (2010-2021).

Objectives: To evaluate literature from a 12-year period (2010-2021) on the antimicrobial resistance profile of Pseudomonas aeruginosa from the Arabian Gulf countries (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and the United Arab Emirates).

Methods: An electronic literature search was conducted for articles on antimicrobial resistance in P. aeruginosa and associated phenotypes, covering the period of 1st January 2010 to 1st December 2021.

Surgical Management of Persistent or New Symptoms After Hiatal Hernia Repair.

Following a hiatal hernia repair, patients can present with recurrent or new symptoms. Symptoms can occur anywhere from weeks to years after surgery. These may include recurrent reflux, dysphagia, regurgitation, weight loss, or deteriorating quality of life.

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis.

Background: Pathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype-phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA.

Methods: Enrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non-isolated group (n = 45).

Tocilizumab use for optic nerve compression in thyroid eye disease: a prospective longitudinal cohort.

Purpose: To assess the effectiveness of tocilizumab in reverting the signs and symptoms of dysthyroid optic neuropathy (DON) in thyroid eye disease and the need for emergency orbital decompression. The secondary outcomes are to identify the optimal number of tocilizumab cycles to achieve the primary outcome, to analyze the association between thyroid stimulating immunoglobulin (TSI), clinical activity score (CAS) and proptosis in response to the treatment and the need for rehabilitative orbital decompression.

Methods: Prospective longitudinal cohort study that included 13 patients who had unilateral or bilateral dysthyroid optic neuropathy (DON) due to severe and progressive sight-threatening thyroid eye disease based on the CAS system.

Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.

Introduction: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X.

[Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes].

Objective: To carry out cytogenetic and molecular genetic analysis for two infertile patients carrying rare small supernumerary marker chromosomes (sSMC).

Methods: Two infertile patients who received reproductive and genetic counseling at CITIC Xiangya Reproductive and Genetic Hospital on October 31, 2018 and May 10, 2021, respectively were selected as the study subjects. The origin of sSMCs was determined by conventional G banding, fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq).

Real-World Registry on the Pharmacotherapy of Multiple Myeloma and Associated Renal and Pulmonary Impairments in the Greater Gulf Region: Protocol for a Retrospective Real-World Data Study.

Background: Multiple myeloma (MM) is the second-most common cancer among hematological malignancies. Patients with active disease may experience several comorbidities, including renal insufficiency and asthma, which may lead to treatment failure. The treatment of relapsed or refractory MM (RRMM) has been associated with multiple factors, causing a decline in progression-free survival as well as overall survival with subsequent lines of therapy.

Capacity for the management of kidney failure in the International Society of Nephrology Middle East region: report from the 2023 ISN Global Kidney Health Atlas (ISN-GKHA).

The highest financial and symptom burdens and the lowest health-related quality-of-life scores are seen in people with kidney failure. A total of 11 countries in the International Society of Nephrology (ISN) Middle East region responded to the ISN-Global Kidney Health Atlas. The prevalence of chronic kidney disease (CKD) in the region ranged from 4.

Corrigendum to "A narrative review of approved and emerging anti-obesity medications" [Saudi Pharm. J. 31(10) (2023) 101757].

[This corrects the article DOI: 10.1016/j.jsps.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS.