Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset.

Here we present the generation of HIMRi006-A and HIMRi007-A Pompe disease (PD) patient derived human induced pluripotent stem cell (hiPSC) lines. HIMRi006-A represents an infantile onset disease (IOPD) phenotype caused by a homozygous c.307 T > G mutation in the GAA gene.

Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.

Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1-patients were investigated by proteomics.

Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.

Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi004-A and HIMRi005-A from dermal fibroblasts of a 48-year-old female (HIMRi004-A) carrying missense mutation that translate to the first described filamin C isoform p.W2710X and from a 56-year-old female (HIMRi005-A) carrying a recently described mutation in the same domain p.Y2704X.

Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease.

Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi002-A and HIMRi003-A, generated from cultured dermal fibroblasts of 61-year-old (HIMRi002-A) and 38-year-old (HIMRi003-A) female patients, carrying a known heterozygous pathogenic variant (p.A46T) in the Caveolin 3 (CAV3) gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi002-A and HIMRi003-A display typical embryonic stem cell-like morphology, carry the p.

Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy.

Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the filamin C (FLNC)-gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC.

Design, Synthesis and Biological Evaluation of 1,4-Benzenesulfonamide Derivatives as Glyoxalase I Inhibitors.

Background: Glyoxalase system is one of the defense cellular mechanisms that protect cells against endogenous harmful metabolites, mainly methylglyoxal (MG), through conversion of cytotoxic methylglyoxal into the non-toxic lactic acid. Glyoxalase system comprises of two enzymes glyoxalase I, glyoxalase II, and a catalytic amount of reduced glutathione. Cancerous cells overexpress glyoxalase I, making it a target for cancer therapy.

Pneumocephalus secondary to a spinal surgery: A literature review and a case report.

Introduction: We report a case of pneumocephalus, which is identified as the presence of air in the cranial cavity and is a rare complication after spinal surgeries, in addition to a literature review of similarly reported cases.

Case Presentation: The patient is a 63-year-old male who developed pneumocephalus after undergoing a minimally invasive left side decompression at L3-L4 with left L4 foraminotomy even though there were no signs of dural tears or Cerebrospinal Fluid (CSF) leaks. After the diagnosis of pneumocephalus using brain Magnetic Resonance Imaging (MRI), the patient was treated conservatively and was discharged after 3 weeks without developing further complications.

Knowledge, attitudes, and impact of COVID-19 pandemic among neurology patients in Jordan: a cross-sectional study.

Background: The impacts of the COVID-19 pandemic on health services offered to patients with non-communicable diseases, including chronic neurological illnesses, are diverse and universal. We used a self-reported questionnaire to investigate these impacts on neurology patients in Jordan and assess their knowledge and attitudes towards the pandemic.

Results: Most respondents had positive attitudes towards the COVID-19 pandemic, with 96% reporting they believed in the seriousness of the pandemic and adhered to prevention measures.

Impact of COVID-19 on medical students' mental wellbeing in Jordan.

COVID-19 has spread throughout the world and has resulted in significant morbidity, mortality, and negative psychological impact. This prospective cross-sectional study is exploring the effect of the pandemic on mental health of medical students. The study was conducted at six Jordanian medical schools using an online survey to collect students' socio-demographic and academic data.

The influence of anesthesia type on perioperative maternal glycemic-stress response during elective cesarean section: A prospective cohort study.

Background: It has been known that the type of anesthesia can affect the stress response to surgery in form of hyperglycemia. This study aims to evaluate and compare the influence of general anesthesia (GA) and spinal anesthesia (SA) on pregnant women who are scheduled to undergo cesarean section (CS) and to understand the impact of obstetrical factors on the maternal hyperglycemic-stress response during CS.

Methods: Prospectively, we identified, assessed and followed those pregnant women who were scheduled to undergo elective CS surgery.

Successful Anesthetic Management in Cesarean Section for Pregnant Woman with COVID-19.

BACKGROUND The current COVID-19 pandemic highlights the importance of the mindful use of financial and human resources. Preventing infections and preserving resources and manpower are crucial in healthcare. It is important to ensure the ability of surgeons and specialized interventionalists to function through the pandemic.

Association between Depression and Factors Affecting Career Choice among Jordanian Nursing Students.

Background: Although stress reaction is high among nursing staff and nursing students in the Middle East and its effect on life is known, there are scant studies reporting on these clinical and social features. In addition, there are no studies reporting on factors that influence career choice among this group.

Aim: This study aimed to investigate factors that influence career choice among nursing students and their possible association with depressive symptoms.