59 results match your criteria: "Bar Ilan University Faculty of Medicine[Affiliation]"

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Am J Ophthalmol

February 2024

Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria (D.G.-A., T.M., A.R.J.); Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria (A.R.J.). Electronic address:

Article Synopsis
  • The study investigates the genetic causes of Lisch epithelial corneal dystrophy (LECD) through a multicenter cohort involving 27 individuals from 17 families.
  • Researchers found nine rare variants of the MCOLN1 gene in 23 patients, indicating that mutations in this gene lead to LECD and potentially other conditions like mucolipidosis IV (MLIV).
  • The findings suggest that while MCOLN1 haploinsufficiency is the main contributor to LECD, there is variability in how strongly the condition manifests, highlighting a complex relationship between genetics and disease expression.
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Article Synopsis
  • Inborn-Errors of Metabolism (IEM) are genetic disorders caused by mutations in genes related to metabolic pathways, with some lacking specific biochemical markers.
  • Integrating next-generation sequencing (NGS), especially whole exome sequencing (WES), into IEM diagnostics enhances accuracy, supports genetic counseling, and broadens treatment options.
  • For example, supplementing amino acids has shown positive effects on patients with deficiencies in aminoacyl-tRNA synthetases (ARSs), improving both biochemical and clinical outcomes.
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Unlabelled: The Ultra-Orthodox Jewish population has behaviors that can influence the risk for osteoporotic fractures. We investigated whether this population is more prone to osteoporotic fractures than non-Orthodox Jewish. We did not find a significant difference in osteoporotic fracture rates between the two populations despite major differences in exposure to potential risk factors.

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Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease, presents in childhood. Additional nonclassical landmarks of APS1 continue to develop as late as the fifth decade of life.

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Background: Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia. The flow cytometric test using eosin-5'maleimide (EMA) is a well-established diagnostic method. However, in order to improve HS detection, it is recommended that EMA and an osmotic fragility test (OFT) both be performed.

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A 14-year-old girl, a rear seat passenger on a jet-ski not wearing suitable protective gear, was 'jumping' waves at a low velocity when she was ejected backwards off the vehicle, suffering a complex and unusual hydrostatic perineal injury as a result of the high-pressure water stream propelling the jet-ski. She presented to the emergency room with rectal bleeding and perineal and abdominal pain. Initial investigations revealed signs of anorectal injury and both intraperitoneal and extraperitoneal free air and fluid, suggesting a possible rectal perforation.

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Purpose: A surgical technique was developed in the past by our group to reduce the rate of inadvertent complications. It was then seemed that it also increased the rate of complete lesion excision. The objective of the study was to evaluate the effectiveness of a cervical traction suture technique in increasing the prevalence of complete lesion excisions and reducing the incidence of unintended injuries to adjacent tissues during large loop excision of the transformation zone (LLETZ).

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Background: Iron deficiency anemia (IDA) is associated with decreased appetite. The ghrelin hormone is one of the major regulators of appetite.

Objectives: To evaluate appetite and ghrelin levels in patients with IDA, and to investigate the change in appetite and ghrelin following intravenous iron therapy.

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Background: A walking blood bank (WBB) refers to the use of fellow combatants for battlefield blood donation. This requires pretesting combatants for infectious diseases and blood type. A fundamental prerequisite for this technique is that the donating soldier will suffer minimal physiological and mental impact.

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Background: The Israeli Defense Force Medical Corps (IDF-MC) recently implemented the use of low titer group O whole blood (LTOWB) in the airborne combat search and rescue unit (CSAR) for both military and civilian patients during transport to definitive care. LTOWB is preferentially used by the CSAR instead of red blood cell units and freeze-dried plasma (FDP) for patients with signs of hemorrhagic shock. Ten percent of group O donors were eligible to donate LTOWB as they had anti-A and -B IgM titers of <50.

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Autism spectrum disorder (ASD) presents a wide, and often varied, behavioral phenotype. Improper assessment of risks has been reported among individuals diagnosed with ASD. Improper assessment of risks may lead to increased accidents and self-injury, also reported among individuals diagnosed with ASD.

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Background: The potential for full rehabilitation following amputation among end-stage renal disease patients is poor.

Objectives: To evaluate the functional outcomes and survival among amputees treated with hemodialysis at the end of the rehabilitation procedure.

Methods: We recruited 46 patients after lower limb amputation.

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Introduction: Only in 2005 was a product labeling law passed in Israel that requires food companies to mark a choking hazard. We wished to investigate the influence of the hazard warning on the number of foreign body aspirations (FBA) in Israel, as well as the racial differences in the prevalence of and death rates from FBA.

Materials And Methods: All the medical records of patients under the age of 14 who arrived at our center's emergency department between the years 2007 and 2015 with suspected FBA were retrospectively reviewed.

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Approximately 10 years ago, the development of hemoglobin-based oxygen carriers (HBOCs) was largely stalled after two large phase 3 clinical trials failed to achieve licensure primarily because the safety profile was viewed as unsatisfactory when HBOCs were compared with red cells. Concerns were also raised that HBOCs, as a class, had inherent toxicities. Since then, clinical experience with HBOCs in expanded access programs and under licensure in South Africa has demonstrated that HBOCs can be used safely and effectively.

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The promising future of drones in prehospital medical care and its application to battlefield medicine.

J Trauma Acute Care Surg

July 2019

From the Military Track of Medicine, The Hebrew University-Hadassah Medical School (J.B., S.D.G. A.F., T.B., H.F., J.C., D.N.) Jerusalem, Israel; The Institute for Research in Military Medicine, Faculty of Medicine, The Hebrew University of Jerusalem and Israel Defense Forces Medical Corps. (S.D.G., T.B., D.N.); the Saul and Joyce Brandman Cardiovascular Research Hub, Institute for Medical Research, Faculty of Medicine, The Hebrew University of Jerusalem (S.D.G.); the Medical Innovation Branch, Israel Defense Forces Medical Corps (A.F.); the Headquarters of the Surgeon General, Israel Defense Forces Medical Corps (T.B., H.F.), Ramat Gan, Israel; the Trauma & Combat Medicine Branch, Israel Defense Forces Medical Corps (J.C.), Ramat Gan, Israel; the Medical Services Command, Israel Defence Forces Medical Corps, Bar Ilan University Faculty of Medicine, Safed, Israel and The Uniformed Services University of the Health Sciences (E.G.), Bethesda, Maryland; and the Department of Internal Medicine A, Hadassah University Hospital (D.N.), Jerusalem, Israel.

Unmanned aerial vehicles, commonly referred to as drones, have been made widely available in recent years leading to an exponential growth in their roles and applications. The rapidly developing field of medical drones is on the verge of revolutionizing prehospital medicine enabling advanced health care delivery to once-inaccessible patients. The aim of this review is to clarify the basic technical properties of currently available medical drones and review recent advances and their usefulness in military and civilian health care missions.

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Israel has compulsory military service, beginning at the age of 18. Women serve about two years and men for about three years. However, de facto only some of the potential service entrants are recruited.

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Background & Aims: Acute hepatitis C (AHC) is not frequently identified because patients are usually asymptomatic, although may be recognized after iatrogenic exposures such as needle stick injuries, medical injection, and acupuncture. We describe an outbreak of AHC among 12 patients who received IV saline flush from a single multi-dose vial after intravenous contrast administration for a computerized tomography (CT) scan. The last patient to receive IV contrast with saline flush from a multi-dose vial at the clinic on the previous day was known to have chronic HCV genotype 1b (termed potential source, PS).

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The impact of prehospital administration of freeze-dried plasma on casualty outcome.

J Trauma Acute Care Surg

January 2019

From the The Israel Defense Forces Medical Corps, Tel-Hashomer, Israel (S.A., G.E., Y.A.); Israel National Center for Trauma and Emergency Medicine (S.-T.M., R.I., P.K.), Gertner Institute for Epidemiology and Public Health Policy, Tel-Hashomer, Israel; Department of Disaster Management (P.K.), School of Public Health, Tel Aviv University, Tel Aviv, Israel; Division of Trauma and Emergency Surgery, Department of Surgery (K.Y.), Sheba Medical Center, Ramat-Gan, Israel; The Uniformed Services (G.E.), University of the Health Sciences, Bethesda, MD and Bar-Ilan University Faculty of Medicine (G.E.), Safed, Israel.

Background: Hemorrhage is the most common preventable cause of death in both civilian and military trauma. There is no consensus regarding the appropriate fluid resuscitation protocol. Plasma, as a resuscitative fluid, has substantial benefits as a volume expander, owing to its relatively high oncotic pressure and its positive effect on trauma-induced coagulopathy by replenishing the lost coagulation factors, rather than diluting the casualty's remaining factors.

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Introduction: Life expectancy of less than 1 year is usually a contraindication for implantable cardioverter defibrillator (ICD) implantation. The aim was to identify patients at risk of death during the first year after implantation.

Methods And Results: Data were derived from a prospective Israeli ICD Registry.

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Trauma Hemostasis and Oxygenation Research Network position paper on the role of hypotensive resuscitation as part of remote damage control resuscitation.

J Trauma Acute Care Surg

June 2018

From the Academic Department of Military Anaesthetics and Critical Care (T.W.), Royal Centre for Defence Medicine, Birmingham, United Kingdom; UK Paramedic (P.T.), THOR Steering Committee, Scotland; Combat Casualty Care (E.K.), Medical & Trauma Sciences, Defence Science and Technology Laboratory, Wiltshire; 16 Medical Regiment (R.R.), Colchester, United Kingdom; Anaesthesia and Intensive Care (S.A.), Val de Grâce Military Academy, Paris, France; Royal Canadian Medical Services (A.B.), McGill University, Montreal, Canada; Department of Anaesthesia and Intensive Care (C.B.), Haukeland University Hospital, Bergen, Norway; Coagulation and Blood Research (A.C.), US Army Institute of Surgical Research, San Antonio, Texas; Emergency Medicine (T.C.), University of Leicester, Leicester, United Kingdom; Surgery (M.C.), University of Colorado School of Medicine, Aurora; Paramedic NREMT (M.D.); Trauma/Acute Care Surgery (W.D.), University of Colorado Health, Denver, Colorado; Transfusion Medicine (H.D.), NHS Blood and Transplant, Watford, United Kingdom; Chief Quality Officer (R.D.); Department of Surgery (B.E.), UT Health Science Center, San Antonio, Texas; Israel Defense Forces Medical Corps. (E.G.), Bar-Ilan University Faculty of Medicine, Safed, Israel; Peninsula Trauma Network (A.H.), Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom; Division of Trauma and Emergency Surgery (D.J.), UT Health San Antonio, San Antonio, Texas; Special Operations Command Europe (S.K.), Stuttgart, Germany; Transfusion Medicine and Cell Therapy (C.M.), French Military Blood Institute, Clamart, France; 75th Ranger Regiment (E.M.); Surgery (E.M.), University of Colorado Denver, Denver, Colorado; Military Anaesthesia (G.N.), Royal Centre for Defence Medicine, Birmingham, United Kingdom; Combat Casualty Care (N.P.), French Armed Forces Institute of Biomedical Research; Acute Care Surgery, Toulon, France (J.R.), Tufts University School of Medicine, Boston, Massachusetts; Military Medicine and Surgery (M.R.), Australian Defence Force Joint Health Command and Faculty of Medicine, University of Queensland, Queensland, Australia; Interventional Cardiology, Acute & Prehospital Medicine (P.R.), University of St Andrews School of Medicine, St Andrews, Scotland; Department of Military Surgery and Trauma (R.R.), Royal Centre for Defence Medicine, Birmingham, United Kingdom; Division of Trauma, Critical Care & Acute Care Surgery (M.S.), Oregon Health Sciences University, Portland, Oregon; Department of Defense (S.S.), Joint Trauma System; Norwegian Naval Special Operations Commando (H.S.), University of Bergen, Bergen, Norway; Department of Emergency Medicine (J.S.), General Practise (M.S.), Royal Centre for Defence Medicine, Birmingham, United Kingdom; Department of Pediatrics (P.S.), Washington University in St Louis School of Medicine, St Louis, Missouri; Department of Immunology and Transfusion Medicine (G.S.), Norwegian Armed Forces Medical Services, Oslo, Norway; Department of Emergency Medicine (K.W.), University of Michigan, Ann Arbor, Michigan; Combat Casualty Care (S.W.), Medical & Trauma Sciences, Defence Science and Technology Laboratory, Salisbury, United Kingdom; Division of Emergency Medicine (N.W.), Washington University of Medicine, Seattle, Washington; and Institute of Cruise Ship Medicine (S.W.), REVA Air Ambulance, Fort Lauderdale, Florida.

The Trauma Hemostasis and Oxygenation Research (THOR) Network has developed a consensus statement on the role of permissive hypotension in remote damage control resuscitation (RDCR). A summary of the evidence on permissive hypotension follows the THOR Network position on the topic. In RDCR, the burden of time in the care of the patients suffering from noncompressible hemorrhage affects outcomes.

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Increased chemokine C-X-C receptor 4 (CXCR4) expression is related to unfavorable outcome in chronic lymphocytic leukemia (CLL). Brain-derived neurotrophic factor (BDNF) is a neuronal growth factor that has been shown previously to interact with CXCR4 in neuronal cells. Here, we studied the in vitro effect of BDNF on CXCR4 expression and chemotaxis toward stromal derived factor-1 (SDF-1) in freshly isolated CLL cells.

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While both individual transcription factors and cis-acting sites have been studied in relation to psychiatric disorders, there is little knowledge of the relative contribution of trans-acting and cis-acting factors to gene transcription in the brain. Using an RNA-seq approach in mice bred from two evolutionary-distinct mice strains, we determined the contribution of cis and trans factors to gene expression in the prefrontal cortex and amygdala, two regions of the brain relevant to the stress response, and the contribution of cis and trans factors in the prefrontal cortex after Chronic Social Defeat (CSD) in mice. More genes were regulated by cis-regulatory factors in both brain regions, underlying the importance of cis-acting gene regulation in the brain.

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