Recent Publications
Anthony Luder, Alon Yulevich: Pediatrician, watch out for corona-phobia (Eur J Pediatr .)
The current outbreak of COVID-19 raging globally is taking a heavy toll on the adult population, with a rapidly growing number of newly infected and critically ill patients. However, to date, mortality rate among children is low as they mostly suffer from a mild disease. Yet, other more routinely encountered childhood diseases do not stand still and continue to be the main share of pediatricians' everyday challenges....Our objective is to highlight the possibility that measures taken to mitigate this pandemic may lead to a substantial delay in the diagnosis of other non-COVID-19 related diseases.
Rola Nakhoul, Farid Nakhoul, Nakhoul Nakhoul: Autophagy in diabetic nephropathy: a review (Int Urol Nephrol .)
Diabetes mellitus (DM) is the leading cause of end stage renal disease. 40% of the patients worldwide will require replacement therapy after 20 years of DM worldwide. Early-stage diabetic nephropathy is characterized by hyperfiltration related to hypeglycemia-induced afferent artery vasodilatation with micro-and macroalbuminuria. Later on, proteinuria with arterial hypertension may appear, culminating in glomerular filtration rate (GFR) decline and end stage renal disease. Forty percent of diabetic patients develop microvascular and macrovascular complications, with increased risk among patients with genetic predisposition, such as Haptoglobin 2-2 phenotype. The most frequent complications in the daily clinical practice are diabetic kidney disease, diabetic retinopathy and vascular disease, such as coronary artery disease and stroke. Various pathways are involved in the pathogenesis of diabetic kidney disease. Chronic systemic inflammation and the inflammatory response, such as increased circulating cytokines (Interleukins), have been recognized as main players in the development and progression of diabetic kidney disease. DM is also associated with increased oxidative stress, and alterations in carbohydrate, lipid and protein metabolism. Overexpression of the renin-angiotensin-aldosterone system (RAAS) in the kidney, the vitamin D-Vitamin D receptor-klotho axis, and autophagy. Differences in the ATG5 protein levels or ATG5 gene expression involved in the autophagy process have been associated with diabetic complications such as diabetic kidney disease. Under normal blood glucose level, autophagy is an important protective mechanism in renal epithelial cells, including podocytes, proximal tubular, mesangial and endothelial cells. Down regulation of the autophagic mechanism, as in hyperglycemic condition, can contribute to the development and progression of diabetic kidney disease.
Milana Frenkel-Morgenstern: SCOR: A secure international informatics infrastructure to investigate COVID-19 (J Am Med Inform Assoc .)
Global pandemics call for large and diverse healthcare data to study various risk factors, treatment options, and disease progression patterns. Despite the enormous efforts of many large data consortium initiatives, scientific community still lacks a secure and privacy-preserving infrastructure to support auditable data sharing and facilitate automated and legally compliant federated analysis on an international scale. Existing health informatics systems do not incorporate the latest progress in modern security and federated machine learning algorithms, which are poised to offer solutions. An international group of passionate researchers came together with a joint mission to solve the problem with our finest models and tools. The SCOR Consortium has developed a ready-to-deploy secure infrastructure using world-class privacy and security technologies to reconcile the privacy/utility conflicts. We hope our effort will make a change and accelerate research in future pandemics with broad and diverse samples on an international scale.
Chaim Putterman: Quantitative planar array screen of 1000 proteins uncovers novel urinary protein biomarkers of lupus nephritis (Ann Rheum Dis .)
The goal of these studies is to discover novel urinary biomarkers of lupus nephritis (LN).
M Alcalay: Magnetic imaging defecography results are comparable to high-resolution manometry and conventional X-ray defecography in the assessment of functional pelvic floor disorders (Tech Coloproctol .)
X-ray defecography or magnetic resonance defecography (MRD) and high-resolution anorectal manometry (HR-ARM) are essential for the diagnosis of pelvic floor disorders (PFD). However, there is only scarce information available about the accuracy of MRD in the functional assessment of the pelvic floor. The aim of this study was to examine the accuracy of MRD in the diagnosis of pelvic floor disorders by examining the intra-test agreement with x-ray defecography and HR-ARM in patients with PFD.
Boris Fitchman, Yuval Salzberg, Amnon Harel: G 4 C 2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD (Neuron.)
Through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and accumulations of specific nuclear-pore-complex-associated proteins have been reported in multiple neurodegenerative diseases, including C9orf72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS/FTD). Using super-resolution structured illumination microscopy, we have explored the mechanism by which nucleoporins are altered in nuclei isolated from C9orf72 induced pluripotent stem-cell-derived neurons (iPSNs).
Talal Salti, Khaled Khazim, Rami Haddad: Glucose Induces IL-1α-Dependent Inflammation and Extracellular Matrix Proteins Expression and Deposition in Renal Tubular Epithelial Cells in Diabetic Kidney Disease (Front Immunol .)
Diabetes mellitus is linked with metabolic stress that induces cellular damage and can provoke renal inflammation and fibrotic responses that eventually lead to chronic kidney disease. Because the inflammasome, interleukin 1 (IL-1), IL-1α/IL-β, and IL-1R are central elements of kidney inflammation and pharmacological IL-1R antagonist (IL-1Ra) was shown to prevent or even reverse diabetic nephropathy (DN) in animal models, we explored the intrinsic expression of IL-1 molecules in kidney tissue of DN patients as regulators of renal inflammation. We used biopsies taken from DN patients and controls and show a high level of IL-1α expression in renal tubular epithelial cells, whereas both IL-1 agonistic molecules (i.e., IL-1α and IL-1β) were devoid of the glomeruli.
Gassan Moady, Daisy Shtern, Shaul Atar: The additive diagnostic value of heart-type fatty acid binding protein in patients presenting early with chest pain (Eur J Intern Med)
Acute myocardial infarction (AMI) is one of the most serious conditions encountered in the emergency room (ER), with outcomes that are highly affected by the time elapsed since symptoms onset. The diagnosis of AMI is currently based on clinical judgment, electrocardiogram (ECG), biomarkers, and in cases of uncertainty, imaging modalities. Currently, high-sensitivity troponin (hs-cTnI) is the recommended biomarker for early diagnosis of AMI. Among other putative biomarkers, heart-type fatty acid binding protein (H-FABP) has recently gained focus as a diagnostic and prognostic biomarker. In the current study, we evaluated the diagnostic accuracy of H-FABP and hs-cTnI for early (within three hours after symptom onset) diagnosis of AMI, separately and in combination. We hypothesized that multi-marker strategy using the two biomarkers in this setting may improve the triage of chest pain in the ER, and allow for safe early discharge of patients with no evidence of AMI.
Alon Barash: Rib Cage Anatomy in Homo Erectus Suggests a Recent Evolutionary Origin of Modern Human Body Shape (Nat Ecol Evol .)
The tall and narrow body shape of anatomically modern humans (Homo sapiens) evolved via changes in the thorax, pelvis and limbs. It is debated, however, whether these modifications first evolved together in African Homo erectus, or whether H. erectus had a more primitive body shape that was distinct from both the more ape-like Australopithecus species and H. sapiens. Here we present the first quantitative three-dimensional reconstruction of the thorax of the juvenile H. erectus skeleton, KNM-WT 15000, from Nariokotome, Kenya, along with its estimated adult rib cage, for comparison with H. sapiens and the Kebara 2 Neanderthal.
Nomy Dickman (et al). "6. Pretest Bias: Supporting Undergraduate Learning Through Guided Self-Assessment and Reflective Writing." Intervention Research in Educational Practice: Alternative Theoretical Frameworks and Application Problems (2020): 127.
Improving learning and teaching at schools or universities may start with choosing evidence-based interventions and practices, but does not end there. To ensure sustainable changes to programs in educational practice, interventions need to address complex issues related to theories, research designs, and measurements. This book presents typical but often overlooked problems in intervention research in educational practice. These problems are embedded in various educational areas such as, amongst others, school effectiveness, instructional design or motivational aspects of teacher trainings.
With contributions by
Hermann Astleitner, Josef Eisner, Ulrike Greiner, Franz Hofmann, Michaela Katstaller, Nomy Dickman, Gabriela Gniewosz, Stephanie Musow, Alexander NaumannJohnny S. Younis: An Exome-Wide Exploration of Cases of Primary Ovarian Insufficiency Uncovers Novel Sequence Variants and Candidate Genes (Clin Genet .)
Primary ovarian insufficiency (POI) implies the cessation of menstruation for several months in women before the age of 40 years and is a major cause of infertility. The study of the contribution of genetic factors to POI has been fueled by the use of whole exome sequencing (WES). Here, to uncover novel causative pathogenic variants and risk alleles, WES has been performed in 12 patients with familial POI (8 unrelated index cases and 2 couples of sisters) and 6 women with early menopause and family history of POI (4 index cases and 1 couple of sisters).
Dalit Porat Ben Amy, Akram Shalabi: Severe Chronic Nonlichenoid Oral Mucositis in Pembrolizumab-Treated Patients: New Cases and a Review of the Literature (Immunotherapy.)
Reports severe chronic oral mucositis (OM) in two pembrolizumab-treated cancer patients.
David Karasik: A Genome-Wide Scan for Pleiotropy Between Bone Mineral Density and Nonbone Phenotypes (Bone Res .)
Osteoporosis is the most common metabolic bone disorder globally and is characterized by skeletal fragility and microarchitectural deterioration. Genetic pleiotropy occurs when a single genetic element is associated with more than one phenotype. We aimed to identify pleiotropic loci associated with bone mineral density (BMD) and nonbone phenotypes in genome-wide association studies.
Lior Nissim, Mohammad E Naffaa, Ziv Paz: The Impact of Gender on the Clinical Presentation, Management, and Surgical Outcomes of Patients With Native-Joint Septic Arthritis (J Eval Clin Pract)
Approximately 20,000 cases of septic arthritis (SA) occur in the U.S. yearly. We examined whether gender-related differences exist in the presentation, management, and outcomes of patients with native joint septic arthritis (NJSA).
Alon Barash: Late Subadult Ontogeny and Adult Aging of the Human Thorax Reveals Divergent Growth Trajectories Between Sexes (Sci Rep.)
Sexual dimorphism is an important feature of adult thorax morphology, but when and how sex-related differences in the ribcage arise during ontogeny is poorly known. Previous research proposed that sex-related size differences in the nasal region arise during puberty. Therefore, we explore whether ribcage sexual dimorphism also arises at that time and whether this sexual dimorphism is maintained until old age.