חדשות המחקר

Congenital nephrotic syndrome (CNS) is a rare but serious condition which affects neonates and is caused by monogenic defects of glomerular structural proteins or congenital viral infections. Several reports have established a causal relationship between human cytomegalovirus (HCMV) intrauterine infection and CNS, but thorough study assessing parameters has not yet been done.

Tachycardia prior to endoscopic procedures is commonly encountered which reflect patient anxiety status. Despite this frequent occurrence, it is unclear if in a patient with tachycardia sedation dose should be modified. The aim of our study was to assess the effect of pre-endoscopic tachycardia on sedation dose. (Amir Mari, Tawfik Khoury, Anas Kadah, Helal Said Ahmad, Mahmud Mahamid, Wisam Sbeit)

This study shows chronic CP activation, mediated by cell-free IgG-aggregates, as the cause of decreased CP activity in part of the CLL population. The significance of the findings is in its potential effect on immunotherapy outcomes, due to the compromised CP activity and CDC. Measurements of C activity markers offer a tool for presizing the immunotherapy regiments in CLL. (Regina Michelis, Mona Shehadeh, Masad Barhoum, Andrei Braester)

The intestinal microbiota is one of the most rapidly evolving areas in biology and medicine. Extensive research in the last decade has escalated our understanding of the role of the microbiota in the pathogenesis of several intestinal and extra-intestinal disorders.In this review, we have outlined the results of the latest research on the association between microbiota and IBS and their implications for the clinical management of affected patients.

Studies by our group demonstrated brain-derived neurotrophic factor (BDNF) levels in blood and BDNF-Val66met-SNP as potential biomarkers in chemotherapy-induced peripheral neuropathy. Here, we evaluate symptoms of peripheral neuropathy (PN) and depression in patients with type II diabetes mellitus in search of an association with serum BDNF levels and the Val66Met-SNP. (With Sean Abed, Akram Sfadi, Ortal Sheleg, Ety Shaoul, Mona Shehadeh, Edward Kaykov, Marina Nodelman & Amir Bashkin)

Isolated populations with high rates of consanguinity and genetic disorders can be found in most parts of the world. The aim of our paper was to highlight the unique challenges faced in genetic counseling for such patients and to discuss the ways to facilitate the difficulties, with an emphasis on the crucial role of electronic medical records (EMR).

The 'First Thousand Days' refers to the period from conception to the child's second birthday. It is increasingly gaining traction as a concept to guide public health policy. It is seen as a crucial window of opportunity for interventions that improve child and population health. This review outlines the origin and growth of the First Thousand Days concept, and the evidence behind it, particularly in the areas of brain development and cognition; mental and emotional health; nutrition and obesity; programming and economic benefits. The review then describes UK experience of use of the concept to inform policy, and a recent government inquiry that mandates more widespread implementation.

Sepsis, a leading cause of morbidity and mortality worldwide, characterized by metabolic and hemodynamic changes that can lead to multi-organ failure, and death. The evaluation of a patient's condition is routinely performed by several objective criteria. The compensatory reserve measurement (CRM) represents a new paradigm that measures the total of all physiological compensatory mechanisms, using noninvasive photoplethysmography to read changes in arterial waveforms. The present study aim was to evaluate the applicability and the predictive value of the CRM during sepsis

Accommodating a patient's treatment preference has been reported to promote greater responsiveness and better clinical outcomes. The effect of administration route preference (ARP) on the individual analgesic response has not been extensively examined to date. This study aimed to investigate whether ARP-matched treatment, i.e., individualized intramuscular (IM) or oral (PO) analgesic administration according to patient choice, would increase the analgesic effect.

Neuropsychiatric symptoms of systemic lupus erythematosus (NP-SLE) affect over one-half of SLE patients, yet underlying mechanisms remain largely unknown. We demonstrate that SLE-prone mice (CReCOM) develop NP-SLE, including behavioral deficits prior to systemic autoimmunity, reduced brain volumes, decreased vascular integrity, and brain-infiltrating leukocytes. NP-SLE microglia exhibit numerical expansion, increased synaptic uptake, and a more metabolically active phenotype.

E3 ubiquitin ligases (E3s) play essential roles in the maintenance of tissue homeostasis under normal and stress conditions, as well as in disease states, particularly in cancer. However, the role of E3s in the initiation of human tumors is poorly understood. Previously, we reported that genetic ablation of the HECT-type E3 ubiquitin ligase Smurf2 induces carcinogenesis in mice; but whether and how these findings are pertinent to the inception of human cancer remain unknown. Here we show that SMURF2 is essential to protect human dermal fibroblasts (HDFs) from malignant transformation, and its depletion converts HDFs into tumorigenic entity.

The aim of this study is to evaluate the predictive value of neutrophil-to-lymphocyte ratio (NLR), mean platelet volume (MPV), and red blood cell distribution width (RDW) for microalbuminuria in type 2 diabetic patients for possible application as prognostic factors for the prediction of microalbuminuria and the progression of disease in patients with diabetes. (Tikva Assulyn, Rola Khamisy‐Farah, William Nseir, Amir Bashkin, Raymond Farah)

Multiple sclerosis (MS) is a multifactorial disease of the central nervous system in young adults. Mitochondrial respiration provides fuel necessary for cellular function and is especially important in cells with large energy demand including neurons. Various studies suggest that the pathogenesis of MS may be associated with mitochondrial dysfunction. Results obtained here show that mitochondrial activity was significantly lower in MS patients in comparison to healthy controls. In addition, there was a significant difference in mitochondrial activity depending on MS degree of disability. These initial findings in a peripheral examination hold potential for new diagnostic biomarkers to be considered in the future.

Sarcopenia is a skeletal muscle disease of clinical importance that occurs commonly in old age and in various disease sub-categories. Widening the scope of knowledge of the genetics of muscle mass and strength is important because it may allow to identify patients with an increased risk to develop a specific musculoskeletal disease or condition such as sarcopenia based on genetic markers.

Assesses the prevalence of thyroid dysfunction among patients with Autoimmune hepatitis (AIH).(T. Khoury, A. Kadah, A. Mari, W. Sbeit, M. Mahamid)