Recent Publications

The clinical characteristics of symptomatic and asymptomatic carriers of early-onset autosomal dominant Alzheimer's (EOADAD) due to a yet-undescribed chromosomal rearrangement may add to the available body of knowledge about Alzheimer's disease and may enlighten novel and modifier genes. We report the clinical and genetic characteristics of asymptomatic and symptomatic individuals carrying a novel APP duplication rearrangement.

(Limor Kalfon, Hadas Raveh-Barak, Nadra Samra, Natalia Chasnyk, Nehama Cohen Kfir, Nissreen Kinaani Mousa, Efrat Shuster Biton, Mary Tanus, Tzipora C Falik Zaccai)

Isotretinoin-related risk of depression and suicidal behavior is a topic of inconclusiveness. A crucial knowledge gap exists in defining the association of isotretinoin with other psychiatric comorbidities. Objective: To evaluate the risk of psychiatric outcomes among patients with acne treated with isotretinoin versus oral antibiotics.

Type 2 diabetes mellitus (T2DM), especially hyperglycemia, is associated with increased glucose cell toxicity and oxidative stress that can lead to irreversible damage in the kidney such as diabetic nephropathy (DN). Autophagy plays a key role in the degradation of damaged intracellular proteins in order to maintain intracellular homeostasis and cell integrity. The disturbance of autophagy is involved in the pathogenesis of diabetic nephropathy. We aim to investigate the molecular effect of sodium-glucose transporter 2 inhibitor (SGLT2i) on the expression of ATG5 and its downstream collaborator LC3-II in diabetic mice model. 

Cohesin, a structural maintenance of chromosome (SMC) complex, organizes chromatin into three-dimensional structures by threading chromatin into loops and stabilizing long-range chromatin interactions.... An ongoing debate about cohesin's mechanism of action regards its stoichiometry....We briefly review the history of the argument about cohesin stoichiometry and the central evidence for cohesin activity as a monomer vs. an oligomer. Finally, we discuss the possible biological significance of cohesin oligomerization and present open questions that remain to be answered.

Based on worldwide registries, approximately 50% of patients who underwent transcatheter aortic valve replacement (TAVR) are female patients. Although TAVR procedures have improved tremendously in recent years, differences in outcome including mortality between sexes remain. We aimed to investigate the trends in TAVR in the early and new eras of utilization and to assess TAVR outcomes in female patients vs. male patients.

Dissemination of cancer cells from the primary tumor into distant body tissues and organs is the leading cause of death in cancer patients. While most clinical strategies aim to reduce or impede the growth of the primary tumor, no treatment to eradicate metastatic cancer exists at present. Metastasis is mediated by feet-like cytoskeletal structures called invadopodia which allow cells to penetrate through the basement membrane and intravasate into blood vessels during their spread to distant tissues and organs. The non-receptor tyrosine kinase Pyk2 is highly expressed in breast cancer, where it mediates invadopodia formation and function via interaction with the actin-nucleation-promoting factor cortactin. Here, we designed a cell-permeable peptide inhibitor that contains the second proline-rich region (PRR2) sequence of Pyk2, which binds to the SH3 domain of cortactin and inhibits the interaction between Pyk2 and cortactin in invadopodia.

Erratum here https://pubmed.ncbi.nlm.nih.gov/36494432/

Gastro-oesophageal reflux disease (GORD) after one anastomosis gastric bypass (OAGB) remains a concern. We reviewed the current literature on revisional surgery after OAGB for GORD.

During mitosis, chromatin is condensed and organized into mitotic chromosomes. Condensation is critical for genome stability and dynamics, yet the degree of condensation is significantly different between multicellular and single-cell eukaryotes. What is less clear is whether there is a minimum degree of chromosome condensation in unicellular eukaryotes. Here, we exploited two-photon microscopy to analyze chromatin condensation in live and fixed cells, enabling studies of some organisms that are not readily amenable to genetic modification.

The prevalence of women diagnosed with gestational diabetes mellitus (GDM) is increasing dramatically. Mobile technologies to enhance patient self-management offer many advantages for women diagnosed with GDM. However, to our knowledge, although mobile health (mHealth) and telemedicine systems for GDM management exist, evidence on their cultural and digital health literacy appropriateness levels is limited. Objective: This review aimed to search and assess the literature on mHealth and telemedicine systems designed for women diagnosed with GDM. Our assessment of these technologies focused on their cultural and digital health literacy appropriateness as well as the systems' effectiveness in improving glycemic control and maternal and infant outcomes.

Epidermolysis bullosa acquisita (EBA) is a subepidermal autoimmune bullous disease caused by autoantibodies targeting type VII collagen (COL7). It is characterized by inflammation and subepidermal blistering mainly through immune complex (IC)-mediated activation of neutrophils. In experimental EBA, binding of neutrophils to ICs in the skin and induction of clinical disease depends on the expression of the Fc gamma receptor (FcγR) IV. As activating FcγR mediate both neutrophil extravasation and activation, we used multiphoton imaging to obtain further insights into the mechanistic contribution of FcγRIV in the pathogenesis of EBA. 

While the coexistence of vitiligo and Crohn's disease (CD) has been reported in individual patients, the epidemiological association between these autoimmune conditions remains inconclusive. Objective: To assess the bidirectional association between vitiligo and CD.

Cutaneous sarcoidosis is a relatively rare disease whose clinical manifestations include red-brown macules, plaques, papules and subcutaneous nodules. The skin changes may also be restricted to pre-existing scars. Cutaneous sarcoidosis can be associated with systemic organ involvement. Objectives: Aim of this retrospective study was to longitudinally investigate clinical and laboratory findings in patients with cutaneous sarcoidosis.

 People infected with SARS-CoV-2 may develop COVID-19 in a wide range of clinical severity. Pulmonary fibrosis is characterized by several grades of chronic inflammation and collagen deposition in the interalveolar space. SARS-CoV-2 infection has been demonstrated to cause lung fibrosis without a currently elucidated mechanism. Some studies emphasize the role of proinflammatory cytokines. This research studies the correlation of the released cytokines with mortality or lung injury in COVID-19 patients.

(Maamoun Basheer, Elias Saad, Majd Kananeh, Layyous Asad, Osama Khayat, Anan Badarne, Zaki Abdo, Nada Arraf, Faris Milhem, Tamara Bassal, Mariana Boulos, Nimer Assy)

The incidence of blast injuries on the battlefield has risen over the last several decades. In order to improve prevention and treatment, it is essential to understand the severity and bodily distribution of these injuries. This study aims to characterize blast injury patterns among IDF fatalities.

Industrial complex (IC) residence is associated with higher cancer incidence in adults and children. However, the effect on young adults and the residence duration are not well described. Since the beginning of the 20th century, the Haifa bay area (HBA) has a major IC area with petrochemical industry complex and many other industries. The objectives of the current study were to estimate the association between IC residence and cancer incidence and to evaluate the effect of the residence duration.