חדשות המחקר

Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder characterized by multiple juvenile polyps in the gastrointestinal tract, often associated with mutations in genes such as Smad4 and BMPR1A. This study explores the impact of Smad4 knock-out on the development of intestinal polyps using collaborative cross (CC) mice, a genetically diverse model.

According to current guidelines, systemic or topical corticosteroids are recommended as first-line treatments for bullous pemphigoid (BP). There is evidence suggesting that topical application may be associated with a lower risk of mortality. However, there is a lack of comprehensive large-scale data comparing mortality rates, as well as the risk of major adverse cardiac events (MACE), infections, and relapse, between systemic and topical corticosteroid treatments.

The COVID-19 pandemic highlighted the necessity of fast, sensitive, and efficient methods to test large populations for respiratory viruses. The "gold standard" molecular assays for detecting respiratory viruses, such as quantitative polymerase chain reaction (qPCR) and reverse transcription qPCR (RT-qPCR), rely on invasive swab samples and require time-consuming and labor-intensive extraction processes. Moreover, the turnaround time for RT-qPCR-based assays is too lengthy for rapid screening. Extraction-free saliva-based methods provide a non-invasive sampling process with a fast turnaround time and are suitable for high-throughput applications. However, when used with a standard RT-qPCR system, the absence of extraction significantly reduces the assays' sensitivity. Here, using a novel optical modulation biosensing (OMB) platform, we developed a rapid and highly sensitive extraction-free saliva-based molecular assay.

Pyoderma gangrenosum (PG) is a rare chronic ulcerating skin disorder with an immunological pathomemchanistic basis. As with other neutrophilic dermatoses, PG usually has an associated disorder, mainly Inflammatory bowel disease, arthritis and haematological malignancies. Immune-mediated rheumatic diseases (IMRD) are defined as a group of acquired diseases resulting from persistent immune-mediated inflammation. These autoantibodies or autoreactive T cells can attack any organ of the body, leading to a wide array of signs and symptoms. This disease group consists of several potentially devastating conditions such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), psoriatic arthritis (PsA), Sjögren syndrome and dermatomyositis.

Several case reports have pointed to the coexistence of PG and IMRD in individual patients. While the association of PG with RA is robust, our knowledge about the potential of SLE, SSc and PsA to trigger PG is very sparse. The current study sought to investigate the bidirectional association between PG and IMRD.

Late follicular premature progesterone rise is a complex phenomenon encountered during assisted reproductive technology (ART) treatments; different etiologies can occur in the same patient. Low ovarian responders may be the best example, since higher FSH doses and ovarian aging-related changes may interact and generate a premature progesterone rise. This study aims to explore the correlation between progesterone levels on hCG day and the progesterone-to-follicle index and compare the progesterone-to-follicle index according to ovarian response.

Patients with FLT3-mutated acute myeloid leukaemia (AML) that relapse or are refractory (R/R) to intensive induction have poor outcomes. Gilteritinib has recently become standard-of-care for patients with R/R FLT3-mutated AML. We investigated whether adding venetoclax to gilteritinib (gilt-ven) improves outcomes as compared with gilteritinib monotherapy. 

Flow-cytometry (FC) is a powerful tool that can assist in lymphoma diagnosis in lymph node (LN) specimens. Although lymphoma diagnosis and classification are mainly based on tumor cell characteristics, surrounding cells are less employed in this process. We retrospectively investigated alterations in the ploidy status, proliferative cell fraction (PF) and the percentages of surrounding immune cells in 62 consecutive LN specimens with B-Cell Non-Hodgkin Lymphoma (B-NHL) that were submitted for FC evaluation between 2019-2022. 

(David Azoulay, Tal Tapuchi, Ohad Ronen, Luiza Akria , Hector I Cohen, Celia Surio, Svetlana Rodin Chepa, Elizabeth Eshel, Moran Zarfati, Galia Stemer)

Our knowledge about the association between vitiligo and Parkinson's disease (PD) is sparse. We sought to investigate the bidirectional epidemiological association between vitiligo and PD.

The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Information regarding the safety and efficacy of specific direct oral anticoagulants (DOAC) in the treatment of cerebral sinus and venous thrombosis (CSVT) is scarce. Apixaban is one of the most frequently prescribed DOACs. Therefore, we aimed to compare the safety and efficacy of Apixaban with those of vitamin k antagonists (VKA) in patients with CSVT.

The hamstring tendon (HT) autograft is currently the most widely utilised autograft option for anterior cruciate ligament (ACL) reconstruction. However, recent studies endorse the peroneus longus tendon (PLT) autograft as a viable alternative. To evaluate this, we systematically reviewed randomised controlled trials (RCTs) to compare the efficacy of PLT against HT autografts. 

The Galilee region of Israel boasts a rich ethnic diversity within its Arab population, encompassing distinct Muslim, Christian, Druze, and Bedouin communities. This preliminary exploratory study uniquely examined potential ethnic and gender differences in ischemic stroke characteristics across these Arab subgroups, which are seldom investigated separately in Israel and are typically studied as a homogeneous "Arab" sector, despite significant variations in their ethnicity, culture, customs, and genetics. 

Many scoring systems, algorithms, and guidelines have been developed to aid in the evaluation and diagnosis of acute appendicitis (AA). Many of these algorithms advocate against the routine use of radiological investigations when there is a high clinical suspicion of AA. However, there has been a significant rise in the use of imaging techniques for diagnosing AA in the past two decades. This is a national study aimed at assessing the adherence of residents assigned to the emergency department to the clinical guidelines for diagnosing AA.

Assesses a possible association between marked proteinuria and the risk of preeclampsia with severe features, as defined by the American College of Obstetricians and Gynecologists.

Non-small cell lung cancer (NSCLC) is the most common pulmonary malignancy, frequently diagnosed at an advanced stage (III/IV). Patients in the Locally Advanced Stage Subgroup (IIIA) are relatively few, yet compose heterogenic phenotypes, posing a diagnostic and treating challenge, leading to a lack of clinical guidelines regarding the optimal standard of care. Several approaches exist, with a general agreement that a combined oncological and surgical modality approach is required. In this current retrospective descriptive study, patients with operable stage IIIA NSCLC who underwent surgery between 2013 and 2020 were evaluated on several aspects, including the initial diagnosis, neoadjuvant regimens, outcomes of surgical intervention, and overall survival at 2 years and 5 years following treatment.