חדשות המחקר

RBL2/p130, a member of the retinoblastoma family of proteins, is a key regulator of cell division and propagates irreversible senescence. RBL2/p130 is also involved in neuronal differentiation and survival, and eliminating Rbl2 in certain mouse strains leads to embryonic lethality accompanied by an abnormal central nervous system (CNS) phenotype. Conflicting reports exist regarding a role of RBL2/p130 in transcriptional regulation of DNA methyltransferases (DNMTs), as well as the control of telomere length. Here we describe the phenotype of three patients carrying bi-allelic RBL2-truncating variants. All presented with infantile hypotonia, severe developmental delay and microcephaly.

[Graphic: By Emw - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=8821282]

The inherent variability in performing specific surgical procedures for head and neck cancer remains a barrier for accurately assessing treatment outcomes, particularly in clinical trials. While non-surgical modalities for cancer therapeutics have evolved to become far more uniform, there remains the challenge to standardize surgery. The purpose of this review is to identify the barriers in achieving uniformity and to highlight efforts by surgical groups to standardize selected operations and nomenclature. 

Tremendous scientific and technological achievements have been revolutionizing the current medical era, changing the way in which physicians practice their profession and deliver healthcare provisions. This is due to the convergence of various advancements related to digitalization and the use of information and communication technologies (ICTs)-ranging from the internet of things (IoT) and the internet of medical things (IoMT) to the fields of robotics, virtual and augmented reality, and massively parallel and cloud computing....The present review aims to show how big and smart data can revolutionize gynecology by shedding light on female reproductive health, both in terms of physiology and pathophysiology.

Dominant stricture (DS) is a main cause of complication among patients with Primary Sclerosing Cholangitis (PSC). Endoscopic treatment options include dilation and plastic stenting, each with its own benefits and drawbacks. The aim of the current study is to assess the safety and efficacy of fully-covered metal stent (FCMS) in these patients.

Cost-effectiveness comparison between endoscopic ultrasound (EUS)-guided acquisition techniques by fine-needle aspiration (FNA) and fine needle biopsy (FNB) in gastrointestinal lesions is still scarce. EUS-FNB has been shown to be more cost-effective than EUS-FNA, however, when adding rapid on-site evaluation (ROSE) to EUS-FNA, it is unclear whether EUS-FNB remains more cost-effective. Our aim was to assess cost-efficacy of EUS-FNB as compared to EUS-FNA with ROSE in gastrointestinal lesions.

Social media is part of modern life, for better or worse. Patients seek counsel on treatments, their side-effects, and the surgeon performing the surgery. Previous study has found several "dos" and "don'ts" regarding social media. The aim of this study was to specifically look for social media posts addressing breast augmentation, breast implants, and breast implant associated anaplastic large cell lymphoma (BIA-ALCL).The aims of this study were to examine social media posting regarding BIA-ALCL and to analyze the ways general public receive information regarding this disease.

In this large population-based study we aimed to assess:(1)mortality in ankylosing-spondylitis(AS) patients compared to the general population. Considering demographics, comorbidities and treatment.(2) factors associated with mortality within AS patients.

As a follow up to a 2010 meeting deliberating on the benefits of studying mouse models of systemic lupus erythematosus (SLE), the virtual conference “Mouse models of lupus 10 years later” convened on 10 December 2020 to address a challenging decade that saw few new therapies approved, despite leaps in knowledge.

Elevated plasma homocysteine has been found to be associated with an increased risk of osteoporosis, especially hip and vertebral fractures. The plasma concentration of homocysteine is dependent on the activities of several B vitamin-dependent enzymes, such as methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and cystathionine β-synthase (CBS).

We investigated whether genetic variants in some of the genes involved in 1 carbon metabolism modify the association of B vitamin-related measures with bone mineral density (BMD) and strength.

Vaccine hesitancy is a global health threat which may hinder the widespread acceptance of several COVID-19 vaccines. Following the collection of 2470 responses from an anonymous questionnaire distributed between October and November 2020 across Israel, we analyzed the responses of physicians, life science graduates (biology, virology, chemistry, etc.), and the general public to whether they would obtain a COVID-19 vaccine with particular vaccine characteristics such as vaccine country of origin, technology, side effect profile, efficacy, and other attributes. 

Eur J Epidemiol

 Evidence of diastolic dysfunction (DD) required for the diagnosis of heart failure with preserved ejection fraction (HFpEF) is elusive in atrial fibrillation (AF). Left ventricular (LV) and left atrial (LA) speckle-tracking echocardiography (STE) may provide rhythm independent indications of DD. We aimed to find common LV/LA myocardial mechanics parameters to demonstrate DD, using STE in patients with AF. (Assaf Ben-Arzi, Evgeni Hazanov, Diab Ghanim, Guy Rozen, Ibrahim Marai, Liza Grosman-Rimon, Erez Kachel, Offer Amir, Shemy Carasso)

Genome-wide association studies (GWAS) have improved our understanding of the genetic architecture of common, complex diseases such as osteoporosis. Nevertheless, to attribute functional skeletal contributions of candidate genes to osteoporosis-related traits there is a need for efficient and cost-effective in vivo functional testing. This can be achieved through CRISPR-based reverse genetic screens, where phenotyping is traditionally performed in stable germline KO mutants. Recently it was shown that first-generation (F0) mosaic mutant zebrafish (so-called crispants) recapitulate the phenotype of germline KOs. To demonstrate feasibility of functional validation of osteoporosis candidate genes through crispant screening, we compared a crispant to a stable KO zebrafish model for the lrp5 gene. 

This study aimed to assess the ability of a voice analysis application to discriminate between wet and dry states in chronic heart failure (CHF) patients undergoing regular scheduled haemodialysis treatment due to volume overload as a result of their chronic renal failure.

Original article: https://link.springer.com/article/10.1007%2Fs12017-021-08651-5

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