חדשות המחקר

Pathogenic variants of the junctional adhesion molecule 3 (JAM3/JAM-C; OMIM#606871) is the cause of the rare recessive disorder called hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC, OMIM#613730) disease. A similar phenotype is universal, including congenital cataracts and brain hemorrhages with high mortality rate in the first few weeks of life and with a poor neurologic outcome in survivors. We aim to describe and enlighten novel phenotype and genotype of a new patient and review the literature regarding all reported patients worldwide.

(Tameemi Abdallah Moady, Marwan Odeh, Ayalla Fedida, Zvi Segal, Maayan Gruber, Moshe Goldfeld, Limor Kalfon, Tzipora C Falik-Zaccai)

Erratum for S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV).

Endoscopic ultrasound guided radiofrequency ablation (EUS-RFA) has been constantly increasing, particularly in the treatment of pancreatic neuroendocrine neoplasms (pNENs). While emerging data in this field are accumulating, we aimed to assess the pooled efficacy and safety of EUS-RFA for pNENs.

Endoscopic ultrasound-guided fine needle aspiration and biopsy (EUS-FNA, -FNB) are the mainstay for tissue diagnosis of pancreatic lesions. Traditionally, FNA was performed for obtaining cytology and also histology if available from the puncture. Since their advent, however, FNB needles have been intended mainly to obtain core biopsies for histological specimens. Aims: We aimed to assess the yield of cytology obtained via both FNA and FNB needles.

The long-term effects of surfactant administration via a thin catheter (minimally invasive surfactant therapy [MIST]) in preterm infants with respiratory distress syndrome remain to be definitively clarified. Objective: To examine the effect of MIST on death or neurodevelopmental disability (NDD) at 2 years' corrected age.

Quality of life is impaired in MDS, but the role of hemoglobin level is unclear. To study the Hb-QoL correlation at diagnosis and 1 year later, patients filled out the EQ-5D questionnaire, assessing their mobility, self care, daily activities, pain/discomfort, and anxiety/depression, using scores of 0 (normal), 1 (mild/moderate), or 2 (poor).

Investigates the effectiveness of a novel spectacle lens designed to slow the progression of myopia in children.

Corrigendum 

Autologous hematopoietic stem cell transplantation (AHSCT) has been shown to improve long-term survival for early diffuse progressive systemic sclerosis (SSc) compared with cyclophosphamide. Cyclophosphamide, however, does not provide a long-term benefit in SSc. The combination of mycophenolate mofetil (MMF) and rituximab is a potent alternative regimen. We aimed to retrospectively compare the outcomes of SSc patients who underwent AHSCT to patients who met the eligibility criteria for AHSCT but received upfront combination therapy with MMF and rituximab.

Type 2 diabetes (T2D) in youth is a global health concern characterized by an increasing incidence and prevalence, especially among disadvantaged socioeconomic subgroups. Moreover, youth-onset T2D is more aggressive and causes earlier, more severe long-term cardio-renal complications compared with T2D in adults. The therapeutic options available are limited and often inadequate, partially due to the numerous challenges in implementing clinical trials for this vulnerable patient population. Over the last few years, a significant effort has been made to develop new effective drugs for children and adolescents with T2D. Specifically, a number of studies are currently generating new data to address the urgent unmet medical need for optimal management of this disease. This review describes the central features of youth-onset T2D and summarizes the available treatments and ongoing studies in pediatric patients.

Type III secretion systems (T3SSs) are syringe-like protein complexes used by some of the most harmful bacterial pathogens to infect host cells. While the T3SS filament, a long hollow conduit that bridges between bacteria and host cells, has been characterized structurally, very little is known about its physical properties. These filaments should endure shear and normal stresses imposed by the viscous mucosal flow during infection within the intestinal tract. We used atomic force microscopy (AFM) to probe the longitudinal and radial mechanical response of individual T3SS filaments by pulling on filaments extending directly from bacterial surfaces and later pressing into filaments that were detached from the bacteria. The measured longitudinal elastic moduli were higher by about two orders of magnitude than the radial elastic moduli. These proportions are commensurate with the role of the T3SS filament, which requires horizontal flexibility while maintaining its structural integrity to withstand intense stresses during infection.

Cold-stored low-titer group O whole blood (LTOWB) has become increasingly utilised in both prehospital and in-hospital settings for resuscitation of traumatic haemorrhage. However, implementing the use of LTOWB to ground medical teams has been limited due to logistic challenges.

Methods: In 2022, the Israel Defense Forces (IDF) started using LTOWB in ambulances for the first time in Israel. This report details the initial experience of this rollout and presents a case-series of the first patients treated with LTOWB.

Letter to the editor

Colonoscopy is, indeed, a powerful diagnostic procedure, allowing direct visualization and sampling of the colonic and terminal ileal mucosa. Moreover, it has an excellent safety profile and—with the addition of sedation—is very well tolerated by patients. Not surprisingly, the demand for and the volume of colonoscopies is rising worldwide. Yet, as with any invasive procedure, an appropriate indication should be guaranteed before performing a colonoscopy. Major gastroenterology societies have issued guidelines on what are considered appropriate indications for colonoscopy, mainly for colorectal cancer (CRC) screening policies. Guidelines from the American society of gastrointestinal endoscopy (ASGE)¹ on the appropriate use of endoscopy state that colonoscopy is “generally indicated” for the evaluation of “unexplained hematochezia” without referring to age or to the presence of anorectal pathology. The guidelines recommended against performing colonoscopy for chronic stable abdominal pain.

Unfortunately, little data or guidance have been published concerning the appropriate use of colonoscopy in the young (<50 years of age).

Multiple treatment options and internal and external devices have been recommended for periprosthetic fractures management around total knee arthroplasty.

The availability of advanced technologies for mechanical support in hospitals with on-site cardiac surgery (CS), along with the ability to perform urgent coronary artery bypass graft (CABG) surgery, may result in improved clinical outcomes in patients with acute coronary syndrome (ACS).