Olfactory function in Susac syndrome.

Objectives: Susac syndrome is a rare autoimmune endotheliopathy involving the brain, retina, and inner ear. Olfactory dysfunction is a common early manifestation of several central nervous system diseases, including neurodegenerative diseases and autoimmune-mediated diseases such as Multiple Sclerosis. While the literature is abundant about the Susac syndrome classic triad of encephalopathy, branch retinal artery occlusion, and low-frequency sensorineural hearing loss, little is known about the extent of olfactory sense involvement.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants.

Real-Life Diagnostic Performance of the Hypersensitivity Pneumonitis Guidelines: A Multicenter Cohort Study.

Hypersensitivity pneumonitis (HP) is a heterogeneous interstitial lung disease (ILD) that may be difficult to confidently diagnose. Recently, the 2020 ATS/JRS/ALAT HP diagnostic guidelines were published, yet data validating their performance in real-life settings are scarce. We aimed to assess the diagnostic performance of the HP guidelines compared to the gold-standard multidisciplinary discussion (MDD).

Assessing Change in Exudative Age-Related Macular Degeneration With Macular Thickness Maps as a Surrogate Strategy for Remote Patient Monitoring.

Purpose: To determine if macular thickness maps (MTMs) are sufficient to guide management of eyes with exudative age-related macular degeneration (eAMD), we compared the ability to detect change using MTMs with the ability to detect change using the entire optical coherence tomography (OCT) scan in patients undergoing therapy.

Design: Retrospective, comparative diagnostic analysis.

Methods: Patients with eAMD were imaged using macula-centered 6 × 6-mm OCT scans (CIRRUS HD-OCT 5000; Zeiss).

Virtual reality and 3D printing in clinical anesthesia: a case series of two years' experience in a single tertiary medical centre.

Purpose: Anatomically correct patient-specific models made from medical imaging can be printed on a three-dimensional (3D) printer or turned into a virtual reality (VR) program. Until recently, use in anesthesia has been limited. In 2019, the anesthesia department at Tel Aviv Medical Center launched a 3D program with the aim of using 3D modelling to assist in preoperative anesthesia planning.

Healthcare utilization, costs, and epidemiology of Huntington's disease in Israel.

Introduction: Data on Huntington's disease (HD) epidemiology, treatment patterns, and economic burden in Israel are scarce.

Methods: Annual prevalence and incidence of HD (ICD-9-CM 333.4) were assessed in the Israel-based Maccabi Healthcare Services (MHS) database 2016-2018.

Bifocal avulsion fracture and fixation of the patellar tendon: a case report.

Acute distal patella tendon avulsion from the tibial tubercle (TT) is a relatively rare injury that is usually described in the adolescents or elderly population in their 7 or 8 decades. Bifocal avulsion fractures of the patella tendon from the TT and the distal pole of the patella are exceptionally rare in adults. In this case report, we present a 52-year-old healthy old male who was treated for bifocal avulsion of the patellar tendon with open reduction and internal fixation augmented with two ULTRATAPE sutures.

Maternal Immunization During the Second Trimester with BNT162b2 mRNA Vaccine Induces a Robust IgA Response in Human Milk: A Prospective Cohort Study.

Background: The human milk antibody response following maternal immunization with the BNT162b2 mRNA vaccine is important for the protection of the infant during infancy. The vaccine-specific antibody response is still unclear at different stages of human milk production, as are the effects of maternal immunization timing on the robustness of the antibody response.

Objectives: The study aimed to assess the antibody response (IgG/IgA/IgM) during various lactation stages and identify the best vaccination timing during pregnancy.

Left atrium volume and ventricular volume ratio algorithm as indication of pulmonary hypertension etiology.

Background: Pressure overload of the right heart (pulmonary hypertension [PH]) can be an acute or a chronic process with various pathophysiologic changes affecting the dimensions of the heart chambers. The automatic four-chamber volumetric analysis tool is now available to measure the volume of the cardiac chambers in patients undergoing a computed tomography pulmonary angiogram (CTPA).

Purpose: To characterize the volumetric changes that occurred in response to increased systolic pulmonary arterial pressures (sPAP) in acute events, such as acute pulmonary embolism (APE), compared with other etiologies.

Practical recommendations on treatment of multiple sclerosis with Cladribine: an Israeli Experts Group‏ Viewpoint.

Cladribine tablets (Mavenclad) were approved by the European Union in 2017 as high-efficacy therapy for highly active relapsing-remitting multiple sclerosis. In Israel, Mavenclad was approved in 2018. Real-life experience has confirmed the efficacy of cladribine tablets over at least 4 years from the initial course.

Pearls and pitfalls of PROMIS clinically significant outcomes in orthopaedic surgery.

Introduction: Patient-Reported Outcome Measurement Information System (PROMIS) was developed as a uniform and generalizable PROM system using item response theory and computer adaptive testing. We aimed to assess the utilization of PROMIS for clinically significant outcomes (CSOs) measurements and provide insights into its use in orthopaedic research.

Materials And Methods: We reviewed PROMIS CSO reports for orthopaedic procedures via PubMed, Cochrane Library, Embase, CINAHL, and Web of Science from inception to 2022, excluding abstracts and missing measurements.

A tailored phase I-specific patient-reported outcome (PRO) survey to capture the patient experience of symptomatic adverse events.

Background: Patient perspectives are fundamental to defining tolerability of investigational anti-neoplastic therapies in clinical trials. Phase I trials present a unique challenge in designing tools for efficiently collecting patient-reported outcomes (PROs) given the difficulty of anticipating adverse events of relevance. However, phase I trials also offer an opportunity for investigators to optimize drug dosing based on tolerability for future larger-scale trials and in eventual clinical practice.

Perspective on the current state of the LRRK2 field.

Almost 2 decades after linking LRRK2 to Parkinson's disease, a vibrant research field has developed around the study of this gene and its protein product. Recent studies have begun to elucidate molecular structures of LRRK2 and its complexes, and our understanding of LRRK2 has continued to grow, affirming decisions made years ago to therapeutically target this enzyme for PD. Markers of LRRK2 activity, with potential to monitor disease progression or treatment efficacy, are also under development.

The "Selfie Test": A Novel Test for the Diagnosis of Lateral Epicondylitis.

: Lateral epicondylitis (LE) is one of the most diagnosed elbow pathologies. The purpose of this study was to determine the diagnostic test accuracy of a new test (selfie test) for the diagnosis of LE. : Medical data were collected from adult patients who presented with LE symptoms and ultrasound findings that supported the diagnosis.

The long-term clinical course of moderate tricuspid regurgitation.

Background: To evaluate the long-term clinical outcome of a cohort of patients suffering from moderate tricuspid regurgitation (TR), regardless of its etiology.

Methods: Clinical and echocardiographic follow-up were assessed in 250 patients diagnosed with moderate TR between January 2016 and July 2020. TR progression at follow-up was defined as TR grade increase to at least severe.

The EnPlace sacrospinous ligament fixation-A novel minimally invasive transvaginal procedure for apical pelvic organ prolapse repair: Safety and short-term outcome results.

Objective: The EnPlace device is a novel minimally invasive tool allowing transvaginal sacrospinous ligament (SSL) fixation of apical pelvic organ prolapse (POP). The study aimed to investigate the safety and short-term efficacy of the EnPlace SSL fixation for significant apical POP repair.

Methods: A retrospective cohort study of 123 consecutive patients (mean age 64.

Early signaling of bacteremia in patients who present to the department of emergency medicine with relatively low C-reactive protein (CRP) concentrations.

Objectives: Examiningthe usefulness of C-reactive protein velocity (CRPv) as an early biomarker for the presence of bacteraemia in patients presenting to the Department of Emergency Medicine with acute infection/inflammation and suspected bacteraemia.

Methods: A retrospective study examining a cohort of patients who presented to the E.R and in whom blood cultures were taken.

International Genetic Testing and Counseling Practices for Parkinson's Disease.

Background: There is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing.

Objectives: The aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations.

Methods: A web-based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership.

Salvage Therapy in Acute Severe Ulcerative Colitis: Current Practice and a Look to the Future.

The risk of urgent bowel resection increases significantly among patients hospitalized with acute severe ulcerative colitis. In-hospital management requires quick diagnostic, therapeutic, and decision-making, combined with a multi-disciplinary approach and accessibility to multiple therapeutic options. However, the optimal strategy is still debatable.

Curcumin-QingDai Combination for Patients With Active Ulcerative Colitis: A Randomized, Double-Blinded, Placebo-Controlled Trial.

Background & Aims: We evaluated the efficacy of herbal combination of curcumin-QingDai (CurQD) in active ulcerative colitis (UC).

Methods: Part I was an open-label trial of CurQD in patients with active UC, defined by a Simple Clinical Colitis Activity Index score of 5 or higher and a Mayo endoscopic subscore of 2 or higher. Part II was a placebo-controlled trial conducted in Israel and Greece, randomizing active UC patients at a 2:1 ratio to enteric-coated CurQD 3 g/d or placebo for 8 weeks.