Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study

ObjectiveTo determine genealogical, clinical and pathological characteristics of a cohort with Cys618Arg mutation from an Israeli multicenter MTC study.MethodsRetrospective database analysis examining RET mutations and comparing Cys618Arg and Cys634Arg/Thr/Tyr subgroups.ResultsGenetic testing was performed in 131/275 MTC patients (47.6%). RET mutations were found in 50/131 (38.2%), including Cys618Arg (28/50 cases,56%), and Cys634Arg/Thr/Tyr (15/50,30%). Through genealogical study, 31 MTC patients were found descendants of one family of Jewish Moroccan descent, accounting for 27/28 patients with documented Cys618Arg mutation and 4 patients without available genetic testing. Familial Cys618Arg cases (n=31) and Cys634Arg/Thr/Tyr cases (n=15, from 6 families) were compared. Although surgical age was similar (25.7 vs 31.3 years, p=0.19), the Cys618Arg group had smaller tumors (8.9mm vs 18.5mm, p=0.004) and lower calcitonin levels (33.9 vs 84.5 X/ULN, p=0.03). Youngest ages at MTC diagnosis were 8 and 3 years in Cys618Arg and Cys634Arg/Thr/Tyr cohorts, respectively. Long-term outcome was similar between groups. The Cys618Arg cohort had lower rates of pheochromocytoma (6.5% vs 53.3%, p=0.001) and primary hyperparathyroidism (3.2% vs 33.3%, p=0.01).ConclusionThis is the first description of RET mutation distribution in Israel. Of 131 tested MTC patients, Cys618Arg was the predominant mutation. To the best of our knowledge, this is the largest cohort of Cys618Arg mutation described. For Cys618Arg and Cys634Arg/Thr/Tyr cohorts, MTC was diagnosed earlier than expected, likely due to familial genetic screening, and MTC outcomes were similar between groups. International studies are necessary to further characterize the clinical features of Cys618 mutations due to their relative rarity

Pilates exercise training vs. physical therapy for improving walking and balance in people with multiple sclerosis: a randomized controlled trial

Objective: Evaluate the effects of a Pilates exercise programme on walking and balance in people with multiple sclerosis and compare this exercise approach to conventional physical therapy sessions. Design: Randomized controlled trial. Setting: Multiple Sclerosis Center, Sheba Medical Center, Tel-Hashomer, Israel. Subjects: Forty-five people with multiple sclerosis, 29 females, mean age (SD) was 43.2 (11.6) years; mean Expanded Disability Status Scale (S.D) was 4.3 (1.3). Interventions: Participants received 12 weekly training sessions of either Pilates (n=22) or standardized physical therapy (n=23) in an outpatient basis. Main measures: Spatio-temporal parameters of walking and posturography parameters during static stance. Functional tests included the Time Up and Go Test, 2 and 6-minute walk test, Functional Reach Test, Berg Balance Scale and the Four Square Step Test. In addition, the following self-report forms included the Multiple Sclerosis Walking Scale and Modified Fatigue Impact Scale. Results: At the termination, both groups had significantly increased their walking speed (P=0.021) and mean step length (P=0.023). According to the 2-minute and 6-minute walking tests, both groups at the end of the intervention program had increased their walking speed. Mean (SD) increase in the Pilates and physical therapy groups were 39.1 (78.3) and 25.3 (67.2) meters, respectively. There was no effect of group X time in all instrumented and clinical balance and gait measures. Conclusions: Pilates is a possible treatment option for people with multiple sclerosis in order to improve their walking and balance capabilities. However, this approach does not have any significant advantage over standardized physical therapy

Pilates exercise training vs. physical therapy for improving walking and balance in people with multiple sclerosis: a randomized controlled trial

Objective: Evaluate the effects of a Pilates exercise programme on walking and balance in people with multiple sclerosis and compare this exercise approach to conventional physical therapy sessions. Design: Randomized controlled trial. Setting: Multiple Sclerosis Center, Sheba Medical Center, Tel-Hashomer, Israel. Subjects: Forty-five people with multiple sclerosis, 29 females, mean age (SD) was 43.2 (11.6) years; mean Expanded Disability Status Scale (S.D) was 4.3 (1.3). Interventions: Participants received 12 weekly training sessions of either Pilates (n=22) or standardized physical therapy (n=23) in an outpatient basis. Main measures: Spatio-temporal parameters of walking and posturography parameters during static stance. Functional tests included the Time Up and Go Test, 2 and 6-minute walk test, Functional Reach Test, Berg Balance Scale and the Four Square Step Test. In addition, the following self-report forms included the Multiple Sclerosis Walking Scale and Modified Fatigue Impact Scale. Results: At the termination, both groups had significantly increased their walking speed (P=0.021) and mean step length (P=0.023). According to the 2-minute and 6-minute walking tests, both groups at the end of the intervention program had increased their walking speed. Mean (SD) increase in the Pilates and physical therapy groups were 39.1 (78.3) and 25.3 (67.2) meters, respectively. There was no effect of group X time in all instrumented and clinical balance and gait measures. Conclusions: Pilates is a possible treatment option for people with multiple sclerosis in order to improve their walking and balance capabilities. However, this approach does not have any significant advantage over standardized physical therapy

Novel methodology for assessing total recovery time in response to unexpected perturbations while walking.

Walking stability is achieved by adjusting the medio-lateral and anterior-posterior dimensions of the base of support (step length and step width, respectively) to contain an extrapolated center of mass. We aimed to calculate total recovery time after different types of perturbations during walking, and use it to compare young and older adults following different types of perturbations. Walking trials were performed in 12 young (age 26.92 ± 3.40 years) and 12 older (age 66.83 ± 1.60 years) adults. Perturbations were introduced at different phases of the gait cycle, on both legs and in anterior-posterior or medio-lateral directions, in random order. A novel algorithm was developed to determine total recovery time values for regaining stable step length and step width parameters following the different perturbations, and compared between the two participant groups under low and high cognitive load conditions, using principal component analysis (PCA). We analyzed 829 perturbations each for step length and step width. The algorithm successfully estimated total recovery time in 91.07% of the runs. PCA and statistical comparisons showed significant differences in step length and step width recovery times between anterior-posterior and medio-lateral perturbations, but no age-related differences. Initial analyses demonstrated the feasibility of comparisons based on total recovery time calculated using our algorithm

COVID‐19: a pandemic experience that illuminates potential reforms to health research

COVID‐19 has halted research around the globe and forced researchers out of their laboratories. Non‐emergency medical appointments were canceled. Ongoing clinical trials were challenged to create new modes of operation while public pressure mounted to find therapeutic options against COVID‐19. Yet, the inability to conduct research during COVID‐19 was overcome with cooperation, resource sharing, and compassion, which provides important lessons on how to improve health related research as we enter a new normal

A superconducting quantum memory with tens of milliseconds coherence time

Storing quantum information for an extended period of time is essential for running quantum algorithms with low errors. Currently, superconducting quantum memories have coherence times of a few milliseconds, and surpassing this performance has remained an outstanding challenge. In this work, we report a qubit encoded in a novel superconducting cavity with a coherence time of 34 ms, an improvement of over an order of magnitude compared to previous demonstrations. We use this long-lived quantum memory to store a Schr\"odinger cat state with a record size of 1024 photons, indicating the cavity's potential for bosonic quantum error correction.Comment: 19 pages, 11 figures, including supplementary informatio

Superconducting Cavity Qubit with Tens of Milliseconds Single-Photon Coherence Time

Storing quantum information for an extended period of time is essential for running quantum algorithms with low errors. Currently, superconducting quantum memories have coherence times of a few milliseconds, and surpassing this performance has remained an outstanding challenge. In this work, we report a single-photon qubit encoded in a novel superconducting cavity with a coherence time of 34 ms, representing an order of magnitude improvement compared to previous demonstrations. We use this long-lived quantum memory to store a Schrödinger cat state with a record size of 1024 photons, indicating the cavity’s potential for bosonic quantum error correction

Development, design, and conceptual issues of project zero exposure: A program to protect young children from tobacco smoke exposure

Abstract Background Tobacco smoke exposure (TSE) is a serious threat to child health. Roughly 40% of children worldwide are exposed to tobacco smoke, and the very young are often "captive smokers" in homes in which others smoke. The goal of this research project is to develop and evaluate an intervention to reduce young child tobacco smoke exposure. The objective of this paper is to document our approach to building the intervention, to describe the planned intervention, and to explore the conceptual issues regarding the intervention and its evaluation. Methods/Design This project is being developed using an iterative approach. We are currently in the middle of Stage 1. In this first stage, Intervention Development, we have already conducted a comprehensive search of the professional literature and internet resources, consulted with experts in the field, and conducted several Design Workshops. The planned intervention consists of parental group support therapy, a website to allow use of an "online/offline" approach, involvement of pediatricians, use of a video simulation game ("Dr. Cruz") to teach parents about child TSE, and personalized biochemical feedback on exposure levels. As part of this stage we will draw on a social marketing approach. We plan to use in-depth interviews and focus groups in order to identify barriers for behavior change, and to test the acceptability of program components. In Stage II, we plan to pilot the planned intervention with 5-10 groups of 10 parents each. In Stage III, we plan to implement and evaluate the intervention using a cluster randomized controlled trial with an estimated 540 participants. Discussion The major challenges in this research are twofold: building an effective intervention and measuring the effects of the intervention. Creation of an effective intervention to protect children from TSE is a challenging but sorely needed public health endeavor. We hope that our approach will contribute to building a stronger evidence base for control of child exposure to tobacco smoke. Trial registration ClinicalTrials.gov Identifier: NCT01335178</p