Publications by authors named "Schiff E"

Objective: The present conflict in Israel has led to a surge in cases of acute stress disorder (ASD). The study examined a training program for integrative medicine (IM) providers working in supportive and palliative care settings, teaching clinical skills for treating ASD.

Methods: A 10-h online training program, designed by supportive care trained IM and mental health professionals was attended by a group of 32 IM providers.

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Background: Variants in CRX are associated with dominantly inherited retinopathy with considerable phenotypic variability. Many patients have central retinal degeneration; in some patients, we have observed an additional focus of degeneration in the nasal retina. This study explores this phenotypic association amongst patients with CRX-associated disease.

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Study Objective: The study examined a training program for integrative medicine (IM) providers, teaching clinical skills for treating acute stress disorder (ASD).

Methods: A 10-h online training program, designed by IM and mental health professionals, was attended by a group of 32 IM providers working in supportive and palliative oncology care. Pre- and post-course questionnaires assessed self-perceived levels of IM and mental health ASD-related skills (from 1, very low; to 7, very high).

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Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.

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Biallelic variants in are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of next-generation sequencing into clinical diagnostics has led to a significant uplift in molecular diagnostic rates, many patients remain molecularly unsolved. It is thought that non-coding variants or variants of uncertain significance contribute significantly to this diagnostic gap.

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Objective: Pediatric tracheostomy is associated with high morbidity and mortality, yet clinician knowledge and quality of tracheostomy care may vary widely. In situ simulation is effective at detecting and mitigating related latent safety threats, but evaluation via retrospective video review has disadvantages (eg, delayed analysis, and potential data loss). We evaluated whether a novel mobile application is accurate and reliable for assessment of in situ tracheostomy emergency simulations.

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Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has a role in skeletal and extraocular muscle development and rib formation. Variants in were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition.

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Objective: Although screening protocols for patients who present with asymmetric sensorineural hearing loss (ASNHL) exist, there are no clear guidelines to direct practitioners. In particular, various thresholds have been proposed for the degree of hearing loss that should prompt MRI studies, but the topic remains understudied. This project aims to compare protocols followed by practitioners to guide their imaging practices.

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Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non-syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.

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Purpose: We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies.

Methods: We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of males and females with the more common (non-ABCA4) inherited macular dystrophies (associated with BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3). BEST1 cases were subdivided into typical autosomal dominant and recessive disease.

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Context And Objectives: Cancer centers are increasingly providing complementary medicine as part of an emerging discipline termed 'integrative oncology' (IO). The present study explored factors associated with disparities in referral and adherence to a freely-provided IO program.

Methods: The databases of three oncology centers in northern Israel were searched retrospectively for chemotherapy-treated oncology patients eligible for referral by their oncology healthcare professionals to an integrative physician (IP) consultation.

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Background & Aims: The investigational first-generation core inhibitor vebicorvir (VBR) demonstrated safety and antiviral activity over 24 weeks in two phase IIa studies in patients with chronic HBV infection. In this long-term extension study, patients received open-label VBR with nucleos(t)ide reverse transcriptase inhibitors (NrtIs).

Methods: Patients in this study (NCT03780543) previously received VBR + NrtI or placebo + NrtI in parent studies 201 (NCT03576066) or 202 (NCT03577171).

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Article Synopsis
  • The study aims to investigate the molecular effects of the PHYH:c.678+5G>T variant, which has conflicting reports in the ClinVar database and appears with a low frequency in the South Asian population.
  • Researchers recruited patients with retinitis pigmentosa from Moorfields Eye Hospital and Buenos Aires, who had biallelic PHYH variants, and analyzed their blood samples for RNA sequencing.
  • Results showed that the variant significantly affects splicing in the PHYH gene, indicating a pathogenic classification, suggesting that patients with this genotype should be tested for phytanic acid levels due to varying presentations of the disease.
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Article Synopsis
  • This study focuses on understanding the genetic factors behind inherited retinal disease (IRD), a major cause of blindness, by analyzing a large cohort of patients in the UK who received molecular diagnoses from 2003 to 2020.
  • Researchers employed various genetic testing methods to identify disease-causing variants among patients, particularly examining variants in the most common IRD genes, such as ABCA4, USH2A, RPGR, PRPH2, and BEST1.
  • The findings revealed that 42.7% of families had variants in one of the five most common IRD genes, with specific insights into the prevalence and clustering of mutations in notable genes like USH2A and RPGR
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Article Synopsis
  • - Tracheostomies have a high risk of complications, and effective management relies on well-functioning teams, yet many healthcare providers lack the necessary knowledge and resources for safe care.
  • - A study conducted simulations of tracheostomy emergencies over nearly a year, revealing common human errors and latent safety threats (LSTs) related to communication, equipment, and infection control, with only half of teams successfully completing tasks in the time limit.
  • - The findings highlighted significant knowledge gaps among providers, with a low median quiz score of 46%, suggesting the need for targeted training and interventions to improve tracheostomy care and safety.
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Objective: Tracheostomy tube change is a multistep skill that must be performed rapidly and precisely. Despite the critical importance of this skill, there is wide variation in teaching protocols.

Methods: An innovative operant conditioning teaching methodology was employed and compared to traditional educational techniques.

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Context And Objectives: To explore the feasibility of implementing the joint guideline on integrative medicine for pain management in oncology, published by the Society for Integrative Oncology (SIO) and the American Society of Clinical Oncology (ASCO), for integrative oncology (IO) services in supportive and palliative care.

Methods: A qualitative research methodology was co-designed by the SIO-ASCO guideline committee, with the Society for Complementary Medicine, Israel Medical Association (IMA). A questionnaire with five open-ended questions exploring barriers and enablers to implementing the guideline was distributed to chairs and board members of nine IMA-affiliated medical societies; four deans of Israeli medical schools; and nurses from the Israeli Society for Oncology Nursing.

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Objective: To achieve consensus on critical steps and create an assessment tool for actual and simulated pediatric tracheostomy emergencies that incorporates human and systems factors along with tracheostomy-specific steps.

Methods: A modified Delphi method was used. Using REDCap software, an instrument comprising 29 potential items was circulated to 171 tracheostomy and simulation experts.

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Inflammatory bowel disease (IBD) is a group of chronic digestive tract inflammatory conditions whose genetic etiology is still poorly understood. The incidence of IBD is particularly high among Ashkenazi Jews. Here, we identify 8 novel and plausible IBD-causing genes from the exomes of 4453 genetically identified Ashkenazi Jewish IBD cases (1734) and controls (2719).

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Context And Objectives: The present study examined the impact of intraoperative acupuncture on anesthesia-related parameters in patients undergoing gynecological oncology surgery.

Methods: Participants underwent preoperative integrative oncology (IO) touch/relaxation treatments, followed by intraoperative acupuncture (Group A); preoperative IO treatments without acupuncture (Group B); or standard care only (Group C). Mean arterial pressure (MAP), heart rate (HR), MAP variability (mean of MAP standard deviation), bispectral index (BIS), and calculated blood pressure Average Real Variability (ARV) were measured intraoperatively.

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Background: In this study, the impact of a multimodal integrative oncology pre- and intraoperative intervention on pain and anxiety among patients undergoing gynecological oncology surgery was explored.

Methods: Study participants were randomized to three groups: Group A received preoperative touch/relaxation techniques, followed by intraoperative acupuncture; Group B received preoperative touch/relaxation only; and a control group (Group C) received standard care. Pain and anxiety were scored before and after surgery using the Measure Yourself Concerns and Wellbeing (MYCAW) and Quality of Recovery (QOR-15) questionnaires, using Part B of the QOR to assess pain, anxiety, and other quality-of-life parameters.

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Despite being the richest and most prepared nation in the world, the U.S. responded badly to the COVID-19 crisis.

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Fibrolamellar carcinoma (FLC) is a rare cancer of the liver that most commonly affects children and young adults. There is no clear standard of care for the disease, whose response to treatment seems to be very different from that of hepatocellular carcinoma. We present a case of FLC in a patient in her mid 30s that recurred and persisted despite resection and multiple lines of treatment.

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Objective: To compare the effectiveness of acupuncture alone or with additional integrative oncology modalities for taxane-induced peripheral neuropathy-related symptoms in patients with gynecological and breast cancer.

Methods: The study was a prospective evaluation of patients undergoing twice-weekly treatments with either acupuncture alone (single-modality, group A) or with additional manual-movement and mind-body therapies (multimodality, group B), for 6 weeks. Symptom severity was assessed at baseline, 6 weeks, and 9 weeks using the Functional Assessment of Cancer Therapy-Taxane (FACT-Tax) tool; and von Frey perception thresholds.

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