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  1. Article ; Online: Implementation of a Personalized Digital App for Pediatric Preanesthesia Evaluation and Education: Ongoing Usability Analysis and Dynamic Improvement Scheme.

    Connelly, Yaron / Lotan, Roni / Brzezinski Sinai, Yitzhak / Rolls, Dan / Beker, Amir / Abensour, Eilone / Neudorfer, Orit / Stocki, Daniel

    JMIR formative research

    2022  Volume 6, Issue 5, Page(s) e34129

    Abstract: Background: Preanesthesia evaluation is a basic practice preceding any surgical procedure, aimed at tailoring individualized anesthetic plans for patients, improving safety, and providing patients with educational knowledge and tools in preparation for ... ...

    Abstract Background: Preanesthesia evaluation is a basic practice preceding any surgical procedure, aimed at tailoring individualized anesthetic plans for patients, improving safety, and providing patients with educational knowledge and tools in preparation for the surgery day. In the last 2 decades, eHealth and mobile health (mHealth) settings have gradually replaced part of the face-to-face encounters as the platform for preanesthesia communication between doctor and patient, yielding a range of benefits as demonstrated in recent publications. Nevertheless, there is a lack of studies examining the effectiveness of surgical mHealth apps focusing on the pediatric preanesthetic setting and addressing their usability among families.
    Objective: This study describes a dynamic approach for the development process of GistMD's preanesthesia mHealth system, a mobile-based educational and management system designed for the pediatric setting.
    Methods: The study was conducted in 4 departments at a 1500-bed quaternary, academic medical center in Tel Aviv, Israel. During the study period, the link to the preanesthesia system was sent via SMS text messages to families whose children were about to undergo surgery. The system included preanesthesia questionnaires, educational videos, downloadable instructions, and consent forms. Continuous collection and examination of usability data were conducted during the implementation term including responsiveness, effectiveness, and satisfaction indicators. The information collected in each stage was used to draw conclusions regarding potential usability gaps of the system and to plan product adjustments for the following period.
    Results: During 141 days of implementation, the link to the GistMD preanesthesia management system was sent to 769 families, and product-fit actions were implemented during this term: (1) changing text message scheduling for addressing learnability and accessibility, resulting in a significant increase of 27% (χ
    Conclusions: Our results indicate that mHealth product-fit decisions originating from theory-based approaches and ongoing usability data analysis allow tailoring of the most appropriate responses for usability gaps, as reflected in increased use rates and satisfaction. In the case of the preanesthesia management system in the pediatric setting, increased usability conveyed important benefits for patients and families. This work suggests a framework and study methods that may also be applicable in other mHealth settings and domains.
    Language English
    Publishing date 2022-05-05
    Publishing country Canada
    Document type Journal Article
    ISSN 2561-326X
    ISSN (online) 2561-326X
    DOI 10.2196/34129
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Glatiramer acetate: long-term safety and efficacy in relapsing-remitting multiple sclerosis.

    Boster, Aaron L / Ford, Corey C / Neudorfer, Orit / Gilgun-Sherki, Yossi

    Expert review of neurotherapeutics

    2015  Volume 15, Issue 6, Page(s) 575–586

    Abstract: Glatiramer acetate (GA) is approved for relapsing-remitting multiple sclerosis in 57 countries worldwide, with more than 2 million patient-years of exposure and over 20 years of continuous clinical use without new safety concerns. GA has an overall ... ...

    Abstract Glatiramer acetate (GA) is approved for relapsing-remitting multiple sclerosis in 57 countries worldwide, with more than 2 million patient-years of exposure and over 20 years of continuous clinical use without new safety concerns. GA has an overall favorable risk-benefit profile: 30% reduced annual relapse rate and decreased brain lesion activity. In clinically definite MS or clinically isolated syndrome, GA slows brain atrophy, which may be related to its unique anti-inflammatory and neuroprotective mechanisms of action. Early treatment with GA delays the onset of clinically definite MS more effectively than late treatment in clinically isolated syndrome. GA is not associated with immunosuppression, autoimmune disease, infections or development of neutralizing antibodies. A new three-times-weekly formulation of GA is available to potentially reduce the incidence of injection-related side effects. Other safety advantages of GA include its pregnancy rating (Category B) and limited uncontrolled data suggesting that tolerability is similar in children with MS.
    MeSH term(s) Antirheumatic Agents/therapeutic use ; Female ; Glatiramer Acetate/therapeutic use ; Humans ; Longitudinal Studies ; Male ; Multiple Sclerosis, Relapsing-Remitting/drug therapy ; Pregnancy
    Chemical Substances Antirheumatic Agents ; Glatiramer Acetate (5M691HL4BO)
    Language English
    Publishing date 2015-06
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2112534-X
    ISSN 1744-8360 ; 1473-7175
    ISSN (online) 1744-8360
    ISSN 1473-7175
    DOI 10.1586/14737175.2015.1040768
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Late-onset Tay-Sachs disease.

    Neudorfer, Orit / Kolodny, Edwin H

    The Israel Medical Association journal : IMAJ

    2004  Volume 6, Issue 2, Page(s) 107–111

    MeSH term(s) Age of Onset ; Bone Marrow Transplantation ; Genetic Therapy ; Humans ; Mutation ; Tay-Sachs Disease/diagnosis ; Tay-Sachs Disease/epidemiology ; Tay-Sachs Disease/genetics ; Tay-Sachs Disease/therapy ; beta-N-Acetylhexosaminidases/genetics
    Chemical Substances beta-N-Acetylhexosaminidases (EC 3.2.1.52)
    Language English
    Publishing date 2004-02
    Publishing country Israel
    Document type Journal Article
    ZDB-ID 2008291-5
    ISSN 1565-1088 ; 0021-2180
    ISSN 1565-1088 ; 0021-2180
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

    Zimran, Ari / Neudorfer, Orit / Elstein, Deborah

    The New England journal of medicine

    2005  Volume 352, Issue 7, Page(s) 728–31; author reply 728–31

    MeSH term(s) Gaucher Disease/genetics ; Glucosylceramidase/genetics ; Heterozygote ; Humans ; Jews/genetics ; Mutation ; Parkinson Disease/genetics ; Parkinson Disease/prevention & control
    Chemical Substances Glucosylceramidase (EC 3.2.1.45)
    Language English
    Publishing date 2005-02-17
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Pregnancy Outcomes from the Branded Glatiramer Acetate Pregnancy Database.

    Sandberg-Wollheim, Magnhild / Neudorfer, Orit / Grinspan, Augusto / Weinstock-Guttman, Bianca / Haas, Judith / Izquierdo, Guillermo / Riley, Claire / Ross, Amy Perrin / Baruch, Peleg / Drillman, Talya / Coyle, Patricia K

    International journal of MS care

    2017  Volume 20, Issue 1, Page(s) 9–14

    Abstract: Background: Appropriate counseling and treatment for women with multiple sclerosis (MS) who may become pregnant requires an understanding of the effects of exposure to disease-modifying therapies (DMTs) during pregnancy. Current reports and studies are ... ...

    Abstract Background: Appropriate counseling and treatment for women with multiple sclerosis (MS) who may become pregnant requires an understanding of the effects of exposure to disease-modifying therapies (DMTs) during pregnancy. Current reports and studies are limited in their usefulness, mostly by small sample size. Branded glatiramer acetate (GA) is a DMT approved for the treatment of relapsing forms of MS. For more than 2 decades, it has been shown to be efficacious and to have a favorable safety profile. The Teva Pharmaceutical Industries Ltd global pharmacovigilance database comprises data from more than 7000 pregnancies, during which women with MS were exposed to treatment with branded GA.
    Methods: We analyzed data from Teva's global pharmacovigilance database. Pregnancy outcomes for patients treated with branded GA were compared with reference rates of abnormal pregnancy outcomes reported in two large registries representing the general population.
    Results: Pregnancies exposed to branded GA were not at higher risk for congenital anomalies than what is expected in the general population.
    Conclusions: These data provide evidence that branded GA exposure during pregnancy seems safe, without teratogenic effect.
    Language English
    Publishing date 2017-10-31
    Publishing country United States
    Document type Journal Article
    ISSN 1537-2073
    ISSN 1537-2073
    DOI 10.7224/1537-2073.2016-079
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

    Neudorfer, Orit / Pastores, Gregory M / Zeng, Bai J / Gianutsos, John / Zaroff, Charles M / Kolodny, Edwin H

    Genetics in medicine : official journal of the American College of Medical Genetics

    2005  Volume 7, Issue 2, Page(s) 119–123

    Abstract: Purpose: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses.: Methods: A comprehensive physical examination, including ...

    Abstract Purpose: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses.
    Methods: A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' alpha-subunit mutations (beta-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course.
    Results: Twenty-one patients (current mean age: 27.0 years; range: 14-47 years) were identified. The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the beta-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage.
    Conclusions: Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later-onset of expression results from the presence of at least one allele (usually the G269S mutation), associated with residual enzyme (beta-hexosaminidase A) activity. A positive family history is a valuable clue, enabling early diagnosis. Nonspecific cerebellar atrophy on brain imaging is another important finding. This entity should be considered among patients presenting with speech, gait, and balance problems, and those with psychiatric disorders even when focal neurologic deficits may be initially absent. Accurate diagnosis will permit appropriate genetic counseling regarding disease prognosis and reproductive risks.
    MeSH term(s) Adolescent ; Adult ; Age of Onset ; Cerebellum/pathology ; Female ; Genotype ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurologic Examination ; Phenotype ; Physical Examination ; Psychotic Disorders/etiology ; Psychotic Disorders/genetics ; Tay-Sachs Disease/complications ; Tay-Sachs Disease/genetics ; Tay-Sachs Disease/psychology
    Language English
    Publishing date 2005-02-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1097/01.gim.0000154300.84107.75
    Database MEDical Literature Analysis and Retrieval System OnLINE

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