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  1. Article ; Online: Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents.

    Shinkarevsky Fleitman, Iris / Nevo, Yoram / Harel, Liora / Amarilyo, Gil / Dori, Amir / Agmon-Levin, Nancy / Kachko, Ludmyla / Zaks Hoffer, Gal / Dabby, Ron / Rabie, Malcolm / Aharoni, Sharon

    Muscle & nerve

    2020  Volume 61, Issue 6, Page(s) 791–796

    Abstract: Introduction: Small-fiber neuropathy is rare in children. It has been associated with several autoimmune disorders, but there are no reports of an autoinflammatory etiology.: Methods: The data of four children/adolescents presenting with ... ...

    Abstract Introduction: Small-fiber neuropathy is rare in children. It has been associated with several autoimmune disorders, but there are no reports of an autoinflammatory etiology.
    Methods: The data of four children/adolescents presenting with erythromelalgia and neuropathic pain from 2014 to 2019 were collected retrospectively from the electronic database of a pediatric medical center.
    Results: Results of clinical and/or electrophysiological evaluation excluded large nerve fiber involvement. Skin biopsy results confirmed small-fiber neuropathy. According to genetic analysis, two patients were heterozygous and one was homozygous for mutations in the familial Mediterranean fever (MEFV) gene. Behcet disease was diagnosed in the fourth patient. Treatment with anti-interleukin-1 agents, intravenous immunoglobulin, and glucocorticoids was beneficial.
    Discussion: The diagnosis of small-fiber neuropathy should be considered in children/adolescents presenting with erythromelalgia. A thorough investigation is required to reveal the underlying disorder. Clinicians should be alert to the peripheral neurological manifestations of autoinflammatory syndromes because effective treatments are available.
    MeSH term(s) Adolescent ; Autoimmune Diseases/complications ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/physiopathology ; Child ; Erythromelalgia/complications ; Erythromelalgia/diagnosis ; Erythromelalgia/physiopathology ; Female ; Humans ; Inflammation/complications ; Inflammation/diagnosis ; Inflammation/physiopathology ; Retrospective Studies ; Small Fiber Neuropathy/complications ; Small Fiber Neuropathy/diagnosis ; Small Fiber Neuropathy/physiopathology ; Syndrome
    Language English
    Publishing date 2020-03-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.26857
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1449: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 551: Show issues

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  2. Article ; Online: Diagnostic value of sputum cultures in children under 2 years of age with chronic suppurative lung diseases.

    Stafler, Patrick / Zaks-Hoffer, Gal / Scheuerman, Oded / Ben-Zvi, Haim / Mussaffi, Huda / Mei-Zahav, Meir / Steuer, Guy / Levine, Hagit / Bar-On, Ophir / Mantin, Hadas / Prais, Dario / Blau, Hannah

    Pediatric pulmonology

    2020  Volume 55, Issue 12, Page(s) 3421–3428

    Abstract: Background: Acquiring sputum cultures from infants is considered challenging. We describe their yield in infants with cystic fibrosis (CF) and other chronic suppurative lung diseases (CSLDs).: Methods: Retrospective medical record review over a 4- ... ...

    Abstract Background: Acquiring sputum cultures from infants is considered challenging. We describe their yield in infants with cystic fibrosis (CF) and other chronic suppurative lung diseases (CSLDs).
    Methods: Retrospective medical record review over a 4-year period, for infants aged 0-2 years with ≥2 airway bacterial cultures acquired by deep suction or induced sputum ≥4 weeks apart. Data included demographics, culture results, and clinical status.
    Results: A total of 98 infants (16 CF) were evaluated and 534 sputum cultures acquired, 201 in CF and 333 in CSLD. There were 12 (2-23), median (range) cultures/CF infant, and 3 (2-21)/CSLD infant. Age at first culture was 3.8 (1-19.5) months for CF and 10.4 (0.5-22) months for CSLD; p = .016. In total, 360 cultures (67%) were positive for any bacteria, with 170/234 (73%) positive during exacerbations, compared with 190/300 (63%) during routine visits; p = .05. More infants with CF than CSLD had cultures positive for Staphylococcus aureus (SA; 75% vs. 34%; p = .004) throughout the period. Pseudomonas aeruginosa (PA) was common in both CF and CSLD (56% and 44%, respectively; p = .42) and increased over time for CF but was high throughout for CSLD. The number of hospital days before PA acquisition was 6 (10.2) for CF and 28.8 (38.7) for CSLD (p = .003). No CF but 6/82 (7%) CSLD infants had chronic PA (p = .56).
    Conclusions: Sputum cultures showed that infection, in particular PA, is common in CF and CSLD whereas SA is more common in CF. Prospective studies are warranted to elucidate the role of active surveillance in guiding antibiotic therapy.
    MeSH term(s) Anti-Bacterial Agents/therapeutic use ; Bacteria ; Child ; Child, Preschool ; Cystic Fibrosis/drug therapy ; Female ; Humans ; Infant ; Infant, Newborn ; Lung Diseases/diagnosis ; Lung Diseases/microbiology ; Male ; Prospective Studies ; Pseudomonas aeruginosa ; Retrospective Studies ; Sputum/microbiology ; Suppuration/drug therapy
    Chemical Substances Anti-Bacterial Agents
    Language English
    Publishing date 2020-10-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.25103
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2143: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article: Refining the Phenotypic Spectrum of

    Eliyahu, Aviva / Barel, Ortal / Greenbaum, Lior / Zaks Hoffer, Gal / Goldberg, Yael / Raas-Rothschild, Annick / Singer, Amihood / Bar-Joseph, Ifat / Kunik, Vered / Javasky, Elisheva / Staretz-Chacham, Orna / Pode-Shakked, Naomi / Bazak, Lily / Ruhrman-Shahar, Noa / Pras, Elon / Frydman, Moshe / Shohat, Mordechai / Pode-Shakked, Ben

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 844845

    Abstract: The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious heterozygous variants ... ...

    Abstract The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious heterozygous variants in
    Language English
    Publishing date 2022-03-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.844845
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

    Michaelson-Cohen, Rachel / Salzer-Sheelo, Liat / Sukenik-Halevy, Rivka / Koifman, Arie / Fellner, Avi / Reches, Adi / Marom, Daphna / Behar, Doron M / Sofrin-Drucker, Efrat / Zaks-Hoffer, Gal / Weiss-Hubshmann, Monika / Oresntein, Naama / Kropach-Gilad, Nesia / Rhurman-Shahar, Noa / Averbuch, Noa Shefer / Magal, Nurit / Bazak, Lily / Josefberg, Sagi / Matar, Reut /
    Goldberg, Yael / Shohat, Mordechai / Basel-Salmon, Lina / Maya, Idit

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

    2020  Volume 22, Issue 10, Page(s) 1703–1709

    Abstract: Purpose: Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model.: Methods: We assessed the 5-day, ... ...

    Abstract Purpose: Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model.
    Methods: We assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests, practice cases, and clinical exercises. Pre- and post questionnaires assessed knowledge change, using t-tests to compare groups. Satisfaction on program completion and after 3 years were evaluated. Implementation in other centers determined acceptability.
    Results: During 2012-2018, 774 clinicians from multiple disciplines and career stages attended 35 programs; 334 (43%) attended the 5-day extended format. Evaluations showed significant improvement of genomic literacy (mean 15.05/100 points, p < 0.001). Residents initially had higher scores than specialists (pre: 66.3 ± 17.3 vs. 58.7 ± 16.6, respectively, p = 0.002); both significantly improved, with specialists "catching up" (post: 79.1 ± 17.2 vs. 75.7 ± 15.9, nonsignificant (NS)); there was a similar trend between fellows and subspecialists (pre: 70 ± 18 vs. 59.4 ± 16.4, respectively, p = 0.007; post: 78.6 ± 16.4 vs. 73.2 ± 17.7, respectively, NS). Younger specialists (≤10 years residency) had significantly higher pre- and post scores. Absolute improvement in scores did not depend on medical specialties.
    Conclusion: Our program is effective in improving genomics literacy for clinicians, irrespective of career length or expertise, and could be a model for improving skills in practical genomics for all medical professionals.
    MeSH term(s) Genomics ; Internship and Residency ; Medicine ; Surveys and Questionnaires ; Tertiary Care Centers
    Language English
    Publishing date 2020-07-03
    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 10.1038/s41436-020-0868-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
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