CUTANEOUS MASTOCYTOSIS IN CHILDREN : ABOUT 5 CASES AND REVIEW OF THE LITERATURE

Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings.

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Cutaneous mastocytosis associated with a mixed germ cell tumour of the ovary: report of a case and review of the literature.

British Journal of Dermatology ◽

10.1046/j.1365-2133.2001.04322.x ◽

2001 ◽

Vol 145 (2) ◽

pp. 309-312 ◽

Cited By ~ 7

Author(s):

S. Miyagawa ◽

S. Hirota ◽

Y-D. Park ◽

M. Yamasaki ◽

N. Daikoku ◽

...

Keyword(s):

Germ Cell ◽

Germ Cell Tumour ◽

Cell Tumour ◽

Review Of The Literature ◽

Cutaneous Mastocytosis

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Faculty evaluation: review of the literature most pertinent to dental education

Journal of Dental Education ◽

10.1002/j.0022-0337.1977.41.6.tb01095.x ◽

1977 ◽

Vol 41 (6) ◽

pp. 290-300

Author(s):

DW Chambers

Keyword(s):

Dental Education ◽

Faculty Evaluation ◽

Review Of The Literature

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Telepractice for Adult Speech-Language Pathology Services: A Systematic Review

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_persp-19-00146 ◽

2020 ◽

Vol 5 (1) ◽

pp. 326-338 ◽

Cited By ~ 9

Author(s):

Kristen Weidner ◽

Joneen Lowman

Keyword(s):

Systematic Review ◽

Primary Progressive Aphasia ◽

Future Research ◽

Service Delivery Model ◽

Speech Language Pathology ◽

Review Of The Literature ◽

Research Designs ◽

Assessment And Treatment ◽

Language Pathology ◽

Screening Assessment

Purpose We conducted a systematic review of the literature regarding adult telepractice services (screening, assessment, and treatment) from approximately 2014 to 2019. Method Thirty-one relevant studies were identified from a literature search, assessed for quality, and reported. Results Included studies illustrated feasibility, efficacy, diagnostic accuracy, and noninferiority of various speech-language pathology services across adult populations, including chronic aphasia, Parkinson's disease, dysphagia, and primary progressive aphasia. Technical aspects of the equipment and software used to deliver services were discussed. Some general themes were noted as areas for future research. Conclusion Overall, results of the review continue to support the use of telepractice as an appropriate service delivery model in speech-language pathology for adults. Strong research designs, including experimental control, across multiple well-described settings are still needed to definitively determine effectiveness of telepractice services.

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