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Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

Overview of attention for article published in Diagnostic Pathology, April 2015
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Title
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
Published in
Diagnostic Pathology, April 2015
DOI 10.1186/s13000-015-0270-8
Pubmed ID
Authors

Jariya Waisayarat, Chinnawut Suriyonplengsaeng, Chaiyos Khongkhatithum, Mana Rochanawutanon

Abstract

Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most serious form of the disease's spectrum. The affected newborn has no spontaneous movement, fractures at birth and respiratory insufficiency. The present case was a Thai male, floppy at birth with fractures of both humeri and femurs and ventilator-dependent respiration. The patient developed bilateral chylothorax two weeks later and died at the age of 6 weeks. Whole-body postmortem examination with informed consent and genetic analysis of ACTA1 mutation were performed. A skeletal muscle biopsy examined by light and transmission electron microscopy showed the features of nemaline myopathy. ACTA 1 heterozygous missense mutation (c.1127G > C) was identified. Histological examination of both lungs revealed primary pulmonary lymphangiectasia. To the best of our knowledge, congenital nemaline myopathy with primary pulmonary lymphangiectasia causing bilateral chylothrax has never been previously reported. Considering chylothorax as a poor prognostic index and an unusual clinical presentation of severe congenital NM are proposed. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9710506431489501 .

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 23 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 26%
Other 4 17%
Lecturer > Senior Lecturer 3 13%
Student > Master 3 13%
Lecturer 1 4%
Other 5 22%
Unknown 1 4%
Readers by discipline Count As %
Medicine and Dentistry 8 35%
Biochemistry, Genetics and Molecular Biology 3 13%
Nursing and Health Professions 3 13%
Unspecified 1 4%
Agricultural and Biological Sciences 1 4%
Other 3 13%
Unknown 4 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 April 2015.
All research outputs
#21,172,363
of 23,822,306 outputs
Outputs from Diagnostic Pathology
#973
of 1,170 outputs
Outputs of similar age
#202,409
of 238,839 outputs
Outputs of similar age from Diagnostic Pathology
#42
of 51 outputs
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So far Altmetric has tracked 1,170 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 51 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.