Parsonage-Turner Syndrome [PDF]
HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2010 Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness.
Joseph H, Feinberg, Jeffrey, Radecki
openaire +2 more sources
Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome [PDF]
, 2015 Congenital anomalies exert significant impact on individuals and their families, with particularly negative effects on their quality of life. However, studies focusing on the psychological and behavioral characteristics of children with congenital ...
Diez, Higa Midory +3 more
core +1 more source
A rare coincidence of Turner syndrome and bronchiectasis: A case report
Clinical Case Reports, 2022 Similar to bronchiectasis, Turner syndrome is possible to have more pathological manifestations or etiologies than what has already been documented.
Mohammad Bader Almoshantaf +6 more
doaj +1 more source
Turner syndrome and associated problems in turkish children: A multicenter study [PDF]
, 2015 Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A. +73 more
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MR imaging of entrapment neuropathies of the shoulder [PDF]
, 2010 LEARNING OBJECTIVES: To describe the MRI features of most common entrapment neuropathies of the shoulder: - Parsonage-Turner syndrome - quadrilateral space syndrome (axillary neuropathy) - suprascapular nerve syndrome BACKGROUND: Entrapment ...
Faletti, C. +4 more
core +1 more source
Concurrent Van der Woude syndrome and Turner syndrome: A case report
SAGE Open Medical Case Reports, 2017 Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls.
Evan Los +2 more
doaj +1 more source
A prevalência do polimorfismo A1298C e não do C677T do gene MTHFR está relacionada à ocorrência de aneuploidias cromossômicas em mulheres brasileiras portadoras da síndrome de Turner [PDF]
, 2008 BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the ...
Barbosa, Caio P. +7 more
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A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndrome [PDF]
, 2016 Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of cells with characteristics similar to bone marrow-derived Langerhans cells. The case of a young woman, affected by Turner syndrome and a solitary intraparenchymal LCH
Alafaci, C. +5 more
core +2 more sources
Brazilian Journal of Otorhinolaryngology, 2021 Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial
Martha Marcela de Matos Bazilio +5 more
doaj +1 more source
Cholesteatoma and family history: An international survey [PDF]
, 2020 Objective To explore the relative frequency of a family history of cholesteatoma in patients with known cholesteatoma, and whether bilateral disease or earlier diagnosis is more likely in those with a family history.
Clark, Allan +6 more
core +1 more source