Articles with "orphan disease" as a keyword



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Collecting ducts carcinoma: An orphan disease. Literature overview and future perspectives.

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Published in 2019 at "Cancer treatment reviews"

DOI: 10.1016/j.ctrv.2019.101891

Abstract: Collecting ducts carcinoma (CDC) is a rare and aggressive histological subtype of renal cancer accounting for only 1% of renal tumors. Usually patients present in bad clinical conditions due to a symptomatic disease with synchronous… read more here.

Keywords: literature; treatment; disease; ducts carcinoma ... See more keywords
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Anaesthesia and orphan disease series: What is the yield?

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Published in 2017 at "European journal of anaesthesiology"

DOI: 10.1097/eja.0000000000000616

Abstract: In April 2011, the Editorial board of the European Journal of Anaesthesiology decided to offer clinicians the opportunity of publishing case reports on the anaesthetic management of patients with rare diseases as Letters to the… read more here.

Keywords: anaesthesiology; journal; anaesthesia orphan; orphan disease ... See more keywords
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Anaesthesia and orphan disease: Tracheal reconstruction in two children with Morquio disease.

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Published in 2020 at "European Journal of Anaesthesiology"

DOI: 10.1097/eja.0000000000001109

Abstract: Morquio disease is an inherited metabolic disorder from the family of lysosomal storage disorders called mucopolysaccharidoses (MPS). Each type of MPS has an inherited enzyme defect that results in the accumulation of specific waste products… read more here.

Keywords: orphan disease; tracheal reconstruction; morquio disease; disease tracheal ... See more keywords
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Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival – a case report

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Published in 2023 at "Annals of Medicine and Surgery"

DOI: 10.1097/ms9.0000000000000473

Abstract: Introduction: Alagille syndrome has been described as a multisystemic clinical spectrum caused by an autosomal dominant genetic disorder. Although it is estimated that there is 1 case per 100 000 live births, the prognosis for… read more here.

Keywords: disease colombia; alagille syndrome; orphan disease; case ... See more keywords
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Bronchiectasis: moving from an orphan disease to an unpleasant socioeconomic burden

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Published in 2021 at "ERJ Open Research"

DOI: 10.1183/23120541.00507-2021

Abstract: Bronchiectasis is a complex and heterogeneous condition characterised by persistent airway dilation, mucus hypersecretion, and recurrent respiratory infectious exacerbations. Numerous diseases and external insults may trigger the process of developing bronchiectasis, which makes the management… read more here.

Keywords: disease unpleasant; bronchiectasis; disease; bronchiectasis moving ... See more keywords
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Pyoderma gangrenosum and dehydrated human amnion/chorion membrane: a potential tool for an orphan disease.

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Published in 2022 at "Journal of wound care"

DOI: 10.12968/jowc.2022.31.10.808

Abstract: OBJECTIVE Pyoderma gangrenosum (PG) is an often-misdiagnosed, painful, inflammatory and ulcerative skin disorder. It is an orphan disease, where standard wound treatments such as sharp surgical debridement are contraindicated. This retrospective case series sought to… read more here.

Keywords: dehydrated human; pyoderma gangrenosum; human amnion; closure ... See more keywords
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Gaucher disease: An orphan disease with significant osseous manifestations

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Published in 2018 at "Journal of Cellular and Molecular Medicine"

DOI: 10.15761/jcmm.1000110

Abstract: Gaucher disease, the most common of the lysosomal storage diseases, is a systematic familial disease classified in “orphan diseases’’, a group of rare disorders with prevalence of 1:50,000 or lower in the general population. Gaucher… read more here.

Keywords: gaucher disease; disease orphan; gaucher cells; disease ... See more keywords
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T2-Low Asthma: A Discussed but Still Orphan Disease

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Published in 2023 at "Biomedicines"

DOI: 10.3390/biomedicines11041226

Abstract: Asthma affects 10% of the worldwide population; about 5% of cases are severe with the need for target therapies such as biologics. All the biologics approved for asthma hit the T2 pathway of inflammation. T2-high… read more here.

Keywords: asthma; discussed still; low asthma; orphan disease ... See more keywords