A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.
La Clinica terapeutica, 2021 De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic, and neurological anomalies are generally also present. This syndrome is rare and the complex therapeutic management, from a surgical but also rehabilitative point of view, has not ...
Celletti C. +7 more
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Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency [PDF]
, 2014 We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic auto-inflammation, invasive bacterial infections and muscular amylopectinosis.
Abhyankar, Avinash +32 more
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Is there a link between treatments with exogenous corticosteroids and dog behaviour problems? [PDF]
, 2016 Possible side effects of exogenous corticosteroids have been described in both humans and laboratory animals, with recent studies highlighting this issue in dogs. In this paper the behaviour of 345 dogs drawn from the caseload of a behaviour clinic based
Burman, O., Mills, D. S., Notari, L.
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Characterization of an influenza virus pseudotyped with Ebolavirus glycoprotein [PDF]
, 2018 We have produced a new Ebola virus pseudotype: E-S-FLU, which can be handled in biosafety level-1/2 containment for laboratory analysis. E-S-FLU is a single cycle influenza virus coated with Ebolavirus glycoprotein, and it encodes enhanced green ...
Annaert, Wim +6 more
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, 2007 Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown.
Heinz Jungbluth +81 more
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STAT3 in the systemic inflammation of cancer cachexia [PDF]
, 2016 Weight loss is diagnostic of cachexia, a debilitating syndrome contributing mightily to morbidity and mortality in cancer. Most research has probed mechanisms leading to muscle atrophy and adipose wasting in cachexia; however cachexia is a truly systemic
Bonetto, Andrea +2 more
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Progeroid Syndrome of De Barsy With Hypocalcemic Seizures
Journal of Nepal Paediatric Society, 2012 De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation-syndrome now commonly referred as ‘progerioid syndrome of de Barsy’. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia.
R El Bahtimi +3 more
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Behavioural pharmacology of the α5-GABAA receptor antagonist S44819:Enhancement and remediation of cognitive performance in preclinical models [PDF]
, 2017 Previous work has shown that S44819 is a novel GABAA receptor (GABAAR) antagonist, which is selective for extrasynaptic GABAARs incorporating the α5 subunit (α5-GABAARs).
Antoni, Ferenc A. +11 more
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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience [PDF]
, 2021 Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years.
Azevedo, L +23 more
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Brain manifestations secondary to auricular myxoma [PDF]
, 2020 4 páginasEl mixoma cardíaco es el tumor benigno más común del corazón. En la mayoría de los casos, se localiza en la aurícula izquierda , lo que puede generar embolización neurológica ; esta puede manifestarse como un evento isquémico, la formación de un
Cordoba, Laura Gilon +4 more
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