Results 41 to 50 of about 309,203 (310)
Equine degenerative myeloencephalopathy: prevalence, impact, and management. [PDF]
, 2018 Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy is an inherited neurodegenerative disorder affecting many horse breeds. Clinical signs include a symmetric ataxia and an abnormal stance at rest, similar to cervical vertebral ...
Burns, Erin N, Finno, Carrie J
core
Aetiology of sudden cardiac death in sport: a histopathologist's perspective. [PDF]
, 2012 In the UK, when a young person dies suddenly, the coroner is responsible for establishing the cause of death. They will ask a consultant pathologist to carry out an autopsy in order to ascertain when, where and how that person died.
Sheppard, MN
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson +3 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski +9 more
wiley +1 more source
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders
Haematologica, 2017 Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders.
Sara Orsini +35 more
doaj +1 more source
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]
, 2019 Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G. +7 more
core +1 more source
Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle +5 more
wiley +1 more source
A Window on the Genetics of Human Speech: The FOXP2 Gene [PDF]
, 2007 The development of human speech seems to be a species-specific and genetically determined capacity and is considered an extremely important step in the rise of modern humans, human culture and civilisation.
Barabás, Katalin +3 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Nurses are central to cancer care for children and adolescents, yet no comprehensive synthesis has defined essential core competencies for pediatric oncology nursing (PON) practice internationally, particularly in Latin America and the Caribbean (LAC).
Luís Carlos Lopes‐Júnior +7 more
wiley +1 more source
An Overview of Leber’s Hereditary Optic Neuropathy [PDF]
, 2015 Typically affecting males ranging from 20 to 24 years of age, Leber’s Hereditary Optic Neuropathy (LHON) is a disorder that is characterized by an acute loss of central vision.
Dalton, Matthew R
core +2 more sources