Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]
, 2019 Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna +6 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez +13 more
wiley +1 more source
New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome
Journal of Pediatric and Neonatal Individualized MedicineDefects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous.
Carolina Ferreira Gonçalves +11 more
doaj +1 more source
Perda da voz em professores e não professores Voice loss in teachers and non-teachers
Revista da Sociedade Brasileira de Fonoaudiologia, 2009 OBJETIVO: Verificar a percepção de professores e não-professores sobre as implicações de uma eventual perda de voz. MÉTODOS: Participaram 205 indivíduos sendo 105 professores e 100 não professores entre 23 a 65 anos, 106 mulheres e 99 homens.
Kelly Park, Mara Behlau
doaj +1 more source
Disturbances of sodium in critically ill adult neurologic patients: A clinical review [PDF]
, 2006 Disorders of sodium and water balance are common in critically ill adult neurologic patients. Normal aspects of sodium and water regulation are reviewed. The etiology of possible causes of sodium disturbance is discussed in both the general inpatient and
Crocker, M +3 more
core
Comparison of clinical signs and outcomes between dogs with presumptive ischemic myelopathy and dogs with acute non compressive nucleus pulposus extrusion [PDF]
, 2016 OBJECTIVE To compare clinical signs and outcomes between dogs with presumptive ischemic myelopathy and dogs with presumptive acute noncompressive nucleus pulposus extrusion (ANNPE). DESIGN Retrospective study. ANIMALS 51 dogs with ischemic myelopathy and
De Decker, S +3 more
core +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background B‐cell lymphoblastic lymphoma (B‐LBL) represents a rare variety of non‐Hodgkin lymphoma, with limited research on its biology, progression, and management. Methods A retrospective analysis was performed on the clinical characteristics of 256 patients aged ≤18 years who received treatment under the China Net Childhood Lymphoma (CNCL)‐
Zhijuan Liu +20 more
wiley +1 more source
Scientific Reports, 2021 Mutations in GBA, the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), represent the greatest genetic risk factor for developing synucleinopathies including Parkinson’s disease (PD).
Catherine Viel +8 more
doaj +1 more source
Presentation and Outcomes After Medical and Surgical Treatment Versus Medical Treatment Alone of Spontaneous Infectious Spondylodiscitis: A Systematic Literature Review and Meta-Analysis. [PDF]
, 2018 Study Design: Systematic literature review. Objectives: The aims of this study were to (1) describe the clinical features, disabilities, and incidence of neurologic deficits of pyogenic spondylodiscitis prior to treatment and (2) compare the functional ...
Buchholz, Avery L +10 more
core +1 more source
Transient neurologic symptoms following spinal anesthesia with isobaric mepivacaine: A decade of experience at Toronto Western Hospital [PDF]
, 2018 Background: Transient neurologic symptoms (TNSs) can be distressing for patients and providers following uneventful spinal anesthesia. Spinal mepivacaine may be less commonly associated with TNS than lidocaine; however, reported rates of TNS with ...
Abdallah, Faraj W. +4 more
core +2 more sources