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17,929 results
  • Splenectomy for people with thalassaemia major or intermedia. [Review]
    Cochrane Database Syst Rev 2019; 9:CD010517Sharma A, Easow Mathew M, Puri L
  • CONCLUSIONS: The review was unable to find good quality evidence, in the form of randomised controlled studies, regarding the efficacy of splenectomy for treating thalassaemia major or intermedia. The single included study provided little information about the efficacy of splenectomy, and compared open surgery and laparoscopic methods. Further studies need to evaluate the long-term effectiveness of splenectomy and the comparative advantages of surgical methods. Due to a lack of high quality evidence from randomised controlled studies, well-conducted observational studies may be used to answer this question.
  • Deep Brain Stimulation for Tourette Syndrome: Potential Role in the Pediatric Population. [Journal Article]
    J Child Neurol 2019; :883073819872620Deeb W, Malaty I
  • Tourette syndrome (TS) is a complex neuropsychiatric disorder. Despite an expected natural history of improvement with age, many individuals continue to have severe tics and remain refractory to the current best pharmacologic and nonpharmacologic treatments. Deep brain stimulation (DBS) has emerged as a potential treatment option. This article reviews the published reports on the use of deep brai…
  • Repeat variations in polyglutamine disease-associated genes and cognitive function in old age. [Journal Article]
    Neurobiol Aging 2019Gardiner SL, Trompet S, … Aziz NA
  • Although the heritability of cognitive function in old age is substantial, genome-wide association studies have had limited success in elucidating its genetic basis, leaving a considerable amount of "missing heritability." Aside from single nucleotide polymorphisms, genome-wide association studies are unable to assess other large sources of genetic variation, such as tandem repeat polymorphisms. …
  • Long-term outcomes of childhood sexual abuse: an umbrella review. [Journal Article]
    Lancet Psychiatry 2019Hailes HP, Yu R, … Fazel S
  • CONCLUSIONS: Although childhood sexual abuse was associated with a wide range of psychosocial and health outcomes, systematic reviews on only two psychiatric disorders (post-traumatic stress disorder and schizophrenia) and one psychosocial outcome (substance misuse) were of a high quality. Whether services should prioritise interventions that mitigate developing certain psychiatric disorders following childhood abuse requires further review. Higher-quality meta-analyses for specific outcomes and more empirical studies on the developmental pathways from childhood sexual abuse to later outcomes are necessary.
  • Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. [Journal Article]
    Mov Disord 2019Dusek P, Mekle R, … Schneider SA
  • CONCLUSIONS: In membrane protein-associated neurodegeneration patients, magnetic susceptibilities were 2 to 3 times higher in the globus pallidus (P = 0.02) and SN (P = 0.02) compared to controls. In addition, significantly higher magnetic susceptibility was observed in the caudate nucleus (P = 0.02). Non-manifesting heterozygous mutation carriers exhibited significantly increased magnetic susceptibility (relative to controls) in the putamen (P = 0.003) and caudate nucleus (P = 0.001), which may be an endophenotypic marker of genetic heterozygosity. MR spectroscopy revealed significantly increased levels of glutamate, taurine, and the combined concentration of glutamate and glutamine in membrane protein-associated neurodegeneration, which may be a correlate of corticospinal pathway dysfunction frequently observed in membrane protein-associated neurodegeneration patients. © 2019 International Parkinson and Movement Disorder Society.
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