排序方式: 共有40条查询结果,搜索用时 15 毫秒
21.
Complex functional mechanisms underlie the etiopathogenesis of affective disorders. However, therapeutic implications of new insights are still limited. From the neuropsychological perspective therapy focuses on limbic-cortical (bottom-up) processes whereas cortical-limbic regulatory systems (top-down) were rarely mentioned, although first evidence of their relevance was given in the 80ties, e.g. the use of GABAergic anticonvulsants in affective disorders. Meanwhile modern brain imaging studies support a pronounced role of cortical-limbic top-down mechanisms in the regulation of mood and the therapy of depression, e.g. the effects of cognitive behavioural therapy. The article briefly reviews relevant literature focusing on the neuropsychological hypothesis and the therapeutic implications of these and pharmacologic data. Psychotherapy as well as anticonvulsants appear to mainly affect cortico-limbic mechanisms compared to antidepressants which influence mostly limbic-cortical processes. The combination of both regulatory systems, e.g. the combination of antidepressants and anticonvulsants, appear to have synergistic effects. Such combinations may also be effective in low doses of each compound which does, furthermore, reduce the amount of unwanted side-effects. Studies combining classical antidepressants and mood-stabilizing medication (anticonvulsants and newer neuroleptics) should be performed to substantiate these findings. 相似文献
22.
23.
Tyler Mark Pierson MD PhD Carsten G. Bonnemann MD Richard S. Finkel MD Nancy Bunin MD Gihan I. Tennekoon MD 《Annals of neurology》2008,64(5):583-587
Three siblings with metachromatic leukodystrophy underwent umbilical cord blood transplantation at different stages of disease. Neuroimaging, nerve conduction studies, neurological examinations, and neuropsychological examinations were used to measure outcome over 2 years. After transplant, the oldest sibling experienced disease progression. His two siblings had near or total resolution of signal abnormalities on neuroimaging. Their neuropsychological testing remained stable, and nerve conduction studies have shown improvement. These results indicate pretransplantation neurological examinations may be the most significant predictor of outcome after transplant. To our knowledge, this report is the first to document neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplantation. Ann Neurol 2008;64:583–587 相似文献
24.
N. C. Voermans C. G. Bonnemann B. C. J. Hamel H. Jungbluth B. G. van Engelen 《Journal of neurology》2009,256(1):13-27
Congenital and adultonset inherited myopathies represent a wide spectrum of syndromes. Classification is based upon clinical
features and biochemical and genetic defects. Joint hypermobility is one of the distinctive clinical features that has often
been underrecognized so far. We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital
muscular dystrophy, Bethlem myopathy, congenital muscular dystrophy with joint hyperlaxity, multi-minicore disease, central
core disease, and limb girdle muscular dystrophy 2E with joint hyperlaxity and contractures. We shortly discuss a second group
of disorders characterised by both muscular features and joint hypermobility: the inherited disorders of connective tissue
Ehlers-Danlos syndrome and Marfan syndrome. Furthermore, we will briefly discuss the extent and pattern of joint hypermobility
in these myopathies and connective tissue disorders and propose two grading scales commonly used to score the severity of
joint hypermobility. We will conclude focusing on the various molecules involved in these disorders and on their role and
interactions in muscle and tendon, with a view to further elucidate the pathophysiology of combined hypermobility and myopathy.
Hopefully, this review will contribute to enhanced recognition of joint hypermobility and thus be of aid in differential diagnosis. 相似文献
25.
308 patients with intertrochanteric and subtrochanteric femoral fractures were treated by Ender's method of intramedullary fixation from June 1975 to September 1978. The average age was 78,4 years, the mortality rate was 16,3 per cent. There was no infection of the bone and no non-union. In 78 per cent of re-examined patients the hip function was good and very good. The treatment of old patients with this operation is the method of choice. 相似文献
26.
Wang CH Dowling JJ North K Schroth MK Sejersen T Shapiro F Bellini J Weiss H Guillet M Amburgey K Apkon S Bertini E Bonnemann C Clarke N Connolly AM Estournet-Mathiaud B Fitzgerald D Florence JM Gee R Gurgel-Giannetti J Glanzman AM Hofmeister B Jungbluth H Koumbourlis AC Laing NG Main M Morrison LA Munns C Rose K Schuler PM Sewry C Storhaug K Vainzof M Yuan N 《Journal of child neurology》2012,27(3):363-382
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome. 相似文献
27.
Valencia CA Rhodenizer D Bhide S Chin E Littlejohn MR Keong LM Rutkowski A Bonnemann C Hegde M 《The Journal of molecular diagnostics : JMD》2012,14(3):233-246
Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders. Panel testing offers the ability to efficiently and cost-effectively screen all of the genes for a particular genetic disorder. We assessed the analytical sensitivity and specificity of two different enrichment technologies, solution-based hybridization and microdroplet-based PCR target enrichment, in conjunction with next-generation sequencing (NGS), to identify mutations in 321 exons representing 12 different genes involved with congenital muscular dystrophies. Congenital muscular dystrophies present diagnostic challenges due to phenotypic variability, lack of standard access to and inherent difficulties with muscle immunohistochemical stains, and a general lack of clinician awareness. NGS results were analyzed across several parameters, including sequencing metrics and genotype concordance with Sanger sequencing. Genotyping data showed that both enrichment technologies produced suitable calls for use in clinical laboratories. However, microdroplet-based PCR target enrichment is more appropriate for a clinical laboratory, due to excellent sequence specificity and uniformity, reproducibility, high coverage of the target exons, and the ability to distinguish the active gene versus known pseudogenes. Regardless of the method, exons with highly repetitive and high GC regions are not well enriched and require Sanger sequencing for completeness. Our study demonstrates the successful application of targeted sequencing in conjunction with NGS to screen for mutations in hundreds of exons in a genetically heterogeneous human disorder. 相似文献
28.
Wang CH Bonnemann CG Rutkowski A Sejersen T Bellini J Battista V Florence JM Schara U Schuler PM Wahbi K Aloysius A Bash RO Béroud C Bertini E Bushby K Cohn RD Connolly AM Deconinck N Desguerre I Eagle M Estournet-Mathiaud B Ferreiro A Fujak A Goemans N Iannaccone ST Jouinot P Main M Melacini P Mueller-Felber W Muntoni F Nelson LL Rahbek J Quijano-Roy S Sewry C Storhaug K Simonds A Tseng B Vajsar J Vianello A Zeller R;International Standard of Care Committee for Congenital Muscular Dystrophy 《Journal of child neurology》2010,25(12):1559-1581
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee. 相似文献
29.
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
下载免费PDF全文
![点击此处可从《American journal of medical genetics. Part A》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Adeline Vanderver Davide Tonduti Ilana Kahn Johanna Schmidt Livija Medne Jodie Vento Kimberly A. Chapman Brendan Lanpher Phillip Pearl Andrea Gropman Charles Lourenco John‐Steven Bamforth Cynthia Sharpe Mercédes Pineda Jens Schallner Olaf Bodamer Simona Orcesi Saskia A. J. Lesnik Oberstein Erik A. Sistermans Helger G. Yntema Carsten Bonnemann Amy T. Waldman Marjo S. van der Knaap 《American journal of medical genetics. Part A》2014,164(3):627-633
30.
Summary We report three cases of alloplastic replacement of the femur and its adjacent joints. The indications and operative technique are described. The femoral shaft of polyethylene can be manufactured within a short time and may be individually adapted to standard replacements of the hip and knee. The operation may be performed even on older patients, it preserves the limb and allows early mobilisation with full weight bearing.
Dedicated Prof. Dr. A. N. Witt on his 65th birthday 相似文献
Zusammenfassung Anhand von drei Fällen wird über den alloplastischen Ersatz des Femur und seiner angrenzenden Gelenke berichtet. Die Indikationen und das operative Vorgehen werden aufgezeigt. Der Schaftteil aus Polyaethylen kann kurzfristig nach Maß angefertigt und individuell an standardisierte Hüft- oder Kniegelenkendoprothesen angepaßt werden. Der operative Eingriff ist auch bei älteren Patienten vertretbar, erhält die Extremität und ermöglicht frühzeitige Belastbarkeit.
Dedicated Prof. Dr. A. N. Witt on his 65th birthday 相似文献