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991.
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Jonathan Perry David Felce 《Journal of Applied Research in Intellectual Disabilities》1994,7(4):286-311
Outcome data were collected on fourteen, recently provided staffed houses for people with mild, moderate, severe or profound learning disabilities in order to assess the quality of service provided. Quality indicators reflected the quality of the housing provision, social and community integration, social relationships within the houses, resident engagement in activity, developmental progress over time and opportunities for autonomy and choice. The data show that the quality of the houses investigated was broadly similar to that reported for other housing services in British research which has accompanied deinstitutionalisation. Quality levels on many indicators were related to the ability of residents and the data illustrate the difficulty in providing services for people with more severe or profound learning disabilities, which are capable of achieving outcomes comparable with those attained in services for more able residents. This research provides further evidence that the extent of staff support for resident activity is critical to how much residents are able to participate fully in the everyday activities which arise in the conduct of their lives. 相似文献
993.
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations,including p.(Tyr163Cys)
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Kristin E. Hirabayashi Anthony T. Moore Bryce A. Mendelsohn Ryan J. Taft Aditi Chawla Denise Perry Duncan Henry Anne Slavotinek 《American journal of medical genetics. Part A》2018,176(4):997-1000
Congenital sodium diarrhea is a rare and life‐threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz‐Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features. We present a child with congenital sodium diarrhea, cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia who was found to have biallelic mutations in SPINT2. One mutation, c.488A > G, predicting p.(Tyr163Cys), has been previously associated with a syndromic form of congenital sodium diarrhea. The other mutation, c.166_167dupTA, predicting p.(Asn57Thrfs*24) has not previously been reported and is likely a novel pathogenic variant for this disorder. We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. Our patient confirms an association of ocular coloboma with presumed loss of SPINT2 function. 相似文献
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OBJECTIVE: To summarize the literature describing nonneuroleptic treatments of unacceptably disruptive behavior in chronically institutionalized psychiatric patients with mental retardation, autism, organic brain syndrome, and dementia. DATA SOURCES: Relevant articles were identified from a MEDLINE search of the above diagnoses linked with "aggression" and "psychomotor agitation." Additional references were found in the bibliographies of these articles. STUDY SELECTION/DATA EXTRACTION: The studies reviewed were limited to prospective evaluations of nonneuroleptic drug therapy of these behavior disturbances. Case reports, case series, and retrospective studies were excluded. Studies of patients with schizophrenia, affective disorders, and personality disorders were also excluded. DATA SYNTHESIS: Studies of lithium, beta-blockers, carbamazepine, benzodiazepines, and buspirone were adequate for review. As a rule, these studies are hampered by poor design. The lithium studies suggest that mentally retarded patients with behavior disturbances may respond to lithium treatment. The beta-blocker studies suggest improvement in patients with mental retardation, autism, organic brain syndrome, and dementia. Neuroleptic discontinuation or a decrease in dose was possible in some patients. The carbamazepine studies were inconclusive. Carbamazepine should be reserved for patients with concomitant seizure disorders. Benzodiazepines were helpful in treating elderly demented patients. Thus far, buspirone has been evaluated in only a few, poorly designed studies and is not yet recommended for treatment of behavior disturbances. CONCLUSIONS: Legislation has restricted the use of neuroleptics in many patients receiving long-term healthcare. Despite the questionable validity of the studies reviewed, lithium, beta-blockers, carbamazepine, and benzodiazepines may be considered as alternatives to neuroleptics in selected cases. 相似文献
996.
Perry A Maharaj D Ramdass MJ Naraynsingh V 《International journal of clinical practice》2002,56(8):619-619
Rapid decompression of the bladder has been associated with complications such as diuresis, hyperkalaemia, haematuria and hypotension. Although these complications are easily managed and rarely clinically significant, clinicians still practise slow decompression using a 'clamping' technique. Slow decompression using a giving set provides a more convenient and less time-consuming way of achieving this goal. 相似文献
997.
Amifampridine phosphate (Firdapse®) is effective and safe in a phase 3 clinical trial in LEMS
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Shin J Oh MD Natalya Shcherbakova MD Anna Kostera‐Pruszczyk MD PhD Mohammad Alsharabati MD Mazen Dimachkie MD Jose Munoz Blanco MD Thomas Brannagan MD Dragana Lavrnić MD PhD Perry B Shieh MD PhD Christophe Vial MD Andreas Meisel MD Samuel Komoly MD PhD DSc Benedikt Schoser MD Kumaraswamy Sivakumar MD Yuen So MD PhD LEMS Study Group 《Muscle & nerve》2016,53(5):717-725
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