共查询到20条相似文献,搜索用时 0 毫秒
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M Hofmann H Boehmer M Zumbach V Borcea A Grauer C Kasperk P Heilmann R Ziegler P Wahl PP Nawroth 《Canadian Metallurgical Quarterly》1997,122(4):86-90
HISTORY AND CLINICAL FINDINGS: A 43-year-old man was known for 3 years to have diabetes mellitus. For 2 months before admission he had symptoms of hyperglycaemia with polyuria, polydipsia, weight loss, as well as impairment of vision and declining fitness. In addition to bilateral deafness he was clearly of normally proportioned short stature (150 cm). INVESTIGATIONS: The levels of blood sugar (221 mg/dl), HbA1c(10.2%), triglycerides (496 mg/dl) and cholesterol (323 mg/dl) were raised, while the concentration of somatotropic hormone was diminished, both before and after arginine administration. Fundoscopy revealed concentric diminution of the visual fields with left amblyopia. Visual evoked potentials and colour sense testing revealed bilateral optical atrophy, and the audiogram demonstrated deafness. These findings provided the diagnosis of Wolfram syndrome, namely insulin-dependent diabetes mellitus, deafness, optical atrophy and small stature with somatotropic hormone deficiency. TREATMENT AND COURSE: On insulin treatment the metabolic state became normal (HbA1c 7.5%, normal lipid profile). It was decided that the deficiency in somatotropic hormone regulation did not require treatment. CONCLUSION: Cardinal symptoms of the autosomally recessive Wolfram syndrome are insulin-dependent diabetes and optic nerve atrophy. Several types of hormonal abnormalities are associated with it, including a deficiency in the somatotropic axis. To obtain early and adequate hormonal substitution requires extensive endocrinological diagnosis of a disease which frequently becomes manifest in childhood or adolescence. 相似文献
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The history of the education of the retarded, the development and subsequent overuse of institutional programs, and the current emphasis on deinstitutionalization are discussed in relation to social-political movements occurring in the same time periods. The contributions of E. Seguin, A. Binet, H. Goddard, and L. Terman are discussed, moving from an emphasis on education and early development to identification and classification with the use of tests. Genetic differences appeared to be confirmed by early cross-sectional studies, and the concept of the "fixed IQ" influenced attitudes toward retardation and care-giving institutions. The beginning of current emphasis on the modifiability of mental development, deinstitutionalization, and social and medical prevention was signaled by the 1962 report of the President's panel on mental retardation. It is stressed that future programs for the retarded will be influenced by the availability of resources and the presence of innovative, well-trained people dedicated to work with the retarded. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
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Sporozoites of Cryptosporidium parvum were incubated in 1:10 dilutions of immune or non-immune, heat-inactivated lamb serum specimens or serum fractions. The infectivity of treated sporozoites was assessed by inoculating them, per rectum, into five-day-old rats followed by histological examination of their intestines at either three or five days after infection. The infectivity of sporozoites treated with heat-inactivated whole sera was greatly reduced. This neutralisation had both specific and non-specific components. The former was associated with the IgG fraction of hyperimmune serum raised against sporozoites and the latter with a heat-stable, non-dialysable component present in both IgG-depleted hyperimmune serum and uninfected gnotobiotic serum. 相似文献
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We describe a previously unrecognized syndrome in two brothers with short stature, webbed neck, unusual face, moderate malsegmentation of the lumbar spine, and unilateral Legg-Perthes-Calvé type "disease" of the hip. Autosomal recessive inheritance is proposed, although we cannot exclude the possibility of an X-linked recessive or an autosomal dominant condition with germinal mosaicism. 相似文献
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A Battaglia F Gurrieri E Bertini A Bellacosa MG Pomponi M Paravatou-Petsotas S Mazza G Neri 《Canadian Metallurgical Quarterly》1997,48(4):1081-1086
The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region. 相似文献
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1. The pharmacological effects of benzodiazepines are mediated through a class of recognition sites associated with the gamma-aminobutyric acid A receptor. A second class of benzodiazepine binding sites is found in virtually all mammalian peripheral tissues and is therefore called the peripheral type benzodiazepine receptor (PBR). 2. The first section of this review describes the tissue and subcellular distribution of the PBR in mammalian tissues and analyzes its many putative endogenous ligands. 3. The next section deals with the pharmacological, structural and molecular characterization of the PBR that has taken place in the past few years. 4. The final section describes the possible physiological role(s) of the PBR and identifies future work that would help deepen our understanding of the PBR and its function. 相似文献
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A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown. 相似文献
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A new syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis has been described. The family history suggests either an autosomal dominant mode of inheritance with limited expression in females or X-linkage. Other syndromes with similar phenotypes and modes of inheritance are discussed. The need for accurate and complete family histories in cases involving cleft palate and cleft lip/palate is discussed in relation to genetic counselling and recurrent risk estimates. 相似文献
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Described here are clinical, radiological, and morphological studies of two brothers with an apparently previously undescribed mental retardation syndrome. 相似文献
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O Reish RJ Gorlin M Hordinsky EB Rest B Burke SA Berry 《Canadian Metallurgical Quarterly》1997,68(4):386-390
Antagonistic interactions in mixed culture of methanotrophic bacteria Methylomonas methanica 12 and Methylocystis minimus 33 were investigated. The inhibitory action of Mcs. minimus exometabolites against Mm. methanica grown in liquid medium was found to be specific. Ultrafiltration established that the molecular weight of the substance having inhibitory activity lies within the range 2-10 kD. The activity is protease sensitive and relatively stable to heating. Electrophoretic analysis showed that a protein with molecular weight of approximately 8 kD prevailed in Mcs. minimus culture liquid. When Mm. methanica cells were incubated in culture liquid of Mcs. minimus, the sorption of the 8 kD protein by target cells was observed. This suggests that the inhibitory effect may be associated with the 8 kD protein which has properties similar to known bacteriocins. 相似文献
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Uncertainties about causes, expression, and treatment of mental retardation will not yield to simplistic unidimensional models that fail to take into account a vast array of dynamically interacting biological, social, and ecological variables. Issues concerning mental retardation cut across major conceptual dilemmas that have long confronted psychology, biology, and sociology: What is the nature of intelligence? To what extent can environment influence outcome? What level of theoretical construction will produce our most useful bases for social policy? The problems are complex: The solutions can be no less. The time has come to develop a new definition of mental retardation, accompanied by reliable methods to assess and classify children's intellectual and social competence in relation to a valid taxonomy of environments. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
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M Elia SA Musumeci R Ferri C Scuderi S Del Gracco M Bottitta R Michelucci CA Tassinari 《Canadian Metallurgical Quarterly》1998,55(12):1569-1573
OBJECTIVE: To describe a European family with cortical tremor, epilepsy, and mental retardation, the pedigree of which indicates an autosomal dominant inheritance of the disease. DESIGN: Clinical, laboratory, neurophysiological, and neuroimaging data were studied. SETTING: Institute for research on mental retardation. PATIENTS: Two siblings (aged 25 and 28 years) and their 49-year-old mother had postural and action tremor, seizures, and mental retardation. Only tremor was present in the maternal grandmother (aged 68 years). The electroencephalogram showed diffuse spike-and-wave complexes and/or posterior spikes, and a photoparoxysmal response in the 4 subjects. The typical electrophysiologic features of cortical reflex myoclonus, such as giant somatosensory evoked potentials, enhancement of the C-reflex, and jerk-locked premyoclonus spikes, were found in all patients. CONCLUSION: This syndrome may represent a specific form of familial cortical tremor with a benign form of epilepsy and a new genetic model of cortical hyperexcitability inherited with an autosomal dominant mechanism. 相似文献
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AH Zargar BA Laway SR Masoodi AI Wani M Salahuddin 《Canadian Metallurgical Quarterly》1998,34(6):571-576
To determine whether the genetic background of the insulin-producing beta cells of the pancreas contributes to autoimmune diabetes susceptibility, we have used a model of the disease based on transferring spleen cells from nonobese diabetic (NOD) <--> C57BL/6 (B6) embryo aggregation (EA) chimeras into B6 and NOD irradiated mice. Insulitis and diabetes could be induced into both B6 and NOD hosts, albeit with low incidence. Cyclophosphamide (CY) treatment, known to accelerate diabetes in prediabetic NOD mice, was found to increase diabetes incidence up to 50-60% in both B6 and NOD mice reconstituted with chimeric splenocytes, while diabetes did not occur in CY-treated B6 mice reconstituted with B6 splenocytes. We conclude that the genetic make-up of the target organ does not affect the final stage of the pathogenesis of insulin-dependent diabetes mellitus. 相似文献
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Historically, the perceived relation between mental illness and mental retardation has undergone substantial changes. During the past 2 centuries, clinical observations and systematic research addressing these 2 constructs have developed along separate lines. Consequently, the pathogenesis and treatment of psychopathology, emotional disorders, and behavior problems experienced by individuals with mental retardation have not been the purview of mainstream clinical psychology. This article initiates a special section on mental retardation and mental illness to provide up-to-date summaries of various key clinical and research issues regarding this population (i.e., individuals with "dual diagnoses"). (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
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2 health problems of critical size and tragic impact are mental illness and mental retardation. "There are now about 800,000 such patients in this Nation's institutions—600,000 for mental illness and over 200,000 for mental retardation." A 3-fold attack is proposed: (a) Ascertain causes and eradicate them. (b) Strengthen underlying resources of knowledge and of skilled manpower. (c) Strengthen and improve facilities serving the mentally ill and mentally retarded. A national program for mental health is proposed which emphasizes comprehensive community mental health centers, improved care in state mental institutions, and expansion of research activities and increase in professional manpower. A national program to combat mental retardation emphasizing prevention, community services, and research is also proposed. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献