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91.
An analysis of autism in fifty males with the fragile X syndrome 总被引:6,自引:0,他引:6
R J Hagerman A W Jackson A Levitas B Rimland M Braden 《American journal of medical genetics》1986,23(1-2):359-374
Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin-Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: 1) the DSM III diagnostic criteria for Infantile Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty-one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only. Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination. 相似文献
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Flora Tassone John Adams Elizabeth M Berry-Kravis Susannah S Cohen Alfredo Brusco Maureen A Leehey Lexin Li Randi J Hagerman Paul J Hagerman 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2007,(4):566-569
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurological disorder among carriers of premutation CGG-repeat expansions within the FMR1 gene. Principal features of FXTAS include progressive action tremor and gait ataxia, with associated features of parkinsonism, peripheral neuropathy, dysautonomia, and cognitive decline. Although both clinical and neuropathologic features of FXTAS are known to be highly associated with CGG repeat length, the relationship between repeat length and age-of-onset is not known. To address this issue, the ages of onset of action tremor and gait ataxia were documented by history for 93 male carriers. For this cohort, the mean ages of onset were 62.6 +/- 8.1 years (range, 39-78 years) for tremor, and 63.6 +/- 7.3 years (range, 47-78 years) for ataxia; the mean CGG repeat number was 88.5 +/- 14 (range, 60-133). Analysis of the relationship between clinical onset and molecular measures revealed significant correlations between CGG repeat number and onset of both tremor (P = 0.001) and ataxia (P = 0.002), as well as overall onset (P < 0.0001). Our findings indicate that the CGG repeat number is a potential predictor of the age of onset of core motor features of FXTAS. 相似文献
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Transcription of the FMR1 gene in individuals with fragile X syndrome. 总被引:10,自引:0,他引:10
F Tassone R J Hagerman W D Chamberlain P J Hagerman 《American journal of medical genetics》2000,97(3):195-203
97.
Louise Staley-Gane Linda Flynn Kari Neitzel Amy Cronister Randi J. Hagerman 《American journal of medical genetics. Part A》1996,64(2):382-387
The basic components of genetic counseling are informational and educational. The patient's cognitive and emotional presentation and the needs and concerns of the patient are seldom addressed. Females who carry the FMR1 pre and full gene mutation may present with learning, cognitive, and/or emotional difficulties and family members of those diagnosed with fragile X syndrome have ongoing needs and concerns. As a result, genetic counseling for fragile X syndrome offers a unique opportunity within which to expand the role of the genetic counselor. Q-methodology, by using the q-sort, is centered on the family to reproduce the needs and concerns that are consistent with the patient's own experience. Used for sociological research, the q-methodology with specially constructed q-sort items is easily adapted to the genetic counseling setting © 1995 Flynn & Gane and can be used for directly assessing the patient's needs and concerns. For our pilot study, 16 items were physically sorted and ranked interdependently by the patient (subject). Thirty-seven patients (29 females and 8 males) participated in our pilot study. Preliminary results show that the age of the proband, length of time of the diagnosis, and parental sex at the time the q-sort is administered impacts the ranking of items thus differentiating needs and concerns. Results have shown that specific items are missing from the lives of subjects. From the information obtained from the q-sort, the genetic counselor can identify needs and concerns of the patient and combine this information with the clinical presentation to work with the patient in a more effective manner. © 1996 Wiley-Liss, Inc. 相似文献
98.
Hunsaker MR Greco CM Spath MA Smits AP Navarro CS Tassone F Kros JM Severijnen LA Berry-Kravis EM Berman RF Hagerman PJ Willemsen R Hagerman RJ Hukema RK 《Acta neuropathologica》2011,122(4):467-479
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with intention tremor and gait ataxia, but with a growing list of co-morbid medical conditions including hypothyroidism, hypertension, peripheral neuropathy, and cognitive decline. The pathological hallmark of FXTAS is the presence of intranuclear inclusions in both neurons and astroglia. However, it is unknown to what extent such inclusions are present outside the central nervous system (CNS). To address this issue, we surveyed non-CNS organs in ten human cases with FXTAS and in a CGG repeat knock-in (CGG KI) mouse model known to possess neuronal and astroglial inclusions. We find inclusions in multiple tissues from FXTAS cases and CGG KI mice, including pancreas, thyroid, adrenal gland, gastrointestinal, pituitary gland, pineal gland, heart, and mitral valve, as well as throughout the associated autonomic ganglia. Inclusions were observed in the testes, epididymis, and kidney of FXTAS cases, but were not observed in mice. These observations demonstrate extensive involvement of the peripheral nervous system and systemic organs. The finding of intranuclear inclusions in non-CNS somatic organ systems, throughout the PNS, and in the enteric nervous system of both FXTAS cases as well as CGG KI mice suggests that these tissues may serve as potential sites to evaluate early intervention strategies or be used as diagnostic factors. 相似文献
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Alessandra da Cunha Marcia A Michelin Eddie FC Murta 《World journal of clinical oncology》2014,5(3):495-502
Breast cancer (BC) is the most common malignant neoplasm and the cause of death by cancer among women worldwide. Its development, including malignancy grade and patient prognosis, is influenced by various mutations that occur in the tumor cell and by the immune system’s status, which has a direct influence on the tumor microenvironment and, consequently, on interactions with non-tumor cells involved in the immunological response. Among the immune response cells, dendritic cells (DCs) play a key role in the induction and maintenance of anti-tumor responses owing to their unique abilities for antigen cross-presentation and promotion of the activation of specific lymphocytes that target neoplasic cells. However, the tumor microenvironment can polarize DCs, transforming them into immunosuppressive regulatory DCs, a tolerogenic phenotype which limits the activity of effector T cells and supports tumor growth and progression. Various factors and signaling pathways have been implicated in the immunosuppressive functioning of DCs in cancer, and researchers are working on resolving processes that can circumvent tumor escape and developing viable therapeutic interventions to prevent or reverse the expression of immunosuppressive DCs in the tumor microenvironment. A better understanding of the pattern of DC response in patients with BC is fundamental to the development of specific therapeutic approaches to enable DCs to function properly. Various studies examining DCs immunotherapy have demonstrated its great potential for inducing immune responses to specific antigens and thereby reversing immunosuppression and related to clinical response in patients with BC. DC-based immunotherapy research has led to immense scientific advances, both in our understanding of the anti-tumor immune response and for the treatment of these patients. 相似文献