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101.
102.
Gilbert Thomas-Black MBBS PhD Daniel R. Altmann PhD Harry Crook MSc Nita Solanky PhD Ferran Prados Carrasco PhD Marco Battiston PhD Francesco Grussu PhD Marios C. Yiannakas PhD Baris Kanber PhD Jasleen K. Jolly PhD Jon Brett BSc Susan M. Downes MB ChB MD Marni Moran MA Ping K. Chan PhD Emmanuel Adewunmi BSc Claudia A.M. Gandini Wheeler-Kingshott PhD Andrea H. Németh MBBS DPhil Richard Festenstein MBBS PhD Fion Bremner MBBS PhD Paola Giunti MD PhD 《Movement disorders》2023,38(6):959-969
Background
Optic neuropathy is a near ubiquitous feature of Friedreich's ataxia (FRDA). Previous studies have examined varying aspects of the anterior and posterior visual pathways but none so far have comprehensively evaluated the heterogeneity of degeneration across different areas of the retina, changes to the macula layers and combined these with volumetric MRI studies of the visual cortex and frataxin level.Methods
We investigated 62 genetically confirmed FRDA patients using an integrated approach as part of an observational cohort study. We included measurement of frataxin protein levels, clinical evaluation of visual and neurological function, optical coherence tomography to determine retinal nerve fibre layer thickness and macular layer volume and volumetric brain MRI.Results
We demonstrate that frataxin level correlates with peripapillary retinal nerve fibre layer thickness and that retinal sectors differ in their degree of degeneration. We also shown that retinal nerve fibre layer is thinner in FRDA patients than controls and that this thinning is influenced by the AAO and GAA1. Furthermore we show that the ganglion cell and inner plexiform layers are affected in FRDA. Our MRI data indicate that there are borderline correlations between retinal layers and areas of the cortex involved in visual processing.Conclusion
Our study demonstrates the uneven distribution of the axonopathy in the retinal nerve fibre layer and highlight the relative sparing of the papillomacular bundle and temporal sectors. We show that thinning of the retinal nerve fibre layer is associated with frataxin levels, supporting the use the two biomarkers in future clinical trials design. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. 相似文献103.
104.
The effect of biofeedback in hypertension. 总被引:1,自引:0,他引:1
The purpose of this study was to determine the effectiveness of biofeedback in the treatment of stages 1 and 2 essential hypertension via meta-analytical methods. A utilization-focused integrative review was limited to adult randomized clinical trials, and study groups were categorized into biofeedback, active control, and inactive control. Both biofeedback and active control treatments resulted in a reduction in systolic blood pressure (SBP) and diastolic blood pressure (DBP). Only biofeedback (with related cognitive therapy and relaxation training) showed a significantly greater reduction in both SBP (6.7 mm Hg) and DBP (4.8 mm Hg) when compared with inactive control treatments. Nurses in practice settings should consider biofeedback therapy for their hypertensive clients. 相似文献
105.
Angiosarcoma of the heart: report of a case in a 9-year-old boy 总被引:1,自引:0,他引:1
E Marni E Pedroni U Magrini P Mariani I Richichi M Viganó 《Medical and pediatric oncology》1983,11(5):336-338
A 9-year-old boy with a myocardiac angiosarcoma is described; the tumor was diagnosed by echocardiography and the boy underwent surgery followed by radio and chemotherapy. Death occurred 5 months after surgery, probably due to abdominal hemorrhage from metastases. The young age of the patient, the acute and reversible hepatic damage, the use of echocardiography for diagnosis and the possible role of the extracorporeal circulation in determining the metastases are emphasized. 相似文献
106.
Sensitivity to reward (STR)-a personality trait firmly rooted in the neurobiology of the mesolimbic dopamine system-has been strongly implicated in the risk for addiction. This construct describes the ability to derive pleasure or reward from natural reinforcers like food, and from pharmacologic rewards like addictive drugs. Recently experts in the field of addiction research have acknowledged that psychomotor stimulant drugs are no longer at the heart of all addictions, and that brain circuits can also be deranged with natural rewards like food. The present study tested a model in which STR was expected to relate positively to overeating, which in turn would be associated with higher body weight in woman aged 25-45 years. As predicted, STR was correlated positively with measures of emotional overeating. Also, overweight woman were significantly more sensitive to reward than those of normal weight. Interestingly, however, the obese woman (Body Mass Index>30) were more anhedonic than the overweight woman (Body Mass Index>25<30). These findings are discussed in the context of neuroadaptations to overactivity of brain reward circuits. Results also indicate that STR may serve as a risk factor for overeating and overweight, especially in cultures such as ours where palatable, calorically-dense food is plentiful. 相似文献
107.
Guigon B Tailla H de la Marnière E Macarez R Bazin S Madzou M 《Journal fran?ais d'ophtalmologie》2004,27(4):392-396
Described by Schaltenbrand (1940), spontaneous intracranial hypotension is an unusual syndrome, sometimes revealed by an abducens nerve palsy motivating the patient to consult emergency ophthalmology services. The Authors report the case of a 50-Year-old Turkish woman who presented with diplopia due to a left abducens nerve palsy. These symptoms were associated with headache and nausea. Brain magnetic resonance imaging demonstrated diffuse pachymeningeal enhancement with gadolinium. A lumbar puncture showed low spinal fluid pressure (6 cm H2O), leading to the diagnosis of palsy by spontaneous intracranial hypotension. First, a classic treatment was prescribed with no result: increased water intake, corticoid therapy, and rest. Then a blood patch consisting of an injection of autologous blood by lumbar puncture between the third and fourth lumbar vertebrae to plug the spontaneous leak of spinal fluid, with success. A review of the literature provides information on the physiopathological mechanism, the clinical and imaging symptoms, and the treatment. 相似文献
108.
Hanrahan LP Anderson HA Busby B Bekkedal M Sieger T Stephenson L Knobeloch L Werner M Imm P Olson J 《Environmental health perspectives》2004,112(14):1434-1439
In this article we describe the development of an information system for environmental childhood cancer surveillance. The Wisconsin Cancer Registry annually receives more than 25,000 incident case reports. Approximately 269 cases per year involve children. Over time, there has been considerable community interest in understanding the role the environment plays as a cause of these cancer cases. Wisconsin's Public Health Information Network (WI-PHIN) is a robust web portal integrating both Health Alert Network and National Electronic Disease Surveillance System components. WI-PHIN is the information technology platform for all public health surveillance programs. Functions include the secure, automated exchange of cancer case data between public health-based and hospital-based cancer registrars; web-based supplemental data entry for environmental exposure confirmation and hypothesis testing; automated data analysis, visualization, and exposure-outcome record linkage; directories of public health and clinical personnel for role-based access control of sensitive surveillance information; public health information dissemination and alerting; and information technology security and critical infrastructure protection. For hypothesis generation, cancer case data are sent electronically to WI-PHIN and populate the integrated data repository. Environmental data are linked and the exposure-disease relationships are explored using statistical tools for ecologic exposure risk assessment. For hypothesis testing, case-control interviews collect exposure histories, including parental employment and residential histories. This information technology approach can thus serve as the basis for building a comprehensive system to assess environmental cancer etiology. 相似文献
109.
An evaluation of neurobehavioral tests used to assess the neurodevelopmental effects of early ammonium perchlorate exposure 总被引:1,自引:0,他引:1
Bekkedal MY Arfsten D Mattie D 《Journal of toxicology and environmental health. Part A》2004,67(8-10):835-844
Perchlorate is an anion known to interfere with normal production of thyroid hormones that are integrally involved in the development of the central nervous system and neurobehavioral capacities. Given the identification of drinking water contamination with perchlorate, there are efforts to investigate the effects of exposure in developing fetuses and children in order to guide the establishment of regulatory standards. Systematic neurobehavioral investigations in animal models have been completed to evaluate neurodevelopmental consequences of exposures at different concentrations in drinking water. However, these investigations have not directly addressed the public concern for increased incidences of childhood attention deficit disorders, autism, and lowered IQs of children in areas with known contamination. Although epidemiological data suggest there is not a relationship between drinking-water perchlorate exposure and these childhood disorders, it may be prudent to use animal models to systematically assess the potential for such problems. Given the behavioral complexity of these problems, an appropriate evaluation will require the use of nontraditional neurobehavioral tests such as operant conditioning tasks of varying levels of complexity, and juvenile rat play. Such tests will provide a more direct evaluation of the potential for attention deficits, autism, and lowered IQ scores related to thyroid hormone disruption due to early perchlorate exposure. 相似文献
110.