Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5.
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Biomedical subjects
Publications and source records attributed to M A Knight.
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We report our observations in an Australian family with spinocerebellar ataxia type 14 (SCA 14). We describe a novel mutation in exon 5 of the PRKCG gene, altering a highly conserved cysteine to a phenylalanine at codon 150, and record the detailed clinical observations in six affected family members.
The protein kinase C gamma (PKCgamma) gene is mutated in spinocerebellar ataxia type 14 (SCA14). In this study, we investigated the effects of two SCA14 missense mutations, G118D and C150F, on PKCgamma function. We found that these mutations increase the intrinsic activity of PKCgamma. Direct visualization of labelled PKCgamma in living cells demonstrates that the mutant protein translocates more rapidly to selected regions of the plasma membrane in response to Ca2+ influx. These results point to specific alterations in mutant PKCgamma function that could lead to the selective neuronal degeneration of SCA14.
A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more decades of disease duration. Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied.
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Mutations in the presenilin 1 (PS1) gene are responsible for approximately 50% of early onset autosomal-dominant Alzheimer's disease cases. A PCR based mutation detection method, chemical cleavage of mismatch, was used to detect a novel PS1 mutation in the coding sequence of the PS1 gene. Sequencing confirmed a T to C transition altering a leucine to proline at codon 219 of the PS1 gene. This is a novel mutation in exon 7 of the PS1 gene occurring outside the transmembrane regions of IV and V.
Two studies were conducted to assess whether indoor video-assisted cycling influenced a person's quality of exercise (subjectively and quantitatively), compared to indoor cycling alone. In the first study 12 recreationally active subjects completed an initial test of VO2max, and three randomized trials of cycling at 70% VO2max (35 min.) watching a commercial cycling tape (cycle video), a test pattern displayed on the ergometer screen (blank video), or no video. Subjects' ratings of perceived exertion (RPE) and Affect were recorded, and heart rate and oxygen consumption (VO2) were measured during testing. The second study required 12 different subjects first to complete an assessment of VO2max and then two randomized trials (cycle video and no video) on a cycle ergometer where they freely set the intensity of their own exercise. Measurements of VO2, heart rate, blood lactate, power output, RPE, and Affect were recorded during testing. Results of Exp. 1 indicated that subjects' perceived effort equally between the two conditions, yet reported significantly (p < .05) higher affect at 25 and 35 min. of cycling during the cycle video condition than no video condition. Results of Exp. 2 indicated that despite similar levels of blood lactate, subjects exercised at a significantly higher intensity during the cycle video condition compared to no video condition, with a higher VO2 and heart rate. The data support the use of indoor exercise videos to improve the exercise experience and also to increase the physiological demands of indoor exercise.
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Currently the management of adult victims of violence by general practitioners and accident and emergency departments is reactive, concerned almost exclusively with the management of physical injuries. Professor Jonathan Shepherd outlines some ideas for a more proactive approach on the part of doctors to improve the protection and support of vulnerable people; to deal with psychological sequelae; to take the responsibility of making an official complaint to the police away from seriously injured people, who are unable to give or withhold consent to disclosure; and to prevent assailants inflicting further injuries. We asked a sociologist, a psychiatrist, a moral philosopher, and a police surgeon for their comments.
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Three needleless systems were compared for general usability and cost. A closed, one-piece, nonmechanical unit was chosen as it proved safe in both peripheral and central lines, required minimal inservicing and yielded significant cost savings.
The comparative incidence of DCS in women has been debated for years. Diving log data from the Naval Diving and Salvage Training Center (NDSTC), Panama City, FL, demonstrate that there is no increased risk of DCS among Navy female divers compared to their male counterparts. Twenty-eight female students were compared to their 487 male classmates on 878 air and helium-oxygen dives between 4.64 and 10.10 ATA (120 to 300 fsw). None of the women experienced DCS while 8 men developed DCS symptoms. The total duration of the dives ranged from 8 min to 2 h and 6 min; bottom times were less than 20 min. Theoretical inert gas supersaturation on these profiles are commensurate with those experienced on 40- to 60-min sport scuba dives.
The distribution of the antigen localized by monoclonal antibody LICR-LON-E36 has been studied by means of light and electron microscopical immunocytochemical procedures on resin-embedded pituitaries from male and female rats. Using both immunoperoxidase and immunogold labeling techniques, the localization of LICR-LON-E36 has been compared with that obtained with antibodies against the beta subunit of rat luteinizing hormone (beta LH) and human follicle stimulating hormone (beta FSH), porcine adrenocroticotropic hormone (ACTH) and rat S-100. LICR-LON-E36 is localized in a portion of beta LH-containing cells in female rat pituitaries and where present both antigens are localized within the same storage granules. LICR-LON-E36 is rarely detectable within beta LH-containing cells of male rat pituitaries that also stain positively with anti-beta FSH antibodies. ACTH and S-100 were localized within different cell populations.
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A precise understanding of the role of the social worker in rural mental health services is necessary to ensure the adequate training of workers destined for this setting. The authors have conducted a survey of mental health staff in one rural area, examining the interrelationships among such factors as education, perceived levels of knowledge, and clinical functions.
Partial hospitalization and other services along the continuum of ambulatory mental healthcare are rapidly gaining acceptance as attractive alternatives to inpatient treatment. To assure continued development of high caliber programs, leaders of the partial hospital field have been working to develop quality indicators and outcomes measures specifically tailored to the unique aspects of ambulatory care. The quality domains and indicators outlined below are based upon the principles of effectiveness, efficiency, satisfaction and viability that provide foundations for this treatment modality.