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101.
102.
Watkins LH Sahakian BJ Robertson MM Veale DM Rogers RD Pickard KM Aitken MR Robbins TW 《Psychological medicine》2005,35(4):571-582
BACKGROUND: Cognitive performance was compared in the genetically and neurobiologically related disorders of Tourette's syndrome (TS) and obsessive-compulsive disorder (OCD), in three domains of executive function: planning, decision-making and inhibitory response control. METHOD: Twenty TS patients, twenty OCD patients and a group of age- and IQ-matched normal controls completed psychometric and computerized cognitive tests and psychiatric rating scales. The cognitive tests were well-characterized in terms of their sensitivity to other fronto-striatal disorders, and included pattern and spatial recognition memory, attentional set-shifting, and a Go/No-go set-shifting task, planning, and decision-making. RESULTS: Compared to controls, OCD patients showed selective deficits in pattern recognition memory and slower responding in both pattern and spatial recognition, impaired extra-dimensional shifting on the set-shifting test and impaired reversal of response set on the Go/No-go test. In contrast, TS patients were impaired in spatial recognition memory, extra-dimensional set-shifting, and decision-making. Neither group was impaired in planning. Direct comparisons between the TS and OCD groups revealed significantly different greater deficits for recognition memory latency and Go/No-go reversal for the OCD group, and quality of decision-making for the TS group. CONCLUSIONS: TS and OCD show both differences (recognition memory, decision-making) and similarities (set-shifting) in selective profiles of cognitive function. Specific set-shifting deficits in the OCD group contrasted with their intact performance on other tests of executive function, such as planning and decision-making, and suggested only limited involvement of frontal lobe dysfunction, possibly consistent with OCD symptomatology. 相似文献
103.
Natalie M. Gallant Kathryn E. Singh Candida Brown Virginia Kimonis Eric A. Muller II 《American journal of medical genetics. Part A》2019,179(3):498-502
ALG11‐Congenital Disorder of Glycosylation (ALG11‐CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11‐CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Their fibroblasts synthesized truncated precursor glycan structures, consistent with ALG11‐CDG, while also showing hypoglycosylation of a novel biomarker, GP130. Surprisingly, one patient presented with normal transferrin glycosylation profile, a feature that has not been reported previously in patients with ALG11‐CDG. Together, our data expand the clinical and mutational spectrum of ALG11‐CDG. 相似文献
104.
105.
Gloyn AL Reimann F Girard C Edghill EL Proks P Pearson ER Temple IK Mackay DJ Shield JP Freedenberg D Noyes K Ellard S Ashcroft FM Gribble FM Hattersley AT 《Human molecular genetics》2005,14(7):925-934
Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel (K(ATP)), are the commonest cause of permanent neonatal diabetes (PNDM). In addition to diabetes, some KCNJ11 mutations also result in marked developmental delay and epilepsy. These mutations are more severe on functional characterization. We investigated whether mutations in KCNJ11 could also give rise to TNDM. We identified the three novel heterozygous mutations (G53S, G53R, I182V) in three of 11 probands with clinically defined TNDM, who did not have chromosome 6q24 abnormalities. The mutations co-segregated with diabetes within families and were not found in 100 controls. All probands had insulin-treated diabetes diagnosed in the first 4 months and went into remission by 7-14 months. Functional characterization of the TNDM associated mutations was performed by expressing the mutated Kir6.2 with SUR1 in Xenopus laevis oocytes. All three heterozygous mutations resulted in a reduction in the sensitivity to ATP when compared with wild-type (IC(50) approximately 30 versus approximately 7 microM, P-value for is all <0.01); however, this was less profoundly reduced than with the PNDM associated mutations. In conclusion, mutations in KCNJ11 are the first genetic cause for remitting as well as permanent diabetes. This suggests that a fixed ion channel abnormality can result in a fluctuating glycaemic phenotype. The multiple phenotypes associated with activating KCNJ11 mutations may reflect their severity in vitro. 相似文献
106.
Changing and sustaining medical students' knowledge, skills, and attitudes about patient safety and medical fallibility. 总被引:2,自引:0,他引:2
Wendy S Madigosky Linda A Headrick Kathryn Nelson Karen R Cox Timothy Anderson 《Academic medicine》2006,81(1):94-101
PURPOSE: To study the effects of a patient safety and medical fallibility curriculum on second-year medical students at the University of Missouri-Columbia School of Medicine in 2003-2004. METHOD: Students completed a knowledge, skills, and attitudes questionnaire before the curriculum, after the final learning experience, and one year later. A 95% confidence interval (CI) for paired differences assessed change over time. At one year, students also responded to items about their use of the curriculum, error reporting, and disclosure experiences. RESULTS: Fifty three of 92 students (55%) completed the questionnaire at all three assessment points. Students' eight items and the calculated knowledge score improved after the curriculum but only seven of these improvements were sustained one year. Responses to seven items did not change and five changed in an undesired direction after the curriculum and/or after one year. Seventy two students completed the self-reported behavior questions at one year. More than half reported using what they learned in the curriculum. Although 76% of students reported observing an error, 71% of these disclosed an error to their peers, 56% to a resident, and 46% to faculty. Only 7% reported an error using our electronic error reporting system. CONCLUSIONS: The curriculum led to changes in second-year medical students' knowledge, skills, and attitudes, but not all of the changes were sustained at one year, were in the desired direction, or were supported by their self-reported behaviors. The extent to which other informal or hidden curriculum experiences reversed the gains and affected the changes at one year is unknown. 相似文献
107.
Among women who habitually miscarried (two or more miscarriages) we observed a modest association for increased risk of miscarriage of first pregnancies in those with younger (especially less than or equal to 11 years) and older (greater than or equal to 16 years) menarcheal age (quadratic G2 = 3.49, P = 0.062). No associations of menarcheal age with first pregnancy miscarriage were observed when analysed by age at first pregnancy, or with pregnancy number among women with only one miscarriage. Unusually early or late menarcheal age appears to increase the risk of miscarriage of the first pregnancy but only among women who will go on to habitually miscarry. 相似文献
108.
109.
Anders Pettersson Kathryn Gradin Thomas Hedner Bengt Persson 《Naunyn-Schmiedeberg's archives of pharmacology》1985,329(4):394-397
Summary Ketanserin is a new antihypertensive agent with affinity to serotonin (5-HT)2 receptors and at higher concentrations also to
1-adrenoceptors. The present study was designed to evaluate the relative functional importance of the antagonism of
1-adrenoreceptors and 5-HT2-receptors in the antihypertensive mechanism of action of ketanserin and analogues after acute administration. In the spontaneously hypertensive rat, ketanserin and the two ketanserin analogues, R56413 and R55667 (which have relatively weaker -adrenolytic properties) were studied with regard to their ability to reduce the blood pressure after acute administration in the conscious rat and their ability to shift the dose response curves for 5-HT and phenylephrine in the pithed rat. The agents tested reduced the blood pressure only in a dose range where they blocked
1-adrenoceptors and there was a striking correlation between the degree of hypotension and the degree of inhibition of the phenylephrine induced pressor responses. 5-HT2-receptor blockade alone did not influence basal blood pressure. However, following pretreatment with R55667 in a low dose the blood pressure reduction to prazosin was enhanced.It is concluded that following acute administration in the rat the major portion of the antihypertensive response to ketanserin is due to an
1-adrenoceptor blockade but that the 5-HT2-receptor blockade contributes.Abbreviations 5-HT
5-hydroxytryptamine
- SHR
spontaneously hypertensive rat
- SNS
sympathetic nervous stimulation 相似文献
110.
Roberts Amanda Jellicoe Mark Fox Kathryn 《Advances in health sciences education : theory and practice》2022,27(1):7-21
Advances in Health Sciences Education - Feedback uptake relies on interactions between learners and educators Winstone (Educ Psychol 52: 17–37, 2017). Feedback that coaches using a... 相似文献