Homogeneous Sample with Uner Tan Syndrome--论文代写范文精选

  参与者被扫描使用磁共振成像(MRI)测量大脑区域结构。对参与者的大脑进行扫描。区域的大脑和小脑追踪在日冕部分,不包括小脑蚓体,采取三个测量的平均值。下面的report代写范文进行研究。

ABSTRACT 
  Participants 
  The UTS patients (n = 6; five consistently QL plus one with transition from QL to ataxic bipedal locomotion, BL) were recruited from a family with 17 consanguineous siblings resident in a small village near Iskenderun, in Southern Turkey (Tan, 2005). The group consisted of two men and four women, ranging in age from 29 to 40 years. None had any school experience or literacy. One woman was ambidextrous, two women were left-handed, two women and one man were right-handed, according to the hand used for everyday activities. Informed and written consent was obtained from the father on behalf of all of the patients. The study was approved by the ethics committee of the Medical School, Cukurova University, Adana, Turkey, in accordance with the Helsinki declaration.

  Wechsler adult intelligence scale revised (WAIS-R) 
  The cognitive ability was assessed using the Turkish version of the Wechsler Adult Intelligence Scale-Revised (WAIS-R) (Epir & Iskir, 1972), which was standardized on a sample of 1880 adult Americans (Wechsler, 1981). This test has high reliability and was considered to be a core intelligence test in clinical practice. The raw scores were converted to standard scores, which were then converted to IQ scores (Wechsler, 1981). The raw scores were labeled borderline for 5 and below, low average for 6-7, average for 8-11, high average for 12-13, superior for 14-15, and very superior for 16 and up. IQ scores are classified as follows: above 130 superior or gifted, 120-129 very high, 110-119 bright normal, 90-109 average, 85-89 low average, 70-84 borderline cognitive ability, 50-69 intellectual disability, 35-49 moderate intellectual disability, 20-34 severe intellectual disability, and below 20 to 25 profound intellectual disability.

  Magnetic resonance imaging (MRI) 
  The participants were scanned using magnetic resonance imaging (MRI) to measure the areas of the cerebro-cerebellar structures. Briefly, the participants’ brains were scanned using a Siemens 1.5 T MRI scanner with a standard head coil and a tilted T1-weighted coronal and sagittal sequence. The cerebro-cerebellar regions were traced manually three times by a radiologist, who was unaware of the clinical data and diagnosis. The workstation from Sun Microsystems Inc. Mountain View CA USA, and commercially available software (Magic View 1000) were utilized in the measuring process. Total areas (mm2) of the cerebellar vermis and corpus callosum were measured on the sagittal section, whereas the areas of the cerebrum and cerebellum were traced on the coronal sections, excluding the vermis, cerebellar pedunculi, and the fourth ventricle. The areas of the frontal, parietal, and temporal cortices, thalamus, gyrus cingulatus, and basal ganglia were measured on the coronal sections, taking the average of three measurements.

  International Cooperative Ataxia Rating Scale (ICARS) 
  As a standard method, ICARS is frequently used to evaluate the cerebellar ataxia symptoms on a semi-quantitative scale with high inter-rater reliablility, test-retest reliability, and internal consistency. The semi-quantitative 100-point ICARS consists of four subscales: posture and gait disturbances (items 1-7, 34 points), limb kinetic functions (items 8-14, 52 points), speech disorders (items 15 and 16, 8 points), and oculomotor disorders (items 17-19, 6 points), with a total ataxia score of 100. Higher ICARS scores indicate greater degrees of impairment. The posture/gait and limb-kinetic subscales show the highest reliability (Storey et al., 2004). The internal consistency has been found to be rather high (r = .93) (Schoch et al., 2007).

  Mini Mental State Examination (MMSE) 
  The MMSE standardized for illiterate Turkish adults was used to evaluate the cognitive status of the patients. This test has high inter-rater reliability (r = .99) and validity for the diagnosis of dementia in the Turkish population (Güngen et al., 2002). Scores within the range of 0-23 (out of 30) indicate degrees of mental disturbance. The test attempts to assess the cognitive abilities in five fields: orientation (time, date and location), registration (immediate recall of three words), attention and calculation (count backwards), recall (recall three items), language (naming a pencil and a watch), repetition (repeating a given phrase), and complex commands (drawing shown figure, paper folding, etc.). Individuals with normal cognition score greater than or equal to 25, while 21-24 points indicate mild cognitive impairment, 10-20 points moderate, and scoring less than or equal to 9 points indicates severe cognitive impairment (Mungas, 1991).

  Positron emission tomography (PET) 
  The method for obtaining PET scans was previously described in detail elsewhere (Tan et al., 2008). PET was performed using a dualmodality PET/CT system. The participants received an intravenous injection of 362.6 ± 59.2 MBq 18F-FDG (fluorodeoxyglucose) in a quiet, dimly lit room. Their blood glucose levels prior to injection of FDG were 104 ± 17.7 mg/dl. The mother’s level was 310.0 mg/dl, and she was consequently excluded from the PET scan. PET/CT measurement was started 60 min after the FDG injection. The cranial CT was performed first to correct attenuation and for anatomical localization, and then the PET was performed. PET slices were evaluated visually and semi-quantitatively on the transaxial, coronal, and sagittal planes. Brain glucose utilization was expressed by SUV, the standardized uptake value of FDG.

  Statistical analysis 
  Relations between variables (IQ scores, ICARS, cerebro-cerebellar areas and SUV) were revealed using Pearson two-tailed bivariate correlation analysis, considering the normality and constant variance tests. The power of the performed tests was also evaluated. For the regression coefficients, values of p < .05 were taken as significant. The following software programs were used for statistical analysis and drawings: SPSS 17.0 (IBM, USA), Systat 13 (Version 13.00.05, Chicago, IL), and SigmaPlot 12.5 (Chicago, IL).

  Results 
  All of the patients exhibited the main symptoms of UTS, such as dysarthric speech, intellectual disability, and QL, except the late-onset ataxic BL in one case. Table 1 presents the main characteristics of the patients recruited to this study.

  Cognitive abilities (WAIS-R and MMSE) and ICARS 
  The minimum, maximum, mean, SE, and SDs for WAIS-R, MMSET, and ICARS with their subscales are presented in Table 2. The raw WAIS-R scores were borderline (four and below) for five of the six patients, while the sixth score was average (10). This patient used ataxic bipedal locomotion after habitually walking on all four extremities until adulthood. MMSET in not a measure for intellectual disability but only for cognitive impairment showed severe intellectual disability in four (1/30 to 8/30), and moderate intellectual disability (10/30 and 14/30) in two affected individuals. Age was not significantly associated with ICARS, WAIS-R or MMSE test scores (r = - .31 to +.24, p = .55 to .64).

  Conclusions 
  In the present work, the cognitive abilities, ICARS ataxia scores, MRI-measured cerebrocerebellar areas and their glucose-metabolic activities were subjected to a correlational analysis in a homogeneous group of patients (n = 6) with UTS, living within the same family with 17 consanguineous siblings. A detailed IQ test, WAIS-R, could be predicted from a simple cognition screening method, the MMSE test. These cognitive ability test scores highly correlated with all of the cerebro-cerebellar areas, regional glucose-metabolic activity levels, and ICARS with subscales; there were dynamic intercorrelations among all of these variables. For instance, ICARS, a test to traditionally assess the ataxia level in cerebellar disorders, associated with cognitive tests, the size of the cerebro-cerebellar areas and their glucosemetabolic activities, suggesting that this ataxia score may be indicative not only for the cerebellar disorders, but it may also be related to all brain structures and functions. These dynamic intercorrelations among these variables suggest that the brain may not function in discrete entities, but rather that the human brain may show a collective behavior of neural networks, common to all complex systems. The results are also consistent with notion that the brain is a quantum system, both exhibiting holistic properties (Tarlaci, 2010).(论文代写)

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