Identification of a gene that causes primary open angle glaucoma

Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies.     

A new actigraph for long-term registration of the duration andintensity of tremor and movement

Actigraphy, the long-term measurement of human movement with a small solid state recorder, is gaining acceptance as a useful method in many research fields. Currently available actigraphs assess or estimate the movement duration per time interval. However, the output gives no information on movement type or intensity, and cannot be used in subjects suffering from tremor. The present paper describes a new type of actigraph, that has been developed primarily for the long-term evaluation of motor symptoms in Parkinson patients. The device is the first to discriminate tremor from other movements and to assess both duration and intensity of the two types of movement. It is based on a Motorola 68HC805B6 microcontroller and contains: an accelerometer, programmable gain stages, programmable low- and highpass filters, a programmable level comparator, a peak detector, interface circuits, a real time clock, data storage, and control circuitry. The micro-controller performs a period amplitude sequence analysis (PASA) on the conditioned accelerometer signal, and stores four output variables (tremor duration, tremor amplitude, movement duration, and movement amplitude) at the end of programmable time intervals. The analysis of fluctuations in the motor symptoms of, e.g., Parkinson patients using this actigraph can be of great help in the pharmacological management of symptoms     

Modeling statistical dopant fluctuations in MOS transistors

The impact of statistical dopant fluctuations on the threshold voltage V_T and device performance of silicon MOSFET's is investigated by means of analytical and numerical modeling. A new analytical model describing dopant fluctuations in the active device area enables the derivation of the standard deviation, σV_T , of the threshold voltage distribution for arbitrary channel doping profiles. Using the MINIMOS device simulator to extend the analytical approach, it is found that σV_T, can be properly derived from two-dimensional (2-D) or three-dimensional (3-D) simulations using a relatively coarse simulation grid. Evaluating the threshold voltage shift arising from dopant fluctuations, on the other hand, calls for full 3-D simulations with a numerical grid that is sufficiently refined to represent the discrete nature of the dopant distribution. The average V_T-shift is found to be positive for long, narrow devices, and negative for short, wide devices. The fast 2-D MINIMOS modeling of dopant fluctuations enables an extensive statistical analysis of the intrinsic spreading in a large set of compact model parameters for state-of-the-art CMOS technology. It is predicted that V_T-variations due to dopant fluctuations become unacceptably large in CMOS generations of 0.18 μm and beyond when the present scaling scenarios are pursued. Parameter variations can be drastically reduced by using alternative device designs with ground-plane channel profiles     

Results of selective venous site-specific catheterization in occult C-cell carcinoma of the thyroid gland

Ileal pouch-anal anastomosis is a surgical procedure used for the treatment of people with chronic ulcerative colitis and familial adenomatous polyposis. The surgery is intended to preserve anal sphincter function, but it carries a risk for certain complications, including pouchitis and anastomotic stricture. The purpose of this article is to review the clinical manifestations, causes, and treatment of anastomotic stricture and pouchitis after ileal pouch-anal anastomosis.     

Near Shannon limit performance of low density parity check codes

The authors report the empirical performance of Gallager's low density parity check codes on Gaussian channels. They show that performance substantially better than that of standard convolutional and concatenated codes can be achieved; indeed the performance is almost as close to the Shannon limit as that of turbo codes     

Effect of sinus surgery on pulmonary function in patients with cystic fibrosis

The rare case of neurilemmoma of the larynx was presented. The difficulties in histopathologic diagnosis of such tumors were emphasized. The tumor was removed by surgery from external approach.     

The validity of new memory complaints in the elderly

OBJECTIVE: To determine the validity of new subjective memory complaints (MCs) from individuals who previously, when without dementia, denied having MCs. DESIGN: Prospective cohort. SETTING: Longitudinal, community-based study of aging and dementia. PATIENTS: One hundred thirty-three community-dwelling elderly individuals who were part of a registry for the study of conditions related to aging in North Manhattan, NY. Patients were selected if they were initially without dementia and had completed at least 2 successive annual clinical and neuropsychological evaluations and provided their own medical history. MAIN OUTCOME MEASURES: Performance on memory tests--the Buschke Selective Reminding Test and a visual memory task--and global performance on a neuropsychological test battery and clinical evaluation, by which questionable dementia or dementia was diagnosed according to a well-defined paradigm. RESULTS: Fifty-three subjects with MCs at the initial evaluation performed no worse on the memory test than the 80 subjects who denied MCs initially. There was a weak association between MCs and the diagnosis of questionable dementia at baseline (P = .04), but this was nonsignificant after adjusting for age and education. At 1-year follow-up, 21 of the 80 without baseline MCs now reported MCs. At the follow-up evaluation, these 21 subjects performed significantly worse on the memory tests, were 5 times more likely to have significant cognitive impairment, and had shown significantly greater decline over the preceding year on several of the cognitive measures than the 59 who continued to deny MCs. CONCLUSION: New MCs from individuals, who when without dementia recently denied MCs, may suggest the presence of significant impairment of memory or cognition.     

The development and creating of new-generation full-scope simulator and new technology of simulation

Set out is a brief account of the two major accomplishments by the Russian Research Center ‘Kurchatov Institute’ in creating the full-scope simulators and mathematical modeling technologies. Presented are the basic specifications of one of the world's largest simulators—the full-scope simulator for the Leningrad NPP which is the new-generation one. Owing to the extended modeling scope accomplished is the possibility of training personnel to act in terms of not only the design-basis but rather beyond the design-basis accidents. To minimize the expenditures for creating the simulators, analyzers and other modeling and control means, the RRC ‘Kurchatov Institute' has created the unique technology of mathmodeling automation. Thanks to its versatility and application at its creation of the ELUD philosophy (easy to learn, use and develop) good use is made of this technology both in nuclear and thermal power engineering, as well as in gas industry.     

Hand, space and attentional asymmetries in goal-directed manual aiming

Two experiments were conducted to explore the interaction of the two cerebral hemispheres in motor control, by examining hand, space and attentional asymmetries in goal-directed aiming. In Experiment 1, right-handed subjects moved to targets more quickly with their right hand than their left hand. In addition, each hand was faster when moving in its own hemispace. Although in a control condition, movements were initiated more quickly with the left hand, visual distractors disrupted left hand performance more than right hand performance. For contralateral aiming, ipsilateral distractors caused the greatest interference. In Experiment 2, when targets and distractors were all presented at the midline, a right hand advantage was found for movement time along with a left hand advantage for reaction time, independent of target and distractor location. Our findings are discussed in terms of a right hemisphere role in movement preparation and the allocation of attention in space, and greater left hemisphere involvement in movement execution.