Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, ...show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2.
We presented clinical and neuroradiological data of seven children (3 to 12 years of age) with classical galactosemia. All had a typical presentation in neonatal period. Two children had normal development (10 and 12 years-old), four presented developmental delay (10, 7, 4 and 3 years-old), and one showed a dystonic cerebral palsy (kernicterus).
The brain MRI showed the typical involvement of white matter, in five children, and basal ganglia abnormalities in the kernicterus patient. Three patients are homozygous for Q188R mutation and two are compound heterozygous.
We found a positive correlation among developmental delay, white matter involvement and Q188R mutation.
High-energy and nuclear physics experiments need tracking devices with increasing spatial precision and readout speed in the face of ever-higher track densities and increased radiation environments. ...The new generation of hybrid pixel detectors (arrays of silicon diodes bump-bonded to arrays of front-end electronic cells) is the state-of-the-art technology able to meet these challenges. We report on irradiation studies performed on BTeV pixel readout chip prototypes exposed to a 200-MeV proton beam at the Indiana University Cyclotron Facility. A prototype pixel readout chip (preFPIX2) has been developed at Fermilab for collider experiments and implemented in standard 0.25-/spl mu/m CMOS technology following radiation-tolerant design rules. The chip contains a variety of functional blocks (analog front ends, registers, state machines, and digital-to-analog converters). The tests confirm the radiation tolerance to proton total dose up to 87 Mrad of all of these circuits. In addition, nondestructive radiation-induced single-event upsets have been observed in on-chip static registers, and the single-bit upset cross-section has been extensively measured.
The neuropathology of congenital hydrocephalus in SUMS/NP mice was investigated in this study. Hydrocephalus occurred with an incidence of 16.5% and was evident in the form of an enlarged head soon ...after birth. The condition was progressive; affected mice gradually became noticeably smaller than normals, acquired functional disturbances and died before ever breeding. Hydrocephalic mice exhibited enormous dilatation of the lateral ventricles, thinning of the cortex and compression and distortion of the diencephalon and striatum. Examination of the midbrain in these animals revealed that the proximal cerebral aqueduct was diminished in size, occluded or absent. Evidence of its anomalous development was seen as early as day 15 of foetal development. This is in substantial agreement with previous reports on this strain. Although the mechanism by which this occurs is still unknown, abnormal development of the adjoining diencephalon and/or rostral midbrain is likely to be involved.
Serum homocysteine concentrations have been shown to be a sensitive functional indicator of intracellular folate, vitamin B-12, and vitamin B-6 status. Chronic alcoholism is known to interfere with ...one-carbon metabolism, for which the above vitamins serve as coenzymes. In the present study, these vitamins were assessed in 32 chronic alcoholics and 31 healthy volunteers by measuring blood vitamin concentrations as well as serum homocysteine concentrations. In chronic alcoholics, serum pyridoxal 5'-phosphate and red blood cell folate concentrations were significantly lower than in the control subjects (P < 0.001 and P = 0.008, respectively). Mean serum homocysteine was twice as high in chronic alcoholics than in nondrinkers (P < 0.001). Beer consumers had significantly lower concentrations of homocysteine compared with drinkers of wine or spirits (P = 0.05). These results suggest that by interfering with folate or vitamin B-6 metabolism, chronic alcohol intake may impair the disposal of homocysteine through the transmethylation or transsulfuration pathways.
This report presents the results of an operations research project to increase male involvement in family planning in Peru. Two community-based distribution (CBD) programs, PROFAMILIA of Lima and ...CENPROF of Trujillo, Peru, recruited male contraceptive distributors and compared their performance to that of female distributors recruited at the same time. Both programs found it harder to recruit men than women as distributors. Program supervisors, who were women, were less comfortable with men than with other women, even though there were no differences in distributor compliance with program norms. Male distributors were more likely to serve male clients and sell male methods (condoms), while female distributors were more likely to serve female clients and sell female methods (pills). Men sold as much or more total couple-years of protection than did women, and they recruited as many or more new acceptors. Gender was found to exert an impact on method mix independent of other distributor characteristics, such as age, education, marital status, and number of living children. The study suggests that family planning programs can influence method mix and client characteristics by recruiting men as CBD distributors.
Nineteen consecutive patients with suspected occult communicating hydrocephalus were investigated by means of clinical evaluation, neuropsychological testing, isotope cisternography, computed ...tomography scanning, and continuous intracranial pressure monitoring. Semi-quantitative grading systems were used in the evaluation of the clinical, neuropsychological, and cisternographic assessments. Clinical examination, neuropsychological testing, and computed tomography scanning were repeated 3 months after ventriculoperitoneal shunting. All patients showed abnormal intracranial pressure waves and all improved after shunting. There was close correlation between number, peak, and pulse pressures of B waves and the mean intracranial pressure. However, quantification of B waves by means of number, frequency, and amplitude did not help in predicting the degree of clinical improvement postshunting. The most sensitive predictor of favorable response to shunting was enlargement of the temporal horns on computed tomography scan. Furthermore, the size of temporal horns correlated with mean intracranial pressure. There was no correlation between abnormalities on isotope cisternography and clinical improvement.
Cerebral ventricle dilatation secondary to disturbed flow of CSF has been observed as an inheritable trait in a variety of laboratory animals as well as in humans. In few groups, however, has the ...neuropathology been adequately elucidated. In most cases, defective development of the cerebral aqueduct or of the subarachnoid space has been observed. Further study is needed to understand the developmental mechanisms that fail and give rise to hydrocephalus in such models.
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