Hereditary motor and sensory neuropathies. Clinical and molecular genetic aspects

Hereditary motor sensory neuropathies are a heterogeneous group of inherited diseases of the peripheral nerves. In this review the clinical and genetic differences between the sub-groups of this disease will be discussed. Since the discovery of a 1.5 mb duplication on chromosome 17 p11.2-12 in most patients with a hereditary motor sensory neuropathy and a variety of different mutations on chromosomes 1 and X in other patients with a similar disease profile, Dycks' clinical classification needs to be re-evaluated. In this review Dycks' taxonomy of heridihary neuropathies will be compared to a new genetic classification and a relevant diagnostic procedure proposed when a hereditary neuropathy is suspected.     

External-Memory Algorithms for Processing Line Segments in Geographic Information Systems

In the design of algorithms for large-scale applications it is essential to consider the problem of minimizing I/O communication. Geographical information systems (GIS) are good examples of such large-scale applications as they frequently handle huge amounts of spatial data. In this paper we develop efficient external-memory algorithms for a number of important problems involving line segments in the plane, including trapezoid decomposition, batched planar point location, triangulation, red--blue line segment intersection reporting, and general line segment intersection reporting. In GIS systems the first three problems are useful for rendering and modeling, and the latter two are frequently used for overlaying maps and extracting information from them.     

United States Nuclear Regulatory Commission Research Program on molten core debris interactions in the reactor cavity

The NRC's Research Program on Core-Debris/Cavity Interactions comprises two principal elements: (1) an analytical effort focused primarily on development of computer codes needed to predict the potential consequences of risk-significant severe-accident scenarios; and (2) an experimental component to provide insights into the relevant phenomenological processes and to develop the experimental data base necessary for validation of the codes. The analytical activities at Sandia National Laboratories (SNL) focus primarily on refinement and validation of the CORCON and VANESA codes. Two major experimental activities are also based at SNL: (1) the large-scale SURC tests address the thermal-hydraulic phenomena in the cavity as well as aerosol release associated with prototypical core-melt materials in various types of concrete crucibles, while (2) the WITCH and GHOST experiments are concerned with aerosol generation and radionuclide release phenomena. A program of small-scale special-effects tests at Brookhaven National Laboratory (BNL) is coupled to a concomitant model-development and code-validation activity. In addition, measurements are being made at Battelle Columbus Laboratory (BCL) to augment the thermochemical data base needed in the VANESA code to permit refined radiological source-term predictions. The current scope and status of this research is reviewed.     

Milk production, health, behavior, and endocrine responses of cows exposed to electrical current during milking

Six cows were exposed during milkings to electrical current to assess its effects on behavior, health, milking performance, and endocrine responses. Three treatments (0, 4, and 8 mA) were applied in a changeover design over three consecutive 1-wk periods. A cow received the same current treatment during 14 consecutive milkings, beginning with the evening milking (d 1) and ending with the morning milking (d 8). Treatments began 5 min before milking and continued until milking unit removal. Treatments consisted of 60 Hz square wave current of 5-s duration applied every 30 s from udder to hooves. Milk accumulation curves provided information about milk yields, milking times, peak milk flow rates, and times of peak milk flow. Residual milk yields also were measured. Milk was analyzed for protein, fat, and somatic cells. Blood samples from 60 min before to 60 min after treatment were collected, and oxytocin, prolactin, and cortisol concentrations were measured. Behavioral responses to current decreased with time. Changes of milking performance and milk composition were not significant. Changes of milking related cortisol responses during 8-mA current stimulation were significant. Oxytocin release was delayed during 8-mA treatments. Current treatments did not affect prolactin.     

Life table study of Aedes aegypti (Diptera: Culicidae) in Puerto Rico fed only human blood versus blood plus sugar

Life table studies were performed in 1996 with Aedes aegypti (L.) during the low (cool/dry) and high (hot/rainy) dengue virus transmission seasons in Puerto Rico. Mated adult females from field-collected pupae were placed individually in cages and divided into 2 treatment groups: one was fed only human blood and the other human blood plus a 10% sucrose solution. Survival and number of eggs laid were recorded daily for each female. During both seasons, age specific survivorship was higher for the blood plus sugar group, groups fed only human blood had higher reproductive outputs (mx), and net replacement rates (Ro) for blood only groups were higher than for those fed blood plus sugar. Intrinsic rates of growth (r) were the same for both treatments during the low (cool/dry) transmission season, but higher for the blood-only treatment during the high (hot/rainy) transmission season. Our results indicate that feeding on only human blood provides an evolutionary advantage to Ae. aegypti females in Puerto Rico. These results are similar to those from an earlier study carried out with Ae. aegypti in Thailand; the advantage of feeding on human blood does not seem to be restricted to a particular geographic region. We also found that the benefits associated with human feeding persist through epidemiologically different times of the year. We conclude that feeding on human blood is reproductively beneficial for Ae. aegypti, which may increase their contact with human hosts, and therefore may influence their vectorial capacity for dengue viruses through frequent feeding on blood.     

Limb salvage surgery for widely infiltrating bony sarcomas

OBJECTIVE: To determine whether neoadjuvant chemotherapy and radiotherapy for bony sarcomas extending into soft tissues would allow limb salvage yet maintain local disease control. DESIGN: A prospective cohort study. SETTING: A university-affiliated cancer centre in Alberta. PATIENTS: All patients with potentially curable, widely infiltrating bony sarcomas of the extremity without neurologic deficit, referred to the centre in the 6 years from January 1984 to December 1990. There were 11 patients; 1 did not complete the protocol. The mean follow-up was 24 months. INTERVENTIONS: Adriamycin (doxorubicin) was infused for 3 days at a rate of 30 mg/d. A few days later radiotherapy was given 5 days a week for 10 doses at a rate of 3.0 Gy per dose. Four to 5 weeks later the tumour was excised surgically, with placement of a bone allograft or prosthesis, allowing a 1-cm margin of healthy soft tissue and a 5-cm margin of healthy bone and marrow cavity whenever possible. MAIN OUTCOME MEASURES: Need for limb amputation, infectious complications, recurrence of local or regional disease. RESULTS: One patient underwent amputation after fracture through the tumour site. There were two postoperative infections, one acute and one chronic. All patients had full neurologic function of the distal limb. There was no local or regional recurrence of disease. CONCLUSION: Neoadjuvant chemotherapy followed by radiotherapy and tumour excision provides control of aggressive local bone sarcomas while maintaining limb integrity.     

Psychrotrophic violacein-producing bacteria isolated from Lake Winnipeg,Canada

Violet and purple bacterial pigmentations are uncommon when considering strict aerobes. Here we report discovery of two novel isolates, P102 and P117 from the freshwater Lake Winnipeg, each with violet to deep purple colony colouration. The relationship between pigment production and growth was investigated under different conditions, including a variety of carbon sources, pH, and temperatures. The violet compounds were purified using polar organic solvents, and then structurally characterized via mass spectrometry and nuclear magnetic resonance to be violacein and deoxyviolacein. Strain P117 produced higher concentrations of the darker pigment deoxyviolacein, which resulted in a deeper hue of violet than in cultures of P102. Strain P102, synthesized violacein maximally in liquid rich organic medium at pH 8 and 20 °C, and had 99.3% sequence similarity to the 16S rDNA from Janthinobacterium lividum. Strain P117, related to Massilia violaceinigra sharing 99.2% 16S rDNA sequence similarity, also produced violacein at similar optimal conditions, but developed higher concentrations of pigment at 15 °C. Culture-based methods found that violacein producers composed 0.001% or 0.023% CFU of environmental heterotrophic populations using BG-11 and potato-based media, respectively. Culture-independent high-throughput ribosomal 16S V4 sequencing of environmental DNA was used to detect Gram-negative species known for their production of violacein. Of all bacterial and archaeal sequences present during the fall in littoral waters and sediment of Lake Winnipeg, 5.5% and 6.3%, respectively, belonged to species that have similar pigment, demonstrating the scarcity of violacein producers in this aquatic freshwater system.     

Evidence of successful river spawning by lake trout (Salvelinus namaycush) in the Lower Niagara River,Lake Ontario

Restoration of a wild-produced lake trout Salvelinus namaycush population in Lake Ontario has not been successful despite the adult population often meeting or exceeding restoration targets. Lack of high-quality spawning habitat in Lake Ontario is suggested as one impediment to recruitment of wild lake trout, although the quantity and location of spawning habitat is poorly understood. If high-quality spawning habitat is limited in Lake Ontario, lake trout may be using uncommon spawning locations such as rivers. Anecdotal angler accounts point to the Niagara River as a lake trout spawning location. To better understand the potential of the Niagara River as a spawning location, egg and juvenile fish collections were conducted 12–14 river kilometers from the mouth of the Niagara River from 2010 to 2012; and mature female lake trout with surgically implanted acoustic tags were monitored from 2015 to 2019. Genetic analyses confirmed 60% of collected eggs and 93% of collected post-hatch juvenile fish in the Niagara River were lake trout. Tagged female lake trout returned to the Niagara River over consecutive years during the spawning season. The short duration of lake trout presence in the river (mean = 56 days/year) suggests female lake trout use the Niagara River primarily for spawning. Diversity in spawning locations may provide lake trout population’s resilience against environmental variability through a portfolio effect. Improved identification of riverine spawning locations, including their overall contribution to wild recruitment, may be a useful tool for managers to restore a wild-produced population of lake trout in Lake Ontario.     

Monte Carlo despeckling of transrectal ultrasound images of the prostate

In this paper, a novel stochastic method is developed for despeckling transrectal ultrasound (TRUS) images of the prostate. By incorporating the circular probe acquisition particularities and speckle noise statistics of TRUS images of the prostate into a likelihood-weighted Monte Carlo estimation scheme, the proposed method can better remove speckle noise while preserving image structures and details that are relevant for image screening, allowing for a better delineation of the lesion contour. Our in silico and in vivo experimental results are promising, which was confirmed by a clinical evaluation of the in vivo test cases by experienced clinicians, and indicate that our method potentially can perform better than other previously proposed methods.