Study of the duplication of 17p11.2-12 chromosome region in the patients with hereditary motor and sensory neuropathy type 1A

Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. CMT is a heterogeneous group of disorders characterized by chronic peripheral motor and sensory neuropathy. We have performed the detection of 1.5 Mb CMT1A tandem duplication in 17p11.2-12 chromosome region for autosome-dominant CMT1 patients and their relatives using the analysis of two (CA)n polymorphic microsatellite loci: 17S921 and 17S1358 localised in the duplication region. CMT1A duplication was found in three of five autosome-dominant CMT1 families. It has been shown that CMT1A duplication analysis is important for early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.     

Cranial anatomy,taxonomic implications and palaeopathology of an Upper Jurassic Pliosaur (Reptilia: Sauropterygia) from Westbury,Wiltshire, UK

Abstract: Complete skulls of giant marine reptiles of the Late Jurassic are rare, and so the discovery of the 1.8‐m‐long skull of a pliosaur from the Kimmeridge Clay Formation (Kimmeridgian) of Westbury, Wiltshire, UK, is an important find. The specimen shows most of the cranial and mandibular anatomy, as well as a series of pathological conditions. It was previously referred to Pliosaurus brachyspondylus, but it can be referred reliably only to the genus Pliosaurus, because species within the genus are currently in need of review. The new specimen, together with another from the same locality, also referred to P. brachyspondylus, will be crucial in that systematic revision, and it is likely that the genus Pliosaurus will be found to include several genera. The two Westbury Pliosaurus specimens share many features, including the form of the teeth, but marked differences in the snout and parietal crest suggest sexual dimorphism; the present specimen is probably female. The large size of the animal, the extent of sutural fusion and the pathologies suggest this is an ageing individual. An erosive arthrotic condition of the articular glenoids led to prolonged jaw misalignment, generating a suite of associated bone and dental pathologies. Further damage to the jaw joint may have been the cause of death.     

On the existence of a gradient of sensitivity to the lack of sodium in the spinal roots of the bullfrog

The Et class of fibers includes fibers of Gasser's d.r. C group. The fibers of the dorsal root are more sensitive to the effect of lack of sodium than are the fibers of the ventral root. In the two roots there is a gradient of sensitivity to the lack of sodium, which is such that in all the root fibers the sensitivity decreases with increasing distance from the spinal cord. The gradient continues in the trunk up to about 10 to 12 mm. peripheral to the trunk-roots margin. No comparable gradient of sensitivity to the lack of sodium has been observed in the rest of the nerve trunk. The gradient of sensitivity to the lack of sodium has no relationship to the anatomical distribution of the epineurium. As a working hypothesis it is suggested that the gradient of sensitivity to the lack of sodium is one aspect of a transitional gradient that serves to establish a gradual change between the properties that the axons have inside the spinal cord and the properties that they have inside the nerve trunks. Details are given of the temporal course of the loss of excitability by root fibers deprived of sodium. It is suggested that sodium is present in the nerve fibers, in 2 forms, loosely and tightly bound sodium and that loss of loosely bound sodium is sufficient to render the nerve fibers unable to conduct impulses. If the rate of loss of loosely bound sodium is decreased, conversion of tightly bound into loosely bound sodium may temporarily restore the excitability of the nerve fibers.     

Evolution of the Zfx and Zfy genes: rates and interdependence between the genes

A phylogenetic analysis of sex-chromosomal zinc-finger genes (Zfx and Zfy) indicates that the genes have not evolved completely independently since their initial separation. The sequence similarities suggest gene conversion in the last exon between the duplicated Y-chromosomal genes Zfy-1 and Zfy-2 in the mouse. There are also indications of conversion (or recombination) between the X- and Y-chromosomal genes in the crab- eating fox and in the mouse. The method for estimating synonymous and nonsynonymous substitutions is modified by incorporating the substitutions in the twofold-degenerate sites in a novel way. The estimates of synonymous substitutions support the generation-time hypothesis in that the obtained rates are higher in mice (by a factor of 4.7) than in humans and higher in the Y-chromosomal genes (by a factor of 1.9) than in the X-chromosomal genes.      

Comparative characteristics of activity in grafted and intact neocortex in slice preparations

Background single unit activity and mixed single and multiunit responses to electrical stimulation of rat's embryonic cortex grafted into the somatosensory cortex of adult rats were investigated in a slice preparation. The relative number of neurons exhibiting background activity in the grafts was higher than in slices of intact cortex (23 and 6%, respectively), however, the portion of neurons responding to electrical stimulation of areas of neighboring neocortex in the recipient was lower than in intact cortex. The latent periods of population responses in the grafts were consistently longer than in those in intact neocortex (19.4±5 and 5.8±1.1 msec, respectively), although the extreme values coincided. The duration of population responses in the grafts was approximately an order of magnitude longer. The data presented suggests the existence of local connections between the graft and the brain of the recipient and shows weakness of inhibitory processes in the grafts. A functional integration of graft and brain in recipients with craniocerebral trauma was demonstrated.Institute of Biophysics, Academy of Sciences of the USSR, Pushchino, Moscow. Institute of Neurosurgery, Ministry of Public Health of the Ukrainian SSR, Kiev. Translated from Neirofiziologiya, Vol. 23, No. 3, pp. 273–280, May–June, 1991.     

The possibility of increasing the precision of biochemical diagnostics of Gaucher disease

Estimation of chitotriosidase activity is proposed for final diagnostics of Gaucher disease. Using this method the diagnosis has not been confirmed in one patient of 25 ones with this preliminary diagnosis. The problems of complex diagnostics of Gaucher disease are discussed.     

INFLUENCE OF EDUCATION/PROFESSION OF MEXICAN CONSUMERS ON ACCEPTANCE AND PURCHASE INTENT OF CORN TORTILLA

Influence of education/profession of Mexican consumers on acceptance and purchase intent of corn tortillas was evaluated. Two groups of 150 Mexican consumers each (faculty/graduate students [A] versus field laborers [B]) rated sensory acceptability of corn tortillas. Acceptance and purchase intent were rated using a binomial scale. Group B had higher expectations towards corn tortillas as indicated by lower acceptability ratings. Both groups used rollability, resistance-to-tearing, and chewiness to differentiate tortilla samples, but group B paid more attention to these attributes as indicated by higher canonical correlation values. Acceptance was influenced by overall liking for both groups; chewiness and taste were also significant for group B. Purchase intent was influenced by overall liking and taste for both groups, but color for group A, and appearance and chewiness for group B were also critical. This study demonstrated that education/profession of Mexican consumers affected their acceptance and purchase intent of corn tortillas.

PRACTICAL APPLICATIONS

This study revealed that education/profession of Mexican consumers affected acceptance and purchase intent of corn tortillas. Two groups of consumers with different levels of education had different expectation toward tortillas when making purchase decision. Understanding how each consumer segment differently perceives about the tortilla product will give marketers and manufacturers a better direction for developing tortilla products with expected sensory qualities.     

Use of a crude extract or purified antigen from first‐instar cattle grubs,Hypoderma lineatum,for the detection of anti‐Hypoderma antibodies in free‐ranging cervids from southern Spain

During the 2003–2005 hunting seasons, a total of 120 Cervidae, including 39 red deer (Cervus elaphus hispanicus) and 81 fallow deer (Dama dama), were examined for subcutaneous myiasis. Animals were shot from January to June in southern Spain. Specific antibodies against Hypodermatinae (Diptera: Oestridae) were detected by indirect enzyme‐linked immunosorbent assay (iELISA) using a crude larval extract (CLE) and a purified antigen [hypodermin C (HC)] obtained from first instars of Hypoderma lineatum (De Villers) (Diptera: Oestridae). Hypoderma actaeon Brauer was the only species detected in this study, which represents the first confirmation of this species in fallow deer from Spain. The overall prevalence of animals presenting subcutaneous larvae (14.2%) was considerably lower than the prevalences determined by iELISA with CLE (43.3%) and HC (40.0%). Red deer showed a higher prevalence of Hypoderma than fallow deer. The concordance between larval examination during the hunting season and iELISA using both antigens was low, whereas the concordance between the CLE and HC ELISAs was good. Larval antigens obtained from H. lineatum constitute a good tool for the diagnosis of H. actaeon in Cervidae, especially when the hunting season does not coincide with the maximum presence of larvae on the back.     

Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is an inherited storage disease caused by deficiency of arylsulfatase A (ARSA). Molecular analysis of the major mutations in the ARSA gene was performed in 10 Ukrainian patients (from 9 families) with MLD. According to the age of onset, late infantile MLD was identified in 3 patients, juvenile MLD in 5 patients, and adult MLD in 2 patients (sibs), respectively. The ARSA activity in the patients was 2-26 nmol/h/mg protein (the normal activity has been established in our laboratory as 111.9 +/- 7.1 nmol/h/mg protein). No correlation between enzyme activity and a clinical course of disease was revealed. The IVS2 + 1 mutation was found at 2 of 20 alleles (in a patient with late infantile form) and the P426L mutation was found at 2 of 20 alleles (in two patients with juvenile form). Thus, the total frequency of these two major mutations in the ARSA gene is 20% in Ukrainian MLD patients.