Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations

Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility. The genotype of these patients includes mutations in the CFTR gene, e.g. DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD. In this study we have screened the entirety of CFTR gene in 47 males with anomalies of the vas deferens: 37 cases of congenital bilateral absence of the vas deferens, three cases of congenital unilateral absence of the vas deferens and seven cases of obstructive azoospermia with hypoplastic vas deferens. Among the 94 chromosomes studied, 65 mutations, of which three are novel (2789+2insA, L1227S, 4428insGA), were identified. The majority of patients (63.8%) had two detectable CFTR gene mutations. Furthermore, high frequencies of the DeltaDeltaF508 mutation (44.7%), the T5 allele (36.2%) and R117H mutation (19.1%) were observed.     

Copper, manganese and zinc in the developing brain of control and quaking mice

Copper, manganese and zinc were measured by flameless atomic absorption spectrophotometry in the developing brain of normal and quaking mice. The latter is a neurological mutant presenting early arrest of myelination. Copper concentration was increased by 200% between 10 and 20 days after birth and then leveled off in adult mice. Manganese concentration increased both in control mice and in quaking mice from 3 to 20 days by 200% and then decreased by 19% in control mice and 24% in quaking mice at adult age. Zinc increased by 93% in control and 173% in quaking mice between 10 and 20 days of age, and then progressively declined until 62 days. The mouse brain accumulates considerably all the 3 metals during early development. During the first 20 days, the augmentation is 6-fold for copper, 5-fold for manganese and 5.5-fold for zinc. In quaking, alterations are not very important.     

Pneumatised superior turbinate: a common anatomic variation?

Summary Anatomic variations are important in preendoscopic CT evaluation of the paranasal sinuses. In this study, we investigated whether the superior turbinate could become pneumatised like the middle turbinate, pneumatisation of which is well-known. Images of 52 patients who underwent CT examination prior to endoscopic sinus surgery and who had normally aerated posterior ethmoidal cells and an unobscured nasal cavity were retrospectively evaluated. The patients were 12–68 years old (median age, 35 years); 28 were women and 24 were men. Pneumatisation of the superior turbinates was graded in two groups as minimal or marked. Pneumatisation was evident in 25 patients (48%). 13 unilateral (25%), 8 bilateral (15%) pneumatisations were detected in the group graded as minimal, whereas 1 unilateral and 3 bilateral pneumatisations were present in the markedly (8%) pneumatised group of patients. Superior turbinates were seemingly aerated through the posterior ethmoid cells. The superior turbinates can be pneumatised as the middle turbinate is a not frequent anatomic variation that should be taken into account in preendoscopic CT evaluation of the paranasal sinuses.

---

La pneumatisation du cornet nasal supérieur : une variation anatomique courante ?

Résumé Les variations anatomiques sont importantes à connaitre dans le cadre du bilan tomodensitométrique précédant une chirurgie endoscopique des sinus paranasaux. Dans cette étude, nous avons recherché si le cornet nasal supérieur pouvait être pneumatisé comme l'est le cornet nasal moyen, entité anatomique bien connue. Les images de 52 patients ayant eu une tomodensitométrie avant chirurgie endoscopique et montrant des cellules ethmoïdales postérieures normalement pneumatisées et une cavité nasale nonopaque, ont été évaluées rétrospectivement. Les patients, 28 femmes et 24 hommes, étaient âgés de 12 à 68 ans (moyenne : 35 ans). La pneumatisation du cornet nasal supérieur a été classée en deux groupes; minime et prononçée. Cette pneumatisation était patente chez 25 patients (48 %). Treize pneumatisations unilatérales (25 %) et 8 pneumatisations bilatérales (15 %) furent retrouvées dans le groupe présentant une pneumatisation minime alors que 1 pneumatisation unilatérale et 3 bilatérales (8 %) étaient présentes dans le groupe dont la pneumatisation était plus marquée. Les cornets nasaux supérieurs semblaient être aérés par les cellules ethmoïdales postérieures. Les cornets nasaux supérieurs peuvent être pneumatisés, comme le sont les cornets nasaux moyens, avec une fréquence non-exceptionnelle. Cette variation anatomique mérite d'être prise en considération dans le bilan tomodensitométrique précédant toute chirurgie endoscopique des sinus paranasaux.

     

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.     

Hydrophilic polymers derived from vitamin E

Vitamin E containing copolymers for biomedical applications was obtained by copolymerization reaction of vitamin E methacrylate (VEMA) with 2-hydroxyethyl methacrylate (HEMA), N,N-dimethyl acrylamide (DMA) or vinyl pyrrolidone (VP), in different experiments. High molecular weight copolymers prepared by free radical reactions initiated by azobisisobutironitrilo, AIBN, present a random distribution of vitamin E derivatives along the macromolecular chains, and the average composition depends on the initial composition of the reaction medium. The relative flexibility of the polymeric systems was analyzed measuring the glass transition temperature of copolymeric sequences and that of the pure alternating diad (Tg12) obtained by the application of the treatments proposed by Johnston and Barton to all the systems. Tg12 was higher than the average T of both homopolymers (Tg) for the VEMA-HEMA system, Tg12 was lower than Tg for the VEMA-DMA system and Tg12 was similar to Tg for the VEMA-VP system. VEMA-HEMA copolymers gave rise to hydrogels in water, acidic and alkaline media. VEMA-DMA copolymers gave rise to hydrogels in acidic medium and dissolved in water and alkaline medium. VEMA-VP copolymers were soluble in all media. The swelling of all the hydrogels fit a second order kinetics. A VEMA-HEMA hydrogel was selected for in vivo experiments in order to study the influence of vitamin E on the regeneration process of Achilles tendon. The polymeric derivatives of vitamin E stimulated the regenerative process as a consequence of the antiaging effect in the local area of application.     

KCNE1 reverses the response of the human K+ channel KCNQ1 to cytosolic pH changes and alters its pharmacology and sensitivity to temperature

Previous studies have shown that heteromultimeric KCNQ1/KCNE1 (KvLQT1/minK) channels and homomultimeric KCNQ1 (KvLQT1) channels exhibit different current properties, e.g. distinct kinetics and different sensitivities to drugs. In this study we report on the divergent responses to internal pH changes and further characterize some of the current properties of the human isoforms of KCNQ1 and KCNE1 expressed in Chinese hamster ovary (CHO) cells or Xenopus laevis oocytes. Decreasing the bath temperature from 37 degrees C to 20 degrees C increased the half-activation time by a factor of 5 for KCNQ1/KCNE1 currents (IKs) but by only twofold (not significant) for KCNQ1 currents (IK) in CHO cells. Acidification of cytosolic pH (pHi) increased IKs but decreased 1K whereas intracellular alkalinization decreased I(Ks) but increased IK. pHi-induced changes in intracellular Ca2+ activity ([Ca2+]i) did not correlate with the current responses. At 20 degrees C mefenamic acid (0.1 mM) significantly augmented IKs but slightly decreased IK. It changed the slow activation kinetics of I(Ks) to an instantaneous onset. The form of the current/voltage (I/V) curve changed from sigmoidal to almost linear. In contrast, at 37 degrees C, mefenamic acid also increased I(Ks) but slowed the activation kinetics and shifted the voltage activation to more hyperpolarized values without markedly affecting the sigmoidal shape of the I/V curve. The potassium channel blockers clotrimazole and tetrapentylammonium (TPeA) inhibited I(Ks) with a lower potency than I(K). These results show that coexpression of KCNE1 reversed pH regulation of KCNQ1 from inhibition to activation by acidic pHi. In addition, KCNE1 altered the pharmacological properties and sensitivity to temperature of KCNQ1. The pH-dependence of I(Ks) might be of clinical and pathophysiological relevance in the pathogenesis of ischaemic cardiac arrhythmias.     

DNA microarray: parallel detection of potato viruses

DNA microarray assay has become a useful tool for gene expression studies. Less frequent is its application to detection of viruses or diagnostics of virus diseases. Here we show design of a microscope slide-based microarray assay for simultaneous identification of several potato viruses. Different primer pairs were designed or adopted to obtain specific amplicons from six potato viruses: Potato virus A (PVA), Potato virus S (PVS), Potato virus X (PVX), Potato virus Y (PVY), Potato mop-top virus (PMTV) and Potato leaf-roll virus (PLRV). Purified viral DNA probes were spotted on a microscope slide coated with poly-L-lysine. The same primers were used for preparation of fluorochrome-labeled targets. The latter were denatured and hybridized on the microarray slide (chip). An example of simultaneous assay of two pathogens is given and possibilities of practical application of this type of assay are discussed.     

Radiologic anatomy of the metacarpophalangeal joints II to V

Summary The metacarpophalangeal (MCP) joints II to V of 21 hands were examined radiologically and arthrographically. Different recesses of the joint cavity were demonstrated both radiologically and macroscopically, with a dominating dorsal recess. The existing forms of the dorsal recess were one-tailed, two-tailed, three-tailed, symmetric and caplike. Additionally, a palmar recess was found in the specimens examined, which presented as a small protrusion of the capsule and lay between the metacarpal head and the palmar plate. Furthermore, a distal recess was filled and unfolded in almost all the cases. Lateral recesses were found in the radial and ulnar directions beneath the collateral ligaments. The dorsal recess, due to its ability to collect fluid, is of clinical importance in pathologic processes causing effusions, while the clinical importance of the lateral recesses lie in their proximity to the stabilizing collateral ligaments of the metacarpophalangeal joints. The above mentioned recesses were seen as normal formations of the MCP joints and should therefore be taken into account in pathologic processes in this area.

---

Radioanatomie des articulations métacarpo-phalangiennes des 2ème au 5ème doigts

Résumé Les articulations métacarpophalangiennes (MCP) des 2ème au 5ème doigts de 21 mains ont été explorées en radiographie standard et en arthrographie. Plusieurs récessus articulaires, dont un récessus dorsal prédominant, ont été mis en évidence à la fois sur les radiographies et macroscopiquement. Les récessus dorsaux observés pouvaient comprendre une, deux ou trois cornes ou prendre un aspect de coiffe. Un récessus palmaire a été également trouvé sur 49 pièces sous la forme d'une petite expansion capsulaire entre la tête métacarpienne et la plaque palmaire. Un récessus distal était de plus rempli dans presque tous les cas. Des récessus latéraux étaient trouvés sur les bords radial et ulnaire, entre les ligaments latéraux. Les épanchements articulaires se collectent volontiers dans le récessus dorsal qui se manifeste cliniquement. Les récessus latéraux sont cliniquement intéressants par leur proximité avec les ligaments latéraux des MCP. Les récessus décrits sont des structures normales des MCP et ne doivent pas être pris pour des éléments pathologiques.