Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

Mutations in the lipoprotein lipase (LPL) gene are the most common cause of familial chylomicronemia. Here we define the molecular basis of LPL deficiency in four patients of German, French, Dutch, and Chinese descent. We show that two of the probands of Dutch and Chinese origin have a previously described Arg²⁴³His mutation while the patients of German and French descent have a novel Arg²⁴³ Cys substitution in their LPL gene. Haplotype analysis is in favour of two separate origins for the Arg²⁴³ Cys substitution which together with the Arg²⁴³ His mutation would implicate three recurrent mutations involving the first and second nuclcotides of the codon encoding Arg²⁴³ of the LPL gene. The recurrent mutations affecting the first and second nucleotide of CGC coding for the normal Arg residue are support for the high mutability of CpG dinucleotides within the LPL gene. © 1994 Wiley-Liss, Inc.     

Proliferating cell nuclear antigen (PCNA) in medullary thyroid carcinoma

Summary We investigated the expression of proliferating cell nuclear antigen (PCNA) in paraffin sections from 20 cases of medullary thyroid carcinoma (MTC). Follow-up data were available in eleven cases. PCNA index positively correlated with the degree of cellular pleomorphism (grade) of the tumor (p<0.01), the pathologic state (p<0.01) and the poor clinical outcome (p<0.05). These findings suggest that PCNA may be of prognostic significance in MTC.     

The association between arterial blood supply to the anterior chest and juxta-apical thorax-asymmetry-associated right thoracic female adolescent idiopathic scoliosis

This cross-sectional study was carried out to investigate the role of arterial blood supply to the anterior chest wall in the pathogenesis of idiopathic scoliosis in adolescent females. Previous investigations have postulated that there is some asymmetry of the breasts in female adolescents with thoracic scoliosis that may be linked with anatomic and functional asymmetry of the internal mammary (IMA) artery that is the main supplier to the mammary gland. For this reason the present study investigated several anatomic and hemodynamic flow parameters of the IMA with color Doppler ultrasonography (CDU). Twenty female adolescents with right convex thoracic scoliosis were examined with roentgenograms to measure scoliosis curve, vertebral rotation, and concave and convex rib-vertebra angle at three vertebrae (apical, and one level above and one below the apical vertebra). Sixteen comparable nonscoliotic females were used as controls. CDU measured the IMA lumen diameter, its cross-sectional area, time average mean flow, and flow volume per minute. In scoliotics the obtained roentgenographic and ultrasonographic parameters were compared with each other to disclose any relationship. The reliability of CDU was high and the intraobserver variability low (ANOVA, P=0.92–0.94). There was no statistically significant difference in the ultrasonographic parameters of the IMA between right and left side in each individual or between scoliotics and controls. In scoliotics significant (P<0.05–0.01) correlations were shown between anatomic and hemodynamic parameters of internal mammary artery and juxta-apical convex and concave rib-vertebra angle. This study showed that the blood supply to the anterior chest wall in female adolescent scoliotics suffering from right-convex thoracic scoliosis is significantly correlated with juxta-apical convex and concave rib-vertebra angles. Thus, although this study found no correlation between scoliosis characteristics and anterior wall blood supply, it theoretically supports the hypothesis of a possible correlation between juxta-apical thorax asymmetry and anterior chest-wall blood supply in idiopathic scoliosis.

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Possible rôle de la vascularisation artérielle dans l'étiologie des scolioses

Résumé Cette étude a eu lieu afin d'évaluer le rôle de la circulation pariétale thoracique antérieure sur le développement de la scoliose idiopathique chez les jeunes filles. Des investigations précédentes ont fait penser que le disproportion des seins chez les jeunes filles ayant une scoliose dorsale (thoracique) idiopathique pouvait être en relation avec une disproportion anatomique et fonctionnelle de l'artère mammaire interne. Cette artère assure l'alimentation artérielle prépondérante de la glande mammaire. C'est pour cette raison que cette étude recherche les divers flux, paramètres anatomiques et fonctionnels de l'artère mammaire interne à l'aide de l'ultra-sonographie Doppler en couleur (U.D.C.). Vingt jeunes filles ayant une scoliose thoracique dextro-convexe ont été examinées par radiographie afin de mesurer la courbure, la torsion et aussi l'angle entre la vertèbre thoracique et la côte (rib-vertebra-angle RVA) au niveau de trois vertèbres, au niveau de la vertèbre sommet, le niveau supérieur et aussi le niveau inférieur de la vertèbre sommet. Seize jeunes filles comparables sans scoliose ont été choisies comme groupe témoin. L'artère mammaire interne a été examinée par U.D.C. non seulement pour le groupe avec scoliose mais aussi pour le groupe témoin. Les mesures ont concerné le diamètre du tronc artériel, la surface de l'artère, le temps moyen du flux et le volume du flux par minute. Les mesures radiographiques et ultrasonographiques qui ont été obtenues parmi le groupe de scoliose ont été comparées à celle du groupe témoin. La crédibilité de l'U.D.C.. a été grande et la variabilité intra-observateur petite.(ANOVA P=0.92–0.94). Il n'y avait pas de différence statistique importante entre les deux côtés, gauche et droite, aux mesures des paramètres ultasonographiques de l'artère mammaire interne pour chaque individu et parmi les deux groupes d'étude. Cette étude a démontré que l'alimentation artérielle de la paroi thoracique antérieure des jeunes filles du groupe de scoliose est remarquablement en relation avec l'angle entre la vertèbre et la côte du coté droit et gauche au niveau supérieur de la vertèbre sommet. Par conséquent, bien que cette étude n'ait trouvé aucune corrélation entre les paramètres de scoliose mesurés et l'alimentation artérielle de la paroi thoracique antérieure, elle supporte l'hypothèse d'une relation possible entre l'alimentation artérielle de la paroi thoracique et l'asymétrie du thorax au dessus de la vertèbre sommet dans la scoliose idiopathique.

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Antiviral properties of isoborneol, a potent inhibitor of herpes simplex virus type 1.

Isoborneol, a monoterpene and a component of several plant essential oils, showed dual viricidal activity against herpes simplex virus 1 (HSV-1). First, it inactivated HSV-1 by almost 4 log10 values within 30 min of exposure, and second, isoborneol at a concentration of 0.06% completely inhibited viral replication, without affecting viral adsorption. Isoborneol did not exhibit significant cytotoxicity at concentrations ranging between 0.016% and 0.08% when tested against human and monkey cell lines. Isoborneol specifically inhibited glycosylation of viral polypeptides based on the following data: (1) the mature fully glycosylated forms of two viral glycoproteins gB and gD were not detected when the virus was replicated in the presence of isoborneol, (2) no major changes were observed in the glycosylation pattern of cellular polypeptides between untreated and isoborneol treated Vero cells, (3) isoborneol did not affect the glycosylation of gB produced from a copy of the gB gene resident in the cellular genome, and (4) other monoterpenes such as 1,8-cineole and borneol, a stereoisomer of isoborneol, did not inhibit HSV-1 glycosylation.     

Design and synthesis of the CB1 selective cannabinoid antagonist AM281: A potential human SPECT ligand

In the search for a radioligand capable of imaging cannabinoid CB1 receptors in the living human brain by SPECT (single photon emission computed tomography), N-(morpholin-4-yl)-1-(2,4-dichlorophenyl)-5-(4-iodophenyl)-4-methyl-1H-pyrazole-3-carboxamide (AM281) was synthesized. This compound is an analog of the potent, CB1 receptor selective antagonist SR141716A [N-(piperidin-1-yl)-1-(2,4-dichlorophenyl)-5-(4-chlorophenyl)-4-methyl-1H-pyrazole-3-carboxamide]. AM281 bound to brain and spleen membrane preparations (CB1 and CB2 receptors, respectively) with K _i values of 12 nM and 4200 nM, respectively. AM281 also inhibited the response of guinea-pig small intestine preparation to a cannabinoid receptor agonist. Thus, AM281 behaves as a CB1 receptor selective antagonist. Methods for the rapid, high-yield synthesis and purification of [¹²³I]AM281 were developed, and transaxially reconstructed brain SPECT images obtained after continuous infusion of [¹²³I]AM281 in baboons. Thus [¹²³I]AM281 may be suitable for imaging CB1 receptors in humans.     

Ulcerative Colitis and Acute Stroke: Two Rare Complications After Mason's Vertical Banded Gastroplasty for Treatment of Morbid Obesity

The authors present a very rare case of ulcerative colitis and acute stroke appearing as complications after Mason's vertical banded gastroplasty for treatment of morbid obesity in a 46-year-old man. On the basis of recent studies, the authors attempt to find the correlation of these three diseases and the possible effect of each disease on the appearance of the others. The dilemmas in the treatment of this patient are also described.     

Q-switched versus free-running Er:YAG laser efficacy on the root canal walls of human teeth: a SEM study

Twenty-one teeth with one root canal were prepared by the step-back technique, divided into three groups, and split longitudinally. Group A served as a control. In group B, 20 to 150 pulses of 100 micros, 30 to 70 mJ per pulse at 1 to 4 Hz from a free-running Er:YAG laser were applied to the root-canal dentin. In group C, the Q-switched Er:YAG laser, with the same energy parameters and a 190-ns pulse duration was used. Scanning electron microscopy examination revealed that control specimens had debris and smear layer obscuring the dentinal tubules at all levels in the canals without crack formation. Both groups of laser-treated dentin were clean with opened dentinal tubules except around the lased area in which there was an intact smear layer. Cracks were observed in both laser groups with higher frequency in group C. In group B, craters with different depth levels at the root canal walls were produced and the energy apparently was distributed equally, because craters were well-shaped. In contrast, the ablation efficiency in group C was questionable with the parameters used in this study. Consequently, suitable parameters of the free-running Er:YAG laser must be found before its careful use as an adjunct in endodontic therapy.     

Sialolipoma of the parotid gland.

A case of slow-enlarging mass of the parotid region in a 44-year-old male is presented, which proved to be a lipomatous tumour of the parotid gland. The clinical impression was that of a benign salivary gland tumour. The tumour was situated in the deep lobe of the gland, thus a total parotidectomy was performed, with preservation of the facial nerve. Microscopically the lesion was described as consisting of mature adipose tissue, which, however, encompassed both glandular elements and nerve bundles within it. This tumour has been recently recognized as a separate entity under the term 'sialolipoma'.