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Background/Objectives:Pemphigus vulgaris (PV), as an autoimmune disease including mucosa and the skin, is associated with several complications and comorbidities. The present study planned to determine the effect of L-carnitine (LC) supplementation on biomarkers of oxidative stress (OS), antioxidant capacity and lipid profile in PV patients.Subjects/MethodsFifty two control and patients with PV, participated in the current randomized, double-blind, placebo-controlled clinical trial. The patients were allocated randomly to receive 2 g per day LC tartrate subdivided into two equal doses of 1 g before breakfast and dinner (n=26) or placebo (n=26) for 8 weeks. Anthropometric, lipid profile and OS values were determined at baseline and end of intervention period.Results:LC intake significantly reduced serum levels of triglycerides, total-, LDL- cholesterol and oxidative stress index (OSI; P<0.05). In addition, supplementation with LC resulted to a meaningful increase in levels of total antioxidant capacity (TAC) (P=0.05) and serum carnitine (P<0.001). LC intake revealed non-significant change in serum total oxidant capacity (P=0.15) and HDL- cholesterol (P=0.06) in comparison to the placebo.Conclusions:LC consumption may have favorable results on TAC, OSI and lipid profiles in patients with PV. The results were in line with the idea that LC supplementation can be associated with positive effects on metabolic status and OS of patients with PV.

Background:Obesity is associated with low-grade systemic inflammation which has been linked to the increased risk of cardiovascular disease and Type 2 diabetes in obese patients. Aim:To evaluate changes in pro/anti-inflammatory adipocytokines and metabolic profile after moderate diet-induced weight loss. Subjects and methods:Twenty-nine pre-menopausal obese women (body mass index ≥30 kg/m2) aged 21 to 54 years without diabetes, hypertension, or hyperlipidemia, were enrolled in this study. We measured anthropometric parameters, lipid and glucose profiles, interleukin (IL)-6, IL-10, and IL-18 in obese women, who then entered a medically supervised program aimed at reducing body weight by 10% or more. Obese women restricted their caloric intake (by 500–1000 kcal/day) and consumed 50 g/day of a fiber supplement (Slim Last Powder) for 12 weeks. Results:By completing the dietary intervention program, weight (Δ=−10.0%, p<0.0001), body mass index, waist circumference, triceps skinfold thickness, total cholesterol, triglyceride, and fasting plasma glucose significantly decreased, while HDL-cholesterol significantly increased. While plasma levels of IL-6 and IL-18 decreased by 27% after 12 weeks, no significant change was observed in circulating levels of IL-10. Conclusion:Our study suggests that an improved body composition induced by restriction of energy intake is associated with favorable serum concentrations of IL-6 and IL-18 in obese women. However, the anti-inflammatory IL-10 is not affected by a moderate weight decrease.

Background:Plasma ceruloplasmin (Cp) has been shown to be a risk factor for cardiovascular disease and also to be associated with obesity. However, it is not known whether weight loss could decrease the plasma Cp levels. Aim:To investigate the effect of diet-induced weight loss on plasma Cp in obese women. Subjects and methods:Sixty-seven healthy obese women [age =33.4±8.7 yr, body mass index (BMI) =36.0±4.8 kg/m2] were entered into a medically supervised program aimed at reducing body weight by 10% or more. Weight loss was achieved through a diet providing a daily energy deficit of 500–1000 kcal/day. In addition, all patients were prescribed to use 50 g of a fiber supplement per day. For all subjects, assessment of dietary intake, anthropometric indices, and plasma levels of C-reactive protein and Cp was performed at the first visit and repeated at 12thweek of follow-up. Results:By completing the program, weight (Δ=-9.5%, p<0.0001), BMI (Δ=−9.7%, p<0.0001), waist-circumference (Δ=−6.1 %, p<0.0001), and triceps skin-fold thickness (Δ=−14.9%, p<0.0001) significantly decreased. Plasma Cp significantly decreased after 12 weeks of dietary intervention (33.6±5.6 mg/dl vs 25.2±5.8 mg/dl, p<0.0001). Percent change in Cp was correlated with percent change in waist-circumference (r=446, p=0.015). Conclusion:Our study suggests that an improved body composition induced by restriction of energy intake is associated with decreased serum concentrations of Cp in obese women which in turn might have reduced the subjects’ risk of developing cardiovascular disease.

Three new cases of true mosaic trisomy 17 (MT17) were diagnosed in amniotic fluid cells. Postnatal chromosome analysis from lymphocytes did not confirm the trisomic cell line, and follow‐up studies showed normal psycho‐motor development of the children, in one case up to the age of 4½ years. We suggest that there are similarities between MT17 and MT20, in which the majority of pregnancies result in deliveries of healthy babies. Copyright © 1998 John Wiley & Sons, Ltd.

Thirteen new cases of a pericentric inversion 2 collected from different laboratories are reported. In addition 41 cases of a pericentric inversion 2 were reviewed from the literature. The pooled data were analysed using Weinberg's proband method to evaluate the risk of a carrier for either children with congenital anomalies or reproductive wastage. In the “corrected” sample of 166 lifeborn offspring of carriers of a pericentric inversion 2 there were five who showed phenotypic anomalies and two died a few hours after delivery. The reported anomalies are heterogeneous and probably reflect the basic risk of any couple for abnormal lifeborn offspring. There has been no observation of a lifeborn who inherited an unbalanced recombination of a parental pericentric inversion 2. A carrier of a pericentric inversion 2 obviously has an increased risk for reproductive wastage. This is indicated by (1) an increase of the rate of spontaneous abortions and (2) an increase of the rate of index patients ascertained because of previous miscarriages. The risk of a carrier of a pericentric inversion 2 for a spontaneous abortion or a stillbirth may be about twice the basic risk of the general population.

Fragile sites on murine chromosomes were induced by the antimetabolites methotrexate (MTX), fluorodeoxyuridine (FdU), and aphidicolin (APD). To facilitate chromosome identification the analysis was performed on chromosomes of a CD/CD mouse that possesses nine pairs of Robertsonian translocation chromosomes of known arm composition. The pattern of induced fragile sites was rather similar for the different antimetabolites used. Many of them, e.g., 2B, 3B, 5B and 9D, are included in Giemsa-negative bands. On the X chromosome a fragile site was mapped to the region XC/D. Comparative mapping data with human fragile sites have been informative in most instances. Conservation of synteny within known linkage groups seems very likely.

Ten new cases of accessory bisatellited marker chromosomes examined in different laboratories are reported. As a basis for genetic counselling in the context of prenatal diagnosis a cytogenetic categorization of such marker chromosomes is proposed and an estimation of the genetic risk associated with each category is carried out. The results are as follows:1.There is no increased risk for offspring with abnormal phenotype born to a healthy carrier of an accessory bisatellited marker chromosome with either a single or two closely adjacent C-bands (Category AI or AII).2.The unbiased sample of cases with de novo accessory bisatellited marker chromosomes of categories AI and AII is too small to allow a satisfactory estimation of the actual risk that, in case of such a prenatal finding, the foetus may not show a normal phenotype as a consequence of the marker chromosome. There is, however, evidence that this risk may be lower than 10%.3.Accessory bisatellited marker chromosomes showing a discrete pattern of G- or R-bands situated between two distant C-bands (Category AIII) usually indicate a chromosomal imbalance giving rise to an abnormal phenotype. Mosaic carriers of such dicentric marker chromosomes may, however, present a normal phenotype.

Three new cases of true mosaic trisomy 17 (MT17) were diagnosed in amniotic fluid cells. Postnatal chromosome analysis from lymphocytes did not confirm the trisomic cell line, and follow-up studies showed normal psycho-motor development of the children, in one case up to the age of 4½ years. We suggest that there are similarities between MT17 and MT20, in which the majority of pregnancies result in deliveries of healthy babies. Copyright © 1998 John Wiley & Sons, Ltd.

Zusammenfassung: Von 96 Eizellen, die in einem IVF-Programm unbefruchtet bzw. ungeteilt blieben, wiesen 59 den normalen haploiden Satz auf. 24 waren hypohaploid, 2 hyperhaploid, 8 diploid und 3 tetraploid. Der Gesamtanteil aberranter Eizellen betrug 39%. Ein Zusammenhang des Auftretens aberranter Eizellen mit dem Alter der Frauen bzw. mit der Stimulation durch Clomiphen ist aus diesem Material nicht ersichtlich.

Summary.During an in-vitro fertilization programme 150 oocytes from 62 women with a mean age of 31 years (range 24–39) remained unfertilized. Successful chromosome analysis was carried out on 96 oocytes by Q-banding: 59 (61·5%) oocytes bore a normal haploid complement, 8 (8·3%) were diploid and 3 (3·1%) tetraploid. In 26 (27·1%) oocytes aneuploidy was observed; these included 9 (9·4%) nullisomic, 5 (5·2%) double nullisomic, 4 (4·2%) triple nullisomic and 2 (2·1%) disomic oocytes. The remaining 54 (36·0%) oocytes could not be evaluated. A nearly uniform rate of aneuploidy was found for unfertilized oocytes among different donor age groups.Keywords:chromosome study; human oocyte; in-vitro fertilization; aneuploidy

Nine new cases of prenatally detected true mosaic trisomy 20 (T20) are reported. In three instances the fetuses were aborted. One fetus showed multiple malformations associated with a high percentage of T20 cells among amniotic fluid (AF) cells and fibroblasts of different fetal tissues. In two other fetuses only a slight facial dysmorphy was seen which was accompanied by a low percentage of T20 cells among AF cells. In five instances the pregnancies were carried to term, and normal somatic and psychomotor development of the children has been observed, in one case up to the age of 24 months. In one case the pregnancy is continuing. The T20 cells were not detected among cultured lymphocytes of these children.

At least four folic acid sensitive fragile sites have been detected in the karyotype of the Persian vole Ellobius lutescens Th.(Rodentia, Microtinae). Two such “hot spots” are located on chromosome 1 flanking the pericentric segment which is inverted in many individuals. The fragile site on 1p was observed on both homologues in one cell. Our findings suggest that fragile sites are common properties of mammalian chromatin and might have played a role in karyotype evolution.

No Abstract

It has been postulated that accessory marker chromosomes, which frequently show satellites, are effective in inducing meiotic nondisjunction in the carrier. This hypothesis has been tested by comparing expectations derived from it with actual data. Due to the discrepancies between these expectations and actual observations this hypothesis does not hold true: The frequency of trisomy 21 in the offspring of a carrier of an accessory bisatellited marker chromosome cannot be shown to be actually increased, and there is no increase of either the rate of miscarriages to such carriers or the frequency of an accessory marker chromosome among the individuals with regular trisomy 21. This indicates that the risk of trisomy in the offspring of a carrier of an accessory marker chromosome corresponds to the overall incidence of this trisomy.

Twelve animals of the speciesEllobius lutescensfrom two generations were studied with various chromosomal banding techniques. This species carries 17 chromosomes in both sexes. In preceding studies chromosomal sex determination was assigned to different structural variants of chromosome No. 1. In the present study, no definite chromosomal basis for sex determination was found.