Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing

Many unbalanced large copy number variants reviewed in the paper are associated with syndromic orofacial clefts, including a 1.6 Mb deletion on chromosome 3q29. The current report presents a new family with this recurrent deletion identified via whole-exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right-sided cleft lip/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30-fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole-genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion.     

Antimutagenic activity of anthocyanins isolated from Aronia melanocarpa fruits

Anthocyanins belong to the flavonoid family and are ubiquitous in plants, especially in flower petals and fruit peels. We established that anthocyanins isolated from fruits of Aronia melanocarpa markedly inhibited the mutagenic activity of benzo(a)pyrene and 2-amino fluorene in the Ames test. In the Sister Chromatid Exchanges (SCEs) test with human blood-derived lymphocytes cultured in vitro, a significant decrease of SCEs frequency induced by benzo(a)pyrene was observed in the presence of anthocyanins. In the case of mitomycin C the effect of anthocyanins on SCEs frequency was smaller but still noticeable. Anthocyanins markedly inhibited the generation and release of superoxide radicals by human granulocytes. The results suggest that the antimutagenic influence of anthocyanins is exerted mainly by their free-radicals scavenging action as well as by the inhibition of enzymes activating promutagens and converting mutagens to the DNA-reacting derivatives. These preliminary data seem to be important in the aspect of a possible antimutagenic and anticarcinogenic potency of anthocyanins commonly present in fruits and vegetables.     

Fibrinogen, factor VII, antithrombin III, cholesterol and triglycerides in young men with myocardial infarction and in their sons

The concentrations of fibrinogen (Fb) and the activities of factor VII (F VIIC) and antithrombin III (AT III) both in men less than 55 years old with a history of myocardial infarction (MI) and with normolipemia (MI-NLP) or hyperlipoproteinemia (MI-HLP) and in their sons have been measured. A significantly higher levels of Fb were found in both MI groups. Significantly higher levels of F VIIC and AT III were found only in the MI-NLP group. No lipid or haemostatic disorders were noted in sons. Furthermore, a positive correlation between the level of F VIIC and triglycerides (TG) or total cholesterol (TCh) in the patients and sons was revealed. A positive correlation was found between: (a) Fb levels in MI-HLP patients and in their sons; (b) TG levels in MI-HLP patients and in their sons; and (c) AT III activity in MI patients and in their sons. Fibrinogen appears to be associated with ischemic heart disease more closely than factor VII, the latter being strongly linked with hypertriglyceridemia. Elevated activities of AT III may reflect the haemostatic response to the prothrombotic state in IHD on the one hand whereas they may contribute to the development of IHD on the other.     

Mercury content in edible mushrooms in the Wyzyna Wieluńska region

Mercury concentration was determined in the caps and stalks of nine species of edible mushrooms collected at the area of Wieluńska Upland in district of Czestochowa in 1995-96. The mushroom species examined were such as: yellow-cracking bolete Xerocomus subtomentosus, brown birch scaber stalk Leccinum scabrum, slippery Jack Suillus luteus, larch bolete Suillus grevillei, gray knight-cap Tricholoma terreum, parasol mushroom Macrolepiota procera, horse mushroom Agaricus arvensis, fennel funnel cap Clitocybe odora, fairy-ring mushroom Marasmius oreades and tacky green brittle gills Russula aereuginea. The method of mercury measurement was cold-vapour atomic absorption spectroscopy (CV-AAS) after wet digestion of the samples with concentrated nitric acid in a whole glass system. The parasol mushroom and horse mushroom showed a highest mercury concentrations and contained, respectively, 4500 +/- 1700 and 4400 +/- 2400 ng/g dry wt in caps, and 2800 +/- 1300 and 2800 +/- 2100 ng/g dry wt in stalks. In the case of fennel funnel cap and fairy-ring mushroom the mean total mercury concentrations in caps was above 500 ng/g dry wt, and for other species were between 150 +/- 50 and 500 +/- 230 ng/g dry wt. The stalks of the mushroom species examined in all cases showed lower contamination with mercury than caps. The mean total mercury concentrations noted in caps and stalks of mushrooms examined were usually higher than was reported till now in the same species elsewhere in Poland, while a maximum values found in an individual fruiting bodies are within the range of the concentrations noted in specimens collected from an unpolluted areas.     

Macroemg in manifesting carriers of Duchenne muscular dystrophy

The aim of present study was to analyse possible myopathic changes in the muscles of manifesting carriers of Duchenne Muscular Dystrophy (DMD) using concentric needle emg and macroemg methods. Our material consisted of 10 manifesting carriers aged 9-52 (mean 30 years) and 20 healthy age-matched females. Concentric needle emg (CNEMG) and macroemg was performed in biceps brachii (BB) muscle in both groups: carriers and controls. Myopathic changes were observed in BB muscle in 5 of 10 manifesting carriers using CNEMG and in all cases (10 carriers) using macroemg method. Macro electrode, which reflects total motor unit activity, i.e., the total number and size of component muscle fibres, supplies information about early myogenic lesion of the muscle. Therefore the macroemg seems to be a sensitive and useful electrophysiological diagnostic method in carriers of DMD.     

Electron microscopy studies on experimental diabetes and cerebral ischemia in the rat brain

Male Wistar rats were subjected to streptozotocin administration (85 mg/kg i.p.) and to cerebral air embolia with common carotids ligation. Electron microscope studies showed dark neurons, degeneration of endothelial cells and changes in basement membrane of brain capillaries, and changed astroglia in diabetic rats. Our results seem to support our previous findings in light microscopy and correspond with some others authors' suggestions that diabetes leads to chronic, generalized pathologic process in diabetic-rat brain, not-only dependent on vascular pathology, but which may be related to an oxidative/metabolic stress leading to a death of neurons in necrotic or apoptotic way.     

Proton magnetic resonance spectroscopy of primary pediatric brain tumors: neuropathological correlation

Forty-five children with primary brain tumors were evaluated by in vivo proton magnetic resonance spectroscopy (MRS) with the aim of detecting correlations between the obtained spectra and tumor malignancy and histology. All investigations were performed using a 1.5 T MR scanner (Picker) with point-resolved spectroscopic (PRESS) sequence (TR 1600 ms, TE 270 ms, NEX 256). Spectra were analyzed for N-acetylaspartate (NAA), choline containing-compounds (Cho), creatine and phosphocreatine (Cr) and lactate (Lac). The Cho/NAA ratio was the most useful parameter for differentiating between normal brain, benign and malignant tumors as well as discriminating the three main groups of pediatric brain tumors namely pilocytic astrocytoma, ependymoma and medulloblastoma. Proton MRS appears to be an important noninvasive technique in the differential diagnosis of pediatric brain tumors.     

Immunological markers of disease activity in the course of 2-CDA treatment of multiple sclerosis

52 clinically definite multiple sclerosis (MS) patients were treated with subcutaneous injection of 5 mg 2-CDA in 5 consecutive days. The injection courses were repeated 6 times in one month interval. The MRI pattern and immunological markers were studied in serum and CSF before and after 6 months of treatment. The obtained results suggest that treatment with 2-CDA has not any significant effect on humoral immunological events in multiple sclerosis, what is in contrast to some normalization of cellular immunopathological processes.     

Myelin basic protein stimulation index of CD 2 cells in the course of steroid treatment

Myelin basic protein CD 2 lymphocyte stimulation index calculated as the proportion of percentage of myelin basic protein stimulated CD 2 lymphocytes to unstimulated CD 2 lymphocytes was evaluated in a group of 23 multiple sclerosis patients in the course of prednisone or methylprednisolone treatment. After both treatments a decrease of myelin basic protein CD 2 lymphocyte stimulation index was observed, statistically significant after methyloprednisolone medication.