Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.

Objectives: Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials. Methods: This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities. Results: By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases. Conclusion: The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation.

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de novo NF1 mutations. Neurofibromatosis type 1 has an incidence rate of 1/2600-3000 individuals, making it a major public health problem. The product of the NF1 gene, the neurofibromin protein, is known to play a critical role in cellular differentiation and in tumor suppression. Due to widespread expression of neurofibromin in numerous tissues, particularly in cutaneous and nervous systems, NF1 mutations cause a wide variety of clinical symptoms, including cutaneous and ocular lesions such as café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, choroidal freckling and internal tumors. In this article, we report the cases of two siblings with NF1, a 21-year-old male and his 24-year-old sister, who have the same c.5392C>T mutation on the NF1 gene (p.Gln1798 Ter). Café au lait macules and freckling were the prominent clinical features in both siblings. However, a plexiform neurofibroma was also observed on the left arm of the sister, which is known to carry potential risk for malignant transformation. Although the mutation was previously described once, to the best of our knowledge, no case report has been published since then.

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.

The Rett syndrome (RTT; OMIM #312750) is a rare genetic disease observed predominantly among girls that affects neurological development. The incidence of this disorder is approximately 1 in 10,000 female births. Diagnosis of the RTT is based on specific clinical criteria and the identification of a mutation in the methyl-CpG-binding protein (MECP), which mainly occurs on exons 3 and 4 of the gene. Mutations in the X-linked methyl-CpG binding protein 2 gene (MECP2) are observed in nearly 95% of RTT cases. RTT is associated with considerable genotypic and phenotypic heterogeneity. Recently, it has been observed that mutations in the genes Netrin G1 and cyclin-dependent kinase like 5 (CDKL5) also lead to clinical pictures resembling RTT. In this case report, we describe a 4-years-old female patient who met all the relevant criteria for the diagnosis of RTT. Sequence analyses performed on the patient identified a de novo, heterozygous c.489G>A mutation at exon 4 of the MECP2 gene.

Outcomes of moderate sedation in paediatric dental patients.

BACKGROUND: The aim of this study was to evaluate the outcomes of moderate sedation with nitrous oxide/oxygen (N(2) O/O(2)) alone or combined with different dosages and administration routes of midazolam in uncooperative paediatric dental patients using the Bispectral Index System (BIS). METHODS: This one-year clinical study examined first-visit moderate sedation performed in 240 healthy children aged 4-6 years. Subjects were randomly divided into four groups according to drug, route and dosage, as follows: Group 1 - 0.20 mg/kg midazolam (40 mg/ml) delivered intranasally; Group 2 - 0.75 mg/kg midazolam (15 mg/3 ml) delivered orally; Group 3 - 0.50 mg/kg midazolam (15 mg/3 ml) delivered orally. All children in these three groups also received inhalation sedation with 50%-50% N(2) O/O(2), whereas children in Group 4 received inhalation sedation with 50%-50% N(2) O/O(2) only. The outcome of sedation was evaluated as either 'successful', 'failed' or 'not accepted'. RESULTS: The highest success rate was found in Group 1 (0.20 mg/kg intranasally, 87%), followed by Group 2 (0.75 mg/kg orally, 79%). The overall mean success rate for all groups was 73%. CONCLUSIONS: Moderate sedation can be successfully used in the clinical management of paediatric dental patients, with both intranasal and oral sedation using midazolam in conjunction with nitrous oxide found to be effective methods.

Antileishmanial activity in Israeli plants.

Leishmaniasis is a vector-borne disease caused by flagellated protozoan parasites of the genus Leishmania, which affects both humans and other mammals. Most of the available drugs against the disease are toxic and parasite resistance to some of the drugs has already developed. In the present study, the leishmanicidal activities of methanolic extracts of some Israeli plants have been evaluated in vitro, against the free-living promastigotes and intracellular amastigotes of Leishmania major. Of the 41 extracts examined, those of two plants (Nuphar lutea>Withania somnifera) were highly effective (with a maximum inhibitory effect of >50%), those of three other species (Pteris vittata>Smyrnium olusatrum>Trifolium clypeatum) were moderately effective (25%-50%) and another four extracts (Erodium malacoides>Hyparrhenia hirta>Thymelaea hirsuta>Pulicaria crispa) showed a marginal effect (15%-22%) against the parasites. Extracts of nine plant species therefore showed antileishmanial activity but only the extract of N. lutea, used at 1.25 microg/ml, eliminated all the intracellular parasites within 3 days of treatment, with no detectable toxicity to the host macrophages. The mean (S.D.) values recorded for the median inhibitory concentrations of this extract (IC50) against the promastigotes [2.0 (0.12) microg/ml] and amastigotes [0.65 (0.023) microg/ml] and the median lethal concentration (LD50) against macrophages [2.1 (0.096) microg/ml] were encouraging, giving a therapeutic selectivity index [LD50/IC50 for amastigotes)] of 3.23. The extract of N. lutea was, in fact, generally as effective as the paromomycin that was used as the 'gold standard' drug. These results indicate that N. lutea and probably also Withania somnifera might be potential sources of clinically useful, antileishmanial compounds.

Nuphar lutea: in vitro anti-leishmanial activity against Leishmania major promastigotes and amastigotes.

UNLABELLED: Several anti-leishmanial drugs of choice are of plant origin. Many of the available drugs against the disease are toxic and in certain cases parasite drug resistance is developed. The development of new compounds is urgently required. AIMS OF THE STUDY: To determine the leishmanicidal activity of the Nuphar lutea plant extract against Leishmania major in vitro. MATERIALS AND METHODS: The leishmanicidal activity of methanolic plant extract against L. major free living promastigotes and intracellular amastigotes was evaluated, using microscopic examinations and the enzymatic XTT assay. RESULTS: Methanolic extract of N. lutea was highly effective against both Leishmania promastigotes and L. amastigotes (IC(50)=2+/-0.12 microg/ml; ID(50)=0.65+/-0.02 3 microg/ml; LD(50)=2.1+/-0.096 microg/ml, STI=3.23). The extract at 1.25 microg/ml totally eliminated the intracellular parasites within 3 days of treatment. Also, a synergistic anti-leishmanial activity was demonstrated with N. lutea extract combined with the anti-leishmanial drug--paromomycin. The partially purified N. lutea active component was found to be a thermo-stable alkaloid(s) with no electrical charge and is resistant to boiling and to methanol, dichloromethane and xylene treatment. CONCLUSIONS: The present study suggests that N. lutea might be a potential source of anti-leishmanial compounds.

Radiographic evaluation of third molar development in relation to chronological age among Turkish children and youth.

A sharp increase in forensic age estimation of living persons has been observed in recent years. However, ethnic populations residing in different countries have been insufficiently analyzed. According to 2004 data compiled by the Essen-based Turkey Research Center, there are 3.8 million Turkish people living abroad, and 3.2 million of them reside in European Union countries. Despite the high number of Turks living abroad, little is known about third-molar development for forensic application in this population. Hence, it was considered worthwhile to determine the developmental stages of the third molar in a group of Turkish population, to assess chronological age estimation based on the developmental stages, and to compare third molar development according to sex, age and location. Orthopantomograms of 1134 Turkish patients, ages 4-20 years were examined and third-molar developmental stages were evaluated based on Demirjian's classifications. Orthopantomograms were scored by two different observers, and Wilcoxon matched-pairs signed-ranks test used to test intra- and inter-observer reliability revealed a strong agreement between both intra- and inter-observer measurements. Linear regression analysis was performed to correlate third-molar development and chronological age, and further statistical analysis was performed to determine the relation between sex, age and location. Results showed a strong linear correlation between age and molar development (males: r(2)=0.57; females: r(2)=0.56). Mineralizations of left and right third molars were compared using Wilcoxon tests, and no statistical differences were found. No significant differences were found in third-molar development between males and females. Mandibular third molar crypt formation was observed in 2.4% of patients at age seven and maxillary third molar crypt formation was observed in 1.3% of patients at age seven. A strong correlation was found between third-molar development and chronological age. Among the Turkish population, third molar crypt formation is observable at as early as 7 years in both the mandible and maxilla. Agenesis can be determined conclusively if no radiolucent bud is present by age 14.

The effect of formocresol on bond strength of adhesive materials to primary dentine.

The aim of this study was to evaluate the effect of formalin cresol on bonding of two compomers (Prime & Bond and Dyract, Futurabond and Glasiosite to primary dentine. Eighteen non-carious primary mandibular molar teeth were used. The two materials were placed onto the tooth surfaces before being sheared with a knife-edged blade with a crosshead speed of 1 mm min(-1). Two randomly selected teeth from each group were evaluated by scanning electron microscopy (SEM). The statistical analysis (paired t-test and Student's t-test) revealed that shear bond strength was significantly higher in the formocresol-applied group than in the group that was not applied formocresol (P < 0.05), but there was no significant difference between the restorative materials. SEM analyses also supported the results obtained. In conclusion, if compomers are used after endodontic processes which require the application of formocresol in primary teeth, dentinal bonding would not be decreased, but on the contrary, increase.

Poly(adp-ribose) synthetase inhibition reduces bacterial translocation in rats after endotoxin challenge.

We investigated whether 3-aminobenzamide (3-AB), a poly(ADP-ribose) synthetase (PARS) inhibitor, reduces bacterial translocation (BT) after intraperitoneal endotoxin administration. Wistar rats were randomized to receive intraperitoneal saline (control, n = 6); endotoxin (n = 8); 3-AB (n = 6); and 3-AB plus endotoxin (n = 8). Six hours later, to evaluate the endotoxin-related intestinal injury and BT, tissue and blood samples were collected. Administration of intraperitoneal endotoxin caused severe intestinal injury and BT to mesenteric lymph nodes. PARS inhibition with 3-AB completely prevented endotoxin-induced BT. No colony-forming bacteria was isolated from the samples obtained from 3-AB-pretreated animals under endotoxin challenge. Treatment with 3-AB significantly reduced the endotoxin-induced intestinal mucosal injury. The inhibition of PARS by its blocker 3-aminobenzamide during endotoxemia prevents bacterial translocation and intestinal injury in rats. PARS activation may provide a novel therapeutic approach in reducing gut barrier failure seen in endotoxemia.

Development and in vitro evaluation of a buccoadhesive pindolol tablet formulation.

Controlled-release buccoadhesive tablets containing pindolol were prepared and evaluated in order to achieve constant plasma concentrations during the treatment of chronic hypertension and to improve the bioavailability of pindolol by the avoidance of hepatic first-pass metabolism. The formulations were tested for weight, hardness, friability, content uniformity, swelling rate, bioadhesive force, and drug release rate values. Carbopol 934 and NaCMC were used as bioadhesive polymers and Methocel K4M, Methocel K15M, and HPC were added as matrix-forming polymers.