Neurofibromatosis type 1 associated with Charcot-Marie-Tooth type 1A

PubMedID: 19383003Neurofibromatosis and Charcot-Marie-Tooth are genetic disorders of the nervous system affecting the development and growth of nerve cells and demyelination of peripheral neurons, respectively. We report a 22-year-old man who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and Charcot-Marie-Tooth type 1A. The simultaneous occurrence of neurofibromatosis and Charcot-Marie-Tooth disease has rarely been reported. More extensive reports and further investigations of this combination will certainly provide a better understanding of this linkage in the near future. © 2009 Japanese Dermatological Association

Clodronate changes neurobiological effects of pulsed magnetic field on diabetic rats with peripheral neuropathy

PubMedID: 23323995Several studies have reported that pulsed magnetic fields (PMFs) can be a choice of therapy for diabetic peripheral neuropathy. However, the exact underlying mechanism of PMF is still not known. The purpose of this study was, therefore, to investigate the effects of clodronate encapsulated with liposome, a specific agent depleting macrophage, on PMF-treated streptozotocin-induced type I diabetic rats with peripheral neuropathy. Effects of PMF, liposome-encapsulated clodronate (LEC) or their combined treatments were investigated in diabetic rats by measuring the thermal latencies, mechanical thresholds, whole blood glucose levels, serum insulin level, and body mass. In diabetic rats, PMF exhibited a decrease in the blood glucose levels but did not change the serum insulin level. Both mechanical thresholds and thermal latencies of diabetic rats enhanced throughout the PMF treatment. During the PMF treatment, the administration of LEC suppressed the PMF-induced decrease in blood glucose level, PMF-induced increase in mechanical threshold and thermal latencies in diabetic animals. In addition, PMF reduced the LEC-induced increase in insulin levels of diabetic rats. Findings demonstrated that although effects of both PMF alone and LEC alone on diabetic animals are mostly positive, LEC may remove the therapeutic efficacies of PMF in combined treatment. © Informa UK Ltd.102S032We thank Tamer C. Inal who was responsible for the biochemical examinations. This work was supported by The Scientific and Technical Research Council of Turkey (102S032) and Research Foundation of Cukurova University

Clodronate changes neurobiological effects of pulsed magnetic field on diabetic rats with peripheral neuropathy

PubMed: 23323995Several studies have reported that pulsed magnetic fields (PMFs) can be a choice of therapy for diabetic peripheral neuropathy. However, the exact underlying mechanism of PMF is still not known. The purpose of this study was, therefore, to investigate the effects of clodronate encapsulated with liposome, a specific agent depleting macrophage, on PMF-treated streptozotocin-induced type I diabetic rats with peripheral neuropathy. Effects of PMF, liposome-encapsulated clodronate (LEC) or their combined treatments were investigated in diabetic rats by measuring the thermal latencies, mechanical thresholds, whole blood glucose levels, serum insulin level, and body mass. In diabetic rats, PMF exhibited a decrease in the blood glucose levels but did not change the serum insulin level. Both mechanical thresholds and thermal latencies of diabetic rats enhanced throughout the PMF treatment. During the PMF treatment, the administration of LEC suppressed the PMF-induced decrease in blood glucose level, PMF-induced increase in mechanical threshold and thermal latencies in diabetic animals. In addition, PMF reduced the LEC-induced increase in insulin levels of diabetic rats. Findings demonstrated that although effects of both PMF alone and LEC alone on diabetic animals are mostly positive, LEC may remove the therapeutic efficacies of PMF in combined treatment. © Informa UK Ltd.Türkiye Bilimsel ve Teknolojik Araştirma Kurumu: 102S032We thank Tamer C. Inal who was responsible for the biochemical examinations. This work was supported by The Scientific and Technical Research Council of Turkey (102S032) and Research Foundation of Cukurova University

Parental origin and cell stage errors in x-chromosome polysomy 49, xxxxy

Polysomy 49, XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects and genital abnormalities. We describe a patient with 49, XXXXY syndrome who had many characteristics of Fraccaro syndrome; language impairment, mongoloid slant, epicanthal folds, cryptorchidism, umbilical hernia and dysmyelinization in his brain. A GTG-banding technique was used for karyotype analysis of peripheral blood cell cultures. The parental origin of polysomy X was identified by using quantitative fluorescent polymerase chain reaction (QF-PCR) with seven short tandem repeat (STR) markers specific for the X/Y-chromosome which revealed that all the X-chromosomes were of maternal origin. This report provides evidence for successive non disjunctions in maternal meiosis I and II

Amniotic fluid amino acid levels in non-immune hydrops fetalis: a case-control study

In a prospective case-control study, we compared the amniotic fluid amino acid levels in non-immune hydrops fetalis (NIHF) and normal fetuses. Eighty fetuses underwent amniocentesis for different reasons at the prenatal diagnosis unit of the Department of Obstetrics and Gynecology, Faculty of Medicine, Dicle University. Forty of these fetuses were diagnosed with NIHF. The study included 40 women each in the NIHF (mean age: 27.69 ± 4.56 years) and control (27.52 ± 5.49 years) groups, who had abnormal double- or triple-screening test values with normal fetuses with gestational ages of 23.26 ± 1.98 and 23.68 ± 1.49 weeks at the time of sample collection, respectively. Amniotic fluid amino acid concentrations (intra-assay variation: 2.26-7.85%; interassay variation: 3.45-8.22%) were measured using EZ:faast kits (EZ:faast GC/FID free (physiological) amino acid kit; Phenomenex, USA) by gas chromatography. The standard for quantitation was a mixture of free amino acids from Phenomenex. The levels of 21 amino acids were measured. The mean phosphoserine and serine levels were significantly lower in the NIHF group, while the taurine, α-aminoadipic acid (aaa), glycine, cysteine, NH4, and arginine (Arg) levels were significantly higher compared to control. Significant risk variables for the NIHF group and odds coefficients were obtained using a binary logistic regression method. The respective odds ratios and 95% confidence intervals for the risk variables phosphoserine, taurine, aaa, Arg, and NH4 were 3.31 (1.84-5.97), 2.45 (1.56-3.86), 1.78 (1.18-2.68), 2.18 (1.56-3.04), and 2.41 (1.66-3.49), respectively. The significant difference between NIHF and control fetuses suggests that the amniotic fluid levels of some amino acids may be useful for the diagnosis of NIHF

Hemangiopericytoma of the uterus: A rare case of pelvic mass

PubMed ID: 25509980Hemangiopericytoma (HPC) is an uncommon perivascular tumor which may arise from anywhere in the body accounts for 1% of primary vascular tumors. Uterine hemangiopericytomas are usually low grade malignancies with better prognosis. The primary treatment is usually total hysterectomy and bilateral salpingo-oophorectomy. In this report, we aimed to evaluate the clinical characteristics of an 83 years of woman admitted to our clinic with pelvic mass who underwent laparotomy and underwent total hysterectomy and bilateral salpingo-ooforectomy. Postoperative pathology was hemangiopericytoma. © 2014 Old City Publishing, Inc

Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR.

PubMedID: 19309277AIM: To investigate parental origins and cell stage errors of a double nondisjunction in a fetus. METHOD: For the determination of the most common chromosome anomalies, quantitative fluorescent polymerase chain reaction method using short tandem repeat (STR) DNA markers was applied to a fetus with abnormal ultrasonographic findings. Parental origin and cell stage errors of the trisomies were inferred by comparing the inherited STR alleles. Conventional cytogenetic technique was also applied for the confirmation of the aneuploidies. RESULTS: A double nondisjunction including chromosomes 21 and X (48,XXX,+21) was detected prenatally in the fetus. The origin of both chromosomes was maternal, and the errors were in meiosis I for 21 and meiosis II for X. Molecular results were concordant with cytogenetic results. CONCLUSION: Molecular techniques could be useful for the pre- and postnatal diagnosis of the common aneuploidies and determining its parental origin. This kind of study will improve knowledge about the mechanisms of nondisjunction and enable appropriate and rapid genetic counseling

Suppression of the tumorigenicity of B-16V melanoma cells via lysozyme gene

PubMedID: 18999932Objective: The aim of this study was to evaluate the effects of lysozyme on the tumorigenicity of B-16V melanoma cells. Methods: After performing a series of molecular biology applications, including mRNA isolation, reverse transcriptase polymerase chain reaction, restriction digestions and ligations, recombinant pHM6 vector harboring mouse lysozyme gene (pHM6mLys) was constructed. B-16V melanoma cells were transfected with plasmid DNAs (pHM6 and pHM6mLys). Transfected cells (B-16VpHM6 and B-16VpHM6mLys) were selected in media containing geneticin. B-16V, B-16VpHM6, and B-16VpHM6mLys cells were then injected subcutaneously (s.c.) to the three groups of C57BL/6 inbred mice (30 mice/group). These mice were examined every 3 days for s.c. tumor development over 41 days. The results were evaluated by using statistical methods. Results: Tumor formation was observed in all mice injected with B-16V and B-16VpHM6 cells in the first 8-12 days. However, tumor didn't develop in 16 of 30 of the mice injected with B-16VpHMmLys cells. Tumor-free animals (16 mice) in this group were reinjected with B-16V cells, and 9 of them died during the first 10 days of observation. Tumor development was not observed in the remaining 7 mice over 60 days of the experimental period. Results were statistically significant (p values ? 0.05). Conclusions: These findings indicate that lysozyme expressed by B-16VpHMmLys cells may suppress the tumorigenicity of these cells and may help development of protective immunity against B-16V melanoma cells. © Mary Ann Liebert, Inc. 2008