Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH

Isolated deletions of the long arm of chromosome 5, del(5q), are observed in 10% of myelodysplastic syndromes (MDS) and are associated with a more favorable prognosis, although the clinical course varies considerably. If one or more additional chromosomal aberrations are present, this correlates with a significantly shorter overall survival. To assess the frequency of hidden abnormalities in cases with an isolated cytogenetic del(5q), we have performed a genome wide high resolution 44 K 60mer oligonucleotide array comparative genomic hybridization (aCGH) study using DNA from bone marrow cells of 12 MDS and one AML patient. In one case a single additional hidden 5.6 Mb deletion of 13q14 and in another case multiple larger aberrations involving many chromosomes were found. Fluorescence in situ hybridization demonstrated that aberrations present in 35% of the bone marrow cells can be detected by aCGH. Furthermore with oligonucleotide aCGH the deletion end points in 5q were mapped precisely, revealing a cluster of proximal breakpoints in band q14.3 (n = 8) and a distal cluster between bands q33.2 and q34 (n = 11). This study shows the high resolution of oligonucleotide CGH arrays for precisely mapping genomic alterations and for refinement of deletion end points. In addition, the high sensitivity of this method enables the study of whole bone marrow cells from MDS patients, a disease with a low blast count.     

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

In a consanguineous Turkish family, a locus for autosomal recessive nonsyndromic hearing impairment (ARNSHI) was mapped to chromosome 2q31.1-2q33.1. Microsatellite marker analysis in the complete family determined the critical linkage interval that overlapped with DFNB27, for which the causative gene has not yet been identified, and DFNB59, a recently described auditory neuropathy caused by missense mutations in the DFNB59 gene. The 352-amino acid (aa) DFNB59 gene product pejvakin is present in hair cells, supporting cells, spiral ganglion cells, and the first three relays of the afferent auditory pathway. A novel homozygous nonsense mutation (c.499C>T; p.R167X) was detected in the DFNB59 gene, segregating with the deafness in the family. The mRNA derived from the mutant allele was found not to be degraded in lymphocytes, indicating that a truncated pejvakin protein of 166 aa may be present in the affected individuals. Screening of 67 index patients from additional consanguineous Turkish families with autosomal recessive hearing impairment revealed a homozygous missense mutation (c.547C>T; p.R183W) that segregates with the hearing impairment in one family. Furthermore, in a panel of 83 Dutch patients, two additional novel mutations (c.509_512delCACT; p.S170CfsX35 and c.731T>G; p.L244R), which were not present in ethnically matched controls, were found heterozygously. Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population.     

Sequence analysis of a canine parvovirus isolated from a red panda (<Emphasis Type="Italic">Ailurus fulgens</Emphasis>) in China

Canine parvovirus (CPV) was first recognized in the late 1970 s in dogs and has mutated and spread throughout the world in canid and felid species since then. In this study, a novel CPV was isolated from the endangered red panda (Ailurus fulgens) in China. Nucleotide and phylogenetic analysis of the capsid protein VP2 gene classified the red panda parvovirus (RPPV) as a CPV-2a type. Substitution of Val for Gly at the conserved 300 residue in RPPV presents an unusual variation in the CPV-2a amino acid sequence and is further evidence for the continuing evolution of the virus. The 300 residue is important in distinguishing the antigenicity and host range of CPVs. The clinical significance and population impact of RPPV infection in captive red pandas in China is unknown and is an important topic for future research.     

In vitro assessment of axonal growth using dorsal root ganglia explants in a novel three-dimensional collagen matrix

The goal of this study was the development of a bioartificial nerve guide to induce axonal regeneration in the peripheral nervous system (PNS). In this in vitro study, the ability of a novel, 3-dimensional (3D), highly oriented, cross-linked porcine collagen scaffold to promote directed axonal growth has been studied. Collagen nerve guides with longitudinal guidance channels were manufactured using a series of chemical and mechanical treatments with a patented unidirectional freezing process, followed by freeze-drying (pore sizes 20-50 microm). Hemisected rat dorsal root ganglia (DRG) were positioned such that neural and non-neural elements could migrate into the collagen scaffold. After 21 days, S100-positive Schwann cells (SCs) migrated into the scaffold and aligned within the guidance channels in a columnar fashion, resembling "Bands of Büngner." Neurofilament-positive axons (mean length +/- SD 756 microm +/- 318 microm, maximum 1496 microm) from DRG neurons entered the scaffold where the growth within the guidance channels was closely associated with the oriented SCs. This study confirmed the importance of SCs in the regeneration process (neurotrophic theory). The alignment of SCs within the guidance channels supported directional axonal growth (contact guidance theory). The microstructural properties of the scaffold (open, porous, longitudinal pore channels) and the in vitro data after DRG loading (axonal regeneration along migrated and columnar-aligned SCs resembling "Band of Büngner") suggest that this novel oriented 3D collagen scaffold serves as a basis for future experimental regeneration studies in the PNS.     

Arterial hypertension in Croatia. Results of EH-UH study

Arterial hypertension (AH) is the most important independent risk factor of cardiovascular diseases. The prevalence of AH is higher than it was several decades before, and in Europe it is approximately 40%. A higher prevalence of AH has been reported in Europe than in the United States and Canada. According to the results of epidemiology of arterial hypertension in Croatia study (EH-UH), the prevalence of AH in Croatia is 37.5%. Women are more aware, they were treated more often, and blood pressure control was more frequently achieved than in men. However, body mass index and socioeconomic factors have a greater influence on blood pressure values and prevalence of AH in women. A low level of health education and inappropriate treatment are the most important reasons for the poor blood pressure control observed. Measures of primary prevention should be performed continuously and adjusted to special population subgroups. As an increase of obesity and hypertension was observed in school children, these measures should start at that age.     

Medial transposition of the radial nerve for anterolateral plate fixation of the humerus: Cadaveric study

In the operative treatment of humeral shaft fractures the radial nerve may be injured during the reduction of fracture fragments or the application of plate and screws. Also, secondary surgical explorations due to delayed or non-union carry a high risk of radial nerve injury because of the scarring of the neighboring tissue and proximity of the nerve to the implants. Consequently, the need for the transposition of the radial nerve to a safer position arises. A total of 22 (11 right, 11 left) cadaveric upper extremities were studied to evaluate the medial transposition of the radial nerve during the open reduction and anterolateral plate fixation of humeral fractures. The radial nerve was transposed medially in a distal plate fixated humeral fracture model. Distance measurements of the radial nerve and the division points of its branches were carried out in the transposed position and in the original course of the nerve. There was no statistically significant difference between the original course and medially transposed measurements. The distances from the reference point to the division points of other branches (posterior antebrachial cutaneous nerve, motor branch to brachioradialis, most distal motor branch to triceps) were not altered. The mean length of the radial nerve was 185.2 +/- 14.3 mm in its original course and 183.7 +/- 13.8 mm in the medially transposed course. In conclusion, the present study shows that medial transposition of the radial nerve through the fracture line does not increase the nerve's length and may be utilized in cases in which anterolateral plate fixation is indicated.     

Phytoremediation of Cadmium by Native Plants Grown on Mining Soil

The Gümüsköy mining area is located about 25 km west of Kutahya and is the largest silver deposit in Turkey. The present study investigated translocation and accumulation of cadmium (Cd) from the soil into 11 native plants. Plant and soil samples were collected from the field, and Cd concentrations were analyzed by inductively coupled plasma mass spectroscopy. Mean Cd values in the soil, root, and shoot of native plants in the study area were 82.8?±?5, 55.4?±?6, and 43.5?±?4 mg kg^??1, respectively. Plants were separated into several groups according to the enrichment coefficients for shoot and root values of plants. These groups showed Carduus nutans and Phlomis could be potentially bioaccumulator plants useful for phytoremediation of mining soils contaminated by Cd.     

Rubella seroprevalence in women in the reproductive period, Mersin, Turkey

The aim of this study was to determine the rubella seroprevalence in women of reproductive age. This cross-sectional study was conducted on women aged 15-49 years. Serologic studies were performed by using the ELISA method. The number of women enrolled in the study was 607, the mean age was 30.7+/-9.3 years and 13.2% of the participants were living in the rural area. Rubella seroprevalence was 55.0%. This ratio was 77.5% in women living in the rural area (p<0.001). There were no statistically significant correlations between immunity to rubella and other socio-demographic characteristics. In conclusion, women in this age group are advised to have a single dose of rubella vaccination in order to avoid CRS before pregnancy.     

Preoperative ultrasonographic evaluation of testicular volume and blood flow in patients with inguinal hernias.

OBJECTIVE: The purpose of this study was to investigate whether an inguinal hernia would have an impact on the testicular volume and blood flow by scrotal ultrasonography. METHODS: Twenty-six male patients with unilateral inguinal hernias with a mean age of 48.1 years were included in the study. Testicular volumes were calculated, and spectral parameters such as the pulsatility index and resistive index of the testicular artery at supratesticular, subcapsular, and intratesticular levels on both the side with the inguinal hernia and the contralateral side were measured by a preoperative ultrasonographic examination. Comparisons between the dependent groups were performed by a Wilcoxon or paired samples t test where appropriate. RESULTS: The mean +/- SD testicular volume on the side with the inguinal hernia was significantly higher than that on the contralateral testis (15.46+/-4.49 versus 14.54+/-3.65 mL, respectively; P<.05, Student t test). In addition, the mean resistive index of the intratesticular arteries was significantly higher on the side with the hernia compared with the contralateral side (0.66+/-0.06 versus 0.63+/-0.05; P<.05, Student t test). CONCLUSIONS: These data indicate that an inguinal hernia may impair testicular blood flow, which may be attributable to an intermittent mechanical compression effect on the funiculus spermaticus in the inguinal canal.