A Holistic Approach to Assessment of Population Exposure to Radiation: Challenges and Initiatives of a Regulatory Authority.

A regulatory authority for radiation safety should continuously evaluate and improve the national safety framework, in line with current requirements and standards. In this context, the Greek Atomic Energy Commission initiated a series of concerted actions. The radiation dose to the population due to public and medical exposures was assessed. The assessment of dose due to public exposure was based on measurements of radon concentrations in dwellings, radionuclide concentrations in environmental samples, and air dose rates; the assessment of dose due to medical exposure was based on dose measurements for typical examinations or procedures and data on their frequency. The mean effective dose to a member of the population was found to be 4.5 mSv (1.8 mSv and 2.7 mSv from medical and public exposures, respectively). Regarding occupational exposure, aircrew dose assessment, eye lens monitoring, and the national dose registry were significantly improved. With respect to artificial tanning (sun beds), the ultraviolet radiation produced was assessed and the practices followed were observed. Results demonstrated exceedance of the 0.3 W m erythema effective irradiance limit set in European Union standards by 63.5% of the sun beds measured, along with general noncompliance with standards. An overarching activity was the upgrade of the Greek Atomic Energy Commission information system in order to collect and disseminate radiation data electronically, launch a networking strategy for interaction with stakeholders, and facilitate the process of regulatory control. In response to the above findings, regulatory actions have been initiated.

Genetic findings of Cypriot spinal muscular atrophy patients.

Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disorder characterised commonly by proximal muscle weakness and wasting in the absence of sensory signs. Deletion or disruption of the SMN1 gene causes the disease. The SMN1 gene is located within an inverted duplication on chromosome 5q13 with the genes SMN2, NAIP and GTF2H2. MLPA analysis of 13 Cypriot SMA patients revealed that, 12 patients carried a homozygous SMN1 gene deletion and one patient carried two copies of the SMN1 gene. Two of 13 cases were a consequence of a paternally originating de novo mutation. Five genotypes were identified within the population, with the most frequent being a homozygous SMN1 and NAIP genes deletion. In conclusion, genotype-phenotype correlation revealed that SMN2 is inversely related to disease severity and that NAIP and GTF2H2 act as negative modifiers. This study provided, for the first time, a comprehensive overview of gene copy numbers and inheritance patterns within Cypriot SMA families.

Effectiveness of transvaginal colporrhaphy with porcine acellular collagen matrix in the treatment of moderate to severe cystoceles.

PURPOSE: The aim of this study was to determine the effectiveness of transvaginal anterior colporrhaphy with the use of porcine acellular collagen matrix in the treatment of moderate to severe cystocele. MATERIALS AND METHODS: This retrospective study included 95 patients who underwent anterior colporrhaphy with the use of porcine dermus from September 2003 through March 2008 at the Gynaecological Department of University General Hospital of Alexandroupolis in Greece. The inclusion criterion was a grade 2-4 cystocele by the Baden-Walker halfway system. Postoperatively patients were evaluated at one, six and 12 months. Objective cure was defined as no or grade 1 cystocele with an asymptomatic patient at 12 months postoperatively. Improved outcome was considered as an asymptomatic patient with a grade 2 cystocele and failure symptomatic patients or with grade 3 or 4 cystocele. RESULTS: All of the patients had a 12-month postoperative follow-up or were noted as a failure prior to the 12-month assessment. The majority of the women were menopausal (88.4%) and overweight (mean BMI 26.1). The overall cure rate was 81.1%, the improvement of the cystocele was 10.5% while the failure rate was 8.4%. The complications we noted were vaginal erosion in 2.01% and graft extrusion in 1.05% of the patients. CONCLUSION: Transvaginal anterior colporrhaphy using porcine dermal in the treatment of moderate to severe cystocele is simple, safe, easily learned and performed with a high success rate and low morbidity.

Two-year results of a new two-minute hot liquid balloon endometrial ablation system (Thermablate): a pilot study.

PURPOSE: To evaluate the feasibility, safety and clinical outcomes of a new 2-minute hot liquid balloon endometrial ablation system (Thermablate). MATERIAL AND METHOD: This prospective observational study included 72 premenopausal women with menorrhagia. All patients were treated from February 2005 through February 2008 under general anaesthesia in the Department of Obstetrics and Gynaecology at the University Hospital of Alexandroupolis, Greece. Thinning of the endometrium was achieved by sharp curettage immediately prior to the procedure. Pretreatment evaluation of menstrual blood flow, duration of menses and frequency of menses were recorded on all patients. Patient records were screened for adverse events, post procedure pain and required medication, dysmenorrhea, satisfaction and menstrual bleeding patterns. RESULTS: Follow-up at three months (n = 72), 6 months (n = 62), 12 months (n = 47) and 24 months (n = 17) showed a trend towards reduced monthly blood flow. Combined amenorrhea and hypomenorrhea rates at 3, 6, 12 and 24 months were 39%, 73%, 77% and 70%, respectively. The corresponding satisfaction rates were 86%, 93.5%, 93.5% and 82.4%, respectively. Dysmenorrhea rates increased from 37.5% prior to surgery, to 57% at three months and decreased to 23.5% at 24 months (p < 0.0001). CONCLUSION: Endometrial ablation with the Thermablate system is a safe and effective therapy for dysfunctional uterine bleeding when other therapies are contraindicated or have been tried and failed.

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.

OBJECTIVE: To determine the phenotypic and cellular expression of two novel connexin32 (Cx32) mutations causing X-linked Charcot-Marie-Tooth disease (CMT1X). METHODS: The authors evaluated several members of two families with CMT1X clinically, electrophysiologically, pathologically, and by genetic testing. The Cx32 mutations were expressed in vitro and studied by immunocytochemistry. RESULTS: In both families, men were more severely affected than women with onset in the second decade of life. In the first family, the phenotype was that of demyelinating polyneuropathy with variable involvement of peripheral nerves. There was clinical evidence of CNS involvement in at least three of the patients, with extensor plantar responses and brisk reflexes. In the second family, the affected man presented with symmetric polyneuropathy and intermediate slowing of conduction velocities, whereas affected women had prominent asymmetric atrophy of the leg muscles. The authors identified two novel missense mutations resulting in L143P amino acid substitution in the first family and in V140E substitution in the second family, both located in the third transmembrane domain of Cx32. Expression of these Cx32 mutations in communication-incompetent HeLa cells and immunocytochemical analysis revealed that both mutants were retained intracellularly and were localized in the Golgi apparatus. In contrast to wild-type protein, they did not form gap junctions. CONCLUSION: These novel connexin32 (Cx32) mutations cause a spectrum of clinical manifestations characteristic of Charcot-Marie-Tooth disease (CMT1X), including demyelinating or intermediate polyneuropathy, which is often asymmetric, and CNS involvement in one family. The position and cellular expression of Cx32 mutations alone cannot fully predict these phenotypic variations in CMT1X.

Cruciate ligament replacement using a meniscus. An experimental study.

In 30 rabbits, the medial meniscus was used to replace the anterior or posterior cruciate ligament. The changes that took place were followed in histological sections, obtained both from the area of insertion into bone and from the intra-articular part of the graft. There was a gradual differentiation to chondroid tissue, with subsequent calcific deposition and no appearance of normal ligamentous tissue. The strength of the graft after 52 weeks was only one-quarter of that of the normal ligament. Our results do not justify the use of the meniscus to replace a torn cruciate ligament.