Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

The nature of a non-mosaic marker Y chromosome observed in a pseudohermaphrodite patient with Leydig cell agenesis was investigated by high-resolution chromosome analysis and molecular probes from the Y chromosome. Cytogenetically, the marker chromosome appeared to be an isodicentric, with breakage in Yq11.21. Double copies of all Yp-specific loci tested, including SRY, were present. The most distal Yq portion detected in patient DNA was DXS278-C, which maps to interval D in the chromosome Yq deletion map. Fragment DXS278-B, which maps to deletion interval E, was absent. The possible relationship between this cytogenetic abnormality and Leydig cell agenesis, a finding never reported in association with Y chromosome rearrangements, is discussed.     

Guía práctica para el uso de registros visuales en la era del Reglamento General de Protección de Datos de la Unión Europea

With the European Union's new General Data Protection Regulation, commonly known as “GDPR”, as the new framework for data protection across the European Union, doctors will need to review how they collect and share personal data to ensure they meet the standards.The aim of this article is to raise awareness on the General Data Protection Regulation, and to provide an easy guideline to steer free from legal problems at the time of drafting papers, presenting lectures and sharing personal data and visual media in particular.To do so, we have analysed the most common situations where personal data, and above all visual media, can be collected, giving clear-cut answers and recommendations for all the scenarios.     

Decreased stimulation by 12-O-tetradecanoylphorbol-13-acetate of superoxide radical production by polymorphonuclear leukocytes carrying the Mediterranean variant of glucose-6-phosphate dehydrogenase

Polymorphonuclear leukocytes (PMNs) from individuals carryingthe Mediterranean variant of glucose-6-phosphate dehydrogenase(G6PD) exhibit a great decrease in this enzymatic activity andin hexose monophosphate shunt (HMS). 12-O-tetradecanoylphorbol-13-acetate(TPA) greatly stimulates HMS of normal PMNs, while it does notaffect that of the deficient PMNs. Similarly, the stimulationof HMS by methylene blue is largely reduced in G6PD-deficientPMNs. These changes are paralleled by a 58% decrease in TPA-stimulatedsuperoxide radical (O₂^–) formation by the deficient PMNs.G6PD activity is not detectable in the deficient PMNs incubatedwith dehydroepiandrosterone, and these cells show a near completeinhibition of O₂^– production. It thus seems that the lowability of G6PD-deficient PMNs in the production of O₂^–depends on the low NADPH generation by HMS in these cells. Thedecrease in TPA-stimulated O₂^– production suggests a reducedresponse of G6PD-deficient cells to promoting agents.     

Filler particle leachability of experimental dental composites

We studied the effect of matrix selection, filler composition, and filler silanization on filler leachability after storage in distilled water or artificial saliva. We evaluated 2 matrix systems, 2 filler systems and 2 silane treatment procedures, combined into 8 different dental composite materials. A total of 128 batches were made, and 2 specimens per batch were prepared. Of these 2 specimens per batch, one was stored in distilled water and the other in artificial saliva, both at 37 degrees C. We transferred the specimens each 30th day during a 3-yr period to new vials containing either freshly distilled water or newly mixed artificial saliva and analyzed the solutions the specimens had been stored in regarding Si, Ba and Al concentrations. The analyses revealed that storage solution, filler composition, and total time in the storage solution had strong effects on leachability. The average monthly leakage of the three elements was linear with time and higher in the artificial saliva. The Ba-containing filler leached Si faster in artificial saliva than in distilled water, and roughly twice as much as the quartz filler. The storage effect approached an order of magnitude, while the filler effect was roughly a factor of two. Filler leaching was linear over time.     

Percutaneous splanchnic nerve radiofrequency ablation for chronic abdominal pain

BACKGROUND: Splanchnic nerve block is a useful alternative to coeliac plexus block in the management of patients with chronic upper abdominal pain. The predictable relationship of the splanchnic nerves to other structures allows for accurate needle placement and hence a low risk of iatrogenic damage. Radiofrequency ablation (RFA) uses a high frequency alternating current to heat tissues leading to thermal coagulation. It produces predictable and accurate lesions and hence is useful alternative to more conventional phenol and alcohol neurolytic methods. METHODS: The present study examined a series of 10 patients undergoing percutaneous RFA splanchnic nerve blockade for chronic pancreatitis. Pain levels, anxiety, quality of life, daily activity, mood and interpersonal relationships were all assessed pre- and postprocedure, using a visual analogue score. Median follow-up was 18 months (range: 12-24 months). Statistical analysis was undertaken using non-parametric Wilcoxon matched pair analysis, statistical significance was set at the 95% confidence intervals. RESULTS: Splanchnic nerve RFA not only led to a decrease in pain scores, opiate analgesia use and acute admissions for pain; but it also resulted in improvement of other parameters associated with long-term debilitating chronic pain, such as anxiety levels, daily activity, overall mood and general perception of health. There were no major complications. All changes observed were statistically significant. CONCLUSION: Although preliminary data regarding RFA ablation of splanchnic nerves are encouraging, further trials are also needed comparing percutaneous splanchnic nerve ablation with opioid analgesia and coeliac plexus blockade.     

Chemoprevention of gastrointestinal malignancies

Background: There has been considerable interest in the use of chemical or dietary agents to suppress or inhibit the development of tumours in the early stages of carcinogenesis. This concept is known as chemoprevention and although the potential for such agents is tremendous, evaluating their clinical benefit is beset with difficulties. Aims: Using selected agents, such as curcumin and indole-3-carbinol, as examples, the present review will discuss the possible mechanisms of chemoprevention and the problems encountered in developing these agents into clinical drugs. Methods: A review of the published literature from 1985 to the present day was performed using Medline and Web of Science search engines. Key words used were ‘gastrointestinal cancer’ and ‘chemoprevention’. Conclusion: A huge number of agents with possible chemopreventive action has been identified. Pilot trials using molecular signatures of cancer activity can be used to select which agents should be included in large-scale phase III clinical trials. Publications concerning chemoprevention are concentrated in the scientific and oncological literature but surgeons with their greater exposure to premalignant gastrointestinal disease need to be aware of current concepts in this rapidly expanding field. This knowledge would allow collaboration between oncologists and surgeons in clinical trials to further evaluate chemopreventive compounds and ascertain their clinical impact.