Improving non-invasive genotyping in capercaillie (Tetrao urogallus): redesigning sexing and microsatellite primers to increase efficiency on faeces samples

A set of 14 microsatellite loci were used for amplification of faecal DNA from capercaillie (Tetrao urogallus). New internal primers were designed for each locus and were employed to perform a seminested PCR approach combined with a multiplex preamplification method. The aim of this process was to increase the quality of the multilocus genotypes and to reduce the amount of sample required. Values of allelic dropout and false alleles found after three repetitions were 8.1 and 1.4% respectively, and 52.63% of the samples amplified for a minimum of 12 loci. Additionally, capercaillie specific sex primers have been designed. These primers give short products suitable for degraded faecal sample amplification. New primers resulted in 87.5% of samples being successfully sexed, a value seven times higher than using the original P2/P8 CHD sexing method.     

Role of Melanocortin Receptors in the Regulation of Gouty Inflammation

Gouty arthritis is a form of acute joint inflammation provoked by joint deposition of urate crystals. Although this acute pathology resolves after a few days, the marked degree of inflammation in the joint and—possibly more important to the patient—the excruciating pain it causes require proper therapeutic management. Often deemed a “poor sibling” of chronic joint pathologies such as rheumatoid arthritis and psoriatic arthritis, the increasing incidence of gout makes it a more palatable disease for novel drug discovery programs. This fact, associated with novel insights into the molecular mechanisms activated by the urate crystal deposition, is at the basis of new therapeutics under clinical development for gout, a valid example being the effective targeting of the proinflammatory cytokine interleukin-1. Here we briefly review the current status of antigout drug development and propose another target; our focus is on melanocortin receptor agonists as novel therapeutics for gout and inflammatory arthritides, a prototype of which, the adrenocorticotropic hormone, is already used in clinical settings.     

Inner ear malformations: Mondini's dysplasia.

Advances in imaging techniques are enabling the detection of increasing numbers of inner ear malformations. Mondini's dysplasia, whether alone or in association with other malformations, is one of those most frequently encountered. We report 4 cases of Mondini's dysplasia treated by us, discussing recent embryological and genetic findings.     

A new technique for mesenteric catheter plication for recurrent advanced obstruction of the small intestine

Various modifications of the Noble plication procedure have proved to be good techniques and each has its specific indications and complications. The mesenteric catheter plication technique was devised to provide a simple, safe and effective alternative to those previously described. Thus far, it has appeared to function as anticipated.     

Comparative effects of topical perfusions of pentylenetetrazol in the mesencephalon and cerebral cortex of cats

Push-pull perfusions of pentylenetetrazol (PTZ) were carried out in the mesencephalon and cerebral cortex (orbitofrontal, motor, and suprasylvian) of “encéphale isolé” cats, while EEG recordings from motor cortices and EMG of facial muscles were obtained. There were significant differences between perfusions in the mesencephalic reticular formation (MRF) and in the cerebral cortex: (i) EEG spikes not accompanied by muscular contractions occurred during perfusion of cerebral cortex (motor cortex included), but never with perfusions in MRF. (ii) In some instances muscular tonic and clonic contractions occurred in the absence of EEG spikes when perfusing the mesencephalon, but never with cortical perfusions. (iii) Both MRF and cortical perfusions induced EEG spikes accompanied by myoclonic seizures; however, muscular seizures were practically of the same amplitude in both sides after perfusion of the MRF and were predominant in the contralateral side after cortical perfusions. In addition, significantly less perfusion time (total dose) of PTZ was needed to induce such events in the MRF than in the cerebral cortex. (iv) Generalized seizures induced by cortical perfusions showed a clear predominance of contractions in the muscles contralateral to the perfusion site, whereas perfusions in the MRF induced generalized seizures indistinguishable from those produced by i.v. administration of PTZ. Results suggest that PTZ generalized seizures, closely resembling the so called “primary generalized seizures,” result from activation of the MRF, whereas PTZ acting in the cerebral cortex produces a model of focal convulsions that may become secondarily generalized.     

Congenital epidermoid cysts over the anterior fontanelle

Epidermoid cysts over the anterior fontanelle were once regarded as rare and exclusive to blacks. The latest reports in the literature indicate a more widespread incidence. Only a few cases have been described in Europe. The authors report three cases of epidermoid cysts in this location occurring in Spaniards. Clinical, radiological, and surgical features are briefly discussed and pertinent literature is reviewed.     

Assessment of fitness to drive and cardiovascular diseases at the Spanish medical traffic centres.

BACKGROUND: There is an increased risk of automobile accidents in patients with some cardiovascular disorders and licensing authorities have imposed certain restrictions on such persons. Experience assessing fitness to drive among drivers with cardiovascular disorders, and the relevance of other associated medical conditions among drivers assessed as unfit, are reported here. METHODS AND RESULTS: The study included 5,234 drivers attending 2 Spanish Medical Driver Test Centres to assess their fitness to drive. Information regarding sociodemographic aspects, driving patterns, medical conditions, medication use and alcohol consumption patterns was recorded: 11.6% of the drivers had a cardiovascular disorder that potentially impaired fitness to drive, 82.5% were found fit to drive, 15.9% were fit to drive with restrictions and 1.6% were unfit. The 10 unfit patients with cardiovascular disorders were primarily considered unfit because of their associated ophthalmologic and medical comorbidities, but the cardiovascular disorders were a contributing factor. CONCLUSION: Most (98.4%) drivers with cardiovascular disorders will be completely fit to drive or fit to drive with restrictions. There is a need for a personalized evaluation of fitness to drive for each driver/patient, taking into account such aspects as the associated pathology, the taking of medicinal drugs and alcohol consumption.     

Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and results

Objective  To analyse the level of adherence to prophylactic surgery of breast and/or ovarian cancer in female carriers of the BRCA1 or BRCA2 mutation in a referential genetic counselling unit in Spain. Methods  Between January 1998 and November 2006, a total of 684 families with several cases of breast and/or ovarian cancer were selected by the Genetic Counselling Unit at the Hospital Clínico Universitario San Carlos. Some of them opted for prophylactic surgery after genetic counselling and genetic testing. Results  The pathogenic mutation was found in 57 families out of a total of 449 families who fulfilled the hereditary breast/ovarian cancer criteria. Out of a total of 238 individuals who were carriers of the mutation, 136 (57%) were offered risk-reducing prophylactic surgery. Prophylactic surgery was chosen by 58 (43%) women out of a total of 136 who were offered this possibility; the histological findings observed 7% malignant lesions in the breast and, in the ovarian-fallopian complex, 2 cases (8%) of a borderline tumour and one case (4%) of papillary adenocarcinoma. Conclusion  This is the first study published on the role of prophylactic surgery in BRCA mutation carriers in the Spanish population. The incidence of occult carcinoma in these cases is lower than in other series.