Genetic epidemiology of rare diseases in San Luis Province, Argentine

Objectives: Genetic epidemiologic studies in populations of the world are scarce and this medical information is of special value for clinical geneticists. The purpose of this work was to know and to implicate the geographical environments with the genetic diseases found in patients attending a genetic consulter, according to the type of work, place of residence, or environment characteristic in the province of San Luis, Argentine. Material and Methods: Clinical genetics consultations during 2014–January 2019 were analyzed for all patients derived to the primary consultation center, and nearby hospitals in San Luis. A total of 448 patients were registered and examined once a week at the Central Hospital of San Luis. The reasons of the derivate medical consultations were divided into major malformations (MMal), neurodevelopment diseases, and genetic counseling. In addition, possible environmental risk factors such as urban or rural origin, the working activity of parents in manufacturing houses or mines, and drug consumption during pregnancy were also considered. The prevalence of genetic diseases was calculated for all eight province departments and compared with the province’s apparent prevalence. Results: In the whole sample (n = 448), the major proportion of patients came from the city. Patients with MMals were the most abundant and significantly higher than the other categories. The prevalence of MMals distributed approximately similarly in all departments of the province, with exception of two of them. No association was found between types of work or drug abuse with MMals in this sample. Conclusion: Of all types of genetic diseases, the most prevalent was the MMals. Regarding its prevalence, except for two departments, each department’s prevalence had a similar distribution. Most of the affected patients with this type of genetic condition were found in the city and not in other regions of supposed risk

Microsurgical reconstruction in limb salvage due to a giant cell tumor of the distal radius. Case report / Reconstrucción microquirúrgica de la extremidad asociada a un tumor de células gigantes del extremo distal del radio. Reporte de caso

Abstract: The giant cell tumor of bone is one of the most controversial neoplasms due to growth patterns that may present. The case reported shows a very aggressive tumor in a classic location, but key to hand function. Rather than treat with radical surgery, was planned and performed a wide resection with an ulnar-carpus arthrodesis and microsurgical reconstruction of the defect throught an anterolateral thigh flap. The multidisciplinary approach of bone neoplasms produce a positive impact on patients.

Resumen: El tumor óseo de células gigantes es una de las neoplasias más controversiales debido a los patrones de crecimiento que pueden presentar. El caso reportado muestra un tumor muy agresivo en una localización clásica, pero clave para la función de la mano. En lugar de tratarla mediante cirugía radical, se planeó y realizó una resección amplia con artrodesis cúbito-carpiana y la reconstrucción microquirúrgica del defecto mediante un colgajo anterolateral de muslo. El abordaje multidisciplinario de las neoplasias óseas repercute positivamente en los pacientes.

Do whole-body vibration exercise and resistance exercise modify concentrations of salivary cortisol and immunoglobulin A?

A single bout of resistance exercise (RE) induces hormonal and immune responses, playing an important role in a long-term adaptive process. Whole-body vibration (WBV) has also been shown to affect hormonal responses. Evidence suggests that combining WBV with RE may amplify hormonal and immune responses due to the increased neuromuscular load. Therefore, the aim of this study was to evaluate salivary cortisol (Scortisol) and salivary IgA (SIgA) concentrations following a RE session combined or not with WBV. Nine university students (22.9 ± 5.1 years, 175.8 ± 5.2 cm, and 69.2 ± 7.3 kg) performed five sets of squat exercise (70 percent one-repetition-maximum) combined (R+V30) or not (R) with WBV at 30 Hz. Saliva samples were obtained before and after exercise. Subjects also rated their effort according to the Borg CR-10 scale (RPE). Data were analyzed by a mixed model. RPE was higher after R+V30 (8.3 ± 0.7) compared to R (6.2 ± 0.7). However, Scortisol (pre: 10.6 ± 7.6 and 11.7 ± 7.6, post: 8.3 ± 6.3 and 10.2 ± 7.2 ng/mL for R and R+V30, respectively) and SIgA concentrations (pre: 98.3 ± 22.6 and 116.1 ± 51.2, post: 116.6 ± 64.7 and 143.6 ± 80.5 µg/mL for R and R+V30, respectively) were unaffected. No significant correlations were observed between Scortisol and RPE (r = 0.45, P = 0.22; r = 0.30, P = 0.42, for R and R+V30, respectively). On the basis of these data, neither protocol modified salivary cortisol or IgA, although RPE was higher after R+V30 than R.

Placas radiográficas amplificadoras: estudo da contribuiçäo dos raios-x secundários / Amplifier radiographic plaques: contribuition study of secundary x-rays

Placas amplificadoras fluorescentes para filmes de raio-X são usadas em radiologia a fim de reduzir a dose de radiação. Estas placas produzem luz visível que aumenta a eficiência do filme. Adicionalmente, raios-X secundários são originados devido à efeito fotoelétrico, espalhamento elástico (Rayleigh( e inelástico (Compton). A taxa de contagem e a distribuição angular destes raios-X foram medidos, mostrando que a razão da radiação secundária pela primária incidente no filme de raio-X é cerca de 20 por cento.

To reduce the radiation dose in radiology, fluorescent intensifying screens for X-ray films are used. They produce visible light which increases the efficiency of the film. ln addition, secondary X-rays arise due to the photoelectric effect, elastic (Rayleigh) and inelastic (Compton) scattering. The counting rate and angular distribution of these X-rays were measured, showing that the ratio of secondary-to-primary radiation incident on the X-ray film is about 20 %