A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.

Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing. Potentially pathogenic variants were filtered and prioritized followed by validation by Sanger sequencing in the two brothers and their mother. A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T; both brothers were hemizygous, and their mother was heterozygous for the variant. The variant is a single nucleotide change that introduces a stop codon in exon 9 (p.R423*), likely producing a truncated variant of the protein. This variant has only been reported twice in the literature, in the setting of finding genetic causes for other conditions. This result supports the clinical value of whole exome sequencing for identification of genetic pathogenic variants. Genetic diagnosis is the essential first step for genetic counseling, preimplantation diagnosis, and research for a potential treatment.

Tratamiento laparoscópico de masas anexiales en el embarazo: reporte de dos casos / Laparoscopic management of adnexal masses in pregnancy: Report of two cases

Resumen ANTECEDENTES Las masas ováricas detectadas durante el embarazo tienden a la desaparición espontánea. Casi siempre se trata de quistes funcionales, foliculares, cuerpos lúteos y quistes tecaluteínicos. CASO CLÍNICO Se reportan dos casos de pacientes en el segundo trimestre del embarazo en quienes se estableció el diagnóstico de masas anexiales en la ecografía del primer trimestre, con aumento del tamaño y dolor. CONCLUSIONES El riesgo de malignidad en pacientes con masas anexiales es muy bajo y el tratamiento quirúrgico está determinado por los síntomas de dolor o crecimiento rápido. En estas pacientes el acceso laparoscópico es factible y debe considerarse una alternativa segura.

Abstract BACKGROUND Ovarian masses detected during pregnancy tend to spontaneously disappear. It is almost always functional cysts, follicular, corpora lutea and tecaluteinic cysts. CLINICAL CASE Two cases of patients in the second trimester of pregnancy were reported in whom the diagnosis of adnexal masses was established in the ultrasound of the first trimester, with an increase in size and pain. CONCLUSIONS The risk of malignancy in patients with adnexal masses is very low and surgical treatment is determined by symptoms of pain or rapid growth. In these patients, laparoscopic access is feasible and should be considered a safe alternative.

Time course and predictors of use of erectile dysfunction treatment in a Veterans Affairs medical center.

The objective of this study was to define the pattern and time course of use of ED treatments in a Veterans Affairs (VA) medical center and to identify clinical or demographic variables that are associated with the use of second- or third-line ED treatments. We identified 702 men treated for ED at the Greater Los Angeles Veterans Affairs between 2007 and 2013. We extracted demographics, Charlson co-morbidity score, pertinent surgical/medication history as well as use of ED treatments from medical records. On multivariate analysis, age over 65 (OR 1.83, 95% CI: 1.31-2.56) and Charlson co-morbidity score of 1 (OR 1.77, 95% CI: 1.13-2.77) and 2+ (OR 2.07, 95% CI: 1.28-3.36) were significantly associated with use of medicated urethral suppositories for erection (MUSE)/intracorporal injections (ICI) compared with PDE5i/erection devices. Across all men who used second- or third-line treatments, median time until receiving MUSE was 0.6 years and median time until receiving ICI/implant was 2 years. We conclude that men who will ultimately use more invasive ED treatments, such as men with more co-morbidities, tend to have a prolonged treatment course. This information may be incorporated into a shared decision-making model for more efficient treatment of ED.

NOTES, hybrid NOTES, NOTES-assisted kidney surgery: what has been achieved so far?

With improved technologies and the development of new techniques, has emerged the concept of "scarless surgery" in an attempt to treat certain diseases obviating the need for incisions to access the peritoneal cavity, resulting in direct benefit to patients and assuming an improvement in quality of life and offering an advantage over conventional laparoscopy. Laparoendoscopic single-site surgery (LESS) and natural orifice transluminal endoscopic surgery (NOTES) are evolutions of laparoscopy, and they are complementary techniques that should be included in this new concept. NOTES is an emerging surgical modality that uses endoscopic instruments through hollow viscera to enter the peritoneal cavity and allow surgical procedures without incisions. The NOTES procedure may provide additional benefits when compared with current minimally invasive procedures. Potential advantages include no skin incisions, improved cosmetic result, reduced postoperative pain, diminished risk of postoperative hernias, and earlier recovery. NOTES surgery has still some inconvenient regarding instrumentals, viewing orientation, control of complications. Attempts to overcome the current limitations of the technique have given rise to the concept of hybrid NOTES, which is performed with the assistance of transabdominal ports for the use of conventional laparoscopy equipment. NOTES is a very promising technique although further investigation is necessary until implementing NOTES surgery in the common clinical practice.

NOTES, NOTES híbrido, cirugía renal asistida por NOTES: ¿Qué se ha conseguido hasta ahora? / Notes, hybrid notes, notes-assisted kidney surgery: what has been achieved so far?

With improved technologies and the development of new techniques, has emerged the concept of "scarless surgery" in an attempt to treat certain diseases obviating the need for incisions to access the peritoneal cavity, resulting in direct benefit to patients and assuming an improvement in quality of life and offering an advantage over conventional laparoscopy. Laparoendoscopic single-site surgery (LESS) and natural orifice transluminal endoscopic surgery (NOTES) are evolutions of laparoscopy, and they are complementary techniques that should be included in this new concept. NOTES is an emerging surgical modality that uses endoscopic instruments through hollow viscera to enter the peritoneal cavity and allow surgical procedures without incisions. The NOTES procedure may provide additional benefits when compared with current minimally invasive procedures. Potential advantages include no skin incisions, improved cosmetic result, reduced postoperative pain, diminished risk of postoperative hernias, and earlier recovery. NOTES surgery has still some inconvenient regarding instrumentals, viewing orientation, control of complications. Attempts to overcome the current limitations of the technique have given rise to the concept of hybrid NOTES, which is performed with the assistance of transabdominal ports for the use of conventional laparoscopy equipment. NOTES is a very promising technique although further investigation is necessary until implementing NOTES surgery in the common clinical practice(AU)

Con la mejora de las tecnologías y el desarrollo de nuevas técnicas ha emergido el concepto de cirugía sin cicatriz en un intento de tratar ciertas enfermedades obviando la necesidad de hacer incisiones para acceder a la cavidad peritoneal, resultando en un beneficio directo para los pacientes y asumiendo una mejoría de la cavidad de vida y ofreciendo una ventaja sobre la laparoscopia convencional. La cirugía laparoendoscópica por puerto único (LESS) y la cirugía endoscópica transluminal por orificios naturales (NOTES) son evoluciones de la laparoscopia y son técnicas complementarias que deberían incluirse en este nuevo concepto. NOTES es una modalidad quirúrgica emergente que utiliza instrumentos endoscópicos a través de vísceras huecas para entrar en la cavidad peritoneal y permitir intervenciones quirúrgicas sin incisiones. La operación NOTES puede ofrecer beneficios adicionales cuando se compara con los procedimientos mínimamente invasivos actuales. Las ventajas potenciales incluyen ausencia de incisiones cutáneas, mejores resultados cosméticos, reducción del dolor postoperatorio, disminución del riesgo de hernias postoperatorias y recuperación más temprana. La cirugía NOTES tiene todavía algunos inconvenientes respecto a instrumental, orientación visual y control de complicaciones. Los intentos para superar las limitaciones actuales de la técnica han dado salida al concepto de NOTES híbrido, que se realiza con la asistencia de puertos abdominales para la utilización de equipo laparoscópico convencional. NOTES es una técnica muy prometedora aunque es necesaria investigación adicional hasta implementar la cirugía NOTES en la práctica clínica habitual(AU)

Raman study of the shockwave effect on collagens.

The Raman spectra (1800-200 cm(-1)) of isolated dried collagen types I and III were recorded at different times after shockwave (SW) application in aqueous media. SWs were applied in a single session. One week after the SW application the vibrational data analysis indicates changes in the conformation of the collagens; orientational changes are also inferred. During the next three weeks collagens tended to recover the conformation and orientation existing before SW application.

Surface-enhanced vibrational spectra of 2-nitrofluorene.

The infrared and Raman spectra of the isolated adsorbate 2-nitrofluorene (2NF) have been registered and the spectral assignment was performed on the basis of both previous data concerning related molecules and density functional theory DFT calculations. The theoretical calculations were compared to the experimental results, obtaining a good agreement with the IR and Raman data. The surface-enhanced infrared and Raman spectra, SEIRA and SERS, of 2NF on different metal surfaces were registered; the best spectra were obtained by using the 633nm laser line. The most probable orientation and organization of the adsorbate on the surface were inferred from the reflection-absorption infrared spectrum RAIRS and SERS and SEIRA data.

Survival characteristics of Salmonella enterica serovar Enteritidis in chicken egg albumen.

Salmonella enterica serovar Enteritidis (SE) is a major foodborne pathogen primarily causing human infection through contaminated chicken eggs. To understand how SE survives in chicken egg albumen, we systematically and quantitatively analysed the survival properties of SE in egg albumen and identified factors affecting its survival. Survival assays of SE in egg indicate that egg albumen restricted the growth of SE. A major factor that controlled SE's growth in egg albumen was iron restriction, since egg albumen supplemented with iron allowed SE to grow, and iron acquisition mutants of SE showed decreased survival in egg albumen. In addition, low pH of albumen, high concentrations of bacteria and low incubation temperatures of bacteria with albumen facilitates the survival of SE. Our results suggest that egg albumen uses multiple mechanisms to control SE including iron limitation, surface interaction and possible enzymatic activities.

Dolor regional complejo de la extremidad superior y accidentes del trabajo / Complex regional pain of upper limb and work accidents

El objetivo de esta investigación fue describir síntomas físicos y psicológicos en accidentados del trabajo que presentaron este cuadro en la extremidad superior. Se realizó un estudio retrospectivo por medio de revisión de fichas de pacientes, que fueron evaluados por la comisión evaluadora de incapacidades del Hospital del Trabajador de Santiago entre 1998 y 2003. Se evaluaron 153 fichas y se registraron datos demográficos, síntomas físicos, psicológicos, tratamientos efectuados, tiempo de tratamiento, retorno al trabajo y tipo de secuelas. En el 66 por ciento de los casos el trauma que ocasionó el dolor regional fue una fractura. Los principales síntomas previos a la distrofia fueron dolor, aumento de volumen, rigidez, eritema, síntomas que se mantuvieron posteriores al diagnóstico de distrofia simpática refleja agregándose sudoración, alteraciones sensitivas e hipertricosis. 57 pacientes fueron referidos a evaluación psiquiátrica. Los principales diagnósticos psiquiátricos fueron trastornos de adaptación, episodio depresivo y el 29 por ciento no presentaban diagnóstico. El tiempo promedio de reposo fue de 211 días. El retorno al mismo trabajo ocurrió en el 58 por ciento de los pacientes, 11,8 por ciento fueron reubicados en otra labor y 22,8 por ciento fueron despedidos. Los pacientes que fueron referidos a salud mental presentaron más días de reposo y mayor incapacidad laboral.

Vibrational and surface-enhanced vibrational spectra of 6-nitrochrysene.

The infrared and Raman spectra of solids and thin solid films of 6-nitrochrysene, its electronic spectra, and resonance Raman scattering (RRS) obtained with UV-laser excitation at 325 nm are reported. The vibrational assignment is supported by ab initio computations at the B3LYP/6-311G(d, p) level of theory. The molecular organization in nanometric films evaporated onto smooth metal surfaces of silver and copper was probed using reflection-absorption infrared spectroscopy (RAIRS). The results of the surface-enhanced Raman scattering (SERS) and surface-enhanced infrared absorption (SEIRA) obtained from nanometric films evaporated onto silver island films are also discussed. It was found that the molecule efficiently interacts with silver island film surfaces, and that the interaction leads to extensive photochemical reaction at the metal surface under laser illumination.

Vibrational spectra and surface-enhanced vibrational spectra of 1-nitropyrene.

The present report on the vibrational spectra of 1-nitropyrene (1NP) describes the infrared and Raman spectra; their interpretation is aided by local density functional theory (DFT) calculations at the B3LYP/6-311G(d, p) level of theory and by the surface-enhanced vibrational spectra (SEVS) with the final objective of trace organic analytical applications. The surface-enhanced Raman scattering (SERS) on silver island films and mixed silver/gold island films was investigated with several laser lines in the visible region. Surface-enhanced infrared absorption (SEIRA) was attempted on silver and gold island films. The interface of the organic 1-NP with smooth metal surfaces of silver and copper was also probed using reflection-absorption infrared (RAIRS) spectra that, in conjunction with the transmission spectra, allow one to extract the molecular orientation in vacuum evaporated thin solid films. Chemical adsorption of 1-NP on silver and further photochemical decomposition of the 1-NP-metal adsorbates was detected with all visible laser lines. Resonance Raman scattering (RRS) using UV-laser excitation at 325 nm was also recorded.

Eficacia terapéutica del Nimesulide en el tratamiento de la dorso lumbalgia de origen traumático / Therapeutic effectiveness of the nimesulide in the treatment of the low back pain of traumatic origin

Se realizó un estudio abierto, no controlado, multicéntrico, realizado con intención de tratar, en 60 pacientes con dorsolumbalgia mecánica, en el cual evaluó la efectividad y seguridad de nimesulide 100 mg dos veces al día, administrado durante 15 días. El tratamiento produjo un alivio significativo en los escores de dolor entre el día de inicio del tratamiento y los 5 días, con un alivio adicional importante entre los días 5 y 10, sin alivios adicionales para el día 15. El tiempo medio para la desaparición total del dolor fue de 8,5 días. La limitación funcional fue evaluada el día 0 y el día 15, obteniéndose una mejoría significativa desde el punto de vista estadístico. Se reportaron efectos adversos en 4 de los pacientes, de los cuales sólo uno ameritó la suspensión del tratamiento