bluuebunny/crossref_metadata_2025 huggingface dataset:
Fracturas en el plano coronal del húmero distal
Authors: Cebrián J.C. , Vicente I. , Vicente M. , De Lucas F.
Published: September 2017

Son lesiones que comprenden las fracturas del cóndilo y/o de la tróclea humeral. Suponen el 1% de las fracturas del codo y el 6% de las fracturas del húmero distal. Las más frecuentes son las fracturas del cóndilo humeral tipo I según la clasificación de Bryan y Morrey. Analizamos 16 casos de este tipo de lesiones tratadas con reducción abierta y osteosíntesis con tornillos y valoramos los resultados funcionales. Obtuvimos la consolidación en el 100 % de los casos con ausencia de dolor o dolor leve. El 87,5 % de los casos presentaron una movilidad activa en flexión entre 120º y 140º, en extensión de –10º a –30º. Prono-supinación completa en 15 casos y un déficit de pronación de 60º y de supinación de 50º en un caso. El 100 % volvieron a su actividad laboral sin restricciones en 11 semanas. En el seguimiento (11,3 meses de media, rango: 4-29), 2 pacientes (12,5%), necesitaron de cirugía por rigidez articular (artrolisis abierta). No hubo ningún caso de necrosis avascular. Subrayamos la importancia de obtener una reducción anatómica suficientemente estable, siendo la osteosíntesis abierta el mejor método para conseguirlo y así permitir la movilización precoz del codo y una la correcta recuperación funcional.
Rizartrosis y síndrome del canal carpiano: tratamiento simultáneo a través de una misma vía de abordaje
Authors: Gómez P. , Díaz A. , Marco F. , Villarroya S. , Recarey F. J.
Published: September 2017

Objetivo: La asociación de rizartrosis y síndrome del canal carpiano es frecuente. El objetivo de este estudio es valorar el resultado de la descompresión del canal carpiano a través de la vía utilizada para realizar la artroplastia de resección-suspensión del trapecio, así como discutir las ventajas e inconvenientes encontrados con esta técnica.

Material y método: Entre 2002 y 2006 se realizaron 16 artroplastias de resección-suspensión que presentaban un síndrome del canal carpiano asociado. Se valoró la resolución de la sintomatología mediante escala analógica visual, la recuperación de la fuerza de agarre de puño y las pinzas pulgar-índice, y la mejoría producida por la intervención en la calidad de vida de los pacientes utilizando la versión española de los cuestionarios DASH (Disabilities of the Arm, Shoulder, and Hand) y CTS (Carpal Tunnel Syndrome).

Resultados: Se revisaron 14 pacientes con un seguimiento medio de 23,7 meses (rango: 10-52). La sintomatología mejoró 8 puntos de media tras la intervención. La fuerza final de agarre de puño y de las pinzas pulpejo-lateral y pulpejo-pulpejo fueron 54,5%, 71,8% y 73,5% de los valores de referencia según edad, género y lado afecto.

El cuestionario DASH mejoró 34,8 puntos, y el CTS 0,8 puntos para la valoración funcional y de 2,5 puntos para la gravedad de síntomas.

Discusión y conclusiones: Aunque el tratamiento del canal carpiano puede realizarse antes, durante o después de la cirugía de la artrosis trapecio-metacarpiana, para disminuir la morbilidad postoperatoria y la persistencia de síntomas se recomienda que ambas patologías sean tratadas en el mismo acto quirúrgico, y si fuera posible a través de la misma incisión. No alarga significativamente la intervención, permite una descompresión efectiva con mínima morbilidad y evita algunas de las complicaciones asociadas a la técnica tradicional.
Luxación recidivante postraumática del tendón extensor carpi ulnaris (ECU) en la muñeca: a propósito de un caso
Authors: Macías S.M. , Castellano J. , Vélez M. , Hernández L. , Rivera E. , Rodríguez A.
Published: September 2017

La luxación o subluxación del tendón del extensor carpi ulnaris es uno de los diagnósticos diferenciales, a tener en cuenta, ante la existencia de dolor en el lado cubital de la muñeca, siendo rara su lesión aislada, por lo que su diagnóstico, puede pasar, con frecuencia, desapercibido.

La lesión ocurre durante una hipersupinación del antebrazo, desviación cubital y flexión palmar de la muñeca. Manifestando el paciente la sintomatología dolorosa tras la reducción del tendón con la pronación, dolor que puede llegar a ser muy incapacitante, con disminución del movimiento de pronosupinación de la muñeca, y disminución de fuerza. Debido a su mecanismo de producción y aparición de los síntomas, el diagnóstico es clínico, pues las pruebas complementarias pueden ser normales. La luxación del tendón, sólo ocurre, ante la ruptura o desinserción de su vaina osteofibrosa propia, o capa profunda del sexto compartimento extensor, a pesar de que el ligamento anular dorsal, o capa superficial del retináculo extensor, permanezca intacto. El tratamiento ha de ser quirúrgico, para reconstruir la vaina o corredera osteofibrosa, obteniéndose resultados satisfactorios.
Neuropatía por compresión de la rama cutánea palmar del nervio mediano
Authors: Aguilella L. , Navarro C.
Published: September 2017

Presentamos un caso clínico de neuropatía por compresión de la rama cutánea palmar del nervio mediano, producido por una anomalía en la inserción del
tendón del músculo palmaris longus, que fue tratado quirúrgicamente, obteniendo una completa desaparición de los síntomas.
Estenosis la primera corredera o enfermedad de De Quervain. Historia
Authors: Renú J. M.ª
Published: September 2017

Se revisa la historia de la estenosis de la primera corredera, conocida con el epónimo de enfermedad de De Quervain.
Enfermedad de De Quervain. Anatomía de la primera corredera osteofibrosa y su influencia en la etiopatogenia de la enfermedad. Revisión histórica y bibliográfica
Authors: Renú J. M.ª
Published: September 2017

Se revisa la descripción anatómica de la primera corredera osteofibrosa desde el punto de vista histórico, y la influencia que tiene el patrón anatómico sobre la etiopatogenia de la enfermedad de De Quervain.

No parece existir una relación evidente entre el patrón anatómico y la enfermedad de De Quervain.
Hamartoma lipofibromatoso de nervio mediano. Caso clínico y revisión bibliográfica
Authors: Cortabarria N. , Manzani J. , Graciano R. , Alvarez M.
Published: September 2017

El hamartoma de nervio mediano es una neoplasia beniga poco frecuente, que afecta predominantemente al nervio mediano de pacientes jóvenes, y se manifiesta generalmente por sintomatología compresiva distal a nivel del mismo, acompañado o no de macrodactilia.

Actualmente se conocen elementos del estudio por imagen patognomónicos, pero continúa siendo un hallazgo intraoperatorio frecuentemente. El tratamiento quirúrgico principal está dirigido únicamente a la descompresión nerviosa, dado los riesgos de lesión nerviosa por resección total o parcial mediante disección interfascicular.

Realizamos la descripción de un caso clínico con compromiso del nervio mediano, sin macrodactilia asociada, que constituyó un hallazgo intraoperatorio y en el cual se realizó una resección parcial de la tumoración, obteniendo una mejoría funcional significativa con una mínima secuela, en relación a su estado previo y actividad. Actualmente este caso tiene un año de evolución postoperatoria sin recidiva. Se realizó un análisis bibliográfico del tema.
Artroplastia total do punho na artrite reumatóide. Resultados dos primeiros 11 doentes operados
Authors: Silva C. , Trigueiros M. , Lemos R. , Claro R. , Santos C. , Castro H.
Published: September 2017

Sendo a artrite reumatóide, a principal indicação para a artroplastia total do punho, pretendemos com o este estudo, analisar a experiência com os implantes utilizados na nossa instituição. Avaliamos retrospectivamente 12 próteses colocadas em 11 doentes, utilizando a Universal 2 em 8 casos e a ReMotion em 4. Com um seguimento médio de 33 meses (rango = 15-59), obtivemos melhoria significativa da dor em todos os doentes; registamos incremento das amplitudes articulares e força, em média de 5,8º na flexão, 15,7º na extensão, 3,3º no desvio radial, 6º no cubital, de 22º na pronação, 26º na supinação e 5,4 e 1 kg para força de preensão da mão e de pinça. O DASH, avaliado na maioria dos doentes, teve melhoria média de 19 pontos. Como complicações houve um hematoma e uma deiscência com necrose dos bordos da ferida cirúrgica; um caso revelou sinais de descelamento do componente radial, no entanto sem repercussões significativas no resultado clínico e não registamos instabilidades. Até à data, nenhum doente foi reoperado. A artroplastia total punho revelou-se um procedimento eficaz no tratamento da artrite reumatóide, com uma baixa taxa de complicações. Apesar de não possuirmos tempo de evolução a longo prazo, os implantes revelaram uma fixação estável ao osso na grande maioria dos casos.
Mão Reumatóide: revisão de 124 Próteses Mcf de Silicone
Authors: Sousa J. M. , Oliveira F. , Claro R. , Cardoso P. , Trigueiros M. , Silva C.
Published: September 2017

Objectivos: O tratamento consensual na doença articular avançada da metacarpofalângica é a artroplastia com interposição de prótese. O objectivo deste trabalho foi avaliar o resultado das artroplastias de silicone realizadas em mãos reumatóides, no serviço de Ortopedia do Hospital de Santo António, nos últimos 15 anos.

Material e método: foram revistas 124 próteses de 26 doentes operados nos últimos 15 anos, avaliando-os clínica e radiologicamente, com aplicação de escalas e algoritmos de avaliação de dor, função pré e pós operatória, resultado estético e satisfação global.

Resultados: A maioria dos doentes apresentava artrite reumatóide, atingimento bilateral sendo avaliado o follow-up entre 18 meses e 13 anos. A indicação cirúrgica predominante foi a dor seguida e acompanhada pelo défice de função. Utilizou-se a prótese de Swanson em 82% dos doentes, com correcção do desvio cubital associado em 47%. Houve uma recuperação média de 28 graus do arco de mobilidade articular e 4 graus na escala decimal de dor. Registaram-se 10 complicações (seis fracturas e quatro luxações de prótese). A satisfação global dos doentes foi positiva (67%) com melhoria das actividades da vida diária e deformidade das mãos.

Conclusão: A prótese de silicone demonstrou ser uma boa opção de tratamento para a doença articular reumatóide das MCF com excelentes resultados funcionais, estéticos e dor.
La prueba de claudicación por rascado para diagnosticar lesiones de nervio periférico
Authors: González-Trevizo G. , Barbour J. , Mackinnon S. E. , De Lucas F. , Romero M.
Published: September 2017

Introducción: La prueba de claudicación por rascado es una prueba provocativa recientemente descrita para el diagnóstico de compresiones nerviosas periféricas

Método: El examinador se coloca sentado frente al paciente, primero sin provocar estimulo previo, y le intenta rotar internamente los hombros a lo que el paciente se resiste. Acto seguido se rasca la piel del paciente suavemente sobre el área de la compresión nerviosa, mientras el paciente se resiste a una rotación interna bilateral de los hombros con los codos flexionados, si el paciente tiene alodinia debido a una neuropatía compresiva, se obtiene una momentánea pérdida de la resistencia muscular.

Discusión: Los resultados obtenidos son en base a los sitios de compresión del nervio periférico, y son objetivos porque el examinador percibe el colapso del paciente

Conclusión: Esta prueba puede ser reproducida con facilidad una vez que se pase la curva de aprendizaje. Se esta trabajando en demostrar exactamente el mecanismo fisiológico de como funciona, y también se están analizando otras partes del cuerpo en donde se puede obtener el colapso.
Intramedullary Arachnoid Cyst of the Cervical Spine: Case Report and Literature Review
Authors: Baeesa Saleh , Aljameely Abdalrahman
Published: September 2017

Intramedullary arachnoid cysts of the spinal cord are extremely rare benign lesions of unclear pathogenesis. To our knowledge, only 21 cases were reported in the literature, 10 of which involved the cervical spine. We report the case of a 47-year-old female who presented with a symptomatic spinal intramedullary arachnoid cyst (SIAC). Magnetic resonance imaging scan of the cervical spine demonstrated an intramedullary arachnoid cyst at C3-C5 level. The patient had a cervical laminectomy and cysto-subarachnoid shunt with rapid and excellent clinical recovery and no recurrence at 2-year follow-up.

Intramedullary arachnoid cysts should be considered in the differential diagnosis of intramedullary cystic lesions of the spinal cord. Their pathogenesis and natural history are not well defined in the literature. However, a cysto-subarachnoid shunt can be performed with excellent long-term clinical and radiological results.
Centralization of Pediatric Surgery in Hungary
Authors: Pintér András , Vajda Peter
Published: September 2017

Surgical management of the developmental malformations of newborns, infants, and children needs centralization not only from a professional point of view but because of financial reasons, too. During the past 2-3 decades, the reduction in the number of live births in Hungary and the increase in the changing of professional needs have witnessed the centralization of the more expensive, fragmented intensive/surgical care. In a relatively small country, like Hungary, centralization is essential.
Artroplastia de suspensión-interposición de Zancolli modificada
Authors: Fahandezh-Saddi H. , Ríos A. , Villanueva M. , Guijarro D. , López D. , Caravaca G. , del Cerro M.
Published: September 2017

La artrosis de la base del pulgar es una de las patologías más frecuentes en la mano. Tras el tratamiento conservador, son muchos los tratamientos descritos para el tratamiento de la misma (artrodesis, artroplastia, artroplastia de interposición…). En el presente trabajo presentamos la técnica de Zancolli modificada para el tratamiento de la rizartrosis, Es una técnica quirúrgica fiable y reproducible para el tratamiento de la rizartrosis en estadio III-IV, con buenos resultados y bajo índice de complicaciones. Hemos desarrollado algún cambio técnico de la técnica original, que permite realizar la cirugía con una menor incisión y obtener tendones abductores accesorios de mayor longitud. Esto permite disminuir la morbilidad quirúrgica y en cierto modo disminuir las complicaciones, aumentando el volumen de suspensión-interposición. Una de las ventajas principales es el corto tiempo de inmovilización y los buenos porcentajes de pacientes libres de dolor (95%) con una pinza estable y fuerte.
Patientenkompetenz, Empowerment und Selbsthilfe bei Frauen mit Brustkrebs im Frühstadium: Begriffsbestimmungen, Statuserhebung und Handlungsbedarf
Authors: Nagel Gerd , Schreiber Delia , Marschner Norbert
Published: September 2017

Hintergrund Kompetente Krebspatienten glauben an die Wirksamkeit eigener Heilkräfte zur Krankheitsbewältigung. Seit 10–20 Jahren finden sie damit auch im Gesundheitswesen Gehör.

Fragestellung Wurden die Erwartungen kompetenter Patienten vom Gesundheitswesen aufgegriffen? Decken sich die Vorstellungen speziell von Frauen mit Brustkrebs über Ziele, Inhalte und Nutzen der Selbsthilfe mit denjenigen von Healthcare-Professionals?

Methodik Literatur-Review, Umfragen, Workshops, Erfahrungen aus der Beratungspraxis.

Ergebnisse Die Akteure im Gesundheitswesen haben bereits sehr viel zur Förderung kompetenter Patienten getan. Die Schwerpunkte ihrer Angebote liegen auf Beratungen, Informationen und Informationstechnologien zur Verbesserung des Wissensstandes von Patienten. Es gibt jedoch noch keinen Konsens zum langfristigen Nutzen des Patienten-Empowerment.

Diskussion Handlungsbedarf besteht v. a. in Bezug auf die Entwicklung und Validierung des Theorie-geleiteten, systemischen Empowerment-Coachings, auf die Langzeiteffekte von Interventionen zur Förderung von Patientenkompetenz, Empowerment und Selbstwirksamkeitserwartung sowie auf die Erforschung möglicher Synergien zwischen Patientenressourcen und Endpunkten der Tumortherapie.
Incidental colorectal focal 18F-FDG uptake: a novel indication for colonoscopy
Authors: Rigault Eugénie , Lenoir Laurence , Bouguen Guillaume , Pagenault Mael , Lièvre Astrid , Garin Etienne , Siproudhis Laurent , Bretagne Jean-François
Published: September 2017

Background and study aims The relevance of incidental colorectal focal 18F-FDG PET/CT uptake is debatable. All patients who were referred for colonoscopy because of incidental colonic focal FDG uptake were included in this retrospective study.

Patients and methods PET/CT imaging characteristics were reviewed by a nuclear physician who was blinded to endoscopic and histopathological findings to determine the location of FDG uptake sites and to measure the maximum standardized uptake values (SUVmax) and metabolic volume (MV). Endoscopic findings were categorized as malignant lesions (ML), high-risk polyps (HRP), low-risk polyps (LRP) or other non-neoplastic lesions (NNL).

Results Seventy patients with 84 foci of FDG uptake were included. The proportions of true-positive (lesions found at colonoscopy at the same location) and false-positive (no lesion at colonoscopy) PET/CT findings were 65.5 % (n = 55) and 34.5 % (n = 29). Median SUVmax values did not differ between true-positive and false-positive findings (P = 0.27). Median MV30 values differed significantly between true-positive (5.5 cm3, [3.3 – 10.9 cm3]) and false-positive (9.7 cm3, [5.2 – 40.8 cm3]) findings (P = 0.015). Among the 55 true-positive FDG uptake sites, there were 14 (25.5 %) malignant lesions, 30 (54.5 %) HRP, 4 (7.3 %) LRP, and 7 (12.7 %) NNL. Median MV30 values differed significantly between advanced neoplasia (5.0 cm3, [2.9 – 9.7 cm3]) and other endoscopic findings (9.4 cm3, [5.2 – 39.8 cm3]) (P = 0.001); the AUROC was 0.71. By per-colonic segment analysis, the distribution of true-positive, false-negative, false-positive, and true-negative FDG PET/CT findings was as follows: 21.5 %, 14.2 %, 11.5 %, and 52.8 %, respectively.

Conclusion Our study demonstrates that follow-up complete colonoscopy is mandatory in all patients with incidental colorectal focal 18F-FDG PET/CT uptake.
Relevanz myofaszialer Ketten in der Bewegungstherapie muskuloskeletaler Erkrankungen
Authors: Krause F. , Wilke J.
Published: September 2017

Nach neuen Erkenntnissen der Faszienforschung sind die Muskeln des menschlichen Körpers durch kollagenes Bindegewebe miteinander verbunden.
Diese Verbindung scheint mechanische Relevanz zu besitzen. Weder die morphologische Kontinuität noch der Krafttransfer lassen sich jedoch
auf die Wirkung myofaszialer Ketten reduzieren. Vielmehr fungiert das menschliche Fasziensystem als multidirektionales Kontinuum.

Obwohl für konkrete Therapieverfahren bislang nur schwache Evidenz vorliegt, scheint ein holistischer Ansatz sinnvoll, der den
Therapieblickwinkel nicht auf den Ort der Symptomlokalisation einschränkt.
Quantifying physical values from just an image
Authors: Hall Shannon
Published: September 2017

A new machine learning algorithm allows scientists to extract numerical values for a range of physical properties from images in a reliable and reproducible way.
Seasonal activity patterns of bats in North Sydney, New South Wales: implications for urban bat monitoring programs
Authors: Gonsalves Leroy , Law Bradley
Published: September 2017

Behavioural and physiological traits of bats may influence seasonal bat activity in urban areas. To examine this, we used acoustic surveys to monitor insectivorous bat activity in urban bushland and at two day-roosts of Miniopterus orianae oceanensis between September 2013 and August 2014. Day-roosts were also assessed for potential as swarming sites and monthly estimates of colony size were made at one of these, while radio-tracking was used to identify additional roosts. Acoustic surveys identified seven species, with Mi. o. oceanensis and Chalinolobus gouldii most commonly recorded. Nightly species richness was lower in winter than in other seasons, while total bat activity was greatest in autumn, reflecting increased activity by C. gouldii and Mi. o. oceanensis in this season. One Mi. o. oceanensis day-roost was used from autumn to early spring, with numbers of bats increasing from ~50 to 300 and high fidelity shown to this site by radio-tagged bats in autumn, while nightly activity at another day-roost was suggestive of swarming. Seasonal differences in bat activity were species-specific and, for Mi. o. oceanensis, corresponded to changes in population size as bats migrated to and from Sydney to meet reproductive and overwintering requirements. We recommend urban bat monitoring programs sample multiple seasons to adequately document trends in activity for all bat species.
Myotubularins, PtdIns5P, and ROS in ABA-mediated stomatal movements in dehydrated Arabidopsis seedlings
Authors: Nagpal Akanksha , Hassan Ammar , Ndamukong Ivan , Avramova Zoya , Baluška František
Published: September 2017

Myotubularins (MTMs) are lipid phosphoinositide 3-phosphate phosphatases and the product of their enzyme activity – phosphoinositide 5-phosphate (PtdIns5P) – functions as a signalling molecule in pathways involved in membrane dynamics and cell signalling. Two Arabidopsis genes, AtMTM1 and AtMTM2, encode enzymatically active phosphatases but although AtMTM1 deficiency results in increased tolerance to dehydration stress and a decrease in cellular PtdIns5P, the role of AtMTM2 is less clear, as it does not contribute to the PtdIns5P pool upon dehydration stress. Here we analysed the involvement of AtMTM1, AtMTM2 and PtdIns5P in the response of Arabidopsis seedlings to dehydration stress/ABA, and found that both AtMTM1 and AtMTM2 were involved but affected oppositely stomata movement and the accumulation of reactive oxygen species (ROS, e.g. H2O2). Acting as a secondary messenger in the ABA-induced ROS production in guard cells, PtdIns5P emerges as an evolutionarily conserved signalling molecule that calibrates cellular ROS under stress. We propose the biological relevance of the counteracting AtMTM1 and AtMTM2 activities is to balance the ABA-induced ROS accumulation and cellular homeostasis under dehydration stress.
Network approach to patterns in stratocumulus clouds
Authors: Glassmeier Franziska , Feingold Graham
Published: September 2017

Significance

Large parts of the subtropical oceans are covered by stratocumulus (Sc) cloud decks that self-organize into honeycomb-like hexagonal patterns. These clouds cool the planet by reflecting solar radiation. Sc patterns are controlled by processes from the micrometer to the kilometer scale. Climate models cannot resolve these length scales, such that Sc clouds are a large uncertainty for climate projections. Inspired by similar patterns in biology and physics, we analyze Sc patterns as dynamic cellular networks. This perspective enables us to translate detailed knowledge of cloud processes into a simple network model. Our model offers a fundamental explanation of the structure and arrangement of Sc clouds and may contribute to improving their representation in climate models.
Strain-induced martensite reversion in 18Cr–8Ni steel – transmission Kikuchi diffraction study
Authors: Cios G. , Tokarski T. , Bała P.
Published: September 2017

Reverse transformation of strain-induced martensite (SIM) was studied in the 18Cr–8Ni stainless steel. Microstructure analysis was performed on samples in an as-deformed state and after reversion annealing at 873 and 973 K, using the transmission Kikuchi diffraction. The primary, as well as reversed, austenite possesses the Kurdjumov–Sachs crystallographic orientation relationship, with respect to the SIM. The reverted austenite keeps one orientation within all reverted grains, regardless of the applied heating procedure, where the amount of reverted austenite depends only on the annealing temperature.
Global and regional cardiac function in lifelong endurance athletes with and without myocardial fibrosis
Authors: Eijsvogels Thijs M. H. , Oxborough David L. , O'Hanlon Rory , Sharma Sanjay , Prasad Sanjay , Whyte Greg , George Keith P. , Wilson Mathew G.
Published: September 2017

The aim of the present study was to compare cardiac structure as well as global and regional cardiac function in athletes with and without myocardial fibrosis (MF). Cardiac magnetic resonance imaging with late gadolinium enhancement was used to detect MF and global cardiac structure in nine lifelong veteran endurance athletes (58 ± 5 years, 43 ± 5 years of training). Transthoracic echocardiography using tissue‐Doppler and myocardial strain imaging assessed global and regional (18 segments) longitudinal left ventricular function. MF was present in four athletes (range 1–8 g) and not present in five athletes. MF was located near the insertion points of the right ventricular free wall on the left ventricle in three athletes and in the epicardial lateral wall in one athlete. Athletes with MF demonstrated a larger end diastolic volume (205 ± 24 vs 173 ± 18 ml) and posterior wall thickness (11 ± 1 vs 9 ± 1 mm) compared to those without MF. The presence of MF did not mediate global tissue velocities or global longitudinal strain and strain rate; however, regional analysis of longitudinal strain demonstrated reduced function in some fibrotic regions. Furthermore, base to apex gradient was affected in three out of four athletes with MF. Lifelong veteran endurance athletes with MF demonstrate larger cardiac dimensions and normal global cardiac function. Fibrotic areas may demonstrate some co‐localised regional cardiac dysfunction, evidenced by an affected cardiac strain and base to apex gradient. These data emphasize the heterogeneous phenotype of MF in athletes.
Zonda is a novel early component of the autophagy pathway inDrosophila
Authors: Melani Mariana , Valko Ayelén , Romero Nuria M. , Aguilera Milton O. , Acevedo Julieta M. , Bhujabal Zambarlal , Perez-Perri Joel , de la Riva-Carrasco Rocío V. , Katz Maximiliano J. , Sorianello Eleonora , D’Alessio Cecilia , Juhász Gabor , Johansen Terje , Colombo María I. , Wappner Pablo
Published: September 2017

Autophagy is an evolutionary conserved process by which eukaryotic cells undergo self-digestion of cytoplasmic components. Here we report that a novel Drosophila immunophilin, which we have named Zonda, is critically required for starvation-induced autophagy. We show that Zonda operates at early stages of the process, specifically for Vps34-mediated phosphatidylinositol 3-phosphate (PI3P) deposition. Zonda displays an even distribution under basal conditions and, soon after starvation, nucleates in endoplasmic reticulum–associated foci that colocalize with omegasome markers. Zonda nucleation depends on Atg1, Atg13, and Atg17 but does not require Vps34, Vps15, Atg6, or Atg14. Zonda interacts physically with Atg1 through its kinase domain, as well as with Atg6 and Vps34. We propose that Zonda is an early component of the autophagy cascade necessary for Vps34-dependent PI3P deposition and omegasome formation.
Genome-wide screen of gamma-secretase–mediated intramembrane cleavage of receptor tyrosine kinases
Authors: Merilahti Johannes A. M. , Ojala Veera K. , Knittle Anna M. , Pulliainen Arto T. , Elenius Klaus
Published: September 2017

Receptor tyrosine kinases (RTKs) have been demonstrated to signal via regulated intramembrane proteolysis, in which ectodomain shedding and subsequent intramembrane cleavage by gamma-secretase leads to release of a soluble intracellular receptor fragment with functional activity. For most RTKs, however, it is unknown whether they can exploit this new signaling mechanism. Here we used a system-wide screen to address the frequency of susceptibility to gamma-secretase cleavage among human RTKs. The screen covering 45 of the 55 human RTKs identified 12 new as well as all nine previously published gamma-secretase substrates. We biochemically validated the screen by demonstrating that the release of a soluble intracellular fragment from endogenous AXL was dependent on the sheddase disintegrin and metalloprotease 10 (ADAM10) and the gamma-secretase component presenilin-1. Functional analysis of the cleavable RTKs indicated that proliferation promoted by overexpression of the TAM family members AXL or TYRO3 depends on gamma-secretase cleavage. Taken together, these data indicate that gamma-secretase–mediated cleavage provides an additional signaling mechanism for numerous human RTKs.
Distinct roles of the polarity factors Boi1 and Boi2 in the control of exocytosis and abscission in budding yeast
Authors: Masgrau Aina , Battola Andrea , Sanmartin Trinidad , Pryszcz Leszek P. , Gabaldón Toni , Mendoza Manuel
Published: September 2017

Boi1 and Boi2 (Boi1/2) are budding yeast plasma membrane proteins that function in polarized growth, and in cytokinesis inhibition in response to chromosome bridges via the NoCut abscission checkpoint. How Boi1/2 act in these two distinct processes is not understood. We demonstrate that Boi1/2 are required for a late step in the fusion of secretory vesicles with the plasma membrane of the growing bud. Cells lacking Boi1/2 accumulate secretory vesicles and are defective in bud growth. In contrast, Boi2 is specifically required for abscission inhibition in cells with chromatin bridges. The SH3 domain of Boi2, which is dispensable for bud growth and targets Boi2 to the site of abscission, is necessary and sufficient for abscission inhibition. Gain of function of the exocyst, a conserved protein complex involved in tethering of exocytic vesicles to the plasma membrane, rescued secretion and bud growth defects in boi mutant cells, and abrogated NoCut checkpoint function. Thus Boi2 functions redundantly with Boi1 to promote the fusion of secretory vesicles with the plasma membrane at sites of polarized growth, and acts as an abscission inhibitor during cytokinesis in response to chromatin bridges.
Lateral Compression–I Pelvic Ring Injury: Not Benign to the Developing Fetus
Authors: Weinlein John C. , Mashru Rakesh P. , Perez Edward A. , Johnson Sara E.
Published: September 2017

Objective:

To determine whether certain patterns of pelvic ring injury are associated with more frequent intrauterine fetal demise (IUFD).

Design:

Retrospective review.

Setting:

Level 1 trauma center.

Patients/Participants:

Of 44 pregnant patients with pelvic and/or acetabular fractures, 40 had complete records that allowed determination of fetal viability. χ2 tests were used for categorical variables (Fisher exact tests when expected cell counts were fewer than 5), and t tests were used for continuous variables.

Main Outcome Measurements:

Fetal or maternal death.

Results:

Sixteen patients had isolated acetabular fractures, 25 had isolated pelvic ring injuries, and 3 had acetabular fractures with concomitant pelvic ring injuries. Maternal and fetal mortality were 2% and 40%, respectively. No patients with isolated acetabular fractures experienced IUFD, compared with 68% (15/22) of those with isolated pelvic ring injuries (P < 0.0001). Eight (53%) of 15 IUFDs were associated with lateral compression (LC)-I pelvic ring injuries (Orthopaedic Trauma Association/Arbeitsgemeinschaft für Osteosynthesefragen 61-B2). Of the 13 LC-I pelvic ring injuries, 8 (62%) resulted in IUFD. Pelvic ring stability, Young–Burgess classification, and operative treatment were not associated with IUFD. Maternal Glasgow Coma Scale (average 13.2) and Injury Severity Score (average 18.2) at admission were predictive of IUFD.

Conclusions:

The most frequent pelvic fractures in gravid trauma patients are LC-I. Although the rate of maternal mortality was low, the risk of IUFD was quite high (40%). LC-I pelvic ring injuries often had catastrophic outcomes, with IUFD in 62% of cases.

Level of Evidence:

Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence.
Long-Term Sexual Function After Obstetric Anal Sphincter Injuries
Authors: O'Shea Michele S. , Lewicky-Gaupp Christina , Gossett Dana R.
Published: September 2017

Objectives

Obstetric anal sphincter injuries (OASIS) are associated with severe short and long-term morbidities, although little is known about the long-term sexual function or satisfaction of women and partners of women with history of OASIS. The objective of this study was to describe the long-term sexual function and satisfaction of women who previously sustained OASIS and to assess sexual satisfaction among their male partners.

Methods

This was a follow-up study of participants enrolled in the For Optimal Recovery: Care After Severe Tears (FORCAST) prospective cohort study of women with a history of OASIS after delivery of a full-term singleton infant between 2011 and 2013. A total of 47 women and 25 male partners at a mean of 45 months ± 8 months after incident delivery completed online validated questionnaires assessing current sexual functioning and satisfaction. The Female Sexual Functioning Index (FSFI) was completed by female participants, whereas the Golombok-Rust Inventory of Sexual Satisfaction (GRISS) was completed by both female participants and their male partners.

Results

Nearly half (47%) of women met the criteria for female sexual dysfunction according to the Female Sexual Functioning Index. One-third of women (34%) had an overall GRISS score of 5 or greater, indicating sexual dysfunction. Sixty-two percent of women had a subsequent delivery. Seven male partners (28%) met the criteria for sexual dysfunction according to the GRISS. The most problematic GRISS subscale reported by both men and women was that of infrequency of intercourse.

Conclusions

Even 3 years after sustaining OASIS, up to half of women and many male partners meet the criteria for sexual dysfunction. Future studies including women without history of OASIS are needed to further investigate the role OASIS may play in the development of long-term sexual dysfunction.
Efficacy of FemiScan Pelvic Floor Therapy for the Treatment of Anal Incontinence
Authors: Segal Shimon , Morse Abraham , Sangal Purnima , Hirsch Nathan , Kohli Neeraj
Published: September 2017

Objectives

Pelvic floor muscle training can be effective in alleviating anal incontinence; however, women need instruction, motivation, and feedback to gain optimal benefit. The FemiScan Pelvic Floor Therapy System is approved in the United States and European Union for the treatment of urinary incontinence. It uses office electromyography and an in-home programmable device. This study was undertaken to document the effect of FemiScan on anal incontinence symptoms of women who completed a physician–supervised program.

Methods

Women referred for treatment of urinary symptoms who also reported anal incontinence symptoms were included in the analysis. We collected patient demographics, electromyographic measurements, and responses to subjective questions about the status of their anal incontinence.

Results

Forty eight (55%) of 88 patients who started treatment completed the 8-visit protocol. No adverse events were reported. Mean age was 54.8 ± 12.0 years. There was a statistically significant increase in the mean maximal response comparing the first and final electromyographic measurements obtained during the first and last office visits: left side, 13.7 ± 9.3 μV versus 23.2 ± 13.5 μV, P < 0.001 and right side, 14.6 ± 2.4 μV versus 22.7 ± 10.6 μV, P < 0.001 were analyzed separately. Fifty six percent reported that they were 100% free of symptoms, and 77% considered their symptoms at least 80% improved. Colorectal Anal Distress Inventory results demonstrated a statistically significant improvement when comparing the first and last visit (28.9 ± 17.9 vs 2.1 ± 7.8, P < 0.001).

Conclusions

FemiScan appears to be a safe and effective treatment for anal incontinence with concomitant increased pelvic floor electromyographic activity.
Rectoneovaginal Fistula in a Transgender Woman Successfully Repaired Using a Buccal Mucosa Graft
Authors: Elmer-DeWitt Molly Abbott , Wood Hadley M. , Hull Tracy , Unger Cecile A.
Published: September 2017

Background

Rectoneovaginal fistulae (RnVFs) are abnormal connections between the rectum and a surgically created neovagina. Although very uncommon, they confer significant morbidity in patients and may require a multidisciplinary team approach to the repair. Risk factors for RnVF include rectal injury at the time of neovaginoplasty, malignancy in the neovagina, trauma (iatrogenic or otherwise), radiation, and neovaginal revision surgery.

Case Description

The patient is a 64-year-old transgender woman with recurrent RnVF following penile skin inversion neovaginoplasty, which was complicated by an intraoperative rectal injury. After failing an initial attempt at repair, the fistula was successfully repaired with a buccal mucosa graft.

Conclusions

In some cases, RnVFs following vaginoplasty surgery for gender affirmation may be repaired successfully with a buccal mucosa graft.
OxLDL Inhibits Brain Angiogenesis in Dose Dependent Manner via Reducing Level of VEGF and Angiopoietin-2: A Comprehensive Study
Authors: Alniqrish Tasneem , Khawaldeh Saed
Published: September 2017

Hyperlipidemia is recognized as a major health problem worldwide, moreover, it is considered as a major risk factor for cardiovascular and cerebrovascular diseases development. Since the majority of studies were performed to investigate the effect of hyperlipidemia on the angiogenesis of peripheral derived endothelial cell, this study aims to assess the effect of hyperlipidemia on the angiogenic response of human brain cells in a fast, easy and inexpensive method. Furthermore, it aims also to assess the involvement of Vascular Endothelial Growth Factor (VEGF) and angiopoietin. To achieve this aim, human Brain Microvascular Endothelial Cells (hBMECs) were treated with different concentration of Oxidized Low Density Lipoprotein (OxLDL) (1-100 μg/ml) for 24 hours. Migration rate and tube formation as markers of angiogenesis were performed, also Coomassie blue was used to detect protein level. OxLDL was found to inhibit brain angiogenesis in dose dependent manner over a wide range of concentrations (1-100 μg/ml). Using 1 μg/ml of OxLDL made minimum reduction of 10% whereas using 100 μg/ml of OxLDL resulted 70-80% reduction in the angiogenic potential of hBMECs within 24 hours. Moreover, OxLDL mediated its effect through reduced VEGF level and this effect was partially reversed by administered 5 ng/ml of VEGF. Additionally, OxLDL reduced the level of angiopoitin-2. This further supports the assumption that OxLDL has an anti-angiogenic effect in hBMECs and surely in the brain also. As a conclusion, OxLDL inhibits brain angiogenesis in dose dependent manner through reducing the level of angiogenic factor in human brain microvascular endothelial cells. We achieved our goal of having a preliminary indicator of brain angiogenesis under hyperlipidemia by using a simple but well-developed technique that incorporated the minimal number of tests and the cheapest.
Quantification of frequency-dependent genetic architectures and action of negative selection in 25 UK Biobank traits
Authors: Schoech Armin P , Jordan Daniel , Loh Po-Ru , Gazal Steven , O’Connor Luke , Balick Daniel J , Palamara Pier F , Finucane Hilary K , Sunyaev Shamil R , Price Alkes L
Published: September 2017

Understanding the role of rare variants is important in elucidating the genetic basis of human diseases and complex traits. It is widely believed that negative selection can cause rare variants to have larger per-allele effect sizes than common variants. Here, we develop a method to estimate the minor allele frequency (MAF) dependence of SNP effect sizes. We use a model in which per-allele effect sizes have variance proportional to [p(1−p)]α, wherepis the MAF and negative values ofαimply larger effect sizes for rare variants. We estimateαby maximizing its profile likelihood in a linear mixed model framework using imputed genotypes, including rare variants (MAF >0.07%). We applied this method to 25 UK Biobank diseases and complex traits (N = 113,851). All traits produced negativeαestimates with 20 significantly negative, implying larger rare variant effect sizes. The inferred best-fit distribution of trueαvalues across traits had mean −0.38 (s.e. 0.02) and standard deviation 0.08 (s.e. 0.03), with statistically significant heterogeneity across traits (P = 0.0014). Despite larger rare variant effect sizes, we show that for most traits analyzed, rare variants (MAF <1%) explain less than 10% of total SNP-heritability. Using evolutionary modeling and forward simulations, we validated theαmodel of MAF-dependent trait effects and estimated the level of coupling between fitness effects and trait effects. Based on this analysis an average genome-wide negative selection coefficient on the order of 10−4or stronger is necessary to explain theαvalues that we inferred.
Population networks from DNA sequences: methodological developments
Authors: Schaeffer B. , Nicolas V. , Austerlitz F. , Larédo C.
Published: September 2017

Several classes of methods have been proposed for inferring the history of populations from genetic polymorphism data. As connectivity is a key factor to explain the structure of populations, several graph-based methods have been developed to this aim, using population genetics data. Here we propose an original method based on graphical models that uses DNA sequences to provide relationships between populations. We tested our method on various simulated data sets, describing typical demographic scenarios, for different parameters values. We found that our method behaved noticeably well for realistic demographic evolutionary processes and recovered suitably the migration processes. Our method provides thus a complementary tool for investigating population history based on genetic material.
Fish perform like mammals and birds in inhibitory motor control tasks
Authors: Lucon-Xiccato Tyrone , Gatto Elia , Bisazza Angelo
Published: September 2017

Inhibitory control is an executive function that positively predicts performance in several cognitive tasks and has been considered typical of vertebrates with large and complex nervous systems such as primates. However, evidence is growing that some fish species have evolved complex cognitive abilities in spite of their relatively small brain size. We tested whether fish might also show enhanced inhibitory control by subjecting guppies,Poecilia reticulata, to the motor task used to test warm-blooded vertebrates. Guppies were trained to enter a horizontal opaque cylinder to reach a food reward; then, the cylinder was replaced by a transparent one, and subjects needed to inhibit the response to pass thought the transparency to reach the food. Guppies performed correctly in 58 % of trials, a performance fully comparable to that observed in most birds and mammals. In experiment 2, we tested guppies in a task with a different type of reward, a group of conspecifics. Guppies rapidly learned to detour a transparent barrier to reach the social reward with a performance close to that of experiment 1. Our study suggests that efficient inhibitory control is shown also by fish, and its variation between-species is only partially explained by variation in brain size.
Stochastic dispersal increases the rate of upstream spread: a case study with green crabs on the northwest Atlantic coast
Authors: Gharouni A. , Barbeau M.A. , Chassé J. , Wang L. , Watmough J.
Published: September 2017

Dispersal heterogeneity is an important process that can compensate for downstream advection, enabling aquatic organisms to persist or spread upstream. Our main focus was the effect of year-to-year variation in larval dispersal on invasion spread rate. We used the green crab,Carcinus maenas, as a case study. This species was first introduced over 200 years ago to the east coast of North America, and once established has maintained a relatively consistent spread rate against the dominant current. We used a stage-structured, integro-difference equation model that couples a demographic matrix for population growth and dispersal kernels for spread of individuals within a season. The kernel describing larval dispersal, the main dispersive stage, was mechanistically modeled to include both drift and settlement rate components. It was parameterized using a 3-dimensional hydrodynamic model of the Gulf of St Lawrence, which enabled us to incorporate larval behavior, namely vertical swimming. Dispersal heterogeneity was modeled at two temporal scales: within the larval period (months) and over the adult lifespan (years). The kernel models variation within the larval period. To model the variation among years, we allowed the kernel parameters to vary by year. Results indicated that when dispersal parameters vary with time, knowledge of the time-averaged dispersal process is insufficient for determining the upstream spread rate of the population. Rather upstream spread is possible over a number of years when incorporating the yearly variation, even when there are only a few “good years” featured by some upstream dispersal among many “bad years” featured by only downstream dispersal. Accounting for annual variations in dispersal in population models is important to enhance understanding of spatial dynamics and population spread rates. Our developed model also provides a good platform to link the modeling of larval behavior and demography to large-scale hydrodynamic models.
Lipid droplet and peroxisome biogenesis occur at the same ER subdomains
Authors: Joshi Amit S. , Choudhary Vineet , Levine Tim P. , Prinz William A.
Published: September 2017

Nascent lipid droplet (LD) formation occurs in the ER membrane1-4. It is not known whether LD biogenesis occurs stochastically in the ER or at subdomains with unique protein and lipid composition. We previously identified ER subdomains inS. cerevisiaethat contain Pex30, a reticulon-like ER-resident membrane protein5. There are ~25 Pex30-containing puncta in the ER per cell. These sites are regions where preperoxisomal vesicles (PPVs) are generated5. Here we show that Pex30 subdomains are also the location where most nascent LDs form. Mature LDs remain associated with Pex30 subdomains and the same Pex30 subdomain can simultaneously associate with a LD and a PPV. Pex30 subdomains become highly enriched in diacylglycerol (DAG) during LD biogenesis, indicating they have a unique lipid composition. We find that in higher eukaryotes multiple C2 domain containing transmembrane protein (MCTP2) is the functional homologue of Pex30; MCTP2 resides in ER subdomains where most nascent LD biogenesis occurs and that are often associated with peroxisomes. Together, these findings indicate that most LDs and PPVs form and remain associated with conserved ER subdomains and suggest a link between LD and peroxisome biogenesis.
MASCOT: Parameter and state inference under the marginal structured coalescent approximation
Authors: Müller Nicola F. , Rasmussen David A. , Stadler Tanja
Published: September 2017

Motivation

The structured coalescent is widely applied to study demography within and migration between sub-populations from genetic sequence data. Current methods are either exact but too computationally inefficient to analyse large datasets with many states, or make strong approximations leading to severe biases in inference. We recently introduced an approximation based on weaker assumptions to the structured coalescent enabling the analysis of larger datasets with many different states. We showed that our approximation provides unbiased migration rate and population size estimates across a wide parameter range.

Results

We here extend this approach by providing a new algorithm to calculate the probability of the state of internal nodes that includes the information from the full phylogenetic tree. We show that this algorithm is able to increase the probability attributed to the true node states. Furthermore we use improved integration techniques, such that our method is now able to analyse larger datasets, including a H3N2 dataset with 433 sequences sampled from 5 different locations.

Availability

The here presented methods are combined into the BEAST2 package MASCOT, the Marginal Approximation of the Structured COalescenT. This package can be downloaded via the BEAUti package manager. The source code is available athttps://github.com/nicfel/Mascot.git.