Fostering collaborative research for rare genetic disease: The example of Niemann-Pick type C disease

Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. Here we describe a rare, fatal brain disorder known as Niemann-Pick type C (NPC) and an innovative research collaborative known as Support of Accelerated Research for NPC (SOAR-NPC) which illustrates one pathway through which knowledge of a rare disease and its possible treatments are being successfully advanced. Use of the “SOAR” mechanism, we believe, offers a blueprint for similar advancement for many other rare disorders

Amplification of asynchronous inhibition-mediated synchronization by feedback in recurrent networks

Synchronization of 30-80 Hz oscillatory activity of the principle neurons in the olfactory bulb (mitral cells) is believed to be important for odor discrimination. Previous theoretical studies of these fast rhythms in other brain areas have proposed that principle neuron synchrony can be mediated by short-latency, rapidly decaying inhibition. This phasic inhibition provides a narrow time window for the principle neurons to fire, thus promoting synchrony. However, in the olfactory bulb, the inhibitory granule cells produce long lasting, small amplitude, asynchronous and aperiodic inhibitory input and thus the narrow time window that is required to synchronize spiking does not exist. Instead, it has been suggested that correlated output of the granule cells could serve to synchronize uncoupled mitral cells through a mechanism called "stochastic synchronization", wherein the synchronization arises through correlation of inputs to two neural oscillators. Almost all work on synchrony due to correlations presumes that the correlation is imposed and fixed. Building on theory and experiments that we and others have developed, we show that increased synchrony in the mitral cells could produce an increase in granule cell activity for those granule cells that share a synchronous group of mitral cells. Common granule cell input increases the input correlation to the mitral cells and hence their synchrony by providing a positive feedback loop in correlation. Thus we demonstrate the emergence and temporal evolution of input correlation in recurrent networks with feedback. We explore several theoretical models of this idea, ranging from spiking models to an analytically tractable model. © 2010 Marella, Ermentrout

Lean Restaurants: Improving the Dining Experience

Myriad examples exist to describe how lean concepts are applied in the manufacturing and healthcare industries; however, research regarding how lean is applied in the food service industry is sparse. The purpose of this case study is to discover how lean applications are currently being applied in three different full-service dining establishments located in Knoxville, Tennesse

Diagnóstico y tratamiento de las complicaciones biliares de la hidatidosis

All cases of hepatic hydatidosis are related to the biliary tract and appear in two forms: a) cystobiliary communication or fisurisation and b) open, evacuatedor fistulized cyst . of biliary tract. Two surgical situations arise, according to the degree of biliary involvement: A) In the case. of communicated or fisurized cyst,it becomes necessary to evacuate the parasite and drain the cavity; B) In open, evacuated or fistulized cysts, three surgical procedures are applicable:i) Cystostomy;. which is the fundamental operation. ii) Cystostomy and drainage of biliary tract:' this is the complete surgical procedure. iii) Choledochostomy. This procedure is generally incomplete as sole conduct, but it may also be complementary to prior cystostomy. Experience is documented by the two statistics on which this paper is based. Toda hidatidosis hepática está en relación con las vías biliares adquiriendo dos formas: a) la de comunicación o fisuración quisto biliar; y b) la de quisteabierto o evacuado o fistulizado en vías biliares. Existen dos situaciones quirúrgicas según el grado de compromiso biliar. A) En el quiste comunicado o fisurado, la evacuacióndel parásito y el drenaje de la cavidad es la intervención indicada. B) En el quiste abierto o evacuado o fistulizado se pueden seguir tres planes quirúrgicos: a) La quistostomía, que es la operación funda mental. b) La quistostomía y el drenaje de las vías biliares: la intervención completa. c) La coledocostomía es casi siempre incompleta como conducta única, o es complementaria de una quistostomia prveia. El autor documenta su experiencia con dos estadisticas que fundamentan este trabajo

Las conductas quirúrgicas en la hidatidosis abierta en vías biliares

Traemos a este Congreso un resúmen de las conductas operatorias utilizadas en enfermos con quiste hidático de higado abierto en vías biliares (Q. A.V. B.). tratados en la Clínica del Prof. J. C. del Campo

Neumoperitoneo en una peritonitis apendicular

Presented at session 13th November 1963Presentado en sesión de 13 de noviembre de 196

Conductas operatorias. en el quiste hidatídico de hígado abierto en vías biliares (Q.A.V.B.): a propósito de 58 casos

1) A nview of the opera ti ve technics utilized in 58 cases of hydatid cysts opened into the biliary tract ( H.C.O.B.T.) is presented. 2) The concept of H.C.O.B.T. is defined according to pathological criteria, considering as such all those cysts that have partially evacuated their contents into the biliary tract with no obstruction of tlie common bile duct. When this obstruction is present then the H.C.O.B.T. is considered both clinically and pathological ly as a biliohepatic disease. 3) The three. differents procedures available for the treatment of the H.C.O.B.T. are discussed: a) Cyst drainage. Hepatic monopolar operation. Minimal but fundamental procedure. b) Cyst drainage plus surgical exploration -and drainage- of the comm:on hile duct. Bipolar (complete) operation. e) Exploration and drainage of the common hile duct alone .. Biliary monopolar operation. This is an incomplete operation, not to be used as a rule, except under very special circunstances.1) Este trabajo hace un análisis de las conductas operatorias utilizadas en 58 casos de quistes hidatídicos abiertos en vías biliares ( Q.A.V.B.).2) . Se define el concepto de Q.A.V.B. de acuerdo a un criterio patológico, considerando como tales, a los quistes que han evacuado parcialmente su contenido en la vía biliar sin dar obstrucción y cuando a la evacuación se agrega la obstrucción biliar. Se considera patológica- y· clínicamente el Q.A.V.B. como una ·enfermedad hepatobiliar. 3) Se analizan las indicaciones de los tres tipos de intervención aplicables al Q.A.V.B .. : a) Evacuación y drenaje del quiste. Operación unipolar hepática. Intervención mínima y fundamental. b) Evacuación y drenaje del quiste asociada aexploración y drenaje de vía biliar principal. Operación bipolar o hepatobiliar. Intervención completa. c) Exploración y drenaje de la vía biliar. Operación unipolar biliar. Intervención incompleta salvo excepciones

El muñón duodenal en las gastrectomías por úlceras del duodeno: Técnicas de cierre

Pese a la amplísima experiencia que se ha acumulado enel mundo entero sobre cirugía de la úlcera gastroduodenal,persisten aún problemas de orden técnico no definitivamenteresuelto

Combining C-H functionalisation and flow photochemical heterocyclic metamorphosis (FP-HM) for the synthesis of benzo[1,3]oxazepines

C-H Activation/functionalisation and Flow Photochemical Heterocyclic Metamorphosis (FP-HM) have been combined to synthesize a library of benzo[1,3]oxazepines, a rarely described heterocyclic family. This combined protocol allows a range of arylated products to be made from simple starting materials, and the cheap flow photochemical system has proven effective for rapid synthesis of gram-quantities of benzo[1,3]oxazepines

La oclusión post-operatoria del delgado en las colectomías por cáncer

El resultado de un tipo de cirugía se puede estudiar de dos modos: a) en el análisis estadístico de los buenos resultados y b) en el estudio de las complicaciones