Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.

Splenic marginal zone lymphoma (SMZL) is a B-cell neoplasm whose molecular pathogenesis remains fundamentally unexplained, requiring more precise diagnostic markers. Previous molecular studies have revealed 7q loss and mutations of nuclear factor κB (NF-κB), B-cell receptor (BCR) and Notch signalling genes. We performed whole-exome sequencing in a series of SMZL cases. Results confirmed that SMZL is an entity distinct from other low-grade B-cell lymphomas, and identified mutations in multiple genes involved in marginal zone development, and others involved in NF-κB, BCR, chromatin remodelling and the cytoskeleton.

Secuestro pulmonar / No disponible

El secuestro pulmonar es una malformación caracterizada por tejido pulmonar embrionario anormal que no se comunica con el árbol traqueobronquial y es irrigado por una arteria sistémica anómala. Tiene un origen congénito y se presenta en dos variedades: intralobar y extralobar. Presentamos un caso de secuestro pulmonar intralobar en base pulmonar derecha, con irrigación de una arteria sistémica proveniente de la aorta abdominal, con drenaje en venas pulmonares, sin otras malformaciones asociadas. Fue diagnosticado a raíz de un estudio de hemoptisis, mediante una TAC torácica con contraste. Se resalta la importancia de conocer los datos epidemiológicos y clínicos de esta entidad, las pruebas de imagen diagnósticas así como el tratamiento del secuestro pulmonar (AU)

Pulmonary sequestration is a malformation characterized by abnormal embryologic lung tissue that does not communicate with the tracheobronchial tree and is irrigated by an anomalous systemic artery. It is congenital and it has two varieties: intralobar and extralobar lung sequestration. We report a case of intralobar pulmonary sequestration in right lung, with irrigation systemic artery from abdominal aorta with pulmonary venous drainage, without other associated malformations. It was diagnosed as a result of a study of hemoptysis, by CT contrast We describe the importance of knowing the epidemiological and clinical data of this entity, the diagnostic imaging and treatment of pulmonary sequestration (AU)

Infarto omental posperitonitis en un paciente pediátrico. A propósito de un caso / Omental infarction post-peritonitis in children. A case report

El infarto omental (IO) es una entidad poco frecuente en la edad pediátrica. Puede ser primario o secundario a diversos factores (cirugía abdominal reciente, inflamación local, traumatismos abdominales, notable elevación de la presión abdominal, cambios bruscos de la posición corporal o neutropenia cíclica). Su curso clínico es el de un cuadro de dolor abdominal agudo con afectación preferencial del hemiabdomen derecho y síntomas digestivos (náuseas, vómitos). Las pruebas de imagen, en concreto la ecografía o la tomografía computarizada, son imprescindibles para llevar a cabo el diagnóstico de IO. En la ecografía se visualiza una masa hiperecogénica con áreas nodulares hipoecogénicas mal definidas (signo del remolino) y sin vascularización interna en el modo Doppler. Su tratamiento inicial es conservador, e incluye reposo digestivo y analgesia parenteral. Si el paciente no mejora en 48-72 horas, está indicada la cirugía, bien a cielo abierto o por laparoscopia(AU)

Omental infarction (OI) is a rare disease in children. It may be primary or secondary to various factors(abdominal surgery, local swelling, abdominal trauma, increase in abdominal pressure, sudden changes in body position or cyclic neutropenia). Its clinical course is an acute right abdominal pain and gastrointestinal symptoms (nausea, vomiting). Imaging tests, in particular ultrasound or CT, are necessary to carry out the diagnosis of OI. Ultrasound shows a hyperechoic mass with hypoechoic nodular ill-defined area (swirl sign) and no internal vascularity on Doppler. Initial treatment is conservative, including bowel rest and parenteral analgesia. If the patient does not improve within 48-72 hours, surgery is indicated, either open or laparoscopically(AU)

Aging-induced alterations in female rat colon smooth muscle: the protective effects of hormonal therapy

Aging is associated to oxidative damage and alterations in inflammatory and apoptotic pathways. Aging impairs secretion of several hormones, including melatonin and estrogens. However, the mechanisms involved in aging of smooth muscle are poorly known. We have studied the changes induced by aging in the colonic smooth muscle layer of female rats and the protective effect of hormonal therapy. We used young, aged, and ovariectomized aged female rats. Two groups of ovariectomized rats (22 months old) were treated either with melatonin or with estrogen for 10 weeks before sacrifice. Aging induced oxidative imbalance, evidenced by H2O2 accumulation, lipid peroxidation, and decreased catalase activity. The oxidative damage was enhanced by ovariectomy. In addition, aged colonic muscle showed enhanced expression of the pro-inflammatory enzyme cyclooxygenase 2. Expression of the activated forms of caspases 3 and 9 was also enhanced in aged colon. Melatonin and estrogen treatment prevented the oxidative damage and the activation of caspases. In conclusion, aging of colonic smooth muscle induces oxidative imbalance and activation of apoptotic and pro-inflammatory pathways. Hormonal therapy has beneficial effects on the oxidative and apoptotic changes associated to aging in this model (AU)

Aging-induced alterations in female rat colon smooth muscle: the protective effects of hormonal therapy.

Aging is associated to oxidative damage and alterations in inflammatory and apoptotic pathways. Aging impairs secretion of several hormones, including melatonin and estrogens. However, the mechanisms involved in aging of smooth muscle are poorly known. We have studied the changes induced by aging in the colonic smooth muscle layer of female rats and the protective effect of hormonal therapy. We used young, aged, and ovariectomized aged female rats. Two groups of ovariectomized rats (22 months old) were treated either with melatonin or with estrogen for 10 weeks before sacrifice. Aging induced oxidative imbalance, evidenced by H(2)O(2) accumulation, lipid peroxidation, and decreased catalase activity. The oxidative damage was enhanced by ovariectomy. In addition, aged colonic muscle showed enhanced expression of the pro-inflammatory enzyme cyclooxygenase 2. Expression of the activated forms of caspases 3 and 9 was also enhanced in aged colon. Melatonin and estrogen treatment prevented the oxidative damage and the activation of caspases. In conclusion, aging of colonic smooth muscle induces oxidative imbalance and activation of apoptotic and pro-inflammatory pathways. Hormonal therapy has beneficial effects on the oxidative and apoptotic changes associated to aging in this model.

Melatonin, a potential therapeutic agent for smooth muscle-related pathological conditions and aging.

Increases or decreases in the contractile response of smooth muscle underlie important pathological conditions such as hypertension, incontinence and altered gastrointestinal transit. These disorders are also frequently encountered in the aged population. Oxidative stress and inflammation are key features in the initiation, progression, and clinical manifestations of smooth muscle disorders. Melatonin, the major secretory product of the pineal gland, has free radical scavenging and antioxidative properties and protects against oxidative insult. Recently, widespread interest has grown regarding the apparent protective effects of melatonin on smooth muscle dysfunction. "In vitro" studies have shown that melatonin decreased vascular tone of vascular beds from control, hypertensive or aged animals, through the reduction of adrenergic contraction and the increase in acetylcholine-induced relaxation. "In vivo", melatonin also attenuates sympathetic tone by direct activation of melatonin receptors, scavenging free radicals or increasing NO availability in the central nervous system. In the gastrointestinal tract, melatonin treatment improves age-related impairments in gallbladder contractility and prevents deleterious effects of cholecystitis on smooth muscle and the enteric nervous system through suppression of oxidative stress. In addition, melatonin improves colonic transit time in constipation-predominant IBS patients. Melatonin is also able to restore impaired contractility of the detrusor muscle from old animals through normalization of Ca(2+) dependent and independent contraction, mitochondrial polarity, neuromuscular function and oxidative stress, which would explain the effects of melatonin counteracting cystometric changes in senescent animals. It also reverses bladder damage following ischemia/reperfusion. In conclusion, melatonin may be a promising candidate for future research of agents that modulate smooth muscle motility.

Patología gástrica adquirida en la edad pediátrica y adolescencia: valoración radiológica / Acquired gastric disorders in the pediatric age and adolescence: radiologic evaluation

El objetivo de este artículo es comprender la embriología,la patología y los hallazgos radiológicosde un amplio espectro de enfermedades adquiridasque afectan al estómago durante la edad pediátricay la adolescencia, comprender la utilidad de cadatécnica de imagen que se puede aplicar en el manejode estas entidades y mostrar posibles errores ydiagnóstico diferenciales. La patología gástrica adquiridasupone una importante causa de morbilidaden la edad pediátrica y la adolescencia, requiriendofrecuentemente varias técnicas de imagen para sudiagnóstico y tratamiento. A pesar de que las manifestacionesclínicas deben considerarse, especialmenteen la edad pediátrica, este artículo analiza eilustra un amplio espectro de enfermedades adquiridas,frecuentes y no tan frecuentes, que afectan alestómago, enfatizando en sus manifestaciones radiológicas.Los temas específicos que tratamos incluyenestenosis hipertrófica de píloro (EHP), piloroespasmo,bezoares, varices gástricas, gastritis (enfermedadde Menetrier, gastritis infecciosa, gastritiseosinófila, enfermedad granulomatosa crónica, enfermedadde Crohn y gastritis química), tumores ylesiones pesudotumorales (pólipos, pseudotumor inflamatorio,teratoma, linfoma no Hodgkin, carcinoma,tumor estromal gastrointestinal, leiomioma, leiomioblastomay leiomiosarcoma). Este artículo proporcionauna visión general de estas anomalíascongénitas así como de la utilidad de las técnicas deimagen disponibles. Ya que muchas tienen una aparienciacaracterística, este artículo ayudará al lectora comprender mejor estas anomalías

The objective of this article is to understand theembriology, pathology, and imaging features of thewide spectrum of acquirde disorders involving thestomach in infants and children, to understand theutility of each imaging modality that can be appliedto the management of these conditions and to emphasisepitfalls and differential diagnosis of these entities.Acquired disorders affecting the stomach are asignificant cause of morbidity in infants and children,frequently requiring multiple imaging modalities todiagnose and plan treatment. Although clinical featuresmight be considered when facing stomach disordersup, especially in pediatric age, this articleanalyses and ilustrates a wide spectrum of usualand unusual acquired disorders that might involvethe stomach with emphasis on the radiological manifestations.Specific topics addressed include hypertrophicpyloric stenosis, pylorospasm, bezoars, gastricvarices, gastritis (Menetrier´s disease, infectiousgastritis, eosinophilic gastritis, chronic granulomatousdisease, Crohn´s disease and chemical gastritis),neoplasms and pseudotumoral lesions (polyps,inflammatory pseudotumor, teratoma, non-Hodgkinlymphoma, carcinoma, gastrointestinal stromal tumor, leiomyoma, leiomyoblastoma and leiomyosarcoma).This article provides an overview of these acquireddisorders as well as the utility of the imagingtechniques available. Because many of these disordershave a characteristic appearance, this exhibitwill help the reader to better understand these anomalies

Imagen radiológica de las enfermedades pancreáticas en niños y adultos jóvenes. Parte II: pancreatitis y neoplasias / Imaging of pancreatic disorders in children and young patients. Part II: Pancreatitis and neoplasias

La pancreatitis aguda es una entidad clínica poco frecuente en niños, con una amplia variedad de agentes etiológicos: infecciones víricas, fármacos, malformaciones genéticas del páncreas... siendo los traumatismos la causa más frecuente. Las pancreatitis hereditarias son probablemente la causa más frecuente de pancreatitis crónica en la edad pediátrica; otras causas son la malnutrición proteica pura y la fibrosis quística. La neoplasias pancreáticas, tanto benignas como malignas son extremadamente raras en los niños. La ecografía es la modalidad de elección para la evaluación inicial de los pacientes con sospecha de enfermedad pancreática, si bien la tomografía computarizada (TC) y la resonacia magnética (RM) son útiles para el estudio de extensión de tumores y para la evaluación de pancreatitis, permitiendo la detección de anomalías pancreáticas así como colecciones líquidas extrapancreáticas. Sin embargo, son técnicas caras y no exentas de riesgo, por lo que su utilización debe sopesarse adecuadamente para evitar inconvenientes al paciente, exposición innecesaria a las radiaciones ionizantes y retrasos en el diagnóstico e instauración del tratamiento. El objetivo de este artículo es mostrar un amplio espectro de procesos patológicos infecciosos y tumorales que afectan al páncreas en niños y adultos jóvenes y evaluar la eficacia, indicaciones y aplicaciones de la ecografía convencional y Doppler color, la TC y RM en el diagnóstico y seguimiento de estas enfermedades. Discutimos las bases embriológicas y patológicas de los hallazgos radiológicos y mostramos los hallazgos característicos de cada patología en las distintas modalidades de imagen, enfatizando las dificultades diagnósticas y el diagnóstico diferencial de cada proceso (AU)

Role of mitochondria in Ca(2+) oscillations and shape of Ca(2+) signals in pancreatic acinar cells.

We studied the role of mitochondria in Ca(2+) signals in fura-2 loaded exocrine pancreatic acinar cells. Mitochondrial depolarization in response to carbonylcyanide-p-tryfluoromethoxyphenyl hydrazone or rotenone (assessed by confocal microscopy using rhodamine-123) induced a partial but statistically significant reduction in the decay of Ca(2+) signals under different experimental conditions. Spreading of Ca(2+) waves evoked by the pancreatic secretagogue cholecystokinin cholecystokinin octapeptide was accelerated by mitochondrial inhibitors, whereas the cytosolic Ca(2+) concentration ([Ca(2+)](i)) oscillations in response to physiological levels of this hormone were suppressed by rotenone and carbonylcyanide-p-tryfluoromethoxyphenyl hydrazone. Oligomycin, an inhibitor of mitochondrial ATP synthase, did no affect either propagation of calcium waves nor [Ca(2+)](i) oscillations. Individual mitochondria of rhod-2 loaded acinar cells showed heterogeneous matrix Ca(2+) concentration increases in response to oscillatory and maximal levels of cholecystokinin octapeptide. On the other hand, using Ba(2+) for unequivocal study of capacitative calcium entry we found that mitochondrial inhibitors did not affect this process. Our results show that although the role of mitochondria as a Ca(2+) clearing system in exocrine cells is quantitatively secondary, they play an essential role in the spatial propagation of Ca(2+) waves and in the development of [Ca(2+)](i) oscillations.

Differential involvement of vacuolar H(+)-ATPase in the refilling of thapsigargin- and agonist-mobilized Ca(2+) stores.

Our objective was to evaluate the role of vacuolar H(+)-ATPase and proton gradients in the refilling of Ca(2+) stores in fura-2-loaded pancreatic acinar cells. Once depleted with a high level of ACh, the Ca(2+) stores were replenished with a Ca(2+)-containing solution. The degree of refilling was estimated with a second release in response to either ACh (ACh-releasable store) or thapsigargin (thapsigargin-releasable store), a specific inhibitor of the endoplasmic reticulum Ca(2+) pumps. Both the protonophore nigericin and folimycin, a specific inhibitor of the vacuolar H(+)-ATPase, reduced reuptake into the ACh-mobilized stores but not into the thapsigargin-releasable pools. These treatments effectively dissipated the subcellular pH gradients (revealed by confocal observation of the distribution of a marker for acidic compartments), and did not impair the [Ca(2+)](i) response to ACh in control cells. Our results indicate that thapsigargin and ACh release heterogeneous Ca(2+) stores which are differently operated by vacuolar proton ATPase.