Gene expression profiling reveals upregulated FUT1 and MYBPC1 in children with pancreaticobiliary maljunction

Pancreaticobiliary maljunction (PBM) is associated with high risk of epithelial atypical growth and malignant transformation of the bile duct or gallbladder. However, overall changes in genetic expression have not been examined in children with PBM. Genome-wide expression was analyzed using peripheral blood samples from 10 children with PBM and 15 pediatric controls. Differentially expressed genes (DEGs) were identified using microarray. Bioinformatics analysis was conducted using Gene Ontology and KEGG analyses. The top 5 in the up-regulated genes in PBM were verified with qRT-PCR. Receiver operator characteristic curve analysis was conducted to evaluate the predictive accuracy of selected genes for PBM. The microarray experiments identified a total of 876 DEGs in PBM, among which 530 were up-regulated and the remaining 346 were down-regulated. Verification of the top 5 up-regulated genes (TYMS, MYBPC1, FUT1, XAGE2, and GREB1L) by qRT-PCR confirmed the up-regulation of MYBPC1 and FUT1. Receiver operating characteristic curve analysis suggested that FUT1 and MYBPC1 up-regulation could be used to predict PBM, with the area under the curve of 0.873 (95%CI=0.735−1.000) and 0.960 (95%CI=0.891−1.000), respectively. FUT1 and MYBPC1 were up-regulated in children with PBM, and could be used as potential biomarkers for PBM.

La coronarioectasia difiere en los factores de riesgo clásicos de enfermedad coronaria / Compared to usual coronary artery disease risk factors are different in those with coronary ectasia

Introducción: La coronarioectasia (CE), es una infrecuente forma de enfermedad coronaria, en que dilataciones coronarias coexisten con placas ateroes-cleróticas. Puede presentarse como cuadros agudos o crónicos, aún sin estenosis significativa. Distintas series lo han asociado a perfiles variados de factores de riesgo cardiovascular. Métodos: Se efectuó un estudio analítico de cohorte retrospectivo, evaluando las coronariografías realizadas en nuestro centro entre Junio de 2009 a Julio de 2015. Se definió CE como dilatación >1,5 veces comparado con el diámetro de la arteria de referencia. Se estudiaron factores de riesgo cardiovascular clásicos y se compararon con un grupo control elegido de forma aleatoria. Resultados: De 9648 coronariografías, 64 presentaban CE. La mayor parte eran hombres, de menor edad, con menos hipertensión arterial, diabetes e hiperlipidemia, comparados con los controles. En la mayoría de los casos la CE afectaba a 3 vasos (83,3%) y en solo 5 casos (28%) coexistía con estenosis. El análisis multivariado señaló como factores de riesgo significativos a la edad < 55 años (OR: 2,63, IC: 1,4 -4,9, p<0,05), Obesidad (OR: 3,2; IC:1,7-5,8, p<0,05) e Hiperlipidemia (OR: 0,09; IC: 0,016-0,54). Considerando los pacientes que se presentaron como SCA se observó que los pacientes con CE fueron más jóvenes (45,9 años; DE: 5,9 v/s 48,8 años; DE: 5,3; p=0,02), y con menos hiperlipidemia (OR:0,2; IC:0,06-0,7, p=0,01). Respecto a la obesidad, esta fue más preva-lente en pacientes con CE (OR: 2,49; IC: 0,956-6,4. p=ns). Conclusión: La CE es una entidad poco frecuente, que puede producir SCA aun en ausencia de estenosis significativa. Son pacientes más jóvenes y con menos antecedente de dislipidemia, por lo que en su patogenia aparentemente participan factores diferentes a los de la enfermedad ateroesclerótica obstructiva.

Background: Coronary ectasia (CE) is an uncommon condition where coronary artery dilatation coexists with atherosclerotic plaques. It may present as either acute or chronic syndromes even in the absence of coronary artery stenosis. Differences in risk factors associated to CE compared to those associated to usual CAD have been described. Methods: We retrospectively analyzed coronary arteriograms performed between June 2009 and July 2015. CE was defined as the presence of dilatation >1.5 times the diameter of the unaffected vessel. Cardiovascular risk factors were compared in CE vs a random sample of non-CE patients. Results: Out of 9648 coronary arteriograms 64 showed CE (9.5%). Compared to controls, CE patients were males, younger and hat lower prevalence or hypertension, diabetes and hyperlipidemia. CE was present in all 3 main vessels in 83.3% of CE patients and co-existed with significant stenosis in only 28%. Multivariate analysis showed that significant differences in risk factors were age <55 years (OR: 2.63; CI: 1.4 to 4.9, p <0.05), obesity (OR: 3 2; CI: 1.7 to 5.8, p <0.05) and hyperlipidemia (OR: 0.09; CI: 0.016 to 0.54). In patients presenting with an acute coronary syndrome, those with CE were younger (45,9 years; SD: 5,9 v/s 48,8 years; SD: 5,3; p=0,02), y and a lower prevalence or hyperlipidemia (OR:0,2; IC:0,06-0,7, p=0,01). Conclusion: CE is an infrequent condition in CAD. It may me associated to either acute or chronic syndromes. They are younger, have a lower prevalence of dyslipidemia suggesting that risk factors other than traditionally recognized in obstructive CAD influence de development of CE.

Pulsatile Tinnitus Caused by a Dilated Mastoid Emissary Vein

Although pulsatile tinnitus can be audible, objective demonstration of this heartbeat-synchronous sound has rarely been successful. We report a rare case of pulsatile tinnitus in a 44-yr-old female patient, which was induced by a large mastoid emissary vein (MEV) and objectively documented by Doppler sonography of the left posterior auricular region. The tinnitus was intermittent and the patient could adapt to the tinnitus without intervention on the mastoid emissary vein. These findings suggest that a single large MEV can cause pulsatile tinnitus in the absence of other vascular abnormalities, and imaging studies of the posterior fossa and Doppler ultrasonography can aid the diagnosis in such cases.

Cavernoma de la vena porta. Descripción de casos clínicos pediátricos / Portal vein cavernoma, a description of pediatric clinical cases

La cavernomatosis portal es una patología poco frecuente causada por la trombosis de la vena porta. Es la principal causa de hipertensión portal en niños. La causa muchas veces no se identifica, pudiendo reconocerse factores predisponentes, entre los cuales los más frecuentes son el cateterismo de la vena umbilical y la onfalitis. Se manifiesta a través de sus complicaciones: hemorragia digestiva alta por várices esofágicas y esplenomegalia. El diagnóstico se confirma con ecografía abdominalcon Doppler. La terapéutica incluye el tratamiento médico-endoscópico de las várices esofágicas. La derivación quirúrgica porto-sistémica resuelve la obstrucción portal. Se realizó un estudio retrospectivo con el objetivo de describir las características clínicas de pacientes con cavernomatosis portal en el período enero de 1999 a abril de 2009 en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell (HP-CHPR). Se identificaron ocho pacientes, con una media de edad al momento del diagnóstico de 2 años y 2 meses. La forma de presentación más frecuente fue la hematemesis. En la mayoría se constató esplenomegalia. En tres se identificaron factores predisponentes: cateterismo umbilical, cirugía abdominal. Todos tenían várices esofágicas al diagnóstico. Tres pacientes reiteraron hemorragia digestiva alta, uno en tres y otro en cuatro oportunidades. Cuatro pacientes requirieron escleroterapia o banding por sus várices esofágicas. Un paciente recibió cirugía derivativa. Esta patología no tuvo, en este período de tiempo, una alta prevalencia, pero alta morbilidad. Todos eran pequeños, la mayoría sin factores de riesgo y se presentaron a través de complicaciones de la enfermedad. La mayoría reiteró complicaciones en la evolución.

Laringocele: uma causa de obstrução de vias aéreas superiores / Laryngocele: a cause of upper airway obstruction

Laringoceles são dilatações anormais do sáculo do ventrículo de Morgani da laringe, localizando-se entre a falsa prega vocal e a face interna da cartilagem tireóide. Relevância clínica é rara, sendo o achado de laringoceles assintomáticas em necropsia muito alto. Algumas vezes, pode se apresentar já como uma grande massa cervical, levando à obstrução de vias aéreas e necessitando de intervenção de urgência. Neste trabalho, os autores relatam um caso de laringocele levando à obstrução de vias aéreas superiores, necessitando de traqueostomia de urgência e fazem uma revisão da literatura sobre o tema. Complicações de laringocele incluem infecção (formação de piocele), aspiração de patógenos e subseqüente bronquite e pneumonia, infecção do espaço lateral da faringe (depois de ruptura) e obstrução de vias aéreas superiores, como no caso apresentado. A laringocele, apesar de ser uma doença benigna, é uma causa potencial de obstrução respiratória que pode ameaçar a vida do paciente. O correto diagnóstico e manejo adequado precoce podem evitar que situações de emergência, como a do paciente do caso relatado, levem à morte.

Laryngoceles are abnormal dilatations of the laryngeal saccule, which rises between the ventricular folds, the base of the epiglottis and the inner surface of the thyroid cartilage. Clinical symptoms are rare, and the find of asymptomatic laryngoceles in pathology studies are frequent. Sometimes it is presented as cervical swelling causing airway obstruction in need of emergency intervention. In this study, we report a case of upper airway obstruction due to laryngocele treated by emergency tracheotomy and we review of the literature. Laryngocele complications include infection (pyocele formation), pathogens aspirations with subsequent bronchitis and pneumonia and upper airway obstruction, as in the case reported. Despite being benign tumors, laryngoceles cause relevant airway obstruction. Correct diagnosis and proper treatment can preclude emergencies as it happened to our patient hereby reported.

Isolated pathetick nerve paresis by compression from a dolichoectatic basilar artery: case report

The article describes a woman with 53 year-old that has presented diplopia when looking down and adopted a tilted head position in order to read for the last six months. The neuro-ophthalmic examination shows isolated right superior oblique muscle paresis. The magnetic resonance and the angioresonance show the dolicoectatic basilar artery compressing the right ventral lateral brainstem.

O artigo descreve uma mulher de 53 anos que há seis meses apresenta diplopia ao olhar para baixo, além de adotar postura inclinada da cabeça para ler. O exame neuro-oftalmológico revelou paresia isolada do músculo oblíquo superior direito. Os exames de ressonância magnética e angioressonância evidenciaram dolicoectasia da artéria basilar, que comprimia a face ventral lateral direita do tronco cerebral.

Compressão extrínseca da artéria coronária esquerda por dilatação aneurismática do tronco pulmonar em adolescente: involução após oclusão cirúrgica de comunicação interatrial seio venoso e plastia redutora do tronco pulmonar / Extrinsic compression of left main coronary artery from aneurysmal dilation of pulmonary trunk in a adolescent: involution after surgery occlusion of sinus venosus atrial septal defect and pulmonary trunk plasty for reduction

Relatamos o caso de um adolescente encaminhado com o diagnóstico de hipertensão pulmonar. A investigação não invasiva detectou comunicação interatrial seio venoso com sinais de hipertensão pulmonar. No estudo hemodinâmico o diagnóstico foi confirmado, sendo também notada compressão esquerda pelo tronco pulmonar. O paciente foi submetido à oclusão cirúrgica da comunicação interatrial e à plastia redutora do tronco pulmonar. Dois anos após o procedimento, o paciente encontra-se bem, com sinais clínicos e ecocardiográficos de hipertensão pulmonar discreta e sem evidências, também pelo ecocardiograma, de obstrução do tronco da artéria coronária esquerda.

We report the case of an adolescent referred with initial diagnosis of pulmonary hypertension. Non-invasive investigation disclosed a sinus venous atrial septal defect with pulmonary hypertension. The hemodynamic study confirmed diagnosis, and also showed extrinsic compression of left main coronary artery by pulmonary trunk. Surgical closure of the defect in addition to pulmonary trunk plasty were undertaken. Two years after the surgery the patient is well, with clinical signs of mild pulmonary hypertension, and showing no evidence - also on echocardiogram - of left coronary artery trunk obstruction.

Combined presence of coronary artery ectasia and descending aortic dissection in polycystic kidney disease presenting as acute coronary syndrome.

We report the unusual case of a 55-year-old man with a history of hypertension and dyslipidemia who presented with acute coronary syndrome. Examination revealed that he had coronary artery ectasia and descending aortic dissection along with polycystic kidney disease.

Síndrome de Ogilvie: a propósito de un caso / Ogilvie's syndrome: a case report

Se analiza una paciente que presenta Síndrome de Ogilvie (Pseudoobstrucción Colónica), después del drenaje percutáneo de un Pseudoquiste Pancreático. Se mencionan diferentes cuadros clínicos que se han complicado con este síndrome, como también las manifestaciones clínicas, los métodos de diagnóstico y las posibilidades terapéuticas. En la literatura consultada no ha sido encontrado el drenaje de un Pseudoquiste como etiología del Síndrome de Ogilvie.

Cystic dilatation of the common bile duct in adults: report of five cases and review of literature

The authors report five cases of cystic dilatation of the common bile duct Type I (TodaniÆs classification) in adults patients, in Division of General Surgery of a University Hospital, treated over a- 25-year- period from 1974 to 1999, among 16.057 operations, and not previously published. Diagnosis was obtained by operative cholangiogram (OC) in the first case, percutaneous transhepatic cholangiogram on the second one (PTHC) and by ultrasonography (US), endoscopic retrograde cholangiopancreatography (ERCP), and operative cholangiogram (OC), respectively, on the last three cases. The second patient had an adenocarcinoma arising in the cystic wall associated with peritoneal metastasis. The first two cases were treated by internal drainage and the last three by excision of the cysts and bilioenteric anastomoses. Classification, incidence, etiology, diagnosis, malignization and surgical treatment of biliary cystic disease (BCD) were revised, with the conclusion that resection must be the preferable method of treatment, when possible, especially due to the concern of malignization.

Right ventricular cardiomyopathy. A rare and underdiagnosed cause of sudden death in young adults

We present an example of right ventricular cardiomyopathy, a very uncommon condition which caused sudden death in an adolescent boy. This case report is used to highlight the pathological features of this rare and poorly understood condition, which is often undiagnosed.

Ectasia da artéria basilar e acidente vascular cerebral: aspectos clínicos de 21 casos / Basilar ectasia and stroke: clinical aspects of 21 cases

A ectasia da artéria basilar (EB) é a dilataçäo do calibre em toda ou parte de sua extenspo, e/ou quando for anormalmente tortuosa em seu trajeto. As manifestaçöes clínicas säo decorrentes de compressäo de nervos cranianos, fenômeno isquêmico ou hemorrágico, síndrome de pseudo-tumor ou hidrocefalia. Procuramos descrever casos da associaçäo de EB e acidente vascular cerebral (AVC), analisar sua frequência, aspectos clínicos e os mecanismos envolvidos nas diferentes formas de apresentaçäo clínica desta entidade. Encontramos 21 pacientes com AVC e EB. A associaçäo de EB e AVC foi prevalente em indivíduos do sexo masculino após 50 anos. Os principais sintomas observados foram hemiparesia, alteraçäo de nervos cranianos e ataxia cerebelar. Na instalaçäo do AVC foram importantes as tonturas rotatórias e a cefaléia. Os infartos relacionados à EB puderam ser atribuídos a diferentes mecanismos: trombose da artéria, embolia artério-arterial, efeito de massa com angulaçäo e obstruçäo de ramos das artérias vertebrais e basilar.

Ectasia da artéria basilar e acidente vascular cerebral: estudo por imagem em 21 casos / Basilar ectasia and stroke: imaging aspects in 21 cases

A ectasia da artéria basilar (EB) pode estar envolvida em diferentes formas de manifestaçöes clínicas, sendo fundamental para seu diagnóstico a análise por métodos de imagem. Procuramos analisar os aspectos de diagnóstico de imagem em 21 pacientes com acidente vascular cerebral e ectasia da artéria basilar. Em todos os pacientes o diagnóstico da EB pôde ser feito pela tomografia computadorizada de crônio. Contudo a ressonância magnética de crânio mostrou-se o exame de diagnóstico por imagem mais completo para a avaliaçäo das relaçöes entre a EB e as estruturas adjacentes.

Ectasis de las arterias intracraneales / Ectasia of intracraneal arteries

Se presentan 10 pacientes con ectasias sintomáticas de arterias cerebrales. Todos los pacientes son de sexo masculino y padecían de hipertensión arterial leve o moderada. Las ectasias estaban presentes en la arteria basilar en el 20%, en las arterias carótidas en el 20% y en ambos sistemas en el 60% restante. Predominaron los síntomas motores y sensitivos, ataxia, diplopía y demencia. Asismismo se presenta el segundo caso en la literatura con hemorragia subaracnoidea a partir de la ruptura de una arteria basilar ectásia. Se discute la presencia de trastornos autonómicos en un paciente con severo compromiso neurológico por compresión del tronco encefálico. Todos los pacientes fueron estudiados con tomografía computada cerebral con infusión de sustancia de constraste y arteriografía cerebral de los cuatro vasos. En uno de los casos la tomografía cerebral resultó insuficiente para el diagmnóstico de ectasia, sugiriendo un tumor del ángulo pontocerebeloso. Cinco pacientes fueron tratados con antiagregantes plaquetarios y dos pacientes recibieron anticoagulación. La evolución clínica fue desfavorable, no observándose benefício aparente en los casos tratados