RESUMO
BACKGROUND: Pediatric growth tracking has been identified as a top priority by international health agencies to assess the severity of malnutrition and stunting. However, remote low-resource settings often lack the necessary infrastructure for longitudinal analysis of growth for the purposes of early identification and immediate intervention of stunting. METHODS: To address this gap, we developed a portable field unit (PFU) capable of identifying a child over the course of multiple visits, each time adding new anthropomorphic measurements. We conducted a preliminary field evaluation of the PFU by using the unit on two distinct visits to three schools in the area surrounding a medical clinic in rural San Jose, Honduras. The unit was used to assess children at each school as part of the community outreach. RESULTS: Community outreaches to three schools were conducted by two distinct teams, where they used the device to assess 210 children. Of the 180 children registered during the first visit, 112 were re-identified and assessed on the subsequent visit. Twenty-four instances of moderate-to-severe malnutrition were identified and referred for further evaluation to the central clinic. CONCLUSION: This initial assessment suggests that the PFU could be an effective means of identifying at-risk children.
CONTEXTE: Les organismes internationaux de santé ont identifié le suivi de la croissance des enfants comme une priorité absolue pour évaluer la gravité de la malnutrition et les retards de croissance. Cependant, les zones reculées à faibles ressources n'ont souvent pas les infrastructures nécessaires à l'analyse longitudinale de la croissance à des fins d'identification précoce et d'intervention immédiate de lutte contre les retards de croissance. MÉTHODES: Pour combler ces lacunes, nous avons développé un appareil portatif de terrain (PFU) capable d'identifier un même enfant lors de plusieurs visites et d'ajouter les nouvelles mesures anthropomorphiques de chaque visite. Nous avons réalisé une évaluation de terrain préliminaire du PFU en utilisant l'appareil lors de deux visites différentes dans trois écoles de la zone rurale aux alentours d'une clinique médicale de San Jose, Honduras. L'appareil a été utilisé pour évaluer les enfants de chaque école dans le cadre d'un programme de sensibilisation communautaire. RÉSULTATS: Des programmes de sensibilisation communautaire ont été menés dans trois écoles par deux équipes différentes, qui ont utilisé l'appareil pour évaluer 210 enfants. Sur les 180 enfants enregistrés lors de la première visite, 112 ont été de nouveau identifiés et évalués lors de la visite suivante. Vingt-quatre cas de malnutrition modérée à sévère ont été identifiés et adressés pour examen complémentaire à la clinique centrale. CONCLUSION: Cette évaluation initiale suggère que le PFU pourrait être un moyen efficace d'identification des enfants à risque.
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La diabetes MODY 2 es un tipo de diabetes monogénica producida por una mutación en la enzima glucoquinasa, generando un fenotipo hiperglicémico. Para posibles fines terapéuticos o de diagnóstico, se debe conocer esta proteína, una enzima monomérica de la familia de las hexoquinasas, encargadas de convertir glucosa en glucosa-6-fosfato, el primer paso de la glicolisis. La glucoquinasa se caracteriza por sus propiedades cinéticas únicas: tiene una afinidad mucho menor por el sustrato que las demás hexoquinasas y no es inhibida por su producto. Se encuentra principalmente en páncreas e hígado (ßGK y LGK, respectivamente), donde como sensor regula los distintos estados metabólicos de estos tejidos, y controla la glicemia a nivel sistémico. Las formas ßGK y LGK se diferencian a nivel transcripcional, pues el gen posee dos promotores distintos, específicos para cada tejido. A nivel hormonal, la actividad de esta enzima es regulada selectivamente de manera tejido-específica por glucosa, insulina y otras proteínas reguladoras. La isoforma hepática puede ser secuestrada hacia el núcleo por la proteína reguladora de glucoquinasa (GKRP, por su sigla en inglés). La principal característica de la enzima glucoquinasa es su inusual regulación alostérica, propiedad que le permite adoptar dos conformaciones principales, una cerrada (activa) y otra súper-abierta (inactiva). Se han desarrollado distintas drogas activadoras de glucoquinasa, las cuales se unen al sitio alostérico de la enzima y estabilizan a la proteína en su estado cerrado. En esta revisión se describen las características estructurales y propiedades regulatorias que posee la enzima glucoquinasa, relacionándolas con su rol en el desarrollo de la diabetes MODY 2. También se profundiza en las implicancias moleculares de algunas mutaciones descritas que originan MODY 2, y se abordan los efectos de moléculas activadoras de glucoquinasa.
Diabetes MODY 2 or GCK-MODY is a type of monogenic diabetes produced by a mutation in the glucokinase enzyme, generating a hyperglycemic phenotype. This protein, a monomeric enzyme of the hexokinase family, is responsible for converting glucose into glucose-6-phosphate, the first step of glycolysis. Glucokinase is characterized by its unique kinetic properties: it has a much lower affinity for its substrate than other hexokinases and is not inhibited by its product. It is found mainly in pancreas (ßGK) and liver (LGK), where it acts as a sensor regulating the different metabolic states of these tissues, and ultimately, controlling systemic glycemia. The two forms ßGK and LGK differ at a transcriptional level, because the gene presents two different tissue-specific promoters. The activity of glucokinase in liver and pancreas is regulated by glucose, insulin and other regulatory proteins. The liver isoform can be sequestered to the nucleus by the glucokinase regulatory protein (GKRP). The main characteristic of the enzyme is its unusual allosteric regulation, a property that allows the protein to adopt a closed (active) conformation, and a super-open (inactive) conformation. Different glucokinase activating drugs have been developed, which bind to the allosteric site of the enzyme and stabilize glucokinase in its closed state. This review describes the structural and regulatory properties of the glucokinase enzyme, and its role in the development of MODY 2 diabetes. The molecular implications of some mutations that originate MODY 2 are also described, and the effects of glucokinase activating molecules are addressed.
Assuntos
Humanos , Diabetes Mellitus Tipo 2/genética , Glucoquinase/genética , Hiperglicemia/genética , MutaçãoRESUMO
RESUMEN La orquídea Cattleya trianae Linden & Rchb.f. es reconocida como flor nacional de Colombia y se encuentra en peligro crítico, al presentar una reducción estimada mayor al 80% en los últimos 100 años, debido a la disminución en la calidad del hábitat y niveles altos de explotación o recolección. La familia Orchidaceae es una de las que mayor número de especies posee en el reino Plantae, con aproximadamente 900 géneros, de los cuales, el 38% es endémico de Colombia, concentrado en la región Andina, con 87,2%. Esta investigación buscó profundizar en el tema de la propagación como mecanismo de conservación, para lo cual, se determinó el efecto de la 6-Bencilaminopurina (6-BAP), sobre el desarrollo in vitro, en Fusagasugá (Cundinamarca), en un diseño de bloques completamente al azar, con 3 repeticiones. Cuerpos protocórmicos provenientes de semillas recolectadas en Pacho (Cundinamarca) fueron sembrados en medio básico Murashige & Skoog, enriquecido con 4 concentraciones de 6-BAP. Los resultados mostraron respuestas diferenciales a la adición de la citoquinina, ya que, con la concentración más alta, se obtuvo el mayor porcentaje de callos, con la de 0,05mg.L-1, el mayor porcentaje de brotes y sin la aplicación del regulador de crecimiento, el mayor porcentaje de raíz.
ABSTRACT The orchid Cattleya trianae Linden & Rchb.f. is recognized as the national flower of Colombia, the species is in a critical danger, presenting an estimated reduction of more than 80% in the last 100 years due to the decrease in habitat quality and high levels of exploitation or harvesting. The Orchidaceae family is one of the largest number of species in the Plant Kingdom, with approximately 900 genera, of which 38% are endemic in Colombia, concentrated in the Andean region with 87.2%. This research sought to deepen in the topic of the propagation as mechanism of protection for their conservation, for which the effect of cytokinin 6-benzylaminopurine (6-BAP) on development was determined in vitro in Fusagasugá (Cundinamarca), in a completely randomized block design with 3 replicates. The protocorm-like bodies from seeds collected in Pacho (Cundinamarca) were sown in a basic medium Murashige and Skoog enriched with 4 concentrations of 6-BAP. The results showed differential responses to the addition of cytokinin, as the highest concentration was obtained the highest percentage of callus, with the 0.05mg. L-1, the highest percentage of shoots and without the application of the growth regulator, the highest root percentage.
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Leishmaniasis is a zoonotic disease caused by intracellular protozoa of the Leishmania genus that are spread and transmitted by sandflies. Natural infection and clinical disease in domestic cats and dogs appear to be rare or perhaps largely under-reported in endemic areas. However, previous reports on infected domestic animals usually implicate the same Leishmania species that affect humans in tropical and subtropical areas of the world suggesting a potential role for zoonotic transmission. In the present study we assessed a representative sample of cats and dogs from endemic urban / suburban areas of Lara state in central western Venezuela. In both dogs and cats, cutaneous disease exhibits a spectrum of manifestations that range from single papules or nodules, which may evolve into ulcerative, plaque-like or scaly lesions. Cytochrome b (cyt b) PCR gene sequence analysis revealed L. mexicana as the causative agent in all cases, including two human cases proceeding from the same study area at the same time the study was carried out. In order to improve our understanding on feline/canine infection with Leishmania mexicana, and address potential zoonotic concerns it is necessary to characterize its enzootic reservoirs and vectors as well as the possible anthropophilic players linking to the peridomestic and domestic cycles.
Assuntos
Doenças do Gato/epidemiologia , Doenças do Gato/parasitologia , Doenças do Cão/epidemiologia , Doenças do Cão/parasitologia , Leishmaniose Cutânea/epidemiologia , Leishmaniose Cutânea/parasitologia , Animais , Animais Domésticos , Gatos , Cães , Humanos , Reação em Cadeia da Polimerase/veterinária , Psychodidae/parasitologia , Venezuela/epidemiologia , Zoonoses/epidemiologia , Zoonoses/parasitologiaRESUMO
Familial Mediterranean Fever is a hereditary inflammatory disease of predominantly autosomal recessive inheritance, produced by mutations in the MEFV gene that is found on the short arm of chromosome 16, characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis or erysipelaslike erythema. An episode lasts from one to three days, and its frequency is very variable. This disease is more frequent among Mediterranean populations, Jews from North Africa (not Ashkenazi), Armenians, Turks and Arabs. However, in recent years more cases have been reported in countries not related to this area. There are no formal studies of epidemiology in Chile. We present the case of one patient of Egyptian/ Jewish ancestry, and the case of a family of German/Spanish ancestry, all Chileans with semiology and characteristic evolution of familial Mediterranean fever and heterozygous positive molecular study. The absence of diagnosis in non-Mediterranean countries may be due to the lack of awareness of this disease. In Chile there has been a rise in cases given by migrants and their offspring, so it is very important to keep in mind as possible diagnosis in case of pain and fever of unknown origin. On the other hand, the familial Mediterranean fever is mainly of autosomal recessive inheritance, but dominant variants have been described. Both cases described in this work present the variant in which the disease manifests itself in its heterozygous form, generating an autosomal dominant inheritance, which would increase the number of affected individuals in the population.
La fiebre mediterránea familiar es un trastorno auto inflamatorio hereditario de herencia predominantemente autosómica recesiva, producida por mutaciones en el gen MEFV que se encuentra en el brazo corto del cromosoma 16, y que se caracteriza por episodios recurrentes de fiebre acompañada de peritonitis, pleuritis, artritis o eritema tipo erisipela. Un episodio dura entre uno y tres días, y su frecuencia es muy variable. Esta enfermedad es más frecuente entre las poblaciones mediterráneas, judíos del norte de África (no ashkenazíes), armenios, turcos y árabes. Sin embargo, en los últimos años se han reportado más casos en países no relacionados con esta área. No hay estudios epidemiológicos formales en Chile. Presentamos el caso de una paciente de ascendencia egipcia/judía, y el caso de una familia de ascendencia alemana/española, todos chilenos con semiología y evolución característica de fiebre mediterránea familiar y estudio molecular positivo heterocigoto. La falta de diagnóstico en países no mediterráneos puede deberse a la falta de conocimiento de esta enfermedad. En Chile han aumentado los casos dado el aumento de migrantes y sus descendientes, por lo que es importante tener este diagnóstico como posibilidad en caso de dolor y fiebre de origen desconocido. Por otro lado, la fiebre mediterránea familiar es principalmente de herencia autosómica recesiva, pero se han descrito variantes dominantes. Los dos casos descritos en este trabajo presentan la variante en la que la enfermedad se manifiesta en su forma heterocigota, generando una herencia autosómica dominante, lo que aumentaría el número de individuos afectados en la población.
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Pessoa de Meia-Idade , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/tratamento farmacológico , Migrantes , Colchicina/uso terapêutico , Predisposição Genética para Doença , Pirina/genética , HeterozigotoRESUMO
The majority of clinical geneticists in Chile work in the Metropolitan Region (78%). To expand the area of Telemedicine and support the management of the Ministry of Health, we present this Telegenetics development project that includes innovation of assistance and educational nature directed to regions. The implementation of the National Registry of Congenital Anomalies in Chile (RENACH) in the public and private systems, in December 2015, and the obligation to record and describe the anomalies in all newborns, constitutes a favorable scenario that would benefit from the support of clinical geneticists. This proposal brings together a team of 18 specialists and 6 fellows, professionals from different Universities and / or Hospitals of Health Services, in a collaborative project in the area of clinical genetics, which, supported by the HCUCH + CIMT Telemedicine project, will contribute to two regions of Chile better tools for the diagnosis and comprehensive management of newborn patients with congenital anomalies. It can serve as a pilot for a new way to support the registration of malformations throughout Chile and teach clinical genetics concepts. The expected benefits are to improve the quality of care and health management in patients with little-known diseases. (AU)
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Humanos , Masculino , Feminino , Recém-Nascido , Anormalidades Congênitas/diagnóstico , Recém-Nascido , Telemedicina/organização & administração , Anormalidades Congênitas/classificação , Chile , Telemedicina/tendênciasRESUMO
Resumen Estudio que aplicó la escala STIPO (Structured Interview of Personality Organization - Entrevista Estructurada de Organización de Personalidad) en su Dimensión Identidad a 61 pacientes con y sin diagnóstico previo de Trastorno de Personalidad según DSM-IV, para evaluar el estado de la Identidad del Yo. Esta investigación se basó en el Modelo de Otto Kernberg y colaboradores, quienes consideran que la Identidad del Yo es el criterio central a la hora de evaluar la Organización de la Personalidad. Este trabajo expondrá los principales fundamentos teóricos y clínicos en referencia a la Identidad del Yo de este autor. En esta muestra, encontramos un alto grado de concordancia entre el diagnóstico de Trastorno de Personalidad según DSM y la presencia de Difusión de Identidad a través de la STIPO Dimensión Identidad y, por otra parte, Identidad Integrada en pacientes que no presentaron Trastorno de Personalidad según DSM.
Scale study that applied STIPO (Structured Interview of Personality Organization - Structured Interview of Personality Organization) in Identity Dimension, 61 patients with and without a diagnosis of personality disorder according to DSM-IV, with the assess Identity versus identity diffusion Integrated. This research was based on the model of Otto Kernberg, where it is considered that the Identity is the central criterion in assessing the Personality Organization. This paper will expose the main theoretical and clinical foundations in reference to the Identity of the Self of this author. According to the results obtained in the sample, there is a high degree of concordance between the diagnosis of Personality Disorder according to DSM-IV diagnosis of Identity Diffusion through STIPO Identity Dimension.
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Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Personalidade , Transtornos da Personalidade , Saúde Mental , Difusão , Estudos Transversais , Estudo ClínicoRESUMO
PURPOSE: Midline incisional hernia reconstruction by defect closure and reinforcement with either prosthetic or biologic materials has shown to significantly decrease recurrence rates even for complex cases. The purpose of this study is to evaluate outcomes regarding large incisional hernia reconstruction with components separation technique using rectus muscle plication as a reinforcement method. METHODS: Thirteen patients having large midline incisional hernias and either history of abdominal wall contamination or recurrence in the presence of mesh were treated between January 2007 and December 2011 with closure using components separation technique reinforced by rectus muscle plication. RESULTS: Average hernia square was 222 cm(2), and mean follow-up was 24 months. Complications occurred in 6 patients with a mean time to resolution of 59 days. One recurrence was present. CONCLUSIONS: When use of mesh or biologic materials is not desired, rectus muscle plication is a feasible tool as a reinforcement method after large hernia closure with components separation.
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Abdominoplastia/métodos , Hérnia Ventral/cirurgia , Herniorrafia/métodos , Reto do Abdome/cirurgia , Infecção da Ferida Cirúrgica/etiologia , Parede Abdominal/microbiologia , Técnicas de Fechamento de Ferimentos Abdominais/efeitos adversos , Abdominoplastia/efeitos adversos , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Hérnia Ventral/microbiologia , Hérnia Ventral/patologia , Herniorrafia/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Seroma/etiologia , Telas Cirúrgicas , Deiscência da Ferida Operatória/etiologia , Adulto JovemRESUMO
Desde 1987 se describieron diferentes formas clínicas de enfermedad periodontal y gingivitis en pacientes VIH/SIDA. OBJETIVO: Determinar la presencia de enfermedad periodontal en mujeres VIH/SIDA que acudieron al Centro de Atención a Pacientes con Enfermedades Infectocontagiosas (CAPEI/UCV) durante el periodo 2008-2010. MATERIALES Y METODOS: Estudio prospectivo y transversal de 55 mujeres VIH/SIDA, entre 17-57 años de edad, todas bajo terapia antirretroviral, previo consentimiento informado, se evaluaron clínicamente. Se establecieron rangos inmunológicos de acuerdo al valor en sangre de CD4 por mm 3: sin inmunodeficiencia 500 cel/mm3, moderada: 200-499 cel/mm 3 severa:< 200 cel/mm 3. A cada paciente se le aplicó el índice periodontal de Russell (IP-R). Se consideraron los valores 1 y 2 como gingivitis, y 6-8 como periodontitis. RESULTADOS: De acuerdo al status inmunológico 10 (1,8%) sin inmunosupresión, 15 (27,8%) inmunosupresión moderada y 30 (54,4 %) con inmunosupresión severa. El valor 6 del IP-R se observó en 25 mujeres (43,6 %), seguido del valor 8 en 19 mujeres (34,5 %), y 11 ( 20 %) valor 2. Se apreció una media de 4,36 para las mujeres sin inmunosupresión; inmunosupresión moderada un discreto aumento a 4,71; inmunosupresión severa, se observó la máxima expresión numérica de 5,47. El análisis de varianza demostró una dependencia o asociación estadísticamente significativa (p < 0,05). CONCLUSIÓN: Se observó una fuerte asociación entre el deterioro del sistema inmune y el estado periodontal de las mujeres estudiadas
Since 1987 were described different clinical forms of periodontal disease and gingivitis in HIV/AIDS patients. OBJECTIVE: To determine the presence of periodontal disease in HIV/AIDS women who attended Centro de Atención a Pacientes con Enfermedades Infectocontagiosas de la Universidad Central de Venezuela (CAPEI/UCV) during the period 2008-2010. MATERIALS AND METHODS: Prospective cross-sectional study of 55 women HIV/AIDS among 17-57 years of age, all under prior informed consent, antiretroviral therapy were evaluated clinically. Settled immunological ranges according to the value in of CD4 blood by 3 mm: without immunodeficiency 500 cel/mm3, mild: 200-499 cel/mm 3 severe: 200 cel/mm 3. Periodontal index of Russell (IP-R) was applied to each patient. We considered the values 1 and 2 as gingivitis and periodontitis 6-8. RESULTS: According to the status immune 10 (1.8%) without immunosuppression, 15 (27.8%) immunosuppression moderate and 30 (54.4%) with severe immunosuppression. The 6 IP-r value was observed in 25 women (43.6%), followed by the value 8 19 women (34.5%), and 11 (20%) value 2. Will appreciate an average of 4.36 for women without immunosuppression; immunosuppression moderate discreet increased to 4,71; severe immunosuppression, note the maximum numerical expression of 5.47. Analysis of variance showed a unit or statistically significant Association (p 0,05). CONCLUSION: There was a strong association between the deterioration of the immune system and the periodontal status of the women studied
Assuntos
Humanos , Feminino , Síndrome da Imunodeficiência Adquirida , HIV , Doenças Periodontais , Mulheres , OdontologiaRESUMO
Digestive endoscopy is the method for detection and biopsy of epitelial lesions in the gastrointestinal tract. Endoscopic ultrasound (EUS) is a supplement to define endoscopic findings. It helps for the visualization of the GI tract levels with a demonstrated histological correlation, which allows the stratification of the depth (T of the TNM classification). EUS can assess the surroundings of the digestive tract, identifying adenopathies, ascitis and lesions in the left lobe of the liver, as well as tumoral extension to neighboring organs. Fine needle aspiration (FNA) adds the possibility for cytohistological diagnosis of the depth of the GI tract wall and the surrounding structures. EUS accuracy for establishing T in the cancer of GI tract wall varies between 73-95 percent, and N between 70-90 percent. Associating of computed tomography (CT) with EUS results in a more accurate diagnosis. In incipient cancer therapy, EUS plays a role in T and N diagnosis, by selecting or discharging patients for the performance of minimally invasive techniques: ESD (endoscopic submucosal disection), EMR (endoscopic mucosal resection) or polipectomy, specially when no sample is obtained for histology analysis (ablation with Argon plasma coagulation, radiofrequency or heat). In advanced digestive cancer accuracy for stratification helps to choose the most appropriate procedure: resection, palliative care or surgery.
La endoscopia digestiva es el método de detección y biopsia de lesiones epiteliales del tubo gastrointestinal. La endosonografía (EUS = endoscopic ultrasound) es un complemento para definir los hallazgos endoscópicos. Tiene la capacidad de visualizar los estratos del tubo digestivo con una correlación histológica demostrada, lo que permite su uso en la etapificación del compromiso en profundidad (T de la clasificación TNM). La EUS puede evaluar la periferia del tubo digestivo, identificando adenopatías, presencia de ascitis y de lesiones en el lóbulo izquierdo hepático, como también la extensión tumoral a órganos vecinos. La punción aspiración con aguja fina, EUS FNA (FNA = fine needle aspiration), agrega la posibilidad de diagnóstico citohistológico de la profundidad de la pared del tubo digestivo o de las estructuras en su periferia. La precisión de la EUS en establecer T en el cáncer de la pared del tubo digestivo varía entre 73- 95 por ciento y N entre 70-90 por ciento. La asociación de tomografía computada (TC) con EUS logra en su conjunto el diagnóstico más preciso. En la terapia del cáncer incipiente, la EUS cumple un rol en el diagnóstico de T y N, seleccionando o descartando pacientes para la realización de técnicas mínimamente invasivas: ESD (endoscopic submucosal disection), REM (resección endoscópica de la mucosa-endoscopic mucosal resection) o polipectomía, especialmente cuando no se obtiene muestra para histología (ablación con coagulación con Argón, radiofrecuencia o calor). En el cáncer digestivo avanzado la etapificación precisa ayuda a decidir la conducta más adecuada, resectiva o paliativa, endoscópica o quirúrgica.
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Humanos , Endossonografia/métodos , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas , Neoplasias Gástricas/patologia , Neoplasias Gástricas , Endossonografia , Estadiamento de Neoplasias/métodosRESUMO
Neural tube defects (NTDs) are a group of congenital anomalies that affect the central nervious system. Spina Bifida (SB) is the most frecuent NTD in live births andi t is usually associated to disease, disability; and mortality. NTDs are considered as a multifactorial disease. Women who use folic acid periconceptionally are at a 50-70% reduced risk for NTD-affected pregnancies. More than 80 candidates genes to SB are been studied, someones related to folic acid metabolic pathway. MTHFR gene is the gene more studied in NTDs. Its allele 677T is asóciate to higher risk to NTD. It is important to study polymorphisms in MTHFR gene in Chile because Chilean population has dfferent ethnic origen from others previous studied populations.
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Disrafismo Espinal/embriologia , Disrafismo Espinal/genética , Chile , Anormalidades Congênitas , Defeitos do Tubo Neural/embriologia , Defeitos do Tubo Neural/genéticaRESUMO
BACKGROUND: Autoimmune pancreatitis is a special form of chronic pancreatitis, more common in men and usually presenting as obstructive jaundice or abdominal pain. It may be associated with other immunological disorders and sometimes it is possible to find positive serological markers. Typical images show pancreatic enlargement with focal or diffuse stenosis of the pancreatic duct but sometimes it presents as a focal pancreatic mass that is difficult to differentiate from pancreatic carcinoma. AIM: To report ten cases of autoimmune pancreatitis. MATERIAL AND METHODS: Retrospective review of clinical records of 10 patients aged 26 to 56 years (six males) with autoimmune pancreatitis. RESULTS: The clinical presentation was obstructive jaundice in six cases, acute pancreatitis in two, persistent increase in serum amylase and Upase in one, and permanent abdominal pain and weight loss in one. On imaging studies, a circumscribed mass was founded in six patients. An endoscopic retrograde colangiopancreatography was performed in four patients showing an abnormal pancreatic duct in all. Six patients were operated and tissue for pathological study was obtained in five, showing inflammatory infiltration. Vive patients were treated with steroids with a good clinical response. CONCLUSIONS: Autoimmune pancreatitis must be borne in mind in the differential diagnosis of pancreatic lesions.
Assuntos
Doenças Autoimunes , Pancreatite , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/patologia , Doenças Autoimunes/terapia , Colangiopancreatografia Retrógrada Endoscópica , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pancreatite/diagnóstico , Pancreatite/patologia , Pancreatite/terapia , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
Background: Autoimmune pancreatitis is a special form of chronic pancreatitis, more common in men and usually presenting as obstructive jaundice or abdominal pain. It may be associated with other immunological disorders and sometimes it is possible to find positive serological markers. Typical images show pancreatic enlargement with focal or diffuse stenosis of the pancreatic duct but sometimes it presents as a focal pancreatic mass that is difficult to differentiate from pancreatic carcinoma. Aim: To report ten cases of autoimmune pancreatitis. Material and Methods: Retrospective review of clinical records of 10 patients aged 26 to 56 years (six males) with autoimmune pancreatitis. Results: The clinical presentation was obstructive jaundice in six cases, acute pancreatitis in two, persistent increase in serum amylase and Upase in one, and permanent abdominal pain and weight loss in one. On imaging studies, a circumscribed mass was founded in six patients. An endoscopic retrograde colangiopancreatography was performed in four patients showing an abnormal pancreatic duct in all. Six patients were operated and tissue for pathological study was obtained in five, showing inflammatory infiltration. Vive patients were treated with steroids with a good clinical response. Conclusions: Autoimmune pancreatitis must be borne in mind in the differential diagnosis of pancreatic lesions.
Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Autoimunes , Pancreatite , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/patologia , Doenças Autoimunes/terapia , Colangiopancreatografia Retrógrada Endoscópica , Imageamento por Ressonância Magnética , Pancreatite/diagnóstico , Pancreatite/patologia , Pancreatite/terapia , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
Colon cancer (CC) is a prevalent disease, with 800,000 new cases annually worldwide. In Chile the mortality is 6.2 per 100,000 inhabitants, which has increased in recent years, being more common in developed countries. Although, CC are most sporadic forms (70 percent), there are patients with family history (30 percent) and 10 percent have a hereditary component, with a predisposition to the formation of tumors, including CC, the most studied syndrome are: Familial Adenomatous Polyposis (FAP), Peutz-Jeghers syndrome and hereditary non-polyposis colon cancer (HNPCC).The progresses made by the human genome sequencing have allowed to known mutations in oncogenes and tumor suppressor genes that occur in a cell of the normal intestinal mucosa and lead to carcinogenic transformation. This review is an update of the known genes related to the sporadic form of the CC, as well as the most common inherited forms of CC. It is important that health professionals, be aware of developments in this area, because they are who should promote in the community a timely screening for patients with increased risk factors for CC, with the aim of giving an accurate counseling for decrease the morbidity and mortality of this condition.
Assuntos
Humanos , Masculino , Feminino , Colo/anormalidades , Colo/cirurgia , Colo/crescimento & desenvolvimento , Colo/lesões , Genética/classificação , Neoplasias do Colo/complicações , Neoplasias do Colo/diagnóstico , Neoplasias do Colo/genética , Neoplasias do Colo/tratamento farmacológicoAssuntos
Humanos , Aconselhamento Genético , Neoplasias do Colo/diagnóstico , Neoplasias do Colo/genética , Diagnóstico Diferencial , Genes APC , Linhagem , Mutação , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Neoplasias do Colo/terapia , Predisposição Genética para Doença , /genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Nucleares/genéticaRESUMO
The fragile sites are specific loci that show fractures during karyotyping perform under specific laboratory conditions. Are present in normal individuals and are classified by their population frequency. These sites have been associated with an increase in chromosome fragility, fractures and other chromosomal abnormalities. In recent years, the fragile sites have taken great importance because they represent regions in the genome that are particularly sensitive to replicative stress and are frequently rearrenged in tumor cells. Multiple risk factors endogenous and exogenous have been involved in the increase in chromosome fragility, including microorganisms, drugs, illegal drugs and toxins. The fragile sites have provided insight into understanding of the effects of replicative stress on DNA damage and genomic instability in cancer cells. In this work we aim to summarize the limited information available about the topic, and the clinical significance of fragile sites in vivo in the laboratory.
Assuntos
Humanos , Masculino , Feminino , Fragilidade Cromossômica , Análise Citogenética , Instabilidade Cromossômica , Aberrações Cromossômicas , Síndrome do Cromossomo X FrágilRESUMO
Introducción: La formación de médicos especialistas en Otorrinolaringología es una necesidad en nuestro país, lo que debe incluir un aprendizaje de contenidos teóricos y adquisición de habilidades prácticas. Objetivo: Evaluar el cumplimiento de los objetivos prácticos planteados por el programa de formación de especialistas de la Escuela de Postgrado de la Universidad de Chile. Material y método: Estudio retrospectivo, descriptivo a partir de los libros del pabellón del Servicio de Otorrinolaringología del Hospital San Juan de Dios, en el período 1996-2007. Resultados: El cumplimiento global de los objetivos es de 57,3%. Discusión y conclusión: Diversos factores pueden explicar el resultado. Consideramos el más importante la falta de actualización del programa a los avances tecnológicos de la especialidad y a la realidad epidemiológica nacional.
Introduction. Adequate specialty training in otorhinolaryngology should include both theoretical learning and the acquisition of practical skills. Aim. To assess the practical skills objectives reached by the medical specialty training program at the University of Chile Postgraduate School. Material and method. Retrospective and descriptive study based on the surgical ward medical records of the Otorhinolaryngology Department of San Juan de Dios Hospital, between 1996 and 2007. Results. The overall rate of objectives reached was 57,3%. Discussion and conclusion. Several factors may account for the results. Most important in our view is the Program failure to keep updated according to the specialty new technological advances and the local epidemiological reality.
Assuntos
Humanos , Internato e Residência , Procedimentos Cirúrgicos Otorrinolaringológicos/educação , Procedimentos Cirúrgicos Otorrinolaringológicos/estatística & dados numéricos , Chile , Estudos RetrospectivosRESUMO
This review emphasizes the importance of recent developments and knowledge on cell biology and human genetics than have integrated, through a basic-clinical concept to an emerging branch of medicine, called Perinatal and Fetal Medicine. We discuss the possible role of fetal cells and DNA in the diagnosis and treatment of diseases in the intrauterine environment The associated bioethical issues associated to these medical actions are discussed, considering the imminent use of these agents in the human species.