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URI permanente para esta colecciónhttp://hdl.handle.net/10906/78214

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    Vascular disruption birth defects are not associated to chromosomal alterations
    (Asociación Mexicana de Ginecología y Obstetricia, 2015-11-01) Méndez, Fabián
    Antecedentes: 2 a 3% de los recién nacidos tienen un defecto congénito; algunos de los debidos a disrupción vascular no se relacionan con alteraciones cromosómicas detectadas por cariotipo convencional. Objetivo: determinar, en pacientes con defectos por disrupción vascular de una población colombiana, la frecuencia de alteraciones cromosómicas detectadas por cariotipo bandeo G de alta resolución. Material y método: estudio transversal efectuado en una muestra de pacientes identificados por el sistema de vigilancia de defectos congénitos en un hospital de referencia de Cali, Colombia. Resultados: en un periodo de 36 meses se identificaron 41 casos con defectos por disrupción vascular. Los más frecuentes fueron: reducción transversal, hidranencefalia y gastrosquisis. En la evaluación independiente por dos citogenetistas expertos, en ninguna de las muestras se identificaron alteraciones cromosómicas por medio del cariotipo con bandeo G. Conclusiones: se recomienda que la asesoría genética a los casos de defectos por disrupción vascular se efectúe teniendo en cuenta los riesgos de recurrencia empíricos reportados para cada de uno los tipos de defectos por disrupción vascular y el uso del cariotipo debe limitarse a los casos con otras malformaciones o sospecha de alteración cromosómica por el fenotipo.
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    Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
    (Wiley-Blackwell, 2016-11-01) Ramirez-Botero, Andrés Felipe
    Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.
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    Registro de trauma de la Sociedad Panamericana de Trauma: Un año de experiencia en dos hospitales en el suroccidente colombiano
    (Universidad del Valle, 2016-01-01) Gutiérrez-Martínez, Maria Isabel
    Background: Emergency care information systems in trauma are essential to improve the decision making and identify potential areas of intervention. Objective: To describe the first year of experience of trauma registry in two reference trauma centers of the southwestern Colombia. Methods: A study conducted in two reference trauma centers of Cali city. There were included those patients with any injury from external causes or trauma occurred between January 1st and December 31st of 2012. Information related with demographics, injury mechanism, severity injury (ISS) and mortality were collected. We presented a descriptive analysis. Results: There were registered 17,431 patients whereof 67.8% were male with a mean of 30 (±20) years old. Workplace injuries were the 28.2% cause of emergency consultation, and falls were the most prevalent trauma mechanism. Majority of patients with a ISS ≥15 were in a range age of 18-35 years (6.4%). The 28% of patients with gunshot wounds had a ISS ≥15. An overall of 2.5% of included patients died and those who had a ISS ≥15 and gunshot wounds showed a mortality of 54%. Conclusion: Upon the implementation of the trauma registry in two main hospitals of Cali city, we identify that falls and workplace injuries were the leading cause of admission to the emergency room. Severely compromised patients are in the range age of 18-35 years old. Mortality was higher for those patients who suffered gunshot wounds.
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    The Endothelium in Sepsis
    (Lippincott Williams & Wilkins, 2016-03-01) Murray, Patrick
    Sepsis affects practically all aspects of endothelial cell (EC) function and is thought to be the key factor in the progression from sepsis to organ failure. Endothelial functions affected by sepsis include vasoregulation, barrier function, inflammation, and hemostasis. These are among other mechanisms often mediated by glycocalyx shedding, such as abnormal nitric oxide metabolism, up-regulation of reactive oxygen species generation due to down-regulation of endothelial-associated antioxidant defenses, transcellular communication, proteases, exposure of adhesion molecules, and activation of tissue factor. This review covers current insight in EC-associated hemostatic responses to sepsis and the EC response to inflammation. The endothelial cell lining is highly heterogeneous between different organ systems and consequently also in its response to sepsis. In this context, we discuss the response of the endothelial cell lining to sepsis in the kidney, liver, and lung. Finally, we discuss evidence as to whether the EC response to sepsis is adaptive or maladaptive. This study is a result of an Acute Dialysis Quality Initiative XIV Sepsis Workgroup meeting held in Bogota, Columbia, between October 12 and 15, 2014.
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    Successful Treatment with Bone Marrow Transplantation in a Children with Familial Hemophagocytic Lymphohistiocytosis Type 3 (FHL3) with Mutation Homozygous c.9049G > A in Gen UNc13D
    (Kluwer Academic-Plenum-Human Sciences Press, 2015-11-01) Perez, Paola
    Conferencia: 4ta Reunión de la Sociedad Latinoamericana de Inmunodeficiencias (LASID) Volumen: 35 sobre Tratamiento exitoso con trasplante de médula ósea en niños con linfohistiocitosis hemofagocítica familiar tipo 3 (FHL3) con mutación homocigota c.9049G> A en gen UNc13D
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    Understanding the venous–arterial CO2 to arterial–venous O2 content difference ratio
    (Springer, 2016-11-12) Ospina-Tascón, Gustavo A.
    Introduction Early identification of tissue hypoperfusion is a cornerstone of shock management [1]. Normal macrohemodynamic and oxygen-derived parameters do not, however, rule out the presence of tissue hypoxia [2]. In this setting, carbon dioxide (CO2)-derived variables may provide information on macroand microvascular blood flow [3] and also on the presence of anaerobic metabolism [4, 5]. Importantly, variations in CO2 occur more rapidly than changes in lactate kinetics, making the former an attractive biomarker for monitoring, especially during the early stages of resuscitation [6, 7].
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    Soluble or soluble/membrane TNF-± inhibitors protect the brain from focal ischemic injury in rats
    (Informa Healthcare, 2015-12-02) Londoño, Ana C.
    Tumor Necrosis Factor-alpha (TNF-α) is an immunomodulatory and proinflammatory cytokine implicated in neuro-inflammation and neuronal damage in response to cerebral ischemia. The present study tested the hypothesis that anti-TNF-α agents may be protective against cerebral infarction. Transient focal ischemia was artificially induced in anesthetized adult male Wistar rats (300–350 g) by middle cerebral artery occlusion (MCAO) with an intraluminal suture. TNF-α function was interfered with either a chimeric monoclonal antibody against TNF-α (infliximab-7 mg/kg) aiming to TNF-α soluble and membrane-attached form; or a chimeric fusion protein of TNF-α receptor-2 with a fragment crystallizable (Fc) region of IgG1 (etanercept-5 mg/kg) aiming for the TNF-α soluble form. Both agents were administered intraperitoneally 0 or 6 h after inducing ischemia. Infarct volume was measured by 2,3,5-triphenyltetrazolium chloride staining. Cerebral infarct volume was significantly reduced in either etanercept or infliximab-treated group compared with non-treated MCAO rats 24 h after reperfusion. These results suggest that anti-TNF-α agents may reduce focal ischemic injury in rats.
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    Trasplante combinado hígado-riñón en la Fundación Valle del Lili, Cali, Colombia - Experiencia de un centro
    (Asociación Colombiana de Gastroenterología, 2016-04-01) Durán R, Carlos Eduardo
    Introducción: el trasplante combinado de hígado y riñón (CLK) ha mostrado ser una buena alternativa para pacientes con diagnóstico concomitante de enfermedad renal crónica (ERC) y enfermedad hepática terminal. Algunos estudios han mostrado además un beneficio inmunológico del trasplante combinado, con disminución de la tasa de rechazo del injerto renal.
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    Depressive Disorder, Anxiety Disorder and Chronic Pain: Multiple Manifestations of a Common Clinical and Pathophysiological Core
    (Elsevier Doyma, 2016-12-14) Arango Dávila, César Augusto
    Introduction: A high proportion of depressive disorders are accompanied by anxious manifestations, just as depression and anxiety often present with many painful manifestations, or conversely, painful manifestations cause or worsen depressive and anxious expressions. There is increasingly more evidence of the pathophysiological, and neurophysiological and technical imaging similarity of pain and depression. Methods: Narrative review of the pathophysiological and clinical aspects of depression and chronic pain comorbidity. Research articles are included that emphasise the most relevant elements related to understanding the pathophysiology of both manifestations. Results: The pathological origin, physiology and clinical approach to these disorders have been more clearly established with the latest advances in biochemical and cellular techniques, as well as the advent of imaging technologies.
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    Image analysis in Gomori´s trichrome stain of skeletal muscles subjected to ischemia and reperfusion injury
    (West Bengal Veterinary ASSOC, 2016-06-01) Florez Elvira, Liliana Janeth
    Conditions that produce ischemia and reperfusion injury include orthopedic surgeries, vascular diseases and accidents in remote places in which use of a manual tourniquet is required. Tissues under such stress suffer the consequences of evidenced by changes in their normal microscopic organization that can be reversible or irreversible according to the time and severity of lesion. An experimental model of ischemia has been designed taking into account the characteristics similar to a surgical procedure, from preparation for anesthesia up to the postsurgical follow up of each animal until it finishes the established time of reperfusion. Two muscles, soleus and extensor carpi radialis longus, dissected from Wistar rats that were underwent to short periods of ischemia and short and prolonged periods of reperfusion up to 32 days. There were no significant changes in the macroscopic weight of muscles, but significant differences were found in the area occupied by intramuscular extracellular matrix. During reperfusion, a partial recovery was observed until the last day of study. If we pretend to extrapolate these results to clinical areas, its importance focuses in the recovering of function and the following up of patients after surgical procedures as studied in the present experiment.
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    Costo-Efectividad De Métodos Diagnósticos En Apendicitis, Revisión Sistemática
    (Asociación Colombiana de Cirugía, 2013-07-01) Carrillo Gómez, Diana Cristina
    The diagnosis of appendicitis in some cases is challenging, requiring the use of imaging techniques such as ultrasound and computed tomography. However there is controversy about the appropriate diagnostic approach because the use of them can raise costs significantly. The purpose of this study is to review systematically the published studies in order to determine the most cost-effective alternative in the diagnosis of this condition.
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    Caracterización clínica, bioquímica y molecular de una paciente colombiana con enfermedad de Tay-Sachs
    (Sociedad Española de Neurología, 2016-02-01) Botero, Verónica
    La enfermedad de Tay-Sachs es un trastorno neurodegenerativo, autosómico recesivo, que se caracteriza por una mutación o deleción en el gen de la hexosaminidasa A (HEXA), ubicado en la posición 15q23; este gen codifica para la subunidad alfa de hexosaminidasa A, una enzima lisosomal que participa en el metabolismo de los gangliósidos 1 2 . La enfermedad de Tay-Sachs está incluida dentro de las enfermedades de depósito lisosomal y se manifiesta generalmente después de un periodo de desarrollo neurológico normal, donde los gangliósidos (GM2), un tipo de esfingolípidos de la membrana de células del sistema nervioso central, se almacenan a causa de la carencia de la hexosaminidasa A. La acumulación de gangliósidos genera daño neurológico irreversible y la muerte del paciente a edades tempranas 3 4
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    Chromosome 17p13.3 microdeletion syndrome with unaltered PAFAH1B1 gene
    (Sociedad Española de Neurología, 2016-12-09) Pachajoa Londoño, Harry Mauricio
    La deleción del 17p13.3, incluyendo el gen PAFAH1B1 o LIS1, se asocia a malformaciones cerebrales tipo lisencefalia; caracterizada por reducción de giros y adelgazamiento cortical, sin embargo existen fenotipos variables que van desde lisencefalia aislada hasta síndrome de Miller-Dieker (SMD) (MM: 247200)1. Descrito por primera vez por Miller en 1963 como una condición genética con una expresión clínica variable, el cual puede ser causado por diferentes anormalidades genéticas tales como: deleción, duplicación, síndrome de genes contiguos y mutación del gen PAFAH1B12. Por tal razón la combinación de fenotipos es frecuente y es posible encontrar microdeleciones de la región 17p13.3 en ausencia de lisencefalia implicando que la expresión del gen PAFAH1B1 es normal3.
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    Isquemia cerebral: evolución hispatológica en un modelo experimental
    (Unisanitas, 2016-05-23) Vera González, Alejandro
    Introducción: la obstrucción aguda de la Arteria Cerebral Media produce disminución del flujo sanguíneo del territorio de irrigación correspondiente, lo cual desencadena un proceso de muerte y estrés celular que da lugar al foco isquémico y zona de penumbra respectivamente. Modificaciones en el citoesqueleto neuronal, glial y en el inmunofenotipo de la microglia son marcadores sensibles de sufrimiento celular. Has-ta el momento no se ha evaluado la evolución de los diferentes compartimientos celulares en un modelo integrado que permite conocer la evolución citoarquitectónica del infarto. Objetivos: evaluar en un modelo de lesión isquémica experimental, los cambios en los compartimientos celulares del tejido cerebral y plan-tear un modelo estructural de evolución de la lesión. Metodología: 22 ratas machos Wistar, peso promedio de 280 gramos. Mediante la técnica de obstrucción intraluminal de la arteria cerebral media, con tiempo de reperfusión de 3, 12, 24 y 72 horas. Se realizaron cortes histológicos procesados para coloración bási-ca e inmunohistoquímica para MAP-2 (citoesqueleto neuronal), GFAP (citoesqueleto glial), HMC (microgía) y Caspasa-3 (actividad proteolítica).
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    From the embryological basis to the clinical prune belly syndrome
    (Editorial Ciencias Medicas, 2016-04-01) Pachajoa Londoño, Harry Mauricio
    Prune Belly syndrome is a congenital disorder that is due, as currently reported, to genetic basis. It is characterized by the following triad: deficiency of abdominal muscles in varying degrees, bilateral cryptorchidism and urinary tract anomalies. Two variants of the syndrome are identified, a deadly one and another compatible with life. © 2016, Editorial Ciencias Medicas. All rights reserved.
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    Duplicación cráneo-facial (Diprosopus) con trioftalmos diagnosticado mediante ecografía obstétrica 3D
    (Editorial Ciencias Medicas, 2016-01-16) Isaza, Carolina
    Craniofacial duplication (diprosopus) is the result of the less common form of coupled twins. The use of 3D ultrasound for diagnosis of this disease has been reported. A second case of this disease occurs in Colombia. A clinical case of a son of 28-year-old mother, who underwent prenatal diagnosis with 3D ultrasound of craniofacial duplication and spine.Prenatal karyotype banding G: 46XX. At birth, a female fetus was found with craniofacial duplication, the presence of three eyes, two noses and two mouths, the presence of duplicate backbone up to the cervical region, and spina bifida at the cervical level. The use of 3D ultrasound allows early diagnosis of this disease, allowing a multidisciplinary approach of pregnant women. © 2016, Editorial Ciencias Medicas. All rights reserved.
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    Encefalocele frontonasal, reporte de un caso con diagnóstico prenatal
    (Editorial Ciencias Medicas, 2016-01-01) Quintero, Juan Carlos
    The encephalocele is a major birth defect characterized by herniation of neural tissue and meninges through a defect in the skull, due to alterations of neural tube closure occurring in fourth week of pregnancy. Prenatal diagnosis is possible through 2D and 3D ultrasound. We report a case of anterior encephalocele, a rare disease among the defects of neural tube closure, with diagnosis by 3D and 2D ultrasonography, which was confirmed at birth by clinical findings and scan. © 2016, Editorial Ciencias Medicas. All rights reserved.
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    Lymphomatoid granulomatosis of the brain: A case report
    (Medknow Publications, 2016-11-01) Potes, Laura I.
    Background: Lymphomatoid granulomatosis is a rare disorder of the central nervous system (CNS) with few cases being reported in literature. We present the case of an adult with an unusual lesion of the CNS who presented with motor seizures and was diagnosed with lymphomatoid granulomatosis, followed by a discussion of the process of evaluation and management. Case Description: A 42-year-old male presented with motor seizures and loss of consciousness for 10 minutes along with dysarthria and left hemiplegia. Neurological examination and imaging with magnetic resonance imaging (MRI) of the brain revealed a mass in the right striatum.
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    Liver transplantation for unresectable metastases from colon adenocarcinoma
    (S. Karger AG, 2016-10-06) Buitrago, Diego
    Liver transplantation is an option that improves quality of life and prolongs life expectancy in patients with different types of liver disease. Liver transplantation is controversial for colorectal metastases and is not recommended in clinical practice guidelines. In this case report, we present, to our knowledge, the first liver transplantation for colorectal metastases conducted in Colombia, with a successful follow-up of more than 2 years. Patients with these characteristics who underwent liver transplantation experience reduced mortality and exponentially improved quality of life.
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    Liver Angiosarcoma: Rare tumour associated with a poor prognosis, literature review and case report
    (Elsevier Ltd, 2016-09-29) Echeverri Junca, Gabriel Jaime
    We report a case of minimally invasive nephrectomy of a kidney transplanted into the abdominal cavity in a child. A 15-year-old girl underwent transplantation with a cadaveric donor kidney due to congenital pyelonephritis, vesicoureteral reflux, and secondary bladder atrophy. The transplant was complicated by hyperacute rejection, cytomegalovirus infection, and anastomotic stenosis of the Bricker neobladder. After recurrent urinary tract infections, the patient was reintroduced to hemodialysis in 2010. After pneumo-peritoneum, we placed 2 10-mm trocars in the hypochondrium and left side and 2 5-mm in the left iliac fossa and right upper quadrant