Nuevo conocimiento - BIO

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

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18p-syndrome: Presentation of two cases with alobar holoprosencenphaly
(Colombia Médica, 2010-10-01) Pachajoa Londoño, Harry Mauricio; Isaza, Carolina; Saldarriaga, Wilmar
Introduction: The syndrome by deletion of the short arm of chromosome 18 is an infrequent syndrome, and its phenotypical variability makes it difficult to recognize. Its most frequently observed clinical characteristics include mental retardation, growth retardation, craniofacial malformations, including long ears, microcephaly and short neck; other less frequent associated malformations include holoprosencephaly. Case report: We present two patients with deletion of the short arm of chromosome 18, one presented a de no vo muta tion and the other was produced by a balanced translocation 6p/18p of maternal origin. Both patients presented alobar holoprosencephaly and cebocephaly, low-frequency clinical characteristics in this syndrome. Discussion: alobar holoprosencephaly is a malformation appearing in 10% of patients with deletion of the short arm of chromosome 18; we review the probable physiopathology of holoprosencephaly in this syndrome. © 2010 Universidad del Valle, Facultad de Salud.
A 40-Year-Old Patient With Autoimmune Hepatitis And Portopulmonary Hypertension With Miliary Tuberculosis. Challenges Of Drug Treatment: A Case Report
(American Lung Association, 2016-01-01) Fernández, Liliana
Autoimmune hepatitis (AIH) is a rare disease with prevalence of 1.07-1.9 per 100.000 in Europe affects preferentially females and is characterized by idiopathic hepatitis, increased seric gamma globulins, and circulating non-organ-specific antibodies and the comerstone of the therapy is immunosuppression. The complications of AIH are the same as in any other chronic liver disease including hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PPH). We discuss a case report of PPH and milliary tuberculosis (tb) and interactions between sildenafil and antituberculosis treatment.
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
(BioMed Central Ltd., 2014-06-13) Ruiz Botero, Felipe
Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100cm, a post-pubertal head circumference of 40cm or less, mild mental retardation, an outgoing personality and bone dysplasia. Case presentation. We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. Conclusion: The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases. © 2014 Pachajoa et al.; licensee BioMed Central Ltd.
A rare case of amyopathic juvenile dermatomyositis associated with psoriasis successfully treated with ustekinumab
(Lippincott, Williams & Wilkins, 2017-01-01) Tobón García, Gabriel Jaime
Coexistence between two or more immunological-mediated diseases implies a clinical and therapeutic challenge that is uncommon in the clinical field. We report a rare case of a young patient with amyopathic juvenile dermatomyositis and erythrodermic psoriasis, with an excellent response to ustekinumab.
A Syndrome of Severe Hypoglycemia and Acidosis in Young Immunosuppressed Diabetic Monkeys and Pigs—Association With Sepsis
(Wolters Kluwer Health, Inc., 2012-12-27) Echeverri Junca, Gabriel Jaime
Background: Large animals treated with immunosuppressive drugs for preclinical experiments of transplantation have increased risks of infection, which can be compounded by the induction of diabetes if islet transplantation is planned. Methods: We report our experience with severe sepsis in two young cynomolgus monkeys and five pigs that were subjected to diabetes induction, immunosuppressive therapy, or islet allotransplantation. Results: In two monkeys and five pigs, infection was associated with a syndrome of profound hypoglycemia accompanied by severe acidosis, which was resistant to treatment. We do not believe that this syndrome has been reported previously by others. Conclusions: Despite treatment, this syndrome complicated the interpretation of blood glucose readings as a measure of islet graft function and resulted in death or the need for euthanasia in all seven animals. We tentatively suggest that the syndrome may be related to the presence of microorganisms that metabolize glucose and produce lactate.
La acondroplasia entre las poblaciones antiguas de mesoamérica y sudamérica: Evidencia iconográfica y arqueológica
(Universidad del Valle, 2012-07-30) Pachajoa Londoño, Harry Mauricio
Introducción: La acondroplasia es la forma más frecuente de enanismo. Los individuos presentan acortamiento rizomélico de las extremidades, facies característica con prominencia frontal, hipoplasia media de la cara, genu varo, y la mano tridente. Aunque la etiología de esta enfermedad fue reportada en 1994, evidencia de la existencia esta enfermedad se ha encontrado en poblaciones del antiguo Egipto (2500 aC) y ha sido documentada en poblaciones americanas antiguas. Objetivo: Analizar la presencia de personas con acondroplasia en la sociedad del estado maya de México y Guatemala, durante el período clásico (100- 950 aC ) y postclásico ( 950 a 1519 aC ), del mismo modo, en la sociedad de Tumaco-la Tolita (300 aC - 600 dC) de la costa del Pacífico entre Colombia y Ecuador, y el Estado y la sociedad Moche (100- 600 aC ) de la costa norte del Perú. Métodos: Se realizaron estudios iconográficos y clínico morfológico de algunas de las representaciones artísticas más importantes de las personas de talla baja en estas tres culturas. Conclusiones: Se presenta la hipótesis de que los individuos con talla baja se asociaban de alguna manera con la élite del poder político y religioso.
La acondroplasia entre las poblaciones antiguas de mesoamérica y sudamérica: Evidencia iconográfica y arqueológica]Scopus - Document sea
(Universidad del Valle, 2012-01-01) Pachajoa Londoño, Harry Mauricio
Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations. Objective: To analyze the presence of individuals with achondroplasia in the Mayan state society of Mexico and Guatemala, during the Classical (100-950 AC) and Post-Classical (950 - 1519 AC) periods; likewise, in the hierarchical-chieftain society of Tumaco-la Tolita (300 BC - 600 AC) from the Colombia-Ecuador Pacific coast, and the Moche state society (100 - 600 AC) from the northern coast of Peru. Materials and methods: Iconographic and clinical-morphological studies of some of the most important artistic representations of individuals of short stature in these three cultures. Conclusion: We present the hypothesis that the individuals with short stature were somehow associated with the political and religious power elite.
Adipocitos, obesidad visceral, inflamación y enfermedad cardiovascular
(Sociedad Colombianade Cardiología, 2010-10-01) Manzur, Fernando
La obesidad es un importante problema de salud a nivel mundial. Se considera el resultado de la combinación de factores genéticos, alimentación inadecuada y falta de actividad física regular. La ingestión de una dieta de alta densidad energética, es la principal causa de obesidad visceral o central, ya que el exceso de energía se almacena en los adipocitos, que aumentan en tamaño y en número, o ambos, en especial los viscerales, produciendo un incremento en la tasa de lipólisis, que a su vez, estimula la secreción de citoquinas por leucocitos, macrófagos y adipocitos, y conduce a estado proinflamatorio, resistencia a la insulina y disfunción endotelial. Esta última, favorecida por el proceso inflamatorio, puede ser el vínculo de unión entre la obesidad y la enfermedad cardiovascular. Así, la disfunción del tejido adiposo representa el mecanismo etiopatogénico en el desarrollo de enfermedad cardiovascular, iniciado por la obesidad visceral.
Adverse drug reactions in internal medicine units at a university hospital: A descriptive pilot study
(Universidad del Valle, 2010-01-01) Botero, Marcela
Adverse drug reactions (ADRs) are an important cause of morbidity and mortality among hospitalized patients. Objectives: This study was designed to describe the frequency, severity, and causality of ADRs in internal medicine units at a third-level university hospital. Materials and methods: A descriptive study was performed at internal medicine units, by means of a structured format, review of clinical records, and interview of hospitalized patients. The Naranjo algorithm was applied to patient adverse events to define causality. Additionally, ADRs were classified according to the Rawlins and Thompson criteria. Results: One hundred patients (50 men and 50 women) were included in the study. Ninety nine (99) adverse events were found among the patients. The Naranjo algorithm was applied to adverse events, resulting in twenty nine (29) probable ADRs, twenty (20) possible ADRs and fifty (50) doubtful ADRs. Cardiovascular drugs and antibiotics were the most frequent therapeutic groups associated with ADRs. In addition, two preventable medication errors were identified. Conclusions: Frequency of ADRs was similar to the number reported in other studies in internal medicine units. It is necessary to systematize efforts of pharmacological surveillance in hospital wards, toward an opportune detection and prevention of ADRs. © 2010 Universidad del Valle, Facultad de Salud.
Agonistas inversos del receptor de la histamina (antihistamínicos)
(Editorial Médica Panamericana, 2010-01-01) Cardona Villa, Ricardo
Desde el descubrimiento de la histamina en 1910 ha existido una evidencia creciente de que esta amina biogénica, sintetizada predominantemente en los mastocitos y basófilos, es liberada en proceso inflamatorios, por lo que desempeña un papel fundamental en la patogénesis de las enfermedades alérgicas. Los antihistaminicos constituyen uno de los grupos famacológicos más utilizados en todo el mundo.
Alergia a betalactámicos
(Médica Panamericana, 2010-01-01) Serrano Reyes, Carlos Daniel
La penicilina es un antibiótico del grupo de los betalactámicos, que se obtiene a partir de un hongo llamado Penicillium chrysogenum. Fue descubierta por casualidad en 1928, por el científico británico Alexander Fleming, quien observó que un medio de cultivo para Staphylococcus aureus se había contaminado dichos hongos y que alrededor de la colonia formada por éste se creaba un halo inhibitorio, en el cual no había crecimiento bacteriano. Después de múltiples experimentos científicos se logró aislar y purificar la sustancia responsable de este fenómeno, y debido a que provenía de Penicillium, se denominó penicilina. Este antibiótico cambio la historia de la medicina, debido a que se encontró la cura para enfermedades infecciosas comunes de la época. Además, salvó numerosas vidas en la Segunda Guerra Mundial. Al ser utilidad de forma masiva en un gran número de heridas.
Alergia a las picaduras de himenópteros
(Médica Panamericana, 2010-01-01) Serrano Reyes, Carlos Daniel
Las picaduras de insectos del orden de los himenópteros (básicamente abejas y avispas) causan manifestaciones clínicas variadas, incluyendo reacciones alérgicas sistemáticas severas, como la anafilaxia, en pacientes que han desarrollado alergia mediada por IgE a los componentes de veneno. La anafilaxia puede representar un riesgo vital. Aunque la mayoría de picaduras de insecto producen reacción loca, situaciones potencialmente morales ocurren tanto en niños como adultos
Anafilaxia
(Médica Panamericana, 2010-01-01) Serrano Reyes, Carlos Daniel
La Anafilaxia se define como una reacción alérgica severa, de inicio agudo, que puede ser potencialmente fatal. Se caracteriza por alteración de diversos síntomas: cutáneo, respiratorio, cardiovascular, gastrointestinal y neurológico, en grados variables de intensidad, y con progresión de gravedad variable en el tiempo. Se ha denominado con el término anafilactoide a aquellas reacciones tipo anafilaxia que desde la patogenia no son dedicadas por inmunoglobulina E. Sin embargo, dado que en la clínica y en el tratamiento no hay diferencias entre ambas reacciones, se ha desaconsejado el uso de este término.
Análisis comparativo de marcadores de lesión en modelos de isquemia cerebral focal y global en ratas
(2013-06-01) Arango Dávila, Carlos Alberto
Introducción. Los indicadores espacio-temporales de lesión son esenciales en el estudio neuropatológico y terapéutico de la isquemia cerebral. Objetivo. Optimizar la técnica de dos modelos de isquemia cerebral (focal y global) y hacer un análisis comparativo de la progresión del daño cerebral, mediante marcadores de neurodegeneración. Materiales y métodos. Se sometieron ratas Wistar a oclusión temporal de la arteria cerebral media o a oclusión de cuatro vasos, y se evaluaron comparativamente el tiempo quirúrgico, la tasa de supervivencia y la recuperación neurológica. Se utilizó trifenilo de tetrazolio para establecer la distribución del infarto y tinción con Fluoro-Jade B® como marcador de neurodegeneración. La inmunorreacción de la astroglía se evaluó con el anticuerpo contra la proteína acídica fibrilar de la glía (Glial Fibrillary Acidic Protein, GFAP) y el anticuerpo AT-8 contra la proteína tau hiperfosforilada, 24, 48 y 72 horas después de la isquemia.
Análisis de la distribución espacial y temporal de los defectos congénitos registrados entre 2004 y 2008 en un hospital de tercer nivel en Cali, Colombia
(Universidad del Valle, 2011-01-01) Cuartas, Daniel Elías
Objective: To describe the spatial and temporal distribution of major birth defects and to identify clusters at spatial, temporal and space-temporal levels. Methods: A descriptive study was developed about the space and time distribution of defects registered in Cali between March 2004 and October 2008 using principles of spatial statistics, namely the spatial data exploratory analysis. Results: Higher case density and prevalence was observed among neighborhoods of eastern Cali. Three districts («communes») of the 21 in the city showed a larger probability (50 to 100% larger) of major birth defects. Significant clusters (p<0.05) were proven in spatial, temporal and space-temporal analysis. Conclusions: Birth defects were confirmed clustered in several communes at the poorest areas of the city. Occurrence of defects in this area may be associated, at least in part, to social and environmental inequities. © 2011 Universidad del Valle, Facultad de Salud.
Análisis de los aspectos asociados a la enfermedad mental en Colombia y la formación en psiquiatría
(Asociación Colombiana de Psiquiatría, 2008-01-01) Rojas Fernández, Juan Carlos
La salud y la enfermedad mental son fenómenos de gran complejidad en los cuales intervienen aspectos ecológicos y biopsicosociales. La historia natural de la salud y la enfermedad mental podrían ser modificadas por la ejecución de programas de salud general y salud pública. Método: En primer lugar, se construye un panorama epidemiológico y social mediante un análisis multifactorial de aspectos relacionados con la enfermedad mental, como la pobreza, la violencia, la farmacodependencia y los desastres naturales. En segundo lugar, se examinan las necesidades en psiquiatría y salud mental con el fin de confrontarlas con el primer punto. Y, en tercer lugar, se evalúa mediante diferentes estrategias el estado de la especialidad y las posibilidades de atención.
Anaphylaxis in Latin America: a report of the online Latin American survey on anaphylaxis (OLASA).
(University of São Paulo, 2011-01-01) Adaci Coelho, Magna
Of all patients, 68.5% were older than 18 years, 41.6% were male, and 65.4% experienced the allergic reaction at home. The etiologic agent was identified in 87.4% of cases and predominantly consisted of drugs (31.2%), foods (23.3%), and insect stings (14.9%). The main symptom categories observed during the acute episodes were cutaneous (94.0%) and respiratory (79.0%). The majority of patients (71.6%) were treated initially by a physician (office/emergency room) within the first hour after the reaction occurred (60.2%), and 43.5% recovered in the first hour after treatment. Most patients were treated in an emergency setting, but only 37.3% received parenteral epinephrine alone or associated with other medication. However, 80.5% and 70.2% were treated with corticosteroids or antihistamines (alone or in association), respectively. A total of 12.9% of the patients underwent reanimation maneuvers, and 15.2% were hospitalized. Only 5.8% of the patients returned to the emergency room after discharge, with 21.7% returning in the first 6 hours after initial treatment.
Anatomic variations of the aortic arch depicted on 444 CT angiographies
(Sociedad Anatómica Española, 2016-01-01) Rodríguez Takeuchi, Sara Yukie
With a view to describing the different anatomic variations of aortic arch branching, their prevalence, the demographic characteristics of the sample, and to propose a new classification for aortic arch branching patterns, 460 thoracic computed tomography angiographies (CTA) with 3D reconstruction were reviewed from January 2012 to December 2014. A total of 444 subjects were included in the study. Of those, 153 (34.4%) were male. Anatomic variations were found in 178 (40.1%) subjects. Prevalence by type of aortic arch (AA) branching pattern were found as follows: Type 1 or "Normal branching": Brachiocephalic trunk (BT), left common carotid artery (LCC), left subclavian artery (LS), in this order, was 59.9% (266/444 subjects); Type 2 or "Bovine arch": BT and LCC arising from the AA in a common trunk, was 27.9% (124/444 subjects); Type 3: LCC originating separately from the BT, was 9.9% (44/444 subjects); Type 4, left vertebral artery arising from the AA, was 2.2% (10/444 subjects).
Anatomic variations of the renal arteries from a local study population using 3D computed tomography angiography reconstruction images from a reference hospital in Cali, Colombia
(Elsevier Ltd, 2016-02-22) Prada, Gabriel
With the advances in the new image techniques and 3D modeling, angiography computed tomography (A-CT) has became a very useful image for studying vessels. Renal artery (RA) variations are common, and have a clinical relevance in pre-operative planning. There are several descriptive studies made in high income countries, but there are not many in middle and low income countries. Our objective was to describe prevalence of RA variations in a study population in Cali, Colombia. Methods: A database was made from a selection of A-CT 3D images from January 1, 2012 to September 30, 2014, from which the RA could be; visualized. Patients under 18 were excluded, also with no 3D A-CT, or not of; Colombian nationality. Frequencies, percentages were calculated using; Excel. Results: A total of 560 patients were selected, from which 296 fulfilled all criteria. The most common causes of performing the A-CT were pathologies of the Aorta. Variations of the RA were present in 52% of the patients, 54% were man, 77% had unilateral variation and 33% had bilateral variations, 58% in the right side. The two most common variations were extra Renal arteries (hiliar and polar) seen in 70% of the patients. Conclusions: Prevalence of RA can be as normal as the usual anatomy, more commonly found in men, unilateral and in the right side. The most common variations are accessories arteries to the polar zone and the renal hilium, but early division (double and triple) arteries are also common.
Angioedema
(Médica Panamericana, 2010-01-01) Serrano Reyes, Carlos Daniel
El término angioedema se refiere a un edema de la piel, mucosas o ambas, incluyendo el epitelio intestinal y respiratorio. Su inicio es súbito y su duración variable. El edema es no pruriginoso, no eritematoso y no causa cambios de coloración en la piel; muestra predilección por áreas donde la piel es laxa (cara y genitales). Una de las primeras descripciones de angioedema se realizó en 1876, por el doctor John Laws Milton. En 1888, Osler hizo la distinción entre angioedema hereditario y adquirido. Posteriormente, en 1963, Donaldson y Evans describieron que su causa era deficiencia heredada del inhibidor de la esterasa del C1. En el presente capítulo se hará una revisión detallada de los tipos de angiodema, haciendo énfasis en la fisiopatología y el tratamiento.

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