Avaliação demográfica, clinico-laboratorial e genética de indivíduos com lupus eritematoso sistêmico e artrite reumatóide residentes em região tropical

The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found

Vinculação no adolescente com perturbação estado-limite da personalidade – Estudo exploratório

Dissertação de Mestrado apresentada ao Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Clínica.

Persistent infectious and tropical diseases in immigrant correctional populations

A number of infectious diseases amongst travelers and the immigrant populations are a major public health concern. Some have a long incubation period or remain asymptomatic or paucisymptomatic for many years before leading to significant clinical manifestations and/or complications. HIV, hepatitis B and C, tuberculosis or latent syphilis are among the most significant persistent diseases in migrants. Schistosomiasis and strongyloidiasis, for instance, are persistent helminthic infections that may cause significant morbidity, particularly in patients co-infected with HIV, hepatitis B and C. Chagas disease, which was initially confined to Latin America, must also now be considered in immigrants from endemic countries. Visceral leishmaniasis and malaria are other examples of parasitic diseases that must be taken into account by physicians treating incarcerated migrants. The focus of this review article is on the risk of neglected tropical diseases in particularly vulnerable correctional populations and on the risk of infectious diseases that commonly affect migrants but which are often underestimated.

Behavioural alterations are independent of sickness behaviour in chronic experimental Chagas disease

The existence of the nervous form of Chagas disease is a matter of discussion since Carlos Chagas described neurological disorders, learning and behavioural alterations in Trypanosoma cruzi-infected individuals. In most patients, the clinical manifestations of the acute phase, including neurological abnormalities, resolve spontaneously without apparent consequence in the chronic phase of infection. However, chronic Chagas disease patients have behavioural changes such as psychomotor alterations, attention and memory deficits, and depression. In the present study, we tested whether or not behavioural alterations are reproducible in experimental models. We show that C57BL/6 mice chronically infected with the Colombian strain of T. cruzi (150 days post-infection) exhibit behavioural changes as (i) depression in the tail suspension and forced swim tests, (ii) anxiety analysed by elevated plus maze and open field test sand and (iii) motor coordination in the rotarod test. These alterations are neither associated with neuromuscular disorders assessed by the grip strength test nor with sickness behaviour analysed by temperature variation sand weight loss. Therefore, chronically T. cruzi-infected mice replicate behavioural alterations (depression and anxiety) detected in Chagas disease patients opening an opportunity to study the interconnection and the physiopathology of these two biological processes in an infectious scenario.

Primary dengue haemorrhagic fever in patients from northeast of Brazil is associated with high levels of interferon-b during acute phase

Dengue is an acute febrile disease caused by the mosquito-borne dengue virus (DENV) that according to clinical manifestations can be classified as asymptomatic, mild or severe dengue. Severe dengue cases have been associated with an unbalanced immune response characterised by an over secretion of inflammatory cytokines. In the present study we measured type I interferon (IFN-I) transcript and circulating levels in primary and secondary DENV infected patients. We observed that dengue fever (DF) and dengue haemorrhagic fever (DHF) patients express IFN-I differently. While DF and DHF patients express interferon-a similarly (52,71 ± 7,40 and 49,05 ± 7,70, respectively), high levels of circulating IFN-b were associated with primary DHF patients. On the other hand, secondary DHF patients were not able to secrete large amounts of IFN-b which in turn may have influenced the high-level of viraemia. Our results suggest that, in patients from our cohort, infection by DENV serotype 3 elicits an innate response characterised by higher levels of IFN-b in the DHF patients with primary infection, which could contribute to control infection evidenced by the low-level of viraemia in these patients. The present findings may contribute to shed light in the role of innate immune response in dengue pathogenesis.

Initial approach to irst-time seizures in pediatrics

Objective: Prove that conducting complementary studies at laboratories and imaging studies are unnecessary in irst-time unprovoked seizures, since there is no change in the evolution and prognosis of the disease, as well as the study of our population, the incidence rate and the proportion of our patients that have been studied and given maintenance treatment, so it can be determined whether or not our population should follow the suggestions of the American Academy of Pediatrics and the Spanish Pediatric Association. Methods: An observational study, including patients diagnosed with irst-time unprovoked seizures. They were followed up on by the emergency department and information was collected from their clinical history and compared with the results of the different studies between patients that suffered just one seizure and the ones that had recurrent seizures. Results: Thirty one patients were included, 14 males and 17 females. The average age was 5.5 years old. The 100% of patients were studied, and the groups were compared. The signiicant study was the electroencephalogram (EEG) with a p=0.02 (signiicance p<0.05), incidence of 41%. Conclusions: The study and diagnosis of irst-time unprovoked seizures is based on clinical manifestations. The EEG is important in the study and classiication of unprovoked seizures. Our population has an incidence and recurrence rate similar to that in the bibliography, and for that reason, this study suggests that the diagnostic and therapeutic guidelines of the American Academy of Pediatrics and the Spanish Pediatric Association should be followed.

Kawasaki Disease and Peripheral Gangrene in Infancy

Introduction: Early diagnosis and treatment of Kawasaki disease as the most common cause of acquired heart disease in childhood, may significantly improve the prognosis. Diagnosing infantile Kawasaki (younger than a year) is difficult because of obscure symptoms; at the same time they are at the higher risk of coronary abnormalities. Case Presentation: We report three infants with prolonged (more than 5 days) fever and peripheral gangrene without any other clinical manifestations of Kawasaki disease. Kawasaki was diagnosed due to dilation of coronary artery and other aortic branches, thrombocytosis, and rising of ESR and CRP. All patients were treated with high dose aspirin, IVIG and pulse therapy with methylprednisolone. Additionally, cytotoxic drugs or infliximab were used for two of them because of severe aneurysms in the aortic branches. All 3 patients received aspirin with anti-platelet aggregation dose and 2 patients heparin as an anti-coagulant agent for longtime. After adequate treatment, peripheral gangrene, arterial dilations and aneurysms improved, but during 12 months follow-up coronary aneurysms did not improve completely. Conclusions: Peripheral gangrene must be regarded as an important sign of infantile Kawasaki disease early treatment of which can prevent severe permanent coronary involvements and sequels.

Características de la esclerosis sistémica, en pacientes de los hospitales Vicente Corral Moscoso y José Carrasco Arteaga durante el período enero 2008 – junio 2015

Antecedentes: La esclerosis sistémica es una enfermedad crónica del tejido conectivo, de etiología desconocida; caracterizada por presentar vasculopatía, autoinmunidad y fibrosis. Genera importantes repercusiones socio sanitarias y hasta la actualidad no tiene cura. Objetivo: Determinar las características demográficas, clínicas e inmunológicas de la Esclerosis Sistémica en pacientes de los Hospitales Vicente Corral Moscoso y José Carrasco Arteaga. Metodología: Es un estudio cuantitativo, descriptivo y retrospectivo. El universo está constituido por los pacientes diagnosticados de esclerosis sistémica en ambos hospitales. La información se recopiló de las historias clínicas y se analizó en Microsoft Excel 2013 y SPSS 19. Se utilizaron variables cuantitativas y cualitativas, mostrándose a través de frecuencias y porcentajes. Se consideró un nivel de asociación estadística para p<0.05. Resultados: La esclerosis sistémica es más común en mujeres. La forma limitada es la predominante. Las manifestaciones clínicas más comunes son las cutáneas, seguida de las osteomusculares y el Síndrome de Raynaud. El grupo de 50-64 años es el que muestra mayor grado de afectación general; en los más jóvenes las afectaciones cutáneas y osteomusculares son las de mayor frecuencia. Los anticuerpos antinucleares resultaron los de mejor valor diagnóstico, siendo positivos en más del 70% de los pacientes. Los tratamientos más comunes se basan en controlar los síntomas, siendo el paracetamol el más utilizado (80,4%). Conclusiones: La Esclerosis Sistémica afecta más a mujeres que a hombres, el grupo etario más frecuente está entre los 25-64 años. La forma limitada predomina sobre la difusa. Sus principales manifestaciones clínicas son las cutáneas

Miomatosis uterina: frecuencia y características clínico-ecográficas en el Hospital Vicente Corral Moscoso, periodo 2010-2014

Antecedentes: La miomatosis es la neoplasia benigna más común en ginecología, presentándose en 20-30% en mujeres en edad fértil, es indicación frecuente de histerectomía entre los 35 y 54 años y puede producir infertilidad, coexistir con un embarazo y causar complicaciones en el mismo. Son tumores de fibras musculares lisas y tejido conectivo con manifestaciones clínicas variables dependiendo del tamaño, posición y número, aunque la mayoría son asintomáticos, es un diagnóstico común en ginecología y generan importantes gastos en salud. Objetivo: Determinar la frecuencia y las características clínico-ecográficas de la miomatosis uterina en las pacientes atendidas en el Hospital Vicente Corral Moscoso, periodo 2010- 2014 Metodología: Se realizó un estudio descriptivo, retrospectivo. El universo de estudio estuvo conformado por las historias clínicas de pacientes hospitalizadas en el departamento de ginecología del Hospital Vicente Corral Moscoso, periodo 2010-2014, los datos fueron analizados en la base de datos Excel 2010 y SPSS 20, los resultados fueron presentados en cuadros y gráficos, para las variables cualitativas se utilizó medidas de frecuencia absolutas y relativas; y para las variables cuantitativas medidas de tendencia central y dispersión. Resultados: Se obtuvieron 303 casos, se observó que el mayor número de casos (90.1%) se presentó en mujeres que tenían una edad mayor a 35 años con una media de 43.31 años y DS de 6.96. Los miomas más frecuentes fueron los intramurales (50.8 %); El síntoma de consulta más frecuente fue el sangrado transvaginal (74.6%)

Caracterização clínica, metabólica e hormonal de portadores de lipodistrofia parcial familiar

Dissertação (mestrado)—Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-Graduação em Ciências da Saúde, 2015.

Dinâmica das integrações de minicírculos de kDNA de Trypanosoma Cruzi no genoma hospedeiro

Dissertação (mestrado)—Universidade de Brasília, Faculdade de Medicina, Programa de Pós-Graduação em Patologia Molecular, 2016.

Eficacia de la infiltración de Plasma Rico en Plaquetas (PRP) en pacientes diagnosticados del Síndrome de la Fascia Plantar (SFP) desde el punto de vista clínico y funcional

On the basis of the knowledge that the entheses between the plantar fascia and the calcaneus may exhibit a varied pathology, we considered the need to value the pathological factors by illustrating the anatomical changes in the Plantar Fascia Syndrome (PFS) with easy-to-obtain images which allowed us to substantiate our claims. Accordingly, we analized the anatomical (Orts Llorca, 1977; Llusá, 2007; Sobotta, 2007; Domenech Mateu, 2012; Rodriguez Baeza 2012) and biomechanical (Arandes, 1956; Viladot 1979; Caturla, 2001; Safe, 2001) literature in order to better know the location of the pathology and also to assess the functional reasons that could favor this disease. A study of the affected area by Nuclear Magnetic Resonance (NMR) revealed the presence of bone affections such as bone edema, subchondral lesions and several other bone pathologies together with fascia intrinsic injuries such as myxoid degeneration, intrasubstance fissures and perifascial edematous lesions (Larroca, 2013; Conejero, 2014). Injuries not properly treated during the acute phase can evolve into chronic processes which, month after month, become ever more difficult to resolve. In addition, as seen throughout this study, there are changes in the anatomical normality of the foot usually associated with pathological conditions of the plantar fascia. Once the pathological aspects of PFS are identified and their location is established, clinical manifestations should be registered in order to define this syndrome. Pain is the main symptom in patients with PFS and is associated, in many occasions, with tightness or stiffness of the plantar area, limited mobility of the arch of the ankle and, inevitably, a progressive functional deterioration. Thus, that sharp and stabbing pain felt when one puts the foot on the floor after a period of rest located in the front lower face of the heel and irradiating and/or projecting to the middle of the sole of the foot would be synonymous with Plantar Fascia Syndrome (PFS)...

Design of a myofascial therapy protocol for the treatment of hemophilic arthropathy of the knee and ankle

Hemophilic arthropathy limits daily life activities of patients with hemophilia, presenting with clinical manifestations such as chronic pain, limited mobility, or muscular atrophy. Although physical therapy is considered essential for these patients, few clinical studies have demonstrated the efficacy and safety of the various physiotherapy techniques. Physical therapy may be useful for treating hemophilic arthropathy by applying safe and effective techniques. However, it is necessary to create protocols for possible treatments to avoid the risk of bleeding in these patients. This article describes the musculoskeletal pathology of hemophilic arthropathy and characteristics of fascial therapy. This systematic protocol for treatment by fascial therapy of knee and ankle arthropathy in patients with hemophilia provides an analysis of the techniques that, depending on their purpose and methodology, can be used in these patients. Similarly, the protocol's applicability is analyzed and the steps to be followed in future research studies are described. Fascial therapy is a promising physiotherapy technique for treating fascial tissue and joint contractures in patients with hemophilic arthropathy. More research is needed to assess the efficacy and safety of this intervention in patients with hemophilia, particularly with randomized multicenter clinical trials

Trastornos gastrointestinales funcionales en menores de dos años: prevalencia y factores asociados en una IPS Bogotá 2015 - 2016

Antecedentes: Los trastornos gastrointestinales funcionales de la infancia (TGFI) son manifestaciones gastrointestinales crónicas en cualquier parte del tubo digestivo sin daño estructural o bioquímico los cuales se pueden clasificar según los criterios de ROMA III. Se desconoce su prevalencia en niños latinoamericanos menores de 4 años. Objetivos: Estimar la prevalencia de los TGFI y cada una de sus entidades en menores de 2 años y explorar sus factores asociados. Metodología: Estudio corte trasversal con muestra aleatoria (n=323) tomada de la población de una institución de salud en la ciudad de Bogotá, realizando mediante encuesta diligenciada por los padres. El análisis se realizó por medio del software SPSS© utilizando estadística descriptiva y análisis bivariado, como medida de asociación se calculó las Razones de Disparidad (RD) con IC95%. Resultados: Se encontró una prevalencia de TGFI de 22.1%, diarrea funcional 14.6%, disquecia 12%, regurgitación 9.2%, estreñimiento 3.3%, vómito cíclico 2%, cólico infantil 1.6% y rumiación 0%. La administración de tetero durante la estancia hospitalaria neonatal se asocia con vómito cíclico RD= 6 IC 95% (1.076 – 33.447) p=0.021. La administración de formula infantil durante los primeros 6 meses de vida se asocia con diarrea funcional RD= 0.348 IC 95% (0.149 – 0.813) p=0.012 Conclusiónes: Los TGFI son una causa frecuente de molestias en los menores de 2 años de edad. Sugerimos realizar la validación del cuestionario “questionnaire on infant/toddler gastrointestinal symptoms rome version III” con el fin de mejorar la validez y precisión de los hallazgos en estudios futuros.

Registro de pacientes con distrofinopatías en Colombia

INTRODUCCIÓN. La distrofia muscular de Duchenne es una enfermedad neuromuscular con una herencia recesiva ligada al X que afecta a 1 de cada 3500 niños nacidos vivos. Se produce por mutaciones en el gen DMD que codifica para la distrofina. Se caracteriza por manifestaciones clínicas variables típicas de una distrofia muscular proximal progresiva. OBJETIVO. Realizar el primer registro en Colombia de los pacientes identificados con distrofinopatías, teniendo en cuenta características clínicas y paraclínicas, así como las mutaciones causales de esta patología. METODOLOGÍA Es un estudio descriptivo, transversal, de la revisión de historias clínicas de los pacientes con diagnóstico de DMD atendidos en la consulta de Genética de la Universidad del Rosario durante los años 2006 a 2015. RESULTADOS Se identificaron 99 pacientes, de los cuales 56 (56,56%) corresponden al fenotipo Duchenne y 12 (12,12%) al Becker. No fue posible clasificar a 31 pacientes (31,3%) por falta de datos clínicos. La edad de inicio de los síntomas fue en promedio de 4,41 años. Las mutaciones más frecuentes fueron las deleciones (69%), seguidas por las mutaciones puntuales(14%), las duplicaciones (11%) y por otras mutaciones (4%). CONCLUSIONES Este registro de distrofinopatías es el primero reportado en Colombia y el punto de partida para conocer la incidencia de la enfermedad, caracterización clínica y molecular de los pacientes, garantizando así el acceso oportuno a los nuevos tratamientos de medicina de precisión que permitan mejorar la calidad de vida de los pacientes y sus familias.