RESUMEN
BACKGROUND: Actinomycosis is an unusual chronic bacterial infection, even rarer in people living with HIV. It is not considered an AIDS-defining disease. However, the role in co-presentation or overlap with other opportunistic conditions of advanced HIV is unknown. CASE PRESENTATION: A 49-year-old Peruvian male presented with a 4-month history of dysphagia, odynophagia, hyporexia and wasting. He underwent an upper digestive endoscopy, in which ulcers with a necrotic center were observed, therefore, the initial diagnostic assumption was esophageal cancer. Subsequent pathology report excluded neoplasms and confirmed the diagnosis of actinomycosis. Serology for human immunodeficiency virus was requested, yielding a positive result. Antimicrobial treatment with amoxicillin and antiretroviral therapy were indicated, with slow clinical improvement. After 4 months, epigastric discomfort presented, for which a new upper digestive endoscopy was performed, revealing a deep gastric ulcer, which was compatible with diffuse large B-cell non-Hodgkin lymphoma. CONCLUSION: Esophageal actinomycosis in people living with HIV is very rare. We suggest HIV-associated immunosuppression is not enough to allow for actinomycosis to develop, and masked underlying entities should be sought. The existence of such entities in people living with HIV should raise awareness of the possibility of unmasked immune reconstitution inflammatory syndrome once treatment has started.
Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Actinomicosis , Infecciones por VIH , Síndrome Inflamatorio de Reconstitución Inmune , Linfoma no Hodgkin , Humanos , Masculino , Persona de Mediana Edad , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , VIH , Síndrome Inflamatorio de Reconstitución Inmune/complicaciones , Actinomicosis/diagnóstico , Actinomicosis/tratamiento farmacológico , Síndrome de Inmunodeficiencia Adquirida/complicaciones , Linfoma no Hodgkin/complicaciones , Linfoma no Hodgkin/tratamiento farmacológicoRESUMEN
The existence of a cystic mass which walls originated from a metastatic gallbladder adenocarcinoma is infrequent. We present the case of 68-year-old male that present to the emergency department with abdominal distention, hyporexia and jaundice. Upon exploratory laparotomy, a duodeno-colonic cyst with walls formed by metastatic cells derived from a Gallbladder Adenocarcinoma. Metastatic disease from a gallbladder adenocarcinoma to transverse colon and duodenum formed adherences between both organs, leading to the formation of cystic mass. Cancer cells have multiple adaptation mechanisms in order to survive harsh environments.
La existencia de un quiste cuyas paredes se originaron de una metástasis de adenocarcinoma de vesícula biliar es infrecuente. Varón de 68 años con distensión abdominal, hiporexia e ictericia. En la laparotomía exploratoria se evidencia un quiste duodeno-colónico de paredes conformadas por células metastásicas producto de un adenocarcinoma de vesícula biliar. La metástasis del adenocarcinoma de vesícula biliar hacia colon transverso y duodeno formaron adherencias entre ambos órganos, conduciendo a la formación de una masa quística. Las células cancerígenas pueden adaptarse de muchas maneras para sobrevivir en entornos adversos.
Asunto(s)
Adenocarcinoma , Neoplasias de la Vesícula Biliar , Adenocarcinoma/secundario , Adenocarcinoma/cirugía , Anciano , Duodeno/cirugía , Humanos , MasculinoRESUMEN
This study analyzed the types of lexical relations produced by Spanish-speaking older adults with typical aging. A total of 120 older adults completed a word association norms task with 117 stimulus words, which allowed us to explore differences in associations by sex, age, and years of education. We employed two classifications to code the lexical relations: a traditional classification (paradigmatic versus syntagmatic) and a second classification categorizing responses into 17 types of associations (e.g., categorial versus non-categorial). Our results show that participants have a preference for paradigmatic responses (e.g., dog-animal), as well as associations with thematic-contextual co-occurrence plus semantic relations (e.g., cradle-baby). These findings suggest that older adults tend to establish lexical relations based on a combined link, one that is semantic and contextual.
Asunto(s)
Envejecimiento/fisiología , Asociación , Psicolingüística , Anciano , Femenino , Humanos , Masculino , SemánticaRESUMEN
El climaterio es un proceso dinámico y complejo, mediado por el contexto en donde viven las mujeres. El objetivo de este estudio exploratorio, observacional y descriptivo, fue evaluar los síntomas somáticos, su relación con las manifestaciones depresivas, mediante la Menopuase Rating Scale (MRS) y la escala de Zung. Los principales síntomas son: sofocos, insomnio y dolores articulares. Se constató que tales síntomas se intensifican en presencia de manifestaciones depresivas, afectando la salud y la calidad de vida.
Climacteric is a dynamic and complex process, mediated by the context in which women live. The aim of the study descriptive, exploratory and observational was to assess somatic symptoms and their relationship with depressive manifestations through Menopause Rating Scale (MRS) and the Zung scale. The Study shows that symptoms: hot flashes, insomnia and joint pains are intensified in the presence of depressive manifestations affecting the health and quality of life.
O climatério é um processo dinâmico e complexo, mediado pelo contexto em que as mulheres vivem. O objetivo deste estudo exploratório, observacional e descritivo foi avaliar os sintomas somáticos, sua relação com as manifestações depressivas, através da Menopuase Rating Scale (MRS) e da escala de Zung. Os principais sintomas são: afrontamentos, insônia e dores articulares. Constatou-se que esses sintomas se intensificam na presença de manifestações depressivas, afetando a saúde e a qualidade de vida.
Asunto(s)
Humanos , Femenino , Adulto , Persona de Mediana Edad , Conducta , Climaterio , Síntomas sin Explicación Médica , Depresión , Trastornos del Inicio y del Mantenimiento del SueñoRESUMEN
Se presentó caso clínico sobre el injerto gingival libre con capuchón pericoronario en paciente femenina de 20 años de edad, raza negra, técnico medio de gastronomía, que asistió al servicio de Periodoncia de la Clínica Estomatológica Docente 27 de Noviembre, en el municipio Colón provincia Matanzas La paciente refirió presentar un diente crecido y antecedentes familiares con problemas de salud como: madre cardiópata y con hipertensión arterial. Clínicamente se observó recesión periodontal en el 41, interferencias, sobrecargas y bruxismo. Se realizó injerto gingival libre en dicho diente, se tomó como tejido donante capuchón pericoronario del 48. La técnica quirúrgica resultó ser relativamente sencilla para conseguir el aumento de encía adherida y cubrió exposición radicular. Este proceder quirúrgico demostró ser menos traumático y más estético, en cuanto al color del tejido donante, que cuando se toma el paladar como tejido donante(AU)
We presented a clinical case of free gingival graft with pericoronary follicle in a black female patient aged 20 years, gastronomy technician, who visited the Periodontics service of the Teaching Stomatologic Clinic 27 de Noviembre, in the municipality of Colon, Matanzas province. The patient referred having a grown tooth and family antecedents of medical problems as mother with heart disorders and arterial hypertension. Clinically it was observed periodontal recession in the 41 tooth, interferences, overcharges and bruxism. A free gingival graft of that tooth was carried out, taking as a donor tissue, pericoronary follicle of the 48 tooth. The surgical technique was relatively easy for reaching the increase of adhered gum, and covered the radicular exposition. This surgical procedure showed to be less traumatic and more esthetic, with regard to the color of the donor tissue than when the palate tissue is taken as the donor one(AU)
Asunto(s)
Humanos , Femenino , Adulto Joven , Trasplante de Tejidos/métodos , Encía/trasplante , Odontología , Informes de CasosRESUMEN
Se presentó caso clínico sobre el injerto gingival libre con capuchón pericoronario en paciente femenina de 20 años de edad, raza negra, técnico medio de gastronomía, que asistió al servicio de Periodoncia de la Clínica Estomatológica Docente “27 de Noviembre” en el municipio Colón provincia Matanzas La paciente refirió presentar “un diente crecido” y antecedentes familiares con problemas de salud como: madre cardiópata y con hipertensión arterial. Clínicamente se observó recesión periodontal en el 41, interferencias, sobrecargas y bruxismo. Se realizó injerto gingival libre en dicho diente, se tomó como tejido donante capuchón pericoronario del 48. La técnica quirúrgica resultó ser relativamente sencilla para conseguir el aumento de encía adherida y cubrió exposición radicular. Este proceder quirúrgico demostró ser menos traumático y más estético, en cuanto al color del tejido donante, que cuando se toma el paladar como tejido donante.
We presented a clinical case of free gingival graft with pericoronary follicle in a black female patient aged 20 years, gastronomy technician, who visited the Periodontics service of the Teaching Stomatologic Clinic “27 de Noviembre”, in the municipality of Colon, Matanzas province. The patient referred having “a grown tooth” and family antecedents of medical problems as mother with heart disorders and arterial hypertension. Clinically it was observed periodontal recession in the 41 tooth, interferences, overcharges and bruxism. A free gingival graft of that tooth was carried out, taking as a donor tissue, pericoronary follicle of the 48 tooth. The surgical technique was relatively easy for reaching the increase of adhered gum, and covered the radicular exposition. This surgical procedure showed to be less traumatic and more esthetic, with regard to the color of the donor tissue than when the palate tissue is taken as the donor one.
RESUMEN
Spectral shifts of rhodopsin, which are related to variations of the electron distribution in 11-cis-retinal, are investigated here using the method of deformed atoms in molecules. We found that systems carrying the M207R and S186W mutations display large perturbations of the π-conjugated system with respect to wild-type rhodopsins. These changes agree with the predicted behavior of the bond length alternation (BLA) and the blue shifts of vertical excitation energies of these systems. The effect of the planarity of the central and Schiff-base regions of retinal chain on the electronic structure of the chromophore is also investigated. By establishing nonlinear polynomial relations between BLA, chain distortions, and vertical excitation energies, we are also able to provide a semiquantitative approach for the understanding of the mechanisms regulating spectral shifts in rhodopsin and its mutants.
Asunto(s)
Electrones , Retinaldehído/química , Rodopsina/química , Animales , Bovinos , Humanos , Modelos Moleculares , Simulación de Dinámica Molecular , Mutación , Rodopsina/genética , Electricidad EstáticaRESUMEN
Retinitis pigmentosa (RP) is a pathological condition associated with blindness due to progressive retinal degeneration. RP-linked mutations lead to changes at the retinal binding pocket and in the absorption spectra. Here, we evaluate the geometries, electronic effects, and vertical excitation energies in the dark state of mutated human rhodopsins carrying the abnormal substitutions M207R or S186W at the retinal binding pocket. Two models are used, the solvated protein and the protein in a solvated POPC lipid bilayer. We apply homology modeling, classical molecular dynamics simulations, density functional theory (DFT), and quantum mechanical/molecular mechanical (QM/MM) methods. Our results for the wild type bovine and human rhodopsins, used as a reference, are in good agreement with experiment. For the mutants, we find less twisted QM/MM ground-state chromophore geometries around the C(11)-C(12) double bond and substantial blue shifts in the lowest vertical DFT excitation energies. An analysis of the QM energies shows that the chromophore-counterion region is less stable in the mutants compared to the wild type, consistent with recent protein folding studies. The influence of the mutations near the chromophore is discussed in detail to gain more insight into the properties of these mutants. The spectral tuning is mainly associated with counterion effects and structural features of the retinal chain in the case of the hM207R mutant, and with the presence of a neutral chromophore with deprotonated Lys296 in the case of the hS186W mutant.
Asunto(s)
Simulación de Dinámica Molecular , Mutación , Retinitis Pigmentosa/genética , Rodopsina/química , Rodopsina/genética , Animales , Sitios de Unión , Bovinos , Cristalografía por Rayos X , Humanos , Membrana Dobles de Lípidos/química , Modelos Moleculares , Datos de Secuencia Molecular , Estructura Molecular , Conformación Proteica , Teoría Cuántica , Retinaldehído/química , Retinaldehído/metabolismo , Rodopsina/metabolismoRESUMEN
Introducción:La colitis ulcerativa (CU), es un trastorno inflamatorio difuso que afecta el recto y se extiende en dirección proximal y continua. Objetivo:Identificar los factores predictivos de laCUen pacientes pediátricos y describir el grado de actividad clínica, endoscópica e histológica, y las manifestaciones extraintestinales más frecuentes. Materiales y métodos:Estudio de casos y controles. La muestra quedó constituida por 66 pacientes, menores de 19 años, 22 casos con diagnóstico de CU y 44 controles de igual sexo y edad. Se diseñó y aplicó un cuestionario para recoger información acerca de los posibles factores predictivos asociados a la CU y se aplicó análisis de regresión logística multivariada. Conclusiones:Los factores predict ivos de la CU y las manifestaciones extraintestinales encontradas en el estudio son consistentes con lo reportado en la literatura.
Objective:To identify the predictive factors of Ulcerative Colitis (UC) in children, and to describe the clinical, endoscopical and histological activity index, and the extraintestinal manifestations founded in this patients. Methods:Casecontrol study. Cases were UC patients aged 0 19 years (22) and 44 healthy age and sex- matched, we designed and applied a questionnaire to collect the information about the possible predictive factors associated to the UC and we also applied a multi-variance logistic regression analysis.Conclusions: The predictive factors of the UC and the extraintestinal manifestations founded in this study were similar with the reported in the literature.
Asunto(s)
Humanos , Masculino , Adolescente , Femenino , Recién Nacido , Lactante , Preescolar , Niño , Adulto Joven , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/diagnóstico , Colitis Ulcerosa/etiología , Colon/anomalías , Colon/lesiones , ColonRESUMEN
Se realizó un estudio orientado a la aplicación de Educación para la Salud como prevención de enfermedades periodontales en pacientes diabéticos. La muestra quedó conformada por 20 individuos mediante los criterios de inclusión y exclusión y se realizó el trabajo en la Clínica 27 de Noviembre, de Colón, en el período comprendido de enero a diciembre del 2008. Las variables se obtienen de una historia clínica confeccionada en el Departamento de Periodoncia, modelo de Índice de Análisis de Higiene y encuestas de conocimiento sobre salud bucodental. Los resultados fueron los siguientes: predominó el grupo etáreo de 40 a 64 años y el sexo femenino. La gran mayoría mostró interés en la prevención y los beneficios fueron evidentes: se elevó el nivel de conocimientos de los pacientes diabéticos y mejoraron su higiene bucal que se traduce en aumento de calidad de vida, con un mejor control metabólico. Recomendamos continuar aplicando técnicas educativas y labor preventiva en general en este sector priorizado de la población que redunde en mayor salud y bienestar(AU)
We conducted a study directed to applying Education for Health as prevention of periodontal diseases in diabetic patients. The sample was formed by 20 persons using the including and excluding criteria and the study took place at the clinic 27 de Noviembre of Colon in the period from January to December 2008. The variables were obtained from the clinical record elaborated at the Department of Periodontics, form Index of Hygiene Analysis and Surveys on Orodental Health. The results were: predominance of the age group from 40 to 64 years-old and female sex. Most of the patients showed interest in prevention and the benefits were evident: the knowledge level of the diabetic patients raised and their oral health improved, reflected in an increase of their life quality, with a better metabolic control. We recommend continuing applying educative techniques and general preventive work that lead to better health and well-being in this sector of the population(AU)
Asunto(s)
Humanos , Adulto , Enfermedades Periodontales/prevención & control , Diabetes Mellitus , Educación del Paciente como Asunto , Higiene Bucal/educación , Calidad de Vida , Epidemiología Descriptiva , Estudios ProspectivosRESUMEN
Se realizó un estudio orientado a la aplicación de Educación para la Salud como prevención de enfermedades periodontales en pacientes diabéticos. La muestra quedó conformada por 20 individuos mediante los criterios de inclusión y exclusión y se realizó el trabajo en la Clínica 27 de Noviembre, de Colón, en el período comprendido de enero a diciembre del 2008. Las variables se obtienen de una historia clínica confeccionada en el Departamento de Periodoncia, modelo de Índice de Análisis de Higiene y encuestas de conocimiento sobre salud bucodental. Los resultados fueron los siguientes: predominó el grupo etáreo de 40 a 64 años y el sexo femenino. La gran mayoría mostró interés en la prevención y los beneficios fueron evidentes: se elevó el nivel de conocimientos de los pacientes diabéticos y mejoraron su higiene bucal que se traduce en aumento de calidad de vida, con un mejor control metabólico. Recomendamos continuar aplicando técnicas educativas y labor preventiva en general en este sector priorizado de la población que redunde en mayor salud y bienestar.
We conducted a study directed to applying Education for Health as prevention of periodontal diseases in diabetic patients. The sample was formed by 20 persons using the including and excluding criteria and the study took place at the clinic 27 de Noviembre of Colon in the period from January to December 2008. The variables were obtained from the clinical record elaborated at the Department of Periodontics, form Index of Hygiene Analysis and Surveys on Orodental Health. The results were: predominance of the age group from 40 to 64 years-old and female sex. Most of the patients showed interest in prevention and the benefits were evident: the knowledge level of the diabetic patients raised and their oral health improved, reflected in an increase of their life quality, with a better metabolic control. We recommend continuing applying educative techniques and general preventive work that lead to better health and well-being in this sector of the population.
Asunto(s)
Humanos , Adulto , Calidad de Vida , Diabetes Mellitus , Educación del Paciente como Asunto , Enfermedades Periodontales/prevención & control , Higiene Bucal/educación , Epidemiología Descriptiva , Estudios ProspectivosRESUMEN
The human trichinosis is a cosmopolitan rare zoonosis in Mexico. It presents clinically, with an infectious toxic pattern. Typical symptomatology includes: fever, diarrhea, facial edema and myalgias, which can resemble other illnesses like typhoid fever, angioneurotic edema, septicemia, rheumatic disease-like vasculitis and dermato-polymyositis. The treatment is based on the use of antiparasites. In this paper a trichinosis case is described in a woman, 29 years old who lives in the metropolitan area, with a clinical pattern that suggest polymyositis. The diagnosis was confirmed through a muscle biopsy. The treatment was albendazole and prednisone with successful results.
Asunto(s)
Polimiositis/diagnóstico , Triquinelosis/diagnóstico , Adulto , Diagnóstico Diferencial , Femenino , HumanosRESUMEN
The geometries and binding energies of 1:1, 1:2, and 1:4 formic acid-formamide complexes (FA-FMA) are calculated by quantum chemical procedures. Vibrational spectra and intermolecular distances of the most stable FA-FMA dimers as well as the influence of the basis set superposition error (BSSE) on the geometries and energies of the dimers are also discussed. All FA-FMA dimers are optimized at the B3LYP/cc-pVTZ, the MP2/cc-pVDZ, aug-cc-pVDZ, cc-pVTZ, and aug-cc-pVTZ levels of theory to study the influence of the level of theory on the calculated geometries and energies. CCSD(T)/cc-pVTZ single-point calculations at the MP2/aug-cc-pVTZ-optimized geometries were performed as reference for estimating the quality of lower level calculations. These calculations allow us to qualitatively describe the competition between different types of hydrogen-bonding interactions in FA-FMA complexes. FA-FMA dimers are compared to other formamide complexes and to the FA-FMA crystal structure.
RESUMEN
A series of five cases with Wegener's granulomatosis (WG) is presented: two women and three men with an average age of 37 years old, with an average time of evolution of the disease of 5 years and systemic clinical presentation (respiratory, renal and ocular affection); the ANCA were positive; three of them were carriers of Staphylococcus aureus. All the patients received combined therapy composed by trimethoprim-sulfamethoxazole-cyclophosphamide (TMS-CFM) during approximately 29 months of follow- up, except for a pregnant patient. The patients showed a satisfactory clinical evolution with improvement of the manifestations of the disease. We suggest that, due to its benefits, the combination of TMS-CFM can be useful as a therapeutic alternative in WG.
Asunto(s)
Antiinfecciosos/uso terapéutico , Portador Sano , Ciclofosfamida/uso terapéutico , Granulomatosis con Poliangitis/complicaciones , Granulomatosis con Poliangitis/tratamiento farmacológico , Inmunosupresores/uso terapéutico , Infecciones Estafilocócicas/complicaciones , Infecciones Estafilocócicas/tratamiento farmacológico , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico , Adulto , Quimioterapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Maffucci syndrome is a rare, congenital disease, which is associated with the appearance of multiple enchondromas (possibility of malignant transformation in 20 to 100%), soft tissue hemangiomas and other mesenchymatous injuries. Case 1 is a 33-year-old female who presented with multiple nodules predominantly in upper extremities. Upon examination, there was deformity in articulation and nodules on the hands, which were soft and moveable. There were bony shavings in the second and fourth fingers of the left hand (enchondromas and atypical cells associated with hemangioma esclerosante). Maffucci syndrome was diagnosed. Later, excision of subcutaneous nodules in superior extremities was performed along with excision of nodules in both hands and hypochondrium (enchondroma injuries of left hand and hypochondrium, hemangioma in right hand). There was dysarticulation of the second finger at the metacarpal level of the phalanges of the left hand (chondrosarcoma). The patient is being followed up currently. Case 2 is a 26-year-old female. The patient had a history of subcutaneous abdominal tumor, exostosis, nodules and nodule in right breast. Upon examination, a tumor was found in the right breast, exostosis of right tibia, injury to the right wrist and left thyroid nodule. A simple mastectomy and axillary dissection was performed (fibroadenoma to intracanalicular and 14 negative lymph nodes). Later, left thyroidectomy and lumpectomy in right wrist were performed (hyperplasia to nodular thyroid and hemangioma cavernous). There was injury in the carpus of the right hand and elbow (hemangioma cavernous and synovial tissue with fibrosis and enchondroma). A diagnosis was made of Marffucci syndrome associated with mesenchymatous tumors. The patient was in poor general health and did not survive this hospitalization.
Asunto(s)
Encondromatosis , Adulto , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/etiología , Condrosarcoma/diagnóstico por imagen , Condrosarcoma/etiología , Encondromatosis/complicaciones , Encondromatosis/diagnóstico , Encondromatosis/diagnóstico por imagen , Encondromatosis/mortalidad , Femenino , Humanos , Pronóstico , Tomografía Computarizada por Rayos XRESUMEN
The MOTRICO project plans the development of an advanced environment that will offer computer assistance for cardiac therapy and diagnosis, which would be useful in the hemodynamics units of those hospitals that have access to the instrumental techniques of Angiography and intravascular Ultrasounds. The initial work presented in this paper will describe modeling and finite element mesh generation of an idealized model of the human left coronary artery bifurcation. The computational geometric model has been developed on the basis of real anatomical information.
Asunto(s)
Ingeniería Biomédica , Simulación por Computador , Vasos Coronarios/anatomía & histología , Análisis de Elementos Finitos , Modelos Anatómicos , Modelos Cardiovasculares , Mallas Quirúrgicas , Prótesis Vascular , Diagnóstico por Computador , Humanos , Procesamiento de Imagen Asistido por Computador , Validación de Programas de ComputaciónRESUMEN
El proyecto MOTRICO consiste en la construcción y validación de un sistema informático, que permite a un equipo médico, modelar de manera realista la anatomía de partes del sistema vascular humano y simular el flujo de la sangre para obtener magnitudes biofísicas. En este escrito se presenta el trabajo inicial realizado para obtener un modelo sintético, basado en datos anatómicos reales, de parte del árbol coronario izquierdo, en concreto, de su bifurcación principal. También se describen las técnicas empleadas en la construcción del modelo geométrico así como las mallas generadas para realizar las simulaciones mediante el método de los elementos finitos.
Asunto(s)
Humanos , Ingeniería Biomédica , Simulación por Computador , Vasos Coronarios , Análisis de Elementos Finitos , Modelos Anatómicos , Modelos Cardiovasculares , Procesamiento de Imagen Asistido por Computador , Validación de Programas de Computación , Diagnóstico por ComputadorRESUMEN
BACKGROUND AND AIMS: Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterized by multiple adenomatous polyps in the colon and rectum that inevitably develop into adenocarcinomas if the patient's colon is not removed in time. To date more than 500 mutations related to the disease have been identified in the APC (adenomatous polyposis coli) gene. The molecular study of FAP families was initially introduced in Cuba with the aim of identifying the asymptomatic carriers of APC gene mutations in each family. PATIENTS AND METHODS: We studied 23 individuals from 17 Cuban families who had been diagnosed clinically with FAP. Peripheral DNA was extracted from the index case of each family. Exon 15 of the APC gene was screened for germinal mutations using PCR and DNA heteroduplex. RESULTS: Three different germinal mutations were identified in the mutational clustering region of APC gene by sequencing analysis in five FAP unrelated families. Three families carry the most frequent mutation in APC in codon 1309, while the other two families carry mutations in codons 1061 and 1192, respectively. Two asymptomatic carriers of one family were detected, and later the disease was confirmed by colonoscopy in a very early stage while six members at risk were found to be negative. CONCLUSION: For the first time in Cuba molecular diagnosis of FAP was performed and the development of colorectal cancer prevented in asymptomatic carriers.
Asunto(s)
Poliposis Adenomatosa del Colon/diagnóstico , Técnicas de Diagnóstico Molecular , Poliposis Adenomatosa del Colon/epidemiología , Poliposis Adenomatosa del Colon/genética , Adulto , Anciano , Biomarcadores de Tumor/genética , Colonoscopía , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/genética , Cuba/epidemiología , Salud de la Familia , Femenino , Genes APC , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Fenotipo , Mutación Puntual/genética , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
Interferon alfa (IFN-alpha) is the only approved treatment for chronic hepatitis B (HBV) infection. In a non-controlled study 33 pediatric patients infected with HBV and in chronic phase of the disease were included and treated with 3 to 5 x 10(6) IU/m2 body surface of Interferon alpha 2b, 3 times per week, during 4 months. The objective was to evaluate the efficacy of the treatment in terms of the histological, biochemical and viral markers evolution of the patients. The patients were evaluated carrying out determinations of alanine aminotransferase (ALAT), HBsAg and HBeAg before treatment, at the end of the treatment and every 4 months during one year of follow-up. Liver biopsy and Knodell index determination were carried out at the beginning and upon concluding the follow-up. 39.3% of the patients concluded the treatment with normal ALAT values; 7% became HBsAg negative and 14.3% became HBsAg negative. These values ascended after follow-up to 51.5%, 11% and 37.5% respectively. The histological analysis evidenced a decrease of the Knodell index in 69% of the patients, an increase in 14.2%, and 13.8% did not show variation. Correlating the biochemical and histological responses, a favorable outcome was obtained in 36.4% of the patients, evidencing a remarkable reduction of the hepatic cytolysis. The treatment was well tolerated, being the fever the most frequent adverse events. The results confirm that interferon alfa seems to be an effective treatment for children with chronic hepatitis B.
Asunto(s)
Antivirales/uso terapéutico , Hepatitis B Crónica/tratamiento farmacológico , Interferón-alfa/uso terapéutico , Alanina Transaminasa/sangre , Niño , Femenino , Estudios de Seguimiento , Antígenos de Superficie de la Hepatitis B/sangre , Antígenos e de la Hepatitis B/sangre , Hepatitis B Crónica/patología , Humanos , Interferón alfa-2 , Masculino , Proteínas Recombinantes , Estadísticas no Paramétricas , Resultado del TratamientoRESUMEN
Interferon alfa (IFN-alpha) is the only approved treatment for chronic hepatitis B (HBV) infection. In a non-controlled study 33 pediatric patients infected with HBV and in chronic phase of the disease were included and treated with 3 to 5 x 10(6) IU/m2 body surface of Interferon alpha 2b, 3 times per week, during 4 months. The objective was to evaluate the efficacy of the treatment in terms of the histological, biochemical and viral markers evolution of the patients. The patients were evaluated carrying out determinations of alanine aminotransferase (ALAT), HBsAg and HBeAg before treatment, at the end of the treatment and every 4 months during one year of follow-up. Liver biopsy and Knodell index determination were carried out at the beginning and upon concluding the follow-up. 39.3% of the patients concluded the treatment with normal ALAT values; 7% became HBsAg negative and 14.3% became HBsAg negative. These values ascended after follow-up to 51.5%, 11% and 37.5% respectively. The histological analysis evidenced a decrease of the Knodell index in 69% of the patients, an increase in 14.2%, and 13.8% did not show variation. Correlating the biochemical and histological responses, a favorable outcome was obtained in 36.4% of the patients, evidencing a remarkable reduction of the hepatic cytolysis. The treatment was well tolerated, being the fever the most frequent adverse events. The results confirm that interferon alfa seems to be an effective treatment for children with chronic hepatitis B (AU)