RESUMEN
The purpose of this perspective is to analyze the use of precision medicine and its potential for the next few decades with a special focus on the low- and middle-income countries, using diabetes as a paradigm. Precision medicine has improved the diagnosis, prevention, treatment, and prognosis of several malignant neoplasia. Furthermore, this approach is useful in the management of monogenic diabetes. However, its impact in the current practice for the majority of the cases of diabetes is quite limited. Precision medicine has not fulfilled the expectations because it implies a long-term process composed by several feedback loops, and a number of internal and external validations and calibrations to target specific populations. If we want to obtain the expected benefits, the academic community and science agencies should work together to create the budgets and infrastructure that warrant the transfer of knowledge to the whole of society.
Asunto(s)
Países en Desarrollo , Enfermedades Metabólicas , Medicina de Precisión , Diabetes Mellitus , HumanosRESUMEN
Hypertension is associated with insulin resistance (IR), metabolic syndrome (MS), and arterial stiffness. Non-insulin-based IR indexes were developed as tools for metabolic screening. Here, we aimed to evaluate the novel non-insulin-based Metabolic Score for IR (METS-IR) index for the prediction of incident hypertension and arterial stiffness evaluated using pulse wave velocity (PWV) analysis, compared with other non-insulin-based IR indexes. We evaluated two populations, a cross-sectional evaluation of high-risk individuals (n = 305) with a wide range of metabolic comorbidities and dyslipidemia in whom PWV measurement was performed and a 3-year prospective cohort of normotensive individuals (N = 6850). We observed a positive correlation between METS-IR and PWV in the cross-sectional cohort, which was higher compared with other non-insulin-based fasting IR indexes; furthermore, PWV values >75th percentile were associated with the upper tercile of METS-IR values. In the prospective cohort, we observed an increased risk for incident hypertension for the upper METS-IR tercile (METS-IR ≥ 46.42; HR: 1.81, 95% CI: 1.41-2.34), adjusted for known cardiovascular risk factors, and observed that METS-IR had greater increases in the predictive capacity for hypertension along with SBP and the Framingham Hypertension Risk Prediction Model compared with other non-insulin-based IR indexes. Therefore, METS-IR is a novel non-insulin-based IR index which correlates with arterial stiffness and is a predictor of incident hypertension, complementary to previously validated risk prediction models.
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Hipertensión/fisiopatología , Resistencia a la Insulina/fisiología , Síndrome Metabólico/fisiopatología , Rigidez Vascular/fisiología , Adulto , Presión Sanguínea/fisiología , Índice de Masa Corporal , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Estudios de Casos y Controles , Comorbilidad , Estudios Transversales , Dislipidemias/complicaciones , Dislipidemias/diagnóstico , Ayuno/metabolismo , Femenino , Humanos , Hipertensión/epidemiología , Incidencia , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Análisis de la Onda del Pulso/métodos , Factores de RiesgoRESUMEN
AIM: To identify gene mutations in PRSS1 and SPINK1 in individuals with early onset idiopathic chronic or recurrent acute pancreatitis. METHODS: The cationic trypsinogen gene (PRSS1; exons 2 and 3) and the serine protease inhibitor Kazal 1 gene (SPINK1; exon 3) were selectively amplified and sequenced from blood samples of 19 patients admitted to the Pancreas Clinic at our institution with chronic pancreatitis and/or idiopathic recurrent acute pancreatitis that were diagnosed or with onset before age 35. Fifty healthy volunteers served as controls. Whole blood samples were collected and gene specific sequences were amplified by polymerase chain reaction (PCR). All PCR products were subsequently sequenced in order to identify the presence of any mutations. RESULTS: Nineteen patients with pancreatitis (14 males; median age 24 years, range 15-48 years) were included in this study, of which five showed the presence of gene mutations. Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1 (V39E and N42S) in two patients with recurrent acute pancreatitis. Two cases had the N34S SPINK1 mutation. Analysis of the relatives of one patient homozygous for this mutation showed that five of the six family members carried the N34S SPINK1 mutation. Of these members, three were healthy heterozygous carriers and two were homozygotes (one sibling had diabetes, the other was healthy). Another patient was heterozygous for a novel SPINK1 mutation located on exon 3 (V46D). All members from this patient's family had normal genotypes, indicating that it was a de novo mutation. No mutations in either gene were present in the control subjects. CONCLUSION: Two novel PRSS1 mutations and one novel SPINK1 mutation were identified in Mexican patients with early onset idiopathic recurrent acute pancreatitis.
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Proteínas Portadoras/genética , Mutación , Pancreatitis Crónica/genética , Pancreatitis/genética , Tripsina/genética , Enfermedad Aguda , Adolescente , Adulto , Edad de Inicio , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Heterocigoto , Homocigoto , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Pancreatitis/diagnóstico , Pancreatitis/enzimología , Pancreatitis/epidemiología , Pancreatitis Crónica/diagnóstico , Pancreatitis Crónica/enzimología , Pancreatitis Crónica/epidemiología , Fenotipo , Estudios Prospectivos , Recurrencia , Estudios Retrospectivos , Inhibidor de Tripsina Pancreática de Kazal , Adulto JovenRESUMEN
Se realizó trabajo de investigación cuyo objetivo fue determinar y comparar la incidencia de estenosis en anastomosis colónicas y rectales realizadas de forma manual y con autosuturadora. Estudio descriptivo, prospectivo y transeccional de pacientes admitidos de emergencia o electiva en los servicios de Cirugía del Hospital Miguel Pérez Carreño entre Diciembre 2001 y Marzo 2003. Fueron sometidos a colonoscopia a los tres y seis meses postoperatorios. Se incluyen treinta pacientes; 56,7 por ciento anastomosis a mano y 43,3 por ciento mecánicas, trece casos (43,3 por ciento) de estenosis diagnosticadas los primeros cuatro meses. Solo 20 por ciento permaneció estenótico para el segundo período ameritando una sesión más de dilataciones. Las anastomosis mecánicas tienen mayor tendencia a presentar estenosis. La técnica de dilatación con balón se realiza de forma exitosa para el tratamiento de las estenosis
Asunto(s)
Masculino , Humanos , Femenino , Complicaciones Posoperatorias , Anastomosis Quirúrgica , Cirugía Colorrectal , Constricción Patológica/cirugía , Venezuela , Cirugía GeneralRESUMEN
Se presenta el caso de una paciente femenina de 85 años con diagnóstico previo de pseudoquiste pancreático en estudio por el servicio de Gastroenterología durante un año y medio, quien sufrió traumatismo abdominal cerrado motivo por el cual ingresó de emergencia y se realizó laparotomía exploradora, donde se evidenció ruptura del pseudoquiste pancreático. Se realizó cistoyeyunoanastomosis en Y y de Roux y toma de biopsia en la pared del pseudoquiste cuyo resultado histológico reportó: Neurilemoma Pancreático. Evolucionó tórpidamente por lo que se realizó drenaje transgástrico endoscópico con colocación de dos prótesis, las cuales se obstruyeron a las dos semanas. Es intervenida para exéresis del tumor; pero debido a las múltiples adherencias se decidió practiar cistogastroanastomosis. El diagnóstico definitivo de estas lesiones es pr evaluación inmunohistoquímica. Se reconoce como el tratamiento adecuado a la resección completa del mismo y en presencia de una alta tasa de morbi-mortalidad según el caso by-pass de la lesión.