GIST gástrico complicado. Una forma de presentación inusual / Complicated gastric GIST. An unusual presentation

RESUMEN Los tumores GIST son un motivo de consulta cada vez más frecuente en las entrevistas de cirugía gastroenterológica. Suelen ser derivados como hallazgos incidentales o por presentar síntomas derivados de su crecimiento. Se presenta el caso clínico de una paciente que requirió internación de urgencia por síndrome anémico agudo. Se comenta su algoritmo diagnóstico y su resolución quirúrgica. Asimismo se comentan los estándares de diagnóstico y tratamiento actuales con especial foco en la estrategia quirúrgica, la cual debe ser individualizada según cada caso.

ABSTRACT Gastrointestinal stromal tumors (GISTs) are becoming an increasingly common reason for consultation in gastroenterology surgery interviews. Patients are usually referred for surgery due to an incidental finding or symptoms associated with tumor growth. We report the case of a female patient who required urgent hospitalization due to acute anemic syndrome. The diagnostic algorithm and surgical approach are described. The current standards of diagnosis and treatment are also discussed, with special focus on the surgical strategy, which must be tailored to each case.

Use of the Demirjian method to estimate dental age in panoramic radiographs of patients treated at the Buenos Aires University School of Dentistry / Utilización del Método de Demirjian para estimación de la edad dental en radiografías panorámicas de pacientes atendidos en la Facultad de Odontología de la Universidad de Buenos Aires

ABSTRACT The aim of this study was to determine the difference between real age (RA) and dental age (DA) in boys and girls from the Autonomous City of Buenos Aires (C.A.B.A.) by analyzing digital panoramic radiographs from the database of the Imaging Department at the Buenos Aires University School of Dentistry, using the Demirjian Method (DM). The sample consisted of 508 panoramic radiographs of 6- to 14-year old Argentines (268 female and 240 male). The Demirjian method was used to estimate dental age from each panoramic radiograph, and the Wilcoxon test was applied to perform a comparative analysis with the real age recorded in the image database. Average RA was 9.36 years (SD 2.11), and average DA according to the Demirjian method was 10.45 years (SD 2.31). For females, RA was 9.25 (SD 2.12), and DA according to the DM was 10.40 years (SD 2.41). For males, RA was 9.46 (SD 2.10), and DA according to the DM was 10.50 years (SD 2.22). An inter-class correlation coefficient (ICC) calculated as a correlation measure between dental age and real age was ICC = 1.09%. The ICC was 1.04% for the males and 1.15% for females. Significant differences were found between DA and RA (p <0.01) in general and according to sex. Real age was found to be lower than dental age in the study population from Buenos Aires City.

RESUMEN El objetivo del presente trabajo fue determinar la diferencia entre la edad real (ER) y la edad dental (ED) en niños y niñas de la Ciudad de Buenos Aires analizando radiografías panorámicas digitales de la base de datos de la Cátedra de Diagnóstico por imágenes FOUBA, utilizando el Método Demirjian (MD). La muestra consistió en 508 radiografías panorámicas (268 del sexo femenino y 240 del sexo masculino) en una población argentina de 6 a 14 años de edad. Se realizó el cálculo de la edad dental en cada una de ellas, conforme el método de Demirjian. Se efectuó un análisis comparativo con la ER proveniente de la base de datos, utilizando la prueba de Wilcoxon. En las 508 panorámicas se estimó la ED. Se pudo establecer que la ER en promedio es 9.36 años con un desviación estándar (DS) de 2,11 y que la edad según el método de Demirjian es 10,45 años con una DS de 2,31. Para el sexo femenino se obtuvo una ER de 9,25 y una DS de 2,12 y según MD es de 10,40 años con una DS de 2,41. Para el sexo masculino se obtuvo una ER de 9,46 y una DS de 2,10 y según MD es de 10,50 años con una DS de 2,22. Se obtuvo un coeficiente de correlación inter-clase (CCI), como medida de correlación entre edad dental y real, de (CCI 1,09%). El CCI para el sexo masculino fue de (CCI 1,04 %) y en el caso del sexo femenino fue de (CCI 1,15%). Se hallaron diferencias significativas entre ED y ER (p<0,01) en general y también para ambos sexos. Se pudo evidenciar que la edad real es menor que la edad dental en la población de la Ciudad de Buenos Aires.

Método de filtrado de CO2 para cirugía laparoscópica en tiempos de pandemia de COVID-19 / Carbon dioxide filtering system for laparoscopic surgery in times of COVID-19 pandemic

RESUMEN Antecedentes: la pandemia de COVID-19 presentó nuevos desafíos en el manejo de la patología quirúrgica laparoscópica. Objetivos: presentar el sistema de filtrado de bajo costo utilizado para la laparoscopia durante la pandemia en nuestro Servicio de Cirugía. Material y métodos: se realizó búsqueda bibliográfica y se diseñó un protocolo y sistema de filtrado para evacuar el CO2 contenido en el neumoperitoneo para evitar el contagio por el virus SARS-CoV-2. Resultados: se pone en práctica el empleo de un sistema de filtrado del neumoperitoneo en época de pandemia, el cual es de bajo costo y armado sencillo con materiales disponibles habitualmente en las áreas quirúrgicas. Conclusiones: la cirugía laparoscópica es factible durante la pandemia de SARS-CoV-2 utilizando un método sencillo y económico de filtrado del neumoperitoneo.

ABSTRACT Background: Background: the COVID-19 pandemic gave rise to new challenges in the management of laparoscopic surgery. Objectives: the aim of this study is to present a low-cost filtering system used for laparoscopic surgery during the pandemic in our Department of Surgery. Material and methods : a bibliographic search was conducted and a protocol and filtering system were designed to evacuate the pneumoperitoneum avoiding contact with the SARS-CoV-2. Results: this low-cost filtering system to evacuate the pneumoperitoneum during the pandemic is easy to assemble using materials that are usually available at the operating room. Conclusions: laparoscopic surgery is feasible during the COVID-19 pandemic using a simple, low-cost carbon dioxide filtering system.

Decompression Surgery versus Interspinous Devices for Lumbar Spinal Stenosis: A Systematic Review of the Literature

In this retrospective review study, the authors systematically reviewed the literature to elucidate the efficacy and complications associated with decompression and interspinous devices (ISDs) used in surgeries for lumbar spinal stenosis (LSS). LSS is a debilitating condition that affects the lumbar spinal cord and spinal nerve roots. However, a comprehensive report on the relative efficacy and complication rate of ISDs as they compare to traditional decompression procedures is currently lacking. The PubMed database was queried to identify clinical studies that exclusively investigated decompression, those that exclusively investigated ISDs, and those that compared decompression with ISDs. Only prospective cohort studies, case series, and randomized controlled trials that evaluated outcomes using the Visual Analog Scale (VAS), Oswestry Disability Index, or Japanese Orthopedic Association scores were included. A random-effects model was established to assess the difference between preoperative and the 1–2-year postoperative VAS scores between ISD surgery and lumbar decompression. This study included 40 papers that matched our criteria. Twenty-five decompression-exclusive clinical trials with 3,386 patients and a mean age of 68.7 years (range, 31–88 years) reported a 2.2% incidence rate of dural tears and a 2.6% incidence rate of postoperative infections. Eight ISD-exclusive clinical trials with 1,496 patients and a mean age of 65.1 (range, 19–89 years) reported a 5.3% incidence rate of postoperative leg pain and a 3.7% incidence rate of spinous process fractures. Seven studies that compared ISDs and decompression in 624 patients found a reoperation rate of 8.3% in ISD patients vs. 3.9% in decompression patients; they also reported dural tears in 0.32% of ISD patients vs. 5.2% in decompression patients. A meta-analysis of the randomized controlled trials found that the differences in preoperative and postoperative VAS scores between the two groups were not significant. Both decompression and ISD interventions are unique surgical interventions with different therapeutic efficacies and complications. The collected studies do not consistently demonstrate superiority of either procedure over the other but understanding the differences between the two techniques can help tailor treatment regimens for patients with LSS.

Carcinoma mucoepidermoide bronquial: a propósito de dos casos clínicos / Bronchopulmonary mucoepidermoid carcinoma: apropos of two clinical cases

Resumen El carcinoma mucoepidermoide bronquial es una neoplasia infrecuente, representando el 0,1 a 0,2% de los tumores malignos primarios del pulmón. En general tiene un buen pronóstico, sin embargo, existe un subtipo de alto grado de pronóstico más ominoso. En este artículo se presentan dos casos clínicos de carcinoma mucoepidermoide bronquial de bajo grado, enfocado en su diagnóstico y manejo quirúrgico.

ABSTRACT Bronchopulmonary mucoepidermoid carcinoma is an uncommon neoplasm, accounting for 0.1 to 0.2% of primary malignant tumors of the lung. In general it has a good prognosis, however there is a subtype of high grade of more ominous prognosis. In this paper we present two clinical cases of low grade pulmonary mucoepidermoid carcinoma, focused on their diagnosis and surgical management.

Dolor torácico y hemotórax como presentación atípica de secuestro pulmonar en adulto / Chest pain and hemothorax: an atypical presentation of a pulmonary sequestration

Resumen El secuestro pulmonar es una malformación pulmonar rara, presentándose generalmente en edades tempranas. Se presenta mayoritariamente con neumonías e infecciones repetidas, distrés respiratorio y falla cardíaca; raramente en pacientes de mayor edad se presenta con hemoptisis y dolor torácico. En este artículo se describe el caso clínico de un paciente de 60 años de edad que se presenta con un infarto de un secuestro pulmonar y hemotórax.

Bronchopulmonary sequestration is a rare pulmonary malformation, usually occurring at an early age. It presents mainly with pneumonia and repetitive infections, respiratory distress and heart failure; rarely in aged patients presents with hemoptysis and chest pain. This article describes the clinical case of a 60-year-old male patient who presented an ischemic pulmonary sequestration and hemothorax.

Disease and treatment-related factors associated with tuberculosis treatment default in Khartoum State, Sudan: a case–control study

Defaulting on tuberculosis [TB] treatment remains a challenge to controlling TB. This case-control study aimed to identify determinants of treatment default among TB patients attending treatment clinics in Khartoum State from May to July 2011. Cases were TB patients who defaulted on treatment and controls were those who completed treatment. Of the 2727 TB patients attending the clinics, 328 [14%] had defaulted. Of these, 185 had resumed treatment before data collection and 143 had not and were eligible as cases. Of the 143, 27 could not be traced and 11 declined to participate. Thus, 105 cases and 210 controls were included and interviewed. The variables significantly associated with treatment default were: rural residence [OR: 2.68; 95% CI: 1.51–4.73], not being on a DOTS programme [OR: 2.53; 95% CI: 1.49–4.30], having side-effects from treatment [OR: 1.94; 95% CI: 1.14–3.29], and having a history of TB [relapse, multidrug-resistant TB or treatment failure] [OR: 5.11; 95% CI: 2.69–9.69]. Attention should be paid to these groups at risk of defaulting to encourage treatment adherence and continuation

The Clinical Correlations between Diabetes, Cigarette Smoking and Obesity on Intervertebral Degenerative Disc Disease of the Lumbar Spine

STUDY DESIGN: Retrospective analysis of a nationwide private insurance database. Chi-square analysis and linear regression models were utilized for outcome measures. PURPOSE: The purpose of this study was to investigate any relationship between lumbar degenerative disc disease, diabetes, obesity and smoking tobacco. OVERVIEW OF LITERATURE: Diabetes, obesity, and smoking tobacco are comorbid conditions known to individually have effect on degenerative disc disease. Most studies have only been on a small populous scale. No study has yet to investigate the combination of these conditions within a large patient cohort nor have they reviewed the combination of these conditions on degenerative disc disease. METHODS: A retrospective analysis of insurance billing codes within the nationwide Humana insurance database was performed, using PearlDiver software (PearlDiver, Inc., Fort Wayne, IN, USA), to identify trends among patients diagnosed with lumbar disc degenerative disease with and without the associated comorbidities of obesity, diabetes, and/or smoking tobacco. Patients billed for a comorbidity diagnosis on the same patient record as the lumbar disc degenerative disease diagnosis were compared over time to patients billed for lumbar disc degenerative disease without a comorbidity. There were no sources of funding for this manuscript and no conflicts of interest. RESULTS: The total number and prevalence of patients (per 10,000) within the database diagnosed with lumbar disc degenerative disease increased by 241.4% and 130.3%, respectively. The subsets of patients within this population who were concurrently diagnosed with either obesity, diabetes, tobacco use, or a combination thereof, was significantly higher than patients diagnosed with lumbar disc degenerative disease alone (p <0.05 for all). The number of patients diagnosed with lumbar disc degenerative disease and smoking rose significantly more than patients diagnosed with lumbar disc degenerative disease and either diabetes or obesity (p <0.05). The number of patients diagnosed with lumbar disc degenerative disease, smoking and obesity rose significantly more than the number of patients diagnosed with lumbar disc degenerative disease and any other comorbidity alone or combination of comorbidities (p <0.05). CONCLUSIONS: Diabetes, obesity and cigarette smoking each are significantly associated with an increased diagnosis of lumbar degenerative disc disease. The combination of smoking and obesity had a synergistic effect on increased rates of lumbar degenerative disc disease. Patient education and preventative care is a vital goal in prevention of degenerative disc disease within the general population.

Bisphosphonate's and Intermittent Parathyroid Hormone's Effect on Human Spinal Fusion: A Systematic Review of the Literature

There has been a conscious effort to address osteoporosis in the aging population. As bisphosphonate and intermittent parathyroid hormone (PTH) therapy become more widely prescribed to treat osteoporosis, it is important to understand their effects on other physiologic processes, particularly the impact on spinal fusion. Despite early animal model studies and more recent clinical studies, the impact of these medications on spinal fusion is not fully understood. Previous animal studies suggest that bisphosphonate therapy resulted in inhibition of fusion mass with impeded maturity and an unknown effect on biomechanical strength. Prior animal studies demonstrate an improved fusion rate and fusion mass microstructure with the use of intermittent PTH. The purpose of this study was to determine if bisphosphonates and intermittent PTH treatment have impact on human spinal fusion. A systematic review of the literature published between 1980 and 2015 was conducted using major electronic databases. Studies reporting outcomes of human subjects undergoing 1, 2, or 3-level spinal fusion while receiving bisphosphonates and/or intermittent PTH treatment were included. The results of relevant human studies were analyzed for consensus on the effects of these medications in regards to spinal fusion. There were nine human studies evaluating the impact of these medications on spinal fusion. Improved fusion rates were noted in patients receiving bisphosphonates compared to control groups, and greater fusion rates in patients receiving PTH compared to control groups. Prior studies involving animal models found an improved fusion rate and fusion mass microstructure with the use of intermittent PTH. No significant complications were demonstrated in any study included in the analysis. Bisphosphonate use in humans may not be a deterrent to spinal fusion. Intermittent parathyroid use has shown early promise to increase fusion mass in both animal and human studies but further studies are needed to support routine use.

Infección relacionada con los dispositivos cardiovasculares / Cardiovascular device-related infections

Resumen Objetivo: Describir las características demográficas y clínicas de los pacientes que presentaron infecciones relacionadas con los dispositivos cardiovasculares electrónicos implantables. Métodos: Se revisaron las historias clínicas de los pacientes que ingresaron por infecciones de los dispositivos cardiovasculares implantables entre enero de 2006 y septiembre de 2015. Se describieron las características relacionadas con el paciente, el procedimiento, el dispositivo y el microorganismo aislado. Resultados: 22 pacientes fueron admitidos por infecciones relacionadas con los dispositivos electrónicos cardiovasculares implantables. El promedio de edad fue 63 años (DE 13,7) y 86% fueron del sexo masculino. La mitad de los pacientes tenían enfermedad renal crónica y solo el 27% diabetes mellitus. Todos los casos tenían al menos 2 electrodos intracardiacos y el 40,91% refirieron el antecedente de recambio del dispositivo. El germen más frecuentemente aislado fue el Staphylococcus epidermidis. La mortalidad fue del 22,73%. Conclusiones: Las infecciones por los dispositivos cardiovasculares son cada vez más frecuentes. Se debe identificar la presencia de infección local o sistémica con o sin compromiso intracardiaco. Los objetivos del tratamiento van dirigidos a la remoción del dispositivo cardiovascular y el tratamiento antibiótico dirigido.

Abstract Motivation: To describe demographic and clinical characteristics of patients who developed infections related to cardiovascular implantable electronic devices. Methods: Medical records of patients who were admitted for infections of cardiovascular implantable devices between January 2006 and September 2015 were reviewed. Characteristics related to the patient, the procedure, the device and the isolated microorganism were described. Results: 22 patients were admitted for infections related to cardiovascular implantable Electronic devices Average age was 63 years (SD 13.7) and 86% were male. Half of the patients suffered from chronic renal disease and only 27% diabetes mellitus. All cases had at least 2 intracardiac electrodes and 40.91% had required a previous replacement of the device. The most frequently isolated germ was Staphylococcus epidermidis. Mortality rate was 22.73%. Conclusions: Cardiovascular device-related infections are more and more frequent. The presence of a local or systemic infection with or without intracardiac involvement must be identified. The goals of the treatment are oriented towards the removal of the cardiovascular device and empirical antibiotic therapy.

Formative evaluation of a proposed mHealth program for childhood illness management in a resource-limited setting in Peru / Evaluación formativa de un programa de salud móvil propuesto para el manejo de las enfermedades de la infancia en un entorno del Perú con recursos limitados

OBJECTIVE: To conduct a formative evaluation of a proposed mobile health (mHealth) program designed to educate caregivers about management of common childhood illnesses. METHODS: A cluster-randomized sample (n = 220) of mothers in Cono Norte, Arequipa, Peru with at least one child under five completed an iPad-based survey. This descriptive study examined trends in mobile phone ownership and feasibility of and interest in mHealth across sociodemographic categories. Fisher's exact tests were used to evaluate associations. Univariate logistic regression models were fitted to calculate odds ratios and 95% confidence intervals. RESULTS: Of 220 participants, 82.3% and 95.0% reported mobile phone ownership and access, respectively. Ownership was significantly associated with educational level (P = 0.031); however, even among mothers with the lowest education, ownership approached 80%. Educational level and age, respectively, were associated with the ability to open (P < 0.001; P < 0.001), read (P < 0.001; P < 0.001), write (P < 0.001; P < 0.001), and send (P = 0.006; P = 0.047) text messages. Over 85% of mothers were interested in using their mobile phones to receive health advice for their child and to seek help during illness. Regression analyses revealed that ability to use a mobile phone was positively associated with the mother's intention to participate in the mHealth program. CONCLUSIONS: The study findings confirm widespread access to mobile phones and sufficient ability to utilize text messaging within this population of caregivers. In addition to access and feasibility, high levels of interest in using mobile phones for health-related purposes suggest the potential value associated with an mHealth program designed to improve childhood illness management in this community.

OBJETIVO: Llevar a cabo una evaluación formativa de un programa de salud móvil (mSalud)) diseñado para educar a los cuidadores acerca del manejo de las enfermedades comunes de la infancia. MÉTODOS: Una muestra aleatorizada por conglomerados (n = 220) de madres de Cono Norte, Arequipa (Perú), que como mínimo tenían un hijo menor de cinco años, completaron una encuesta mediante iPad. Este estudio descriptivo analizó las tendencias en cuanto a la posesión de un teléfono móvil, y la viabilidad y el interés de un programa de mSalud en las diferentes categorías sociodemográficas. Se emplearon pruebas exactas de Fisher para evaluar las asociaciones. Se ajustaron modelos de regresión logística de una sola variable para calcular las razones de posibilidades y los intervalos de confianza de 95%. RESULTADOS: De las 220 participantes, un 95% tenían acceso a un teléfono móvil, de su propiedad (82,3%) o no. La posesión de un teléfono móvil se asoció significativamente con el nivel educativo (P = 0,031); sin embargo, incluso entre las madres con un nivel de formación inferior, un 80% tenían teléfono móvil. El nivel educativo y la edad, respectivamente, se asociaron con la capacidad para abrir (P < 0,001; P < 0,001), leer (P < 0,001; P < 0,001), escribir (P < 0,001; P < 0,001) y enviar (P = 0,006; P = 0,047) mensajes de texto. Más de 85% de las madres estaban interesadas en el uso de sus teléfonos móviles para recibir asesoramiento en temas de salud para su hijo y buscar ayuda en caso de enfermedad. Los análisis de regresión revelaron que la capacidad de usar el teléfono móvil se asociaba positivamente con la intención de la madre de participar en el programa de mSalud. CONCLUSIONS: Los resultados del estudio confirman la generalización del acceso a los teléfonos móviles y de la habilidad suficiente para el envío de mensajes de texto en esta población de cuidadoras. Además del acceso y la viabilidad, los elevados niveles de interés en el uso de los teléfonos móviles para las finalidades relacionadas con la salud indican el valor potencial de un programa de mSalud diseñado para mejorar el manejo de las enfermedades de la infancia en esta comunidad.

Análisis genético molecular en atrofia muscular espinal / Molecular evaluation in infantile spinal muscular atrophy

Introducción: La atrofia muscular espinal de la infancia (AMEi) es una enfermedad neurodegenerativa, causada principalmente por deleciones del gen SMN 1 en su locus 5q11.1-13.3. La severidad va desde el tipo I, que compromete la vida en edades tempranas, hasta el tipo IV. Objetivos: Se describen hallazgos moleculares en pacientes con AME, nacionalmente remitidos al Instituto de Neurología y Neurocirugía así como se reporta la frecuencia por 100.000 habitantes en cada una de las provincias de la isla. Pacientes y Métodos: 105 pacientes fueron estudiados, remitidos entre 1997 y 2011. Para la detección de las deleciones se utilizó la técnica de reacción en cadena de la polimerasa (PCR) con cebadores correspondientes a los exones 7 y 8 del gen SMN 1, y digestión con enzimas DraI y DdeI respectivamente y analizados en gel de agarosa al 2 por ciento. Resultados y Discusión: Se encontró un 59 por ciento diagnosticados como AME I, 28,6 por ciento AME II, 12,4 por ciento AME III. Del total de casos 36,2 por ciento resultaron tener deleción de los exones 7 y 8, 35,2 por ciento deleción del exón 7 solamente y 28,2 por ciento no presentaron deleción de los exones correspondientes. Se discuten dichos resultados de acuerdo a la literatura internacional. Se presentan los resultados de frecuencias por 100.000 habitantes en cada provincia del país y discuten dichas frecuencias de acuerdo a la diversidad ancestral de la población cubana. Se concluye lo novedoso del estudio que constituye el primer reporte en una población caribeña.

Introduction: Infantile Spinal Muscular Atrophy (infantile SMA) is a neurodegenerative disease caused primarily by the deletion of the SMN1 gene at 5q11.1 - 13.3. Its severity ranges from type I, in early childhood, to type IV. Objectives: To describe molecular findings in patients with SMA, who were nationally referred to the Institute of Neurology and Neurosurgery and to describe the frequency per 100,000 people in each province of the island. Patients and Methods: 105 patients, referred between 1997 and 2011, were studied. The polymerase chain reaction (PCR) technique was used to detect the deletions of exons 7 and 8 of the SMN1 gene, and DraI and DdeI enzymes, in 2 percent agarose gel, were used for digestion. Results: 59 percent of the patients were diagnosed with SMA I, 28.6 percent with SMA II and 12.4 percent with SMA III. 36.2 percent of total patients presented deletions of exons 7, 8, 35.2 percent only deletion of exon 7 and 28.2 percentdid not present deletion of exons. Conclusion: These results are discussed according to the international literature. The frequency per 100,000 inhabitants in each province is presented and discussed according to ancestral diversity of the Cuban population. Also, the originality of the study is mentioned as it is the first report of this type in a Caribbean population.

Asociación entre tuberculosis y diabetes mellitus en la región metropolitana / Associated tuberculosis and diabetes mellitus in Santiago de Chile metropolitan area

Introducción: Los pacientes con diabetes mellitus (DM) son reconocidos como grupo de riesgo para desarrollar tuberculosis. Sin embargo, existe un importante sub-registro de la diabetes como factor de riesgo entre los casos de tuberculosis, que no permite cuantificar la magnitud de este grupo. Este estudio busca determinar laprevalencia de DM entre los casos de tuberculosis (TB) diagnosticados el año 2012 en la Región Metropolitana y estimar la asociación entre estas dos patologías. Método: Se efectuó un estudio transversal analítico, en que todos los casos de TB mayores de 15 años de la Región Metropolitana del año 2012 consignados en el Registro Nacional de Tuberculosis, fueron buscados en el Sistema de Información para la Gestión de Garantías en Salud (SIGGES) para determinar si tenían o no DM. Se realizó el análisis de prevalencias por edad, sexo y Servicio de Salud y se determinó el nivel de asociación con la razón de prevalencia y la estimación de la tasa de incidencia de tuberculosis entre diabéticos y no diabéticos. Resultados: Del total de casos de TB de la región Metropolitana se excluyeron 23 casos por no disponer de la información necesaria, quedando un total de 821 casos. La prevalencia de DM fue de 15,6 por ciento (13,2-18,2), con una razón de prevalencia ajustada por edad de 1,29 (1,28-1,29) respecto a la población general y de 1,73 (1,72-1,73) ajustada por sexo. La tasa de incidencia estimada de TB entre población diabética es de 24,3 por 100.000, 1,7 veces la de la población general de la región. Conclusiones: La prevalencia de DM en la población con tuberculosis de la Región Metropolitana fue mayor que la encontrada en la población general y se ratifica a los diabéticos como grupo de riesgo para desarrollar tuberculosis.

Background: Diabetes mellitus (DM) is recognized as an important risk factor to tuberculosis (TB). However, there is significant diabetes under registration among tuberculosis cases which does not allow quantify the magnitude of this group. This study aims to determine the prevalence of DM among TB cases diagnosed in 2012 in Santiago de Chile, metropolitan area and to estimate the association of these two diseases. Method: A cross sectional study was undertaken. TB cases reported in the National Register of Tuberculosis were sought in the Information System for Management of Health Guarantees (SIGGES) to determine we ther or not they had be sides DM. The analysis of prevalence by age, sex and health service area was carried out, prevalence ratio was used to determine the level of association, and incidence rate of tuberculosis among diabetics and non-diabetics was estimated. Results: 23 TB cases were excluded for lack of necessary information, leaving a total of 821 cases. Prevalence of DM was 15.6% (13.2-18.2), with a prevalence ratio adjusted by age of 1.29 (1.28-1.29) respect to general population, and 1.73 (1.72-1.73) adjusted by sex. The estimated incidence rate of TB among diabetic population is 24.3 per 100,000, that is to say 1.7 times higher than general population of the region. Conclusions: Prevalence of DM in tuberculosis cases in Metropolitan Region was greater than in the general population. The study confirms that diabetics are a risk group for developing tuberculosis.

Influencia de las mutaciones en los genes de conexina en el desarrollo de hipoacusia neurosensorial no sindrómica / Impact of mutations in connexin genes on the development of non-syndromic sensorineural hearing loss

La principal causa de hipoacusia no-sindrómica autosómica recesiva (HNSAR) son mutaciones en el locus DFNB1, que contiene los genes GJB2 (conexina 26) y GJB6 (conexina 30). Se han descripto más de 100 mutaciones diferentes en GJB2. Dos deleciones en GJB6, del (GJB6-D13S1830) y del(GJB6-D13S1854) mostraron ser prevalentes en España. El objetivo de este trabajo fue determinar la prevalencia de mutaciones en los genes GJB2 y GJB6, en niños con HNSAR de Argentina. Este estudio incluyó 113 niños no relacionados con hipoacusia neurosensorial no-sindrómica moderada a profunda. Para el análisis molecular se utilizó una estrategia en etapas. La mutación 35delG (gen GJB2) se analizó mediante PCR-RFLP. La presencia de deleciones en GJB6 se investigó por PCR múltiple. Las muestras no resueltas en las dos primeras etapas fueron analizadas por secuenciación directa del gen GJB2. En 58 pacientes se encontraron alteraciones en la secuencia de los genes GJB2/GJB6. La mutación 35delG se detectó en 52 de los 84 alelos con mutaciones patogénicas. Se identificaron 16 variantes de secuencia diferentes; entre ellas una mutación no descripta previamente, 262G>C (A88P). La deleción del (GJB6-D13S1830) fue identificada en 7 alelos. La frecuencia de mutaciones en GJB2/GJB6 encontrada en este trabajo está en concordancia con la de otras poblaciones caucásicas. La mutación más prevalente fue 35delG y la segunda mutación más común la deleción del (GJB6-D13S1830), con frecuencias similares a las encontradas en España, desde donde Argentina recibió una de sus mayores olas inmigratorias. Estos resultados destacan la importancia del estudio de los genes GJB2/GJB6 en el diagnóstico etiológico de sordera permitiendo un tratamiento precoz y un asesoramiento genético oportuno.

The main cause of autosomal recessive nonsyndromic hear-ing loss (ARNSHL) are mutations in genes GJB2 (connexin 26) and GJB6 (connexin 30) at the DFNB1 locus. More than 100 different mutations in GJB2 have been described. Two dele-tions in GJB6, of (GJB6-D13S1830) and of (GJB6-D13S1854) have been found prevalent in Spain. The aim of this study was to determine the prevalence of GJB2 and GJB6 gene muta-tions in children with ARNSHL in Argentina. In the study, 113 non-related children with moderate to profound nonsyndromic sensorineural hearing loss were included. A staging strategy was used for molecular analysis. The 35delG mutation (gene GJB2) was analyzed using PCR-RFLP. The presence of de-letions in GJB6 was tested by multiplex PCR. Samples that were not resolved in the first two stages were subsequently assessed by direct sequencing of the GJB2 gene. In 58 patients abnormal patterns were found in the GJB2/GJB6 sequences. The 35delG mutation was detected in 52 of the 84 alleles with pathogenic mutations. Sixteen different sequence variants were identified of which one, 262G>C (A88P), was not previously described. Deletion of (GJB6-D13S1830) was identified in 7 alleles. The rate of mutations in GJB2/GJB6 found in this study is similar to that reported in other Caucasian populations. The most prevalent mutation was 35delG followed by a deletion of (GJB6-D13S1830), with a rate similar to that found in Spain from which Argentina received one of the largest waves of immigrants. These results emphasize the need to study GJB2/GJB6 genes in the etiological diagnosis of hearing loss allowing for early treatment and adequate genetic counseling.

Tratamiento sistémico del penfigoide cicatrizal ocular / Systemic treatment of ocular cicatricial pemphigoid

El penfigoide cicatrizal ocular (PCO) es una enfermedad ampollar autoinmune que produce daño conjuntival grave. Se conoce poco acerca de la respuesta del PCO al tratamiento inmunosupresor. Describimos un grupo de 76 pacientes con PCO, 62 mujeres y 14 hombres. La edad media al diagnóstico fue de 67 ± 14 años, con un retraso de 7.5 ± 10 años. Sesenta se siguieron en nuestro servicio por 19 ± 21 meses. De 51 en quienes se describe la gravedad de la enfermedad al inicio del tratamiento, fue leve en 19 pacientes, moderada en 19, grave en cinco y muy grave en ocho. Las drogas mayormente prescriptas fueron dapsona en 35 pacientes, de los que 23 la discontinuaron por efectos adversos, y metotrexate en 42, de los que nueve lo suspendieron. Otros recibieron azatioprina, ciclofosfamida y ciclosporina. A 17 se les indicaron corticoides orales, además del inmunosupresor. Cuatro combinaron dos drogas para controlar la enfermedad. Tres pacientes refractarios recibieron gammaglobulina EV con buena respuesta. De 48 evaluados, 39 mostraron mejoría, ocho no tuvieron cambios y uno progresó. En nuestra experiencia, metotrexate y azatioprina son efectivos, con baja toxicidad. Dapsona es útil en casos leves, con efectos adversos frecuentes. La gammaglobulina EV fue efectiva en casos refractarios.

Ocular cicatricial pemphigoid (OCP) is a blistering autoimmune disease that can produce severe conjunctival damage. Its response to immunosuppressive treatment is poorly known. We describe a group of 76 patients, 62 women and 14 men. Mean age at diagnosis was 67±14 years old, with a delay to diagnosis of 7.5±10 years. Sixty patients continued their follow up in our services for 19±21 months. Nineteen out of 51 had mild disease, 19 moderate, 5 severe and 8 very severe at onset of treatment. The more frequently prescribed drugs were dapsone, in 35 (23 discontinued it because of adverse effects), and methotrexate in 42 patients, nine of them stopped it. Other patients received azathioprine, cyclophosphamide and ciclosporine. Seventeen received oral steroids in addition to immunosuppresive drugs. Four patients combined two immunosupressive drugs to control their disease. In three refractory cases IV immunoglobulin (Ig) was administered with good response. From 48 evaluated patients, 39 improved with treatment, eight remained stable and one progressed. In our experience, methotrexate and azathioprine were effective drugs, with low toxicity. Dapsone was useful in mild cases, with frequent adverse effects. IVIg was effective for refractory cases.

Síndrome de Sweet asociado a carcinoma metastásico de mama / Swwwt's syndrome associated with metastatic breast carcinoma

El síndrome de Sweet es la dermatosis neutrofílica más frecuente. Se caracteriza por fiebre, mal estado general, aparición brusca de pápulas y placas eritematosas, edematosas y dolorosas, en ocasiones con vesículas y pústulas estériles en superficie, localizadas en cabeza, cuello y parte superior del tronco; leucocitosis neutrofílicas y un infiltrado inflamatorio difuso en dermis superficial, constituido predominantemente por neutrófilos. Es un marcador de múltiples asociaciones mórbidas como infecciones, neoplasias malignas, enfermedad inflamatoria intestinal crónica y procesos autoinmunes. Puede ser desencadenado por drogas y también se ha vinculado con embarazo y traumatismos. El brote de lesiones de Sweet debe hacer sospechar la presencia de una neoplasia, o bien como ocurrió en nuestra paciente, su diseminación metastásica. Se destaca que la mayor cantidad de trabajos en los que se comunica su asociación con carcinoma de mama corresponden a la literatura nacional.

A Study of Quarterly Trend of Infectious Tuberculosis and Evaluation of Tuberculosis Control Program in Post Conflict Sierra Leone; 2002-2005

This study aimed to measure the impact of directly observed treatment short-course (DOTS) coverage on notification of infectious tuberculosis (TB) and treatment cure rate in the post conflict period of 2002 to 2005 in Sierra Leone. The study was a population based retrospective study on implementation of DOTS expansion by the National Leprosy TB Control Program (NLTCP). Data recorded in district TB registers and TB annual reports were analysed for trend of infectious TB registered quarterly; treatment cure rates and number DOTS centres opened per annum. A trend analysis of proportion of infectious TB (sputum smear positive) to all TB cases reported to the central program each quarter during the periods 2002 to 2005 was plotted. However; this did not appear to show any discernable pattern but the following observations were made. In 2003 the lowest proportion of infectious TB cases was reported. Furthermore; there appeared to be a decline in proportion of infectious TB cases reported in the third quarter of each year; corresponding to the peak of the rainy season. An evaluation of DOTS expansion based on Donabedian.s triad showed that 76of the target set for 2005 was achieved; that is 53 of the targeted 70 DOTS centres were opened by the end of 2005. A correlation-regression analysis gave a correlation coefficient (R) of 0.22 which suggests a weak relationship between treatment cure rate and district population DOTS coverage. The implementation of DOTS expansion by the NLTCP considerably improved DOTS coverage and treatment cure rates in the immediate post conflict period of 2002 to 2005. However; there was a weak association between district DOTS coverage and treatment cure rates; and its impact on trend of infectious TB notification was limited during this period

Capillaria spp. eggs in Patagonian archaeological sites: statistical analysis of morphometric data

Discriminant analysis was used to identify eggs of Capillaria spp. at specific level found in organic remains from an archaeological site in Patagonia, Argentina, dated of 6,540 ± 110 years before present. In order to distinguish eggshell morphology 149 eggs were measured and grouped into four arbitrary subsets. The analysis used on egg width and length discriminated them into different morphotypes (Wilks' lambda = 0.381, p < 0.05). The correlation analysis suggests that width was the most important variable to discriminate among the Capillaria spp. egg morphotypes (Pearson coefficient = 0.950, p < 0.05). The study of eggshell patterns, the relative frequency in the sample, and the morphometric data allowed us to correlate the four morphotypes with Capillaria species.