Clinical characteristics and treatment of perianal fistulising Crohn's disease in Colombia: Results of a multicentric registry. / Características clínicas y tratamiento de la enfermedad de Crohn perianal fistulizante en Colombia: resultados de un registro multicéntrico.

INTRODUCTION: Perianal fistulizing Crohn's disease (CD) is a phenotype with a poor prognosis. There are no studies in our country. Our objective is to determine the clinical, sociodemographic and treatment characteristics of perianal fistulizing CD in a Colombian multicenter registry. MATERIALS AND METHODS: A retrospective, multicenter observational study was carried out, with prospective data collection, in the main reference centers for inflammatory Bowel disease (IBD) in the country. Continuous variables were expressed as medians and interquartile ranges. The categorical outcome variables were compared by the Chi-square test. RESULTS: Sixty-five patients with perianal fistulizing CD were documented, with a median age of appearance of perianal fistula of 31.0 years (range: 24-42), predominantly in men (61.5%; H:M ratio: 1.4:1). Complex perianal fistulas were more frequent than simple ones (75.35 vs. 24.6%). Regarding medical treatment, 66.2% of the patients received antibiotics, 64.6% steroids, 78.5% biological therapy, 47.7% non-cutting setons, and 46.2% required surgical management, other than seton placement. Only 29.2% achieved complete remission of the fistula, and 9.2% of the patients ended up in a definitive colostomy. CD patients with complex fistulas received more biological therapy, compared to CD patients with simple fistulas (84.8 vs. 56.3%; P: 0.038). CONCLUSIONS: Perianal fistulizing CD has a poor prognosis in our setting, only 3 out of 10 patients achieve complete remission despite treatment. A multidisciplinary management is essential for the comprehensive management of this difficult pathology.

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%-80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency.

Inadvertent retention of Descemet membrane after penetrating keratoplasty for pseudophakic bullous keratopathy.

A retained Descemet membrane pertains to a type of retrocorneal membrane-a well-known yet rare complication of penetrating keratoplasty. We present a case of retained Descemet membrane after penetrating keratoplasty for pseudophakic bullous keratopathy. A 71-year-old woman presented to the ophthalmology clinic for loss of visual acuity. The previous year she had undergone phacoemulsification on both eyes, resulting in pseudophakic bullous keratopathy in the right eye; an uneventful penetrating keratoplasty was performed on the affected eye. The following day at follow-up, an undulated retrocorneal membrane was discovered on slit-lamp examination: corresponding to a retained Descemet membrane. A satisfactory descemetorhexis was performed. Timely diagnosis and intervention allowed for a remarkable outcome, with a best-corrected visual acuity of 20/50 OD with contact lens use.

Successful Management of Corneal Hydrops and Intrastromal Corneal Ring Segment (ICRS) Migration Following ICRS Implantation for Keratoconus.

BACKGROUND Acute corneal hydrops refers to a rare complication of keratoconus and other ectatic disorders with potentially sight-threatening sequelae. Intrastromal corneal ring segment (ICRS) implantation is a surgical procedure performed as therapy for keratoconus when there is contact lens intolerance. ICRS migration along the tunnel made for its insertion is one of its most frequent complications. We believe this is the first published case of acute corneal hydrops and ICRS migration unfolding shortly after an uneventful ICRS implantation, and successfully managed with medical treatment and ICRS reimplantation, respectively. CASE REPORT A 17-year-old male, previously diagnosed with bilateral keratoconus 4 years earlier for which he underwent cross-linking surgery for both eyes 3 years prior, presented to our department for a first-time keratoconus assessment. His best-corrected visual acuity (BCVA) was 20/25 OD and 20/40 OS with rigid gas-permeable contact lenses. Due to contact lens intolerance in the OS and lack of custom-fit scleral lenses at the time, 2 ring segments (Ferrara, AJL Ophthalmic, Inc.) with an arc length of 160 degrees and 300 µm in size were implanted at a depth of 320 µm. Within 1 week, severe hydrops and ICRS migration emerged. Medical treatment provided resolution of hydrops and then ICRS reimplantation was performed without further complications, resulting in contact lens tolerance alongside a BCVA of 20/40 OS. CONCLUSIONS Corneal hydrops is a challenging complication in ICRS implantation due to its infrequent occurrence and the severity of its potential sequelae. Prompt medical treatment and close follow-up are essential to obtain the best outcome in these instances.

Reanimación cardiopulmocerebral en la carrera Medicina: diferencias entre los planes de estudios D y E / Cardiopulmonary-cerebral resuscitation in the Medicine career: differences between study plans D and E

Fundamento: la reanimación cardiopulmocerebral básica está presente como curso propio en los planes de estudios "D" y "E" de la carrera de Medicina; aunque en ambos la organización del proceso tiene sus particularidades. Objetivo: precisar las diferencias en cuanto a estructura, proceso docente y resultados académicos en la enseñanza de la reanimación cardiopulmocerebral básica, entre los planes de estudios "D" y "E" de la carrera de Medicina. Métodos: se realizó un estudio descriptivo, prospectivo, transversal, en la Universidad de Ciencias Médicas de Cienfuegos en los años 2017 y 2019. Se utilizaron métodos teóricos y empíricos. Para comparar resultados se utilizó el universo estudiantil en ambos años, para evaluar satisfacción y calidad una muestra aleatoria simple. Se utilizaron técnicas de estadística descriptiva. Para ambos cursos se utilizó similar escenario y claustro de profesores. Resultados: las diferencias entre ambos planes derivan de los componentes no personales del proceso docente; el plan "D" tiene 20 horas y el "E" 40, con lo cual se amplían sus contenidos. Todos los temas y objetivos del plan "D" estuvieron incluidos en el "E". Hubo similitud en las promociones general (80.4 % y 75.2 %) y de calidad (50.6 % y 53.1 %) en ambos años. El cumplimiento de las expectativas, satisfacción y calidad del proceso fue valorado de muy alto y alto (más 98 %) por los estudiantes en ambos cursos. Conclusiones: aunque existieron diferencias en el proceso enseñanza aprendizaje entre ambos planes, no hubo repercusión en la satisfacción de los estudiantes, calidad del proceso docente, ni los resultados académicos. La variante del plan "E" es más integral para la formación básica del apoyo vital.

Background: basic cardiopulmonary-cerebral resuscitation is present as its own course in the "D" and "E" study plans of the Medicine career; although in both the organization of the process has its particularities. Objective: to specify the differences in terms of structure, teaching process and academic results in the teaching of basic cardiopulmonary-cerebral resuscitation, between the "D" and "E" study plans of the Medicine career. Methods: a descriptive, prospective, cross-sectional study was carried out at Cienfuegos University of Medical Sciences from 2017 to 2019. Theoretical and empirical methods were used. To compare results, the student universe was used in both years, to evaluate satisfaction and quality a simple random sample. Descriptive statistical techniques were used. For both courses, a similar scenario and faculty were used. Results: the differences between both plans derive from the non-personal components of the teaching process; plan "D" has 20 hours and plan "E" 40, which expands its contents. All the topics and objectives of plan "D" were included in plan "E". There was similarity in the general (80.4% and 75.2%) and quality (50.6% and 53.1%) school grades in both years. The fulfillment of the expectations, satisfaction and quality of the process was valued as very high and high (more than 98%) by the students in both courses. Conclusions: although there were differences in the teaching-learning process between both plans, there was no impact on student satisfaction, quality of the teaching process, or academic results. The "E" plan variant is more comprehensive for basic life support training.

Osteomielitis crónica como evidencia de una fuente de sepsis no controlada. Presentación de un caso / Chronic osteomyelitis as evidence of a source of uncontrolled sepsis. A case report

RESUMEN La sepsis y el shock séptico son problemas importantes de salud, que afectan a millones de personas en todo el mundo y tienen una elevada letalidad. El control de la fuente de infección es uno de los aspectos fundamentales para lograr el éxito en el tratamiento. Una vez sospechada la sepsis como síndrome, se deben realizar todas las pruebas para identificar el sitio primario de origen y recurrir a los equipos de especialistas necesarios. El objetivo de este trabajo es transmitir las experiencias derivadas de la atención de una lactante cuyo diagnóstico de shock séptico se hizo de manera retrospectiva al descubrir osteomielitis crónica del extremo distal del fémur derecho como fuente primaria de infección no diagnosticada. La paciente se recibió en la unidad de cuidados intensivos pediátricos con disfunción de varios órganos. El diagnóstico se enfocó al principio hacia una miocarditis aguda viral, pero cuatro semanas después se diagnosticó una osteomielitis con criterios de cronicidad. El análisis retrospectivo hizo descartar el diagnóstico anterior y plantear una osteomielitis aguda como desencadenante de un shock séptico, cuadro de inicio solapado, pero que casi comprometió la vida de la paciente. En presencia de un cuadro sospechoso de sepsis se debe buscar de forma exhaustiva la presencia de una fuente de infección. Dada su frecuencia, la osteomieltis hematógena aguda debe ser tenida en cuenta.

ABSTRACT Sepsis and septic shock are major health problems that affect millions of people worldwide and have a high lethality. The infection source control is one of the fundamental aspects to achieve success in treatment. Once sepsis is suspected as a syndrome, all tests should be performed to identify the primary site of origin and the necessary specialist teams should be used. The objective of this work is to transmit the experiences derived from the care of an infant whose diagnosis of septic shock was made retrospectively when chronic osteomyelitis of the distal end of the right femur was discovered as a primary source of undiagnosed infection. The patient was admitted to the pediatric intensive care unit with multi-organ dysfunction. The diagnosis initially focused on acute viral myocarditis, but four weeks later osteomyelitis was diagnosed with chronicity criteria. The retrospective analysis ruled out the previous diagnosis and suggested acute osteomyelitis as the cause for septic shock, a clinical picture that began in a hidden way, but which almost compromised the patient's life. In the presence of a suspicious case of sepsis, the presence of a source of infection should be exhaustively searched. Given its frequency, acute hematogenous osteomyelitis should be taken into account.

Bacillus thuringiensis A21, un aislado no tóxico de elevada actividad larvicida residual contra Aedes aegypti / Bacillus thuringiensis A21, a non-toxic isolate of high residual larvicidal activity against Aedes aegypti

Introducción: Los productos derivados de Bacillus thuringiensis se han empleado con éxito en el control de insectos. Sin embargo, la poca residualidad promueve la búsqueda de alternativas. En Cuba diferentes estudios informan la evaluación y selección de aislamientos de B. thuringiensis con actividad larvicida contra Aedes aegypti: el aislado A21 se destaca por su elevada actividad larvicida y ausencia de betaexotoxina. Objetivo: Evaluar la toxicidad/patogenicidad aguda oral y actividad larvicida residual del aislado A21. Métodos: La evaluación de la toxicidad/patogenicidad aguda oral del aislado A21 se estableció en el modelo biológico Rattus norvegicus. Se realizaron observaciones clínicas diarias de los animales y se evaluó el peso corporal. Se estimó la eliminación y la infectividad de B. thuringiensis mediante análisis de muestras de heces, y de fluidos y órganos, respectivamente. Para determinar la actividad larvicida residual del aislado A21 frente a larvas de Ae. aegypti se realizaron bioensayos con diferentes volúmenes de recambios de agua semanal (total, parcial, no recambio) en los recipientes. La mortalidad obtenida se calculó a las 24-72 h. Resultados: Con el aislado A21 no se detectó toxicidad/patogenicidad aguda oral en Rattus norvegicus. En el estudio de residualidad, la mortalidad larvaria a las 72 h se mantuvo elevada (80-100 por ciento) hasta la semana 24. A partir de la semana 25 la mortalidad larvaria disminuyó (p < 0,05). Conclusiones: Se evidencia la baja toxicidad y la elevada actividad larvicida residual del aislado A21 contra Ae. aegypti y lo convierten en un candidato promisorio para el desarrollo de biolarvicidas. Estos productos biológicos podrían contribuir a mejorar las estrategias de control del vector existentes en Cuba(AU)

ABSTRACT Introduction: Bacillus thuringiensis-based products have been successfully used for insect control. However, their low residuality promotes the search for alternatives. In Cuba, different studies have informed about the evaluation and selection of B. thuringiensis isolates with larvicidal activity against Aedes aegypti: isolate A21 highlights for its high larvicidal activity and absence of beta-exotoxins. Objective: To evaluate the acute oral toxicity/pathogenicity and the residual larvicidal activity of isolate A21. Methods: The evaluation of the acute oral toxicity/pathogenicity of isolate A21 was established in the animal model Rattus norvegicus. Daily clinical observations of the animals were carried out, and their body weight was evaluated. The elimination and infectivity of B. thuringiensis were estimated by analyzing feces, and fluids and organs samples, respectively. To determine the residual larvicidal activity of isolate A21 to Ae. aegypti larvae, bioassays were conducted with different volumes of weekly water changes (total, partial, no change) in the containers. Mortality was calculated at 24h-72h. Results: No acute oral toxicity/pathogenicity was detected with isolate A21 in Rattus norvegicus. In the study of residuality, at 72h larval mortality remained high (80 percent-100%) until week 24, decreasing from week 25 (p < 0.05). Conclusions: It is evidenced the low toxicity and high residual larvicidal activity of isolate A21 against Ae. aegypti, which makes it a promising candidate for the development of biolarvicides. These biological products could contribute to the improvements of the existing vector control strategies in Cuba(AU)

Síndrome inflamatorio multisistémico asociado a COVID-19

Introducción: En mayo de 2020 en Reino Unido y EE UU se documentaron casos de una enfermedad que compartía características clínicas y analíticas con la enfermedad de Kawasaki, la cual se asoció a una disregulación inmunitaria secundaria a una infección reciente por SARS-CoV-2. Objetivo: Comunicar las experiencias de la evolución y el tratamiento de una paciente con diagnóstico de esta nueva enfermedad. Presentación del caso: Adolescente de 17 años con antecedentes de haber padecido de COVID-19 seis semanas antes de su presentación en el hospital. Se recibe con lesiones mucocutáneas, polipnea, taquicardia, ictericia y astenia. Dos horas después de llegar a la unidad de cuidados intensivos comenzó con taquicardia ventricular sin pulsos, de la cual hizo dos eventos que requirieron reanimación cardiopulmonar avanzada. Fue necesario apoyo inotrópico por varios días debido a la afectación miocárdica. Después de 72 h con una fracción de eyección del ventrículo izquierdo por debajo de 35 %, comenzó a mejorar hasta la recuperación completa. Recibió tratamiento con metilprednisolona IV y con el péptido inmunoregulador cubano jusvinza. Conclusiones: El síndrome inflamatorio multisistémico asociado a COVID-19, presentado por primera vez en la provincia de Cienfuegos, es una afección nueva, que usualmente es grave y requiere cuidados intensivos debido a que produce disfunción orgánica, pero sobre todo afectación cardíaca. Tiene una presentación clínica similar a enfermedades más comunes, por lo que es fundamental estar alerta para un diagnóstico oportuno que garantice el éxito del tratamiento y evite la muerte.

Introduction: In May 2020, cases of a disease that shared clinical and analytical features with Kawasaki disease were documented in the United Kingdom and the United States, which were associated with immune dysregulation secondary to a recent SARS-CoV-2 infection. Objective: To communicate the experiences of the evolution and treatment of a patient diagnosed with this new disease. Case presentation: A 17-year-old teenager with a history of COVID-19 six weeks ago. He was admitted with mucocutaneous lesions, polypnea, tachycardia, jaundice and asthenia. Two hours after arriving at the intensive care unit, he presented pulseless ventricular tachycardia, of which he did two events that required advanced cardiopulmonary resuscitation. Inotropic support was required for several days due to myocardial involvement. After 72 hours with a left ventricular ejection fraction below 35%, he began to improve until complete recovery. He received treatment with IV methylprednisolone and the Cuban immunoregulatory peptide jusvinza. Conclusions: The multisystem inflammatory syndrome associated with COVID-19, presented for the first time in the province of Cienfuegos, is a new condition, which is usually serious and requires intensive care because it produces organic dysfunction, but above all cardiac involvement. It has a clinical presentation similar to more common diseases, so it is essential to be alert for a timely diagnosis that guarantees the success of treatment and prevents death.

Factores de riesgo asociados a colonización nasofaríngea en niños vacunados con vacunas antineumocócicas. Cienfuegos 2015-16 / Risk factors associated with nasopharyngeal colonization in children vaccinated with pneumococcal vaccines. Cienfuegos, 2015-16

Introducción: La colonización nasofaríngea por neumococo se define como el momento inicial en el que la bacteria se aloja en la nasofaringe del individuo. Objetivo: Estimar la proporción de factores de riesgo asociados a la colonización nasofaríngea por neumococo en niños vacunados con vacunas conjugadas antineumocócicas (PCV). Material y Métodos: Un año después de la vacunación antineumócocica mediante un ensayo clínico fase II/III, controlado, aleatorizado y doble ciego en niños de 1 a 5 años, se ejecutó un estudio de seguimiento con un diseño casos y controles, tipo caso-caso. El horizonte temporal fue desde noviembre de 2015 hasta abril de 2016. Se incluyó 50 por ciento del total de vacunados en el estudio experimental. El universo lo constituyó los 1 135 niños vacunados en el ensayo clínico. Se siguió un muestreo aleatorio simple y se incluyeron 555 sujetos. Se realizó una encuesta y una toma de muestra de exudado nasofaríngeo. Se presentaron tablas de frecuencias. Se utilizó la razón de prevalencia como medida de asociación. Se calcularon los intervalos de confianza a 95 por ciento para cada proporción. Resultados: Tener entre 2 y 5 años actúa como factor protector para la colonización nasofaríngea con respecto al niño pequeño. Convivir con personas mayores de 65 años constituye un factor de riesgo significativamente relacionado con la colonización nasofaríngea. Conclusiones: La introducción de vacunas antineumocócicas en niños preescolares puede impactar de manera significativa la carga de colonización y en la trasmisión de la enfermedad neumocócica(AU)

Introduction: Nasopharyngeal colonization by pneumococci is defined as the initial moment when the bacterium lodges in the nasopharynx of the person. Objective: To estimate the proportion of risk factors associated with nasopharyngeal colonization by pneumococci in children vaccinated with conjugate pneumococcal vaccines (CPV). Material and Methods: One year after pneumococcal vaccination, a follow-up case-case-control study was conducted in children aged 1-5 years by means of a phase II/III controlled, randomized, double-blind clinical trial. The time horizon was from November 2015 to April 2016. The study included 50 percent of the total of children vaccinated during the experimental study. The universe consisted of 1135 children who were vaccinated during the clinical trial. A simple random sampling that included 555 persons was applied. A survey was conducted and nasopharyngeal exudate samples were taken. Tables of frequencies were presented. Prevalence ratio was used as a measure of association. Also, 95 percent confidence intervals were calculated for each proportion. Results: Being between the ages of 2-5 years acts as protective factor against nasopharyngeal colonization with respect to the young child. Living with persons older than 65 years is a significantly associated risk factor with nasopharyngeal colonization. Conclusions: The introduction of pneumococcal vaccines in pre-school children can have a significant impact on colonization burden and the transmission of pneumococcal diseases(AU)

Concordancia clínico-patológica en fallecidos en el Hospital Pediátrico de Cienfuegos (2000-2015) / Clinical-pathological concordance in deceased at the Cienfuegos Pediatric Hospital, 2000-2015

RESUMEN Fundamento La concordancia y discrepancia de las causas de muerte entre el diagnóstico clínico y el morfológico son, de forma indirecta, indicadores de calidad en la atención hospitalaria, y han tenido un papel fundamental en la educación médica. Objetivo describir el comportamiento de la concordancia clínico-patológica en una serie de fallecidos en edades pediátricas. Métodos se realizó un estudio observacional, descriptivo, en el Hospital Pediátrico de Cienfuegos, en el periodo comprendido del 1ro. de enero de 2000 hasta el 31 diciembre de 2015, que incluyó 214 fallecidos con necropsias. Del total que fue objeto de análisis, se clasificaron por el método de Goldman 36 fallecidos a partir de 2013. Resultados las enfermedades infecciosas predominaron en todos los grupos de edades, y fueron las neumonías y la sepsis, las más frecuentes. El síndrome de disfunción múltiple de órganos fue la afección más descrita como causa directa de muerte, vinculado no solo a enfermedades infecciosas, pues también se manifestó como evento final. Se obtuvo una baja frecuencia de discrepancia diagnóstica clínico-patológica, tanto para las causas básicas de muerte como para las directas, con 13,6 % y 18,2 %, respectivamente. Según la clasificación de Goldman, en el 69,4 % de los fallecidos no hubo discrepancias entre ambos diagnósticos. Conclusión existió una correlación clínico-patológica aceptable durante el periodo de estudio. Esta variable resulta útil como patrón para la evaluación de la calidad de la asistencia médica.

ABSTRACT Background Causes of death concordance and discrepancy between the clinical and the morphological diagnoses are, indirectly, indicators of quality in hospital care, and have played a fundamental role in medical education. Objective to describe the behavior of the clinical-pathological concordance in a series of pediatric deaths. Methods an observational, descriptive study was carried out in the Cienfuegos Pediatric Hospital, from January the 1st 2000 to December the 31st, 2015, which included 214 deaths with autopsies. Of the total that was analyzed, 36 deceased from 2013 were classified by the Goldman method. Results infectious diseases predominated in all age groups, pneumonia and sepsis were the most frequent. Multiple organ dysfunction syndrome was the condition most described as a direct cause of death, linked not only to infectious diseases, as it also manifested as a final event. A low frequency of clinicopathological diagnostic discrepancy was obtained, both for the basic causes of death and for the direct ones, with the 13.6% and the 18.2%, respectively. According to the Goldman classification, the 69.4% of the deceased did not present discrepancies. Conclusion there was an acceptable clinicopathological correlation during the study period. This variable is useful as a standard for evaluating the medical care quality.

MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.

This study searched for mutations in the MLH1 and MSH2 genes in 23 unrelated Colombian families with suspected hereditary nonpolyposis colorectal cancer (HNPCC). The families were grouped according to the fulfillment of the Amsterdam II criteria or the Bethesda guidelines. We screened all probands by single-strand conformational polymorphism (SSCP) and direct DNA sequencing. Eleven families fulfilled the Amsterdam criteria II and 12 families the Bethesda guidelines. Germline mutations were detected in 11 families, which corresponds to a mutation detection rate of 48%. When only families fulfilling the Amsterdam II criteria were analyzed, the mutation detection rate rose to 82%. Only 8% of the mutation detection rate was found in families following the Bethesda guidelines. Three mutations were shared by two different families, which corresponds to a total of eight different mutations, seven of them found in the MLH1 gene and one in the MSH2 gene. We have identified four mutations that have not been previously reported to the International Collaborative Group of HNPCC. Three of these are pathogenic, a single base substitution (C > T) at codon 640, exon 17, a G deletion at codon 619, exon 16 and in the MLH1 gene and a two-nucleotide deletion (TG) at codon 184, exon 3 in the MSH2. Also, an unclassified variant, a substitution (C > G) at the codon 141, exon 5 of the MLH1, was detected.

[Detection mutations in the DNA mismatch repair genes of hMLH1 and hMSH2 genes in Colombian families with suspicion of hereditary non-polyposis colorectal carcinoma (Lynch syndrome)]. / Detección de mutaciones de los genes hMLH1 y hMSH2 del sistema de reparación de malos apareamientos del ADN en familias colombianas sospechosas de cancer colorrectal no polipósico hereditario (síndrome de Lynch).

INTRODUCTION: Colorectal cancer (CRC) is the second highest cause of cancer mortality in developed countries. In Colombia, CRC ranks fifth as a cause of cancer death. Approximately 75% of CRC appear to be spontaneous and 25% are familial, with 5% of the latter clearly hereditary. Of these, hereditary non-polyposis colorectal carcinoma (HNPCC)-or Lynch syndrome is the most important. OBJECTIVE: Herein, the two most important genes involved in Lynch syndrome, the hMLH1 and hMSH2 were analyzed for presence of mutations. MATERIALS AND METHODS: Seventeen Colombian families that fulfilled the Amsterdam II criteria or Bethesda guidelines for Lynch syndrome were selected. The of 35 exons of hMLH1 and hMSH2 genes were screened by SSCP and those with electrophoretic variants were sequenced. RESULTS: Eight germinal mutations were detected, corresponding to a 47% detection mutation rate. Six of the eight mutations have previously been reported. These consisted of the following mutations: a single base substitution at the donor splicing site of exon 9, a single base substitution (A>G) at codon 755 of the exon 17, and another single base substitution (G>A) at codon 681 of exon 18. The two novel mutations consisted of a single base substitution (C>T) at codon 640 of exon 17 of the hMLH1 gene and a two-nucleotide deletion (TG) at codon 184 of exon 3 of hMSH2 gene. In addition, two families were observed with a polymorphism in the intron 13 (G>A) nt 1558+14, of hMLH1 gene. CONCLUSIONS: This study represented the first survey for detecting mutations associated with Lynch syndrome in Colombia, and is intended to lead to the establishment of a management and prevention program.

La vacunación antineumocócica en Cuba. Retos y desafíos

El desarrollo de la Medicina ha reflejado la necesidad de prevenir enfermedades trasmisibles a través de vacunas. Después de la descripción del papel que juega el neumococo en la génesis de enfermedades, se inició una carrera destinada a prevenirlas. En el presente siglo se licenció la primera vacuna conjugada contra el Streptococcus pneumoniae para ser utilizada en niños. En Cuba, a pesar de los esfuerzos realizados, no se ha introducido la vacuna antineumocócica y desde hace más de una década se trabaja en un candidato vacunal conjugado heptavalente, actualmente en evaluación clínica avanzada. En este trabajo se hacen consideraciones al respecto.

Medicine development has shown the need of preventing transmissible diseases by means of Vaccines. After a description of the role of pneumococcus in the origin of diseases, a career towards preventing them was started. In the current century, the first conjugated vaccine was certified against Streptococcus pneumonia to be used in children. In Cuba, in spite of the efforts, the anti-pneumococcal vaccine has not been introduced and for more of a decade time scientists have been working in a heptavalent conjugated vaccine, currently in an advanced clinical evaluation. In this work, considerations in this regard are made.

Experiencia en el manejo de cáncer colorrectal en Méderi-Hospital Universitario Mayor, 2012-2014 / Experience with the management of colorectal cancer at Mederi Major University Hospital, Bogotá, Colombia 2012-2014

Introducción. El cáncer colorrectal es el tercer cáncer más diagnosticado a nivel mundial en hombres y el segundo en mujeres. En Colombia, es la cuarta causa de muerte por cáncer en ambos sexos. Es importante conocer las características de su presentación clínica en nuestro medio y la experiencia en el manejo de esta neoplasia en instituciones hospitalarias de Colombia que sirvan como referencia para analizar tendencias y resultados. Materiales y métodos. Se llevó a cabo un estudio de corte transversal de la población con diagnóstico de cáncer colorrectal atendida entre agosto de 2012 y diciembre de 2014, que corresponde al periodo de funcionamiento del Servicio de Coloproctología de Méderi-Hospital Universitario Mayor. Resultados. Se atendieron 152 pacientes, 57 % (n=87) eran mujeres. La edad promedio fue de 67 años. Se intervino quirúrgicamente el 91 % (n=138), el 61 % (n=93) por vía laparoscópica y el 25 % (n=38) se encontraron en estadio IV. Solo el 4,6 % (n=7) presentó dehiscencia de la anastomosis. El subtipo histológico más frecuente fue el adenocarcinoma moderadamente diferenciado. Discusión. Las características demográficas de la serie coinciden con las reportadas en la literatura científica. Como sucede en países similares al nuestro, esta neoplasia se diagnostica en los estadios avanzados, lo que sugiere deficiencia del sistema de tamización y diagnóstico precoz. Los resultados del manejo son similares a los reportados por otros grupos de excelencia

Introduction: Colorectal cancer is the third most diagnosed cancer in men and the second in women worldwide. In Colombia, it is the fourth leading cause of cancer death in both sexes. It is important to know the characteristics of its clinical presentation in our environment and the experience in the management of this pathology in hospital institutions in Colombia that serve as reference to analyze trends and results. Methods: A cross-sectional study of the population with the diagnosis of colorectal cancer was performed between August 2012 and December 2014, which corresponds to the period of operation of the Department of Coloproctology of Méderi-Hospital Universitario Mayor. Results: A total of 152 patients were attended, 57% (n = 87) women. The average age was 67 years. 91% (n = 138) were surgically intervened, 61% (n = 93) by laparoscopy and 25% (n = 38) were found in stage IV. Only 4.6% (n = 7) had anastomotic dehiscence. The most frequent histological subtype was moderately differentiated adenocarcinoma. Discussion: The demographic characteristics of the series coincide with those reported in the literature. As in countries similar to ours, this pathology is diagnosed in advanced stages, suggesting deficiency of screening and early diagnosis in the health system. The results of the management are similar to those reported by other groups of excellence

[Association of the morphophysiology and the ectoparasite load found in two rat populations (Rattus sp.) in La Habana province]. / Relación entre la morfofisiología y la carga de ectoparásitos en dos poblaciones de ratas (Rattus sp.) de La Habana.

INTRODUCTION: some physioecological responses from rodents may be registered through the study of morphological indexes, which is an important factor for the control of rodents. OBJECTIVES: to compare the morphophysiological variables in two rat populations and relate them to the ectoparasite loads. METHODS: this study was carried out from 2007 to 2008 in two sites of La Habana province. Specially prepared traps to catch rats alive were used. Four morphophysiological indexes were studied and then compared through a variance analysis for the two sites. RESULTS: one hundred four Rattus rattus (83.6 %) and Rattus norvegicus (16.4 %) were analyzed. The relative kidney index showed highly significant different between the rat populations. The morphophysiological indexes were lower in parasitized animals. The ecological importance and the implications of these indexes for the control of obtained results were discussed in this paper. CONCLUSIONS: the morphophysiological analysis proved that the necessary resources for the survival of these species are available, which favors that both rat sexes bear the ectoparasite load in a better way, and thus they represent parasite reservoirs and a permanent transmission risk.

Comportamiento de las intoxicaciones agudas en la unidad de cuidados intensivos pediátricos de Cienfuegos / Behavior of acute poisonings in the pediatric intensive care unit of Cienfuegos

Fundamento: Las intoxicaciones agudas representan una importante causa de morbilidad pediátrica. A pesar de ello, este tema no ha sido estudiado en los últimos años en la provincia Cienfuegos. Objetivo: caracterizar los pacientes atendidos por intoxicación aguda en la Unidad de Cuidados Intensivos del Hospital Pediátrico de Cienfuegos. Métodos: se realizó un estudio descriptivo, retrospectivo, de los pacientes atendidos por intoxicación aguda desde enero del 2006 hasta diciembre del 2015, en la Unidad de Cuidados Intensivos de Hospital Pediátrico de Cienfuegos (N=225). Los datos fueron tomados de las historias clínicas. Resultados: se observó mayor número de intoxicaciones agudas en los niños menores de cuatro años, así como las de tipo accidental (54,6 %). Predominó el sexo femenino, para el cual fuero más numerosas las intoxicaciones de origen voluntario. El 40,8 % se produjo por medicamentos, siendo la vía digestiva la más frecuente como entrada del tóxico. El porciento de complicaciones fue bajo. El uso de carbón activado, catárticos y lavado gástrico, fueron los métodos más aplicados en el manejo de los eventos. El mayor número de pacientes fue trasladado de la sala en las primeras 48 horas. Conclusión: los grupos más susceptibles a este tipo de eventos, fueron los niños menores de cuatro años, así como el sexo femenino. El origen accidental fue más frecuente, aunque con particularidades respecto al sexo y la edad.

Foundations: Acute intoxications represent an important cause of pediatric morbidity. In spite of this, this subject has not been studied in the last years in the province Cienfuegos. Objective: to characterize patients treated due to acute intoxication in the intensive care unit of the Pediatric Hospital of Cienfuegos.Methods: A descriptive, retrospective study of patients treated due to acute intoxication from January 2006 to December 2015 in the intensive care unit of the Pediatric Hospital of Cienfuegos (N = 225) was conducted. The data were taken from the medical records.Results: A higher number of acute intoxications were observed in children under four years of age, as well as those of an accidental type (54.6%). The female sex predominated, for which there were more numerous poisonings of voluntary origin. The 40.8% were produced by drugs, the digestive route being the most frequent as toxicant entry. The percentage of complications was low. The use of activated charcoal, cathartics and gastric lavage were the most applied methods in the events management. The largest number of patients was transferred from the ward within the first 48 hours.Conclusion: the most susceptible groups to this type of events were children younger than four years, as well as the female sex. The accidental origin was more frequent, although with particularities regarding sex and age.

Prevalencia de endoparásitos en roedores sinantrópicos (Rodentia: Muridae) en una localidad de La Habana, Cuba / Prevalence of endoparasites in synanthropic rodents (Rodentia: Muridae) in an area of Havana, Cuba

Introducción: los roedores sinantrópicos se encuentran estrechamente vinculados a las condiciones de vida del hombre. Algunos de sus endoparásitos juegan un papel importante en los ciclos de muchas enfermedades parasitarias, por lo que representan un riesgo para la salud pública. Objetivo: determinar la prevalencia de grupos y especies de endoparásitos en roedores sinantrópicos en una localidad de La Habana. Métodos: el estudio se realizó en la localidad Arroyo Arenas, municipio La Lisa, provincia La Habana, Cuba. En las capturas de roedores, se emplearon trampas de captura viva. Después de realizada la eutanasia y la necropsia, se tomaron muestras fecales de la última porción del intestino grueso y del recto. Las muestras se procesaron mediante diagnóstico coproparasitológico convencional. Resultados: se capturaron un total de 78 roedores identificados como Rattus rattus, Rattus norvegicus y Mus musculus. Se registraron 13 especies de parásitos, las de mayor prevalencia fueron los nematodos Nippostrongylus brasiliensis (33,3 por ciento) y Strongyloides ratti (23,1 por ciento), y el cestodo Hymenolepis diminuta (11,5 por ciento). Conclusiones: se reportan las especies de endoparásitos en los roedores sinantrópicos. Hymenolepis diminuta es la especie de mayor prevalencia entre las especies zoonóticas, lo que demuestra su circulación activa en el ambiente. Los resultados resaltan la importancia de estos roedores como vectores potenciales de las parasitosis intestinales(AU)

Introduction: the synanthropic rodents are closely associated with human living conditions. Some of their endoparasites play an important role in many cycles of parasitic diseases, thus representing a public health risk. Objectives: to determine the prevalence of groups and species of endoparasites in synanthropic rodents in an area of Havana. Methods: the research study was carried out in Arroyo Arenas, La Lisa municipality, Havana province, Cuba. Live traps were used to capture rodents. Stool samples of the last portion of the large intestine and rectum were taken after euthanasia and necropsy. The stool samples were processed by usual parasitological diagnostic techniques. Results: a total of 78 rodents identified as Rattus rattus,Rattus norvegicus and Mus musculus were captured. Thirteen species of endoparasites were recorded, being nematodes Nippostrongylus brasiliensis (33.3 percent) and Strongyloides ratti (23.1 percent), and tapeworm Hymenolepis diminuta (11.5 percent) the most prevalent. Conclusions: some species of endoparasites are reported in the synanthropic rodents. Hymenolepis diminuta was found to be the most prevalent among zoonotic species, which shows its active circulation in the environment. This type of research highlights the importance of these rodents as potential vectors for intestinal parasitic infections(AU)

La familia y la limitación del esfuerzo terapéutico en los cuidados intensivos pediátricos. Aspectos éticos / Family and Limitation of the Therapeutic Effort in Pediatric Intensive Care. Ethical Issues

El hecho de mejorar la calidad de vida de los pacientes con enfermedades incurables, así como prolongar la vida en situaciones clínicas de gravedad extrema, se ha visto aparejado al problema de delimitar cuándo no es éticamente correcto prolongar más una agonía. Casi toda la literatura médica que trata este tema, se refiere al derecho del paciente y de la familia de limitar un esfuerzo terapéutico fútil y de lo acertado de esto para evitar el sufrimiento innecesario del enfermo; sin embargo, existe poca información acerca de cómo actuar ante situaciones en que los familiares de un niño en estadio terminal, insisten en continuar con tratamientos que no tendrán resultados y que solo provocarán dolor e incremento del sufrimiento, sin contar el gasto innecesario de recursos, lo cual pone al médico en una situación difícil. En este trabajo se exponen criterios derivados de la experiencia en la unidad de cuidados intensivos pediátricos, sobre todo, relacionados con la interpretación de los conceptos que se manejan en este contexto.

The fact of improving the quality of life of patients with incurable diseases and prolonging life in extremely serious cases has been related to the problem of defining when it is not ethically correct to prolong the agony. Almost all the medical literature addressing this issue refers to the patient and family’s right to limit a futile therapy and its usefulness to avoid the unnecessary suffering of the patient. However, there is little information on how to act when the ralatives of the terminally ill child insist on continuing futile treatments that will only cause pain and increased suffering, without mentioning the unnecessary expenditure of resources, which puts the physician in a difficult position. This paper presents the criteria derived from the experience in the pediatric intensive care unit, especially those related to the interpretation of the concepts used in this context.

Bronquiolitis aguda ¿qué pacientes deben ir a la unidad de cuidados intensivos? / Acute Bronchiolitis. Which Patients Should Be Admitted to Intensive Care Units?

La bronquiolitis es la infección vírica más frecuente de las vías respiratorias bajas en la infancia; se considera la enfermedad respiratoria más severa que afecta a niños menores de dos años. De forma general, la mortalidad por bronquiolitis es baja, pero en pacientes de riesgo puede llegar a un 30 %. En el hospital pediátrico de Cienfuegos, han fallecido en los últimos 30 años 20 niños por esta causa. Las muertes por bronquiolitis a partir de 2010 hasta la fecha, representan alrededor del 4 % del total de defunciones. Esto ha motivado la toma de medidas administrativas encaminadas a disminuir las muertes por esta causa, las cuales no han resuelto el problema. El objetivo de este trabajo es plantear una serie de criterios de ingreso en la Unidad de Cuidados Intensivos para los pacientes con bronquiolitis, la cual se pone a consideración de la dirección de la institución. Estos criterios, basados en la experiencia de los autores y en evidencias científicas reflejadas en la literatura, tienen el fin de evitar la recarga excesiva del servicio con pacientes sin elementos predictivos de gravedad, y por el contrario, identificar oportunamente aquellos con probabilidad real de tener una evolución desfavorable.

Bronchiolitis is the most common viral infection of the lower respiratory tract in childhood; it is considered the most severe respiratory condition that affects children under 2 years of age. In general, mortality from bronchiolitis is low, but it can reach up to 30% in patients at risk. Twenty children have died from this condition in the pediatric hospital of Cienfuegos in the last 30 years. Bronchiolitis-related deaths account for approximately 4 % of all deaths from 2010 to date. This fact has led to the implementation of administrative measures to reduce deaths from this cause, which have not solved the problem. The aim of this paper is to present a set of criteria for admission of bronchiolitis patients to intensive care units in order to be considered by the administrators of the institution. These criteria based on the authors’ experience and scientific evidence reflected in the literature focus on preventing overcrowding of this service with patients not showing signs of serious condition, and on the contrary, timely identifying those likely to have an unfavourable outcome.

Síndrome hemolítico urémico secundario a neumonía neumocócica. Presentación de un caso / Hemolytic Uremic Syndrome Associated with Pneumococcal Pneumonia. A Case Report

El síndrome hemolítico urémico es una afección que se caracteriza por anemia hemolítica microangiopática, trombocitopenia e insuficiencia renal aguda. En su forma clásica está asociado a diarrea y tiene un buen pronóstico. Cuando tiene como base una enfermedad neumocócica invasiva, tiene una mortalidad del 25 % y la mitad de los casos que sobreviven evolucionan a una enfermedad renal terminal. Se presenta el caso un niño de 17 meses con síndrome hemolítico urémico secundario a una neumonía con empiema, que después de 10 días en anuria y sometido a diálisis peritoneal intensiva, logró una función renal normal. El éxito en el tratamiento, unido a que no se encontaron casos similares publicados en la provincia, motivó la realización de este trabajo.

Hemolytic uremic syndrome is a condition characterized by hemolytic microangiopathic anemia, thrombocytopenia and acute renal failure. In its classic form it is associated with diarrhea and it has a good prognosis. When there is an invasive pneumococcal disease as underlying condition, it has a mortality rate of 25%, and half of the surviving cases develop end-stage renal disease (ESRD). We present the case of a 17-month-old child with hemolytic uremic syndrome secondary to pneumonia with empyema, who after being anuric and in intensive peritoneal dialysis for 10 days achieved normal renal function. His successful treatment, along with the fact that there are no similar cases published in our province, encouraged us to carry out this work.