Calidad del sueño y consumo de inhibidores del sueño en estudiantes de medicina / Sleep quality and sleep inhibitors consumption in medical students

Introducción: Los desórdenes del sueño son un problema creciente en las sociedades occi-dentales afectando el rendimiento diurno, tanto en el ámbito académico como laboral. Ade-más en los últimos años, el consumo de inhibidores del sueño por estudiantes universita-rios ha ido en aumento. El objetivo de este estudio es conocer la calidad del sueño en los estudiantes de medicina de Universidad San Sebastián, junto con determinar la prevalencia de trastornos del sueño y consumo de psicoestimulantes en esta población. Material y Métodos: Estudio de corte transversal en 65 estudiantes de medicina de tercer año durante el año 2012. Se midió el índice de calidad del sueño de Pittsburgh, junto con las horas de sueño y la frecuencia consumo de sustancias psicoactivas en el último mes. Resultados: Un 83% de los sujetos fueron definidos como malos dormidores, con disfunción leve del sueño. Un 53,8% de los estudiantes duermen menos de 6 horas diarias en promedio. Se consignó que un 41,5% consumió fármacos psicoestimulantes y/o bebidas energéticas en el último mes y su prevalencia de consumo fue mayor en malos dormidores. Un 64,6% consumió al menos una taza de café diaria, este consumo prevalece más en los malos dormidores que en los buenos dormidores. Un 27,7% de los sujetos refirió consumir al menos un cigarrillo al día. Discusión: Se observó una alta prevalencia de mala calidad del sueño y también en el consumo de psicoestimulantes que podrían afectar el buen dormir, teniendo consecuencias para el desempeño diario y la salud de estos estudiantes.

Introduction: Sleep disorders are an increasing health problem in occidental societies, affecting daytime functioning both the academic area such as labor. The consumption of Sleep inhibitors by university students has increased. The objective is to know about sleep quality in medical students of San Sebastian's University and determine the prevalence of sleep disorders and psychostimulant use in this population. Material and method: Cross-sectional study. Study group: 65 third year medical students 2012 of San Sebastian's University. It was measured Pittsburgh ́s Sleep Quality Index, sleeping hours, psychoactive substances consumption in the last month. Results: 83% of the subjects were defined as poor sleepers, with mild sleep dysfunction. 53.8% of the students sleep less than 6 hours per day on average. 41.5% consumed psychostimulants and/or energy drinks and the consumption prevalence was higher in poor sleepers. 64.6% consumed at least one cup of coffee a day, consumption is more prevalent in poor sleepers than in good sleepers. 27.7% of subjects reported consuming at least one cigarette a day. Discussion: A very high prevalence of poor sleep quality and consumption of psychoestimulants was observed, this could affect the sleep quality, having consequences for daily performance and health of these students.

Guía de práctica clínica para el diagnóstico y tratamiento del síndrome de intestino irritable en población adulta / Clinical Practice Guideline for the Diagnosis and Management of Adult Patients with Irritable Bowel Syndrome

Objetivo: diseñar una guía de práctica clínica para disminuir la variabilidad injustificada en el diagnóstico y tratamiento de los pacientes mayores de 18 años con síndrome de intestino irritable en Colombia mediante un diagnóstico orientado y unas pautas terapéuticas establecidas. Materiales y métodos: el equipo multidisciplinario que conformó el presente Grupo Desarrollador contó con apoyo de la Asociación Colombiana de Gastroenterología, el Grupo Cochrane ITS y el Instituto de Investigaciones Clínicas de la Universidad Nacional de Colombia. Se desarrollaron preguntas clínicas relevantes y se realizó la búsqueda de guías nacionales e internacionales en bases de datos especializadas. Las guías existentes fueron evaluadas en términos de calidad y aplicabilidad; ninguna de ellas cumplió el criterio de adaptación, por lo que se decidió desarrollar una guía de novo. El Grupo Cochrane realizó la búsqueda sistemática de la literatura. Las tablas de evidencia y recomendaciones fueron realizadas usando la metodología GRADE. Resultados: se desarrolló una guía de práctica clínica basada en la evidencia para el diagnóstico y tratamiento farmacológico de los pacientes mayores de 18 años con síndrome de intestino irritable en Colombia. Conclusiones: se establecieron los criterios clínicos y signos de alarma, las pruebas diagnósticas y las aproximaciones terapéuticas de acuerdo con el síntoma predominante en los pacientes con síndrome de intestino irritable en Colombia.

Objective: To design a clinical practice guideline to reduce unwarranted variation in the diagnosis and treatment of patients over 18 years old with irritable bowel syndrome in Colombia through targeted diagnosis and a treatment guidelines established. Materials and Methods: This guide was developed by a multidisciplinary team with the support of the Colombian Association of Gastroenterology, Cochrane STI Group and Clinical Research Institute of the Universidad Nacional de Colombia. Relevant clinical questions were developed and the search for national and international guidelines in databases was performed. Existing guidelines were evaluated quality and applicability. No guideline met the criteria for adaptation, so the group decided to develop the guideline de novo. Systematic literature searches were conducted by the Cochrane Group. The tables of evidence and recommendations were made based on the GRADE methodology. Results: An evidence-based Clinical Practice Guidelines for the diagnosis and treatment of irritable bowel syndrome in patients over 18 years old was developed for the Colombian context. Conclusions: the clinical criteria and warning signs, diagnostic tests and therapeutic approaches were established in accordance with the predominant symptom in patients with irritable bowel syndrome in Colombia.

Etiología de la neumonía adquirida en la comunidad en un hospital de cuarto nivel en Bogotá: estudio descriptivo de un registro institucional durante los años 2007 a 2012 / Etiology of community acquired pneumonia in a fourth level attention hospital in Bogotá: Descriptive study of an institutional record during 2007 to 2012

Introducción: La neumonía adquirida en la comunidad (NAC) puede ser causada por diferentes gérmenes. En Latinoamérica la principal etiología es Streptococcus pneumoniae , aislado en aproximadamente el 35-40% de los casos. Objetivos: Describir las características de los pacientes hospitalizados con diagnóstico de NAC durante 6 años en la Fundación Santa Fe de Bogotá, los principales agentes etiológicos y el patrón de susceptibilidad antibiótica en los microorganismos más importantes. Materiales y métodos: Estudio descriptivo retrospectivo que incluyó a todos los pacientes mayores de 16 años hospitalizados con diagnóstico de NAC. Se revisaron variables demográficas y clínicas, presencia de pruebas diagnósticas para determinar etiología y los microorganismos aislados. Resultados: Se aisló un germen en 130 pacientes, siendo los más frecuentes Streptococcus pneumoniae , Haemophilus influenzae y Staphylococcus aureus . Encontramos mayor frecuencia de microorganismos atípicos en menores de 65 años y en pacientes sin comorbilidades, y de enterobacterias en mayores de 65 años y en pacientes con comorbilidades. Discusión: Los principales gérmenes aislados son similares a los reportados en otras series. Llama la atención la frecuencia de Staphylococcus aureus y la presencia de SAMR. Es importante conocer la etiología local para adaptar las guías de manejo de acuerdo a los gérmenes encontrados, la susceptibilidad a los antibióticos y la disponibilidad de recursos.

Introduction: Community acquired pneumonia (CAP) can be caused by different microorganisms. In Latin America the main cause is Streptococcus pneumoniae isolated in about 35-40% of cases. Objectives: To describe the characteristics of patients admitted with diagnosis of CAP at Fundación Santa Fe de Bogotá during a 6 years period, the etiological agents isolated and the pattern of antibiotic susceptibility in the most frequent microorganisms. Materials and methods: Retrospective descriptive study; all patients older than 16 years admitted with diagnosis of CAP were included. Demographic and clinical variables, diagnostic tests to evaluate etiology and the microorganisms isolated were reviewed. Results: At least one microorganism was isolated in 130 patients, being the most common Streptococcus pneumoniae , Haemophilus influenzae and Staphylococcus aureus . We found higher frequency of atypical microorganisms in patients under 65 years and without comorbidities, while enteric gram-negative rods were more frequent in patients with comorbidities or older than 65 years. Discussion: Our most common etiologies are similar to those reported in other series. Special attention is drawn to Staphylococcus aureus as one of the major etiologies and the presence of MRSA. It is important to know the local etiology to adjust guidelines according to the isolated microorganisms, antibiotics susceptibility and availability of resources.

Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis.

MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MUTYH. Owing to potential limitations in the MAP testing strategy and testing criteria, it is possible that MAP is being under-identified both genotypically and phenotypically. To determine whether full sequencing of MUTYH would increase clinical sensitivity over a founder mutation (FM) strategy, a retrospective analysis of two datasets from a commercial clinical laboratory was performed. The first cohort contained 1522 individuals who received MUTYH analysis for two FMs with subsequent full-gene sequencing. Eighty-five biallelic individuals were identified; 47 carried two FMs, 17 carried one FM and one mutation identified on full sequencing, and 21 carried biallelic mutations identified only on full sequencing. The second cohort contained 921 patients with colorectal cancer <50 years and <10 reported colorectal adenomas who had undergone MUTYH mutation testing. In this cohort, 19 of 921 (2.1%) individuals were identified as biallelic MUTYH carriers. Of these, 13 did not have a personal or family history of polyps and would not have met guidelines for MUTYH testing. These results suggest that individuals with biallelic MUTYH mutations are under-ascertained based on both genotype and phenotype under current standard testing practices.

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.

Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly increased our ability to acquire large amounts of genetic data. The interpretation of this data remains challenging, as the clinical significance of genetic variation detected in the laboratory is not always clear. Although regulatory agencies and professional societies provide some guidance regarding the classification, reporting, and long-term follow-up of variants, few protocols for the implementation of these guidelines have been described. Because the primary aim of clinical testing is to provide results to inform medical management, a variant classification program that offers timely, accurate, confident and cost-effective interpretation of variants should be an integral component of the laboratory process. Here we describe the components of our laboratory's current variant classification program (VCP), based on 20 years of experience and over one million samples tested, using the BRCA1/2 genes as a model. Our VCP has lowered the percentage of tests in which one or more BRCA1/2 variants of uncertain significance (VUSs) are detected to 2.1% in the absence of a pathogenic mutation, demonstrating how the coordinated application of resources toward classification and reclassification significantly impacts the clinical utility of testing.

Conización leep en NIE de alto grado en una institución privada de salud / Leep conization for high degree intraepithelial neoplasias

Antecedentes: La conización cervical del cuello uterino es considerada el tratamiento de elección de las neoplasias intraepiteliales de alto grado. Objetivo: Analizar los resultados del tratamiento de esta patología mediante conización Leep. Método: Se revisan los antecedentes y biopsias de 145 pacientes con diagnóstico histológico de neoplasia intraepitelial II y III tratadas con conización cervical por asa Leep en la Unidad de Patología del Tracto Genital Inferior de Clínica Dávila desde el 1 de junio de 2002 al 31 de mayo de 2008. Resultados: Hubo una correlación colpo-biópsica de 80 por ciento (116/145) para Lie de alto grado. Hubo borde positivo en 75 pacientes (51,7 por ciento) y negativo en 70 (48,3 por ciento). Fue necesario un segundo tratamiento en 5 pacientes (3,4 por ciento); en 3 casos por recidivas y en 2 por lesiones invasoras. El 89 por ciento permanece en seguimiento, comprobándose que la totalidad de estas ha tenido un tratamiento considerado satisfactorio. Conclusión: Nuestros resultados confirman que las lesiones cervicales de alto grado deben ser tratadas por métodos escisionales preferentemente, siendo la conización con asa Leep el método de elección por su facilidad de realización, bajo costo de insumos y puede ser realizado sin grandes requerimientos de infraestructura.

Background: The cervical conización of the uterine cervix is considered the treatment of election of high degree intraepithelial neoplasias. Objective: To analyze the results of treatment of this pathology by Leep Conization. Method: The antecedents and biopsies of 145 patients with histological diagnosis of intraepithelial II and III neoplasia, treated with cervix Conization Leep at Lower Genital Tract Unit of Davila Clinic from June first 2002 to May 31 2008 are reviewed. Results: There was a colpo-biopsy correlation of 80 percent (116/145) for high degree CIN. There was positive edge in 75 patients (51.7 percent) and negative in 70 (48.3 percent). A second treatment in 5 patients were necessary (3.4 percent); in 3 cases by recurrences and 2 by invasive lesions. 89 percent remain in control, verifying itself that the totality of these has had a satisfactory considered treatment. Conclusion: Our results confirm that the high degree cervical lesions must preferably be treated by excision methods, being the Leep Conization the method of election by their facility of accomplishment, low cost and can be made without great infrastructure requirements.

Valoración de factores de riesgo asociados a los hábitos de manejo y exposición a organofosforados y carbamatos en habitantes y trabajadores de la vereda de Bateas del municipio de Tibacuy, Cundinamarca, Colombia / Valuation of risk factors associated to the handling and exposure habits of organophosphates and carbamates in workers and inhabitants of the Bateas District, Municipality of Tibacuy, Cundinamarca, Colombia

El uso de plaguicidas en la agricultura ha sido una determinante para el control de plagas. Sin embargo, estos agentes químicos empleados de forma inadecuada, especialmente por parte de los agricultores, se refleja en los efectos nocivos sobre el cuerpo humano; como intoxicación y muerte, especialmente en países subdesarrollados. El presente trabajo tuvo como objetivo valorar los factores de riesgo asociados a los hábitos de manejo y exposición a plaguicidas organofosforados y carbamatos mediante un cuestionario estructurado, la medición de la actividad colinesterásica, y parámetros hematimétricos en trabajadores y habitantes de la vereda de Bateas del Municipio de Tibacuy, Cundinamarca, Colombia, relacionados con la presencia de intoxicación. Se encontró que los factores de riesgo relacionados más sobresalientes fueron el uso inadecuado de elementos de protección personal y la falta de evacuación previa a la fumigación. El 100% de la población participante en el estudio tuvo niveles bajos de actividad de colinesterasa; entre 0,056 pH/hora y 0,445 pH/hora en los hombres y 0,052 pH/hora a 0,264 pH/hora en las mujeres, con un valor medio de 0,148 pH/hora (valor de referencia: hombres de 0,855 a 0,881 pH/hora, mujeres de 0,836 a 0,859 pH/hora). Los estudios poblacionales epidemiológicos son importantes, porque permiten valorar e identificar cualquier fenómeno que sea un riesgo para el bienestar de una población.

Adenofibroma metanéfrico asociado a carcinoma papilar de células renales / Metanephric Adenofibroma Associated with Papillary Renal Cell Carcinoma

El adenofibroma metanéfrico es un tumor renal bifásico estromal-epitelial infrecuente, que ocasionalmente se asocia a carcinoma papilar de células renales. Se describe el caso de una niña con un cuadro clínico de cuatro años de evolución de hematuria intermitente, a quien se le diagnosticó, en una biopsia renal izquierda por trucut, un tumor de Wilms con componente estromal y epitelial, sin evidencia de anaplasia. Posteriormente, en el producto de la nefrectomía izquierda, realizada en el Instituto Nacional de Cancerología, se le diagnosticóadenofibroma metanéfrico asociado a un carcinoma papilar de células renales.

Evaluación ultrasonográfica del piso pélvico / Ultrasonographic evaluation of pelvic floor

The utility of 2D and 3D ultrasound, in the evaluation of the pelvic floor is shown. The images of urethra and bladder in the anterior commpartement, and its use in the pre and post surgical evaluation of the urine incontinence and in the posterior commpartement, the anal sphincter and the posterior wall.

Se describe la utilidad de la ultrasonografía, 2D y 3D, en la evaluación del piso pélvico. La visión de uretra y vejiga, en el compartimiento anterior, su utilidad en el pre y post operatorio de la incontinencia de orina y en el compartimiento posterior, el esfínter anal y la pared posterior.

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.

CASE REPORT: We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic-clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient's degree of social relatedness with her family members. DISCUSSION: An early diagnosis of Rett syndrome allows families to maximize utilization of existing treatment modalities and seek appropriate genetic counseling and prenatal diagnoses. This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome.

Juvenile onset Huntington disease resulting from a very large maternal expansion.

We report a 5(1/2)-year-old girl with a maternal family history of Huntington disease (HD), who presented clinically with unbalanced gait, impaired speech, and increasing difficulty with fine motor control. Onset of symptoms began at the age of 3(1/2) years. The suspected diagnosis of juvenile HD, based upon her family history, was confirmed by DNA analysis. At age 7, the patient died secondary to complications of her underlying disorder. Juvenile-onset Huntington disease is uncommon, predominantly transmitted by fathers and is always associated with very large expansions of the CAG repeat. Interestingly, this patient inherited a large CAG size expansion from her mother, who herself had symptoms of HD at the age of 18. Molecular analysis revealed that the mother had 70 CAG repeats whereas our patient had approximately 130 CAG repeats. This is the largest reported CAG expansion from a maternal transmission that has been confirmed molecularly and it demonstrates that very large expansions can also occur through the maternal lineage.

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.

PURPOSE: We expect that the mutation panel currently recommended for preconception/prenatal CF carrier screening will be modified as new information is learned regarding the phenotype associated with specific mutations and allele frequencies in various populations. One such example is the I148T mutation, originally described as a severe CF mutation. After implementation of CF population-based carrier screening, we learned that I148T exists as a complex allele with 3199del6 in patients with clinical CF, whereas asymptomatic compound heterozygotes for I148T and a second severe CF mutation were negative for 3199del6. METHODS: We performed reflex testing for 3199del6 on 663 unrelated specimens, including I148T heterozygotes, compound heterozygotes, and a homozygous individual. RESULTS: Less than 1% of I148T carriers were also positive for 3199del6. Excluding subjects tested because of a suspected or known CF diagnosis or positive family history, 0.6% of I148T-positive individuals were also positive for 3199del6. We identified 1 I148T homozygote and 6 unrelated compound heterozygous individuals with I148T and a second CF variant (2 of whom also carried 3199del6). In addition, one fetus with echogenic bowel and one infertile male were heterozygous for I148T (3199del6 negative). CONCLUSIONS: Reflex testing for 3199del6 should be considered whenever I148T is identified. Reflex testing is of particular importance for any symptomatic patient or whenever one member of a couple carries a deleterious CF mutation and the other member is an I148T heterozygote. Further population data are required to determine if I148T, in the absence of 3199del6, is associated with mild or atypical CF or male infertility.

Experiencia con sling sub-uretral libre de tensión transobturador (TOT) en el tratamiento de la incontinencia urinaria femenina / Experience using sling tension-free suburethral transobturator(TOT)for treatment of female urinary incontinence

Considerando los buenos resultados sumados a la experiencia adquirida en el uso de un sling sintético libre de tensión por vía retropúbica y los alentadores reportes publicados a partir de la experiencia de Delorme en Francia en 2001, referentes a la colocación del sling a través del orificio transobturador para el tratamiento de la incontinencia de orina femenina, desarrollamos esta técnica con algunas modificaciones y la empleamos en un grupo de 20 pacientes que consultaron por incontinencia urinaria en Clínica Dávila entre noviembre de 2003 y agosto de 2004. No hubo complicaciones en este grupo, todas las pacientes se mantienen continentes en el período de seguimiento y manifiestan satisfacción con los resultados.

Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15.

We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern when chromosomal rearrangements involving chromosome 15 are identified. In the present case, UPD studies showed normal biparental inheritance. In contrast to the fact that most homologous acrocentric rearrangements are isochromosomes, these results indicate postzygotic formation of a Robertsonian translocation between biparentally inherited chromosomes 15.

Angiotensinogen and endothelial nitric oxide synthase gene polymorphisms among Hispanic patients with preeclampsia.

OBJECTIVE: We sought to establish an association between preeclampsia and the methionine to threonine polymorphism at amino acid residue 235 (Met235Thr) in angiotensinogen in a Hispanic population. We looked for a relationship between this allele and the allele in the endothelial nitric oxide synthase gene (NOS3) that produces the A form (NOS3*A) with respect to preeclampsia. STUDY DESIGN: Clinical data were collected from 87 patients with preeclampsia and 53 control subjects. Patients and controls were genotyped for the angiotensinogen polymorphism allele (AGT*T) and the NOS3*A polymorphism. We then compared patients with preeclampsia and control subjects and investigated disease severity within the preeclampsia group as a function of genotype. RESULTS: The AGT*T allelic frequencies among patients with preeclampsia and control subjects were 0.72 and 0.70, respectively (P =.84). The blood pressure of patients with an AGT*T allele who also carried a NOS3*A allele was higher at earlier gestational ages (r = -0.052; P =.02). Analysis suggested that the systolic blood pressure differences were due to gestational age effects and the presence of a NOS3*A allele (P <.10). CONCLUSION: The AGT*T allele was not associated with the development of preeclampsia. Independently of the presence of an AGT*T allele, the NOS3*A allele was associated with a higher blood pressure at an earlier gestational age.

Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.

A 55-bp deletion in exon 9 of the glucocerebrosidase gene was identified in a 28-year-old male affected with Gaucher disease. The diagnosis was established during an evaluation for mild pancytopenia and was confirmed by bone marrow histology and biochemical studies. The patient is of German ancestry. Initial DNA testing indicated homozygosity for the N370S mutation. However, subsequent testing of the patient's parents suggested that the patient and his mother carried a null allele by our assay for N370S. Further molecular studies identified a 55-bp deletion in exon 9 of the glucocerebrosidase gene (g.6767_6822del55). This deletion has been previously reported in a patient with severe Gaucher disease (1), and is present in the glucocerebrosidase pseudogene. In the previously reported case, initial DNA testing also suggested the genotype N370S/N370S, but further mutation studies were undertaken because clinical severity was greater than expected for that genotype. In contrast, our patient has an unusually mild clinical course. Thus, clinical severity cannot be reliably used to determine when to test for the presence of the 55-bp deletion. While the 55-bp deletion is not reported to be common, its actual frequency may be underestimated since it eludes detection by many standard clinical assays for Gaucher disease. This report points out the need to consider this deletion mutation which may cause erroneous interpretation of results in existing assays for the common mutations N370S and L444P. Furthermore, the importance of recommending parental analysis for individuals who test homozygous for autosomal mutations is highlighted.