Diagnostic agreement between video capsule endoscopy and single and double balloon enteroscopy for small bowel bleeding at a tertiary care hospital in Bogota, Colombia. / Concordancia diagnóstica entre la videocápsula endoscópica y enteroscopia mono y de doble balón en la hemorragia de intestino delgado en un hospital de alta complejidad en Bogotá, Colombia.

INTRODUCTION: Video capsule endoscopy and balloon-assisted enteroscopy are complementary diagnostic methods in the study of small bowel bleeding, and different factors can affect their diagnostic yield. AIMS: To define the level of agreement between video capsule endoscopy and enteroscopy in small bowel bleeding, according to the type of lesion, in a cohort of patients at a tertiary care referral center. MATERIALS AND METHODS: A retrospective study was conducted that included 428 capsule endoscopies performed within the time frame of 2011 and 2019 at our healthcare institution. Seventy-four video capsule endoscopies, followed by enteroscopy, in 71 patients suspected of presenting with small bowel bleeding, were analyzed. RESULTS: Mean patient age was 63.9 ± 13.5 years and 42 patients were women. The two diagnostic procedures were performed. Overall diagnostic yield of positive findings between video capsule endoscopy and enteroscopy was 86.5% vs. 58.1%, respectively (p = 0.0527). Agreement between video capsule endoscopy and enteroscopy for positive pathologic findings was weak (Ik = 0.17, 95% CI: -0.0097-0.3543), but according to lesion type, it was good for inflammatory lesions (Ik = 0.71, 95% CI: 0.5182-0.9119) and moderate for angiectasias (Ik = 0.45, 95% CI: 0.2469-0.6538) and tumors (Ik = 0.40, 95% CI: 0.1217-0.6794). The results between the two methods differed in 38 patients (51.3%). There was complete intestinal capsule retention in one patient (1.4%) and active bleeding in 13 (17.6%). CONCLUSIONS: The present study showed that the two techniques had a similar overall detection rate for small bowel lesions, but the type of lesion was the main factor that could modify diagnostic agreement.

Educación nutricional en niños en edad escolar a través del Programa Nutriplato(r) / Nutritional education in school-age children through Programa Nutriplato(r)

INTRODUCCIÓN: promocionar hábitos de alimentación saludable durante la infancia es uno de los aspectos clave para fomentar un buen estado de salud a medio y largo plazo. OBJETIVOS: los objetivos principales son mejorar los hábitos alimentarios, promocionar la dieta mediterránea (DM) y prevenir y/o revertir el sobrepeso y la obesidad en niños de 3 a 12 años. MÉTODOS: el programa tiene un seguimiento de un año e incluye de tres a cinco visitas con dietistas-nutricionistas, un control telefónico y un taller práctico. Se recogen datos antropométricos, de composición corporal y de hábitos alimentarios, y se realiza educación nutricional. Se incluirán un total de 1.000 niños. RESULTADOS: hasta el momento, se han incluido 622 participantes (51,6 % niños; mediana de edad de 8,5 años). Al inicio, el 32,2 % presentaba sobrepeso u obesidad y el 38,9 % seguía una DM óptima. No se encontraron diferencias en la valoración del cuestionario Kidmed en función del sexo (p = 0,214) ni del subgrupo de índice de masa corporal (IMC) (p = 0,181), pero sí en función de la edad (p = 0,023) y del Z-score del IMC (p = 0,004), mostrando valores ligeramente menores en aquellos que presentaban una DM óptima. Por ahora, 362 participantes han realizado la visita de los seis meses, de los cuales el 61,6 % presentó una DM óptima, con diferencias estadísticamente significativas en comparación con la inicial (p < 0,0001). CONCLUSIONES: los resultados preliminares muestran la necesidad de realizar educación nutricional en los niños y sugieren que el Programa Nutriplato(r) puede ser efectivo en la mejora de hábitos alimentarios

INTRODUCTION: promoting healthy eating habits among childhood is one of the key aspects to improve medium and long-term health outcomes. OBJECTIVES: the main aims are to improve eating habits, promote the Mediterranean diet (MD) and prevent and/or reverse overweight and obesity in children from 3 to 12 years old. METHODS: the program has a one-year follow-up and includes three to five visits with registered dietitians, one telephone control and one practical workshop. Anthropometric, body composition and eating habits data are collected, and nutritional education is carried out. A total sample of 1,000 children will be included. RESULTS: until now, 622 participants have been included (51.6 % boys; median age 8.5 years). At the beginning, 32.2 % of participants were overweight or obese and 38.9 % had an adequate MD. Although no differences were found in the assessment of the Kidmed questionnaire regarding sex (p = 0.214) or body mass index (BMI) subgroups (p = 0.181), differences were found regarding age (p = 0.023) and BMI Z-score (p = 0.004), showing slightly lower values in those having and adequate MD. At the moment, 362 participants have made the six-month visit, of which 61.6 % presented an adequate MD, with statistically significant differences compared to the baseline visit (p < 0.0001). CONCLUSIONS: preliminary results show the need for nutritional education in children and suggest that Programa Nutriplato(r) can be effective in improving eating habits

Diarrea crónica como manifestación de un tumor neuroendocrino / Chronic diarrhea as a manifestation of a neuroendocrine tumor

Resumen Las neoplasias neuroendocrinas (Neuroendocrine Neoplasms, NEN) constituyen un grupo heterogéneo de neoplasias poco frecuentes, que se originan en las células endocrinas, con la capacidad de secretar aminas y polipéptidos hormonales. Las NEN de localización pancreática (pNEN) pueden ser funcionales o no funcionales. Las pNEN funcionales secretan hormonas como la gastrina, la insulina y el glucagón y otras menos frecuentes como el péptido intestinal vasoactivo (PIV), por lo que sus características sindromáticas dependen del péptido secretado. Los vipomas se manifiestan con diarrea crónica de características secretoras, que usualmente conducen a trastornos hidroelectrolíticos e incluso a complicaciones serias asociadas como la falla renal. A continuación, se describe el caso de un hombre de 37 años con diarrea crónica de 6 meses de evolución y frecuentes hospitalizaciones por trastornos hidroelectrolíticos, generados por hipocalemia severa y lesión renal aguda por deshidratación. Después de múltiples estudios, se considera el diagnóstico de una diarrea secretora por NEN funcional, secretora de PIV. Por tanto, se inicia una terapia empírica con octreotida y se logra controlar la diarrea, así como corregir el trastorno hidroelectrolítico. Además, se amplían los estudios, para documentar las pNEN tratadas mediante intervención quirúrgica, con respuesta clínica favorable y remisión completa de la sintomatología.

Abstract Neuroendocrine tumors (NETs) are a heterogeneous group of rare neoplasms that originate in endocrine cells with the ability to secrete amines and hormonal polypeptides. Pancreatic neuroendocrine tumors (PNETs) can be functional or non-functional. Functional PNETs secrete common hormones such as gastrin, insulin and glucagon and much less frequent hormones such as vasoactive intestinal peptide (VIP). Their characteristics depend on the peptide secreted. Vipomas are characterized by chronic diarrhea of ​​secretory characteristics that usually lead to hydroelectrolytic disorders and can lead to serious complications associated with renal failure. This article describes the case of a 37-year-old man who had suffered chronic diarrhea with frequent hospitalization for hydroelectrolytic disorders for six months due to severe hypokalemia and acute renal damage due to dehydration. After multiple studies, a diagnosis of secretory diarrhea due to a VIP secretory functional NET was considered. Empirical therapy with Octreotide was begun to control diarrhea and correct the hydroelectrolytic disorder. More studies of PNETS are being published. They have been treated surgically intervention with favorable clinical results and complete remission of symptoms.

Weaning practices in phenylketonuria vary between health professionals in Europe.

BACKGROUND: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. METHODS: A cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. RESULTS: Weaning started at 17-26 weeks in 85% (n = 81/95) of centres, >26 weeks in 12% (n = 11/95) and < 17 weeks in 3% (n = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n = 48/95) of centres introduced Phe containing foods at 17-26 weeks and 48% (n = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n = 56/95) and fruit (34%, n = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n = 39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n = 35/95) at infant age > 1y mainly from Southern Europe. 53% (n = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. CONCLUSIONS: Weaning strategies vary throughout European PKU centres. There is evidence to suggest that different infant weaning strategies may influence longer term adherence to the PKU diet or acceptance of Phe-free L-amino acid supplements; rendering prospective long-term studies important. It is essential to identify an effective weaning strategy that reduces caregiver burden but is associated with acceptable dietary adherence and optimal infant feeding development.

Early feeding practices in infants with phenylketonuria across Europe.

BACKGROUND: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. METHODS: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. RESULTS: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, ≥26 weeks in 12% and < 17 weeks in 3%. DISCUSSION: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding development.

Characterization of near-terahertz complementary metal-oxide semiconductor circuits using a Fourier-transform interferometer.

Optical methods for measuring of the emission spectra of oscillator circuits operating in the 400-600 GHz range are described. The emitted power from patch antennas included in the circuits is measured by placing the circuit in the source chamber of a Fourier-transform interferometric spectrometer. The results show that this optical technique is useful for measuring circuits pushing the frontier in operating frequency. The technique also allows the characterization of the circuit by measuring the power radiated in the fundamental and in the harmonics. This capability is useful for oscillator architectures designed to cancel the fundamental and use higher harmonics. The radiated power was measured using two techniques: direct measurement of the power by placing the device in front of a bolometer of known responsivity, and by comparison to the estimated power from blackbody sources. The latter technique showed that these circuits have higher emission than blackbody sources at the operating frequencies, and, therefore, offer potential spectroscopy applications.

Spontaneous retroperitoneal hemorrhage in dialysis: a presentation of 5 cases and review of the literature.

BACKGROUND: Spontaneous retroperitoneal hemorrhage (SRH) is a rare but potentially fatal entity. Despite published case reports of SRH in dialysis, little systematic information is available. METHODS: Report of 5 cases and review of MEDLINE database from 1971 until 2008. RESULTS: Incidence of SRH in our unit was 0.86 cases per 100 patients; annual incidence rate 8/10,000 patients. We identified 34 publications, comprising 55 cases. The existing cases and the 5 reported were analyzed: 74.5 % male, average age 53.3 years (range 27-78), average time on dialysis 7.1 years (range 3 weeks-27.5 years), 95% on hemodialysis and 5% on peritoneal dialysis. There was significant heterogeneity in clinical presentation. The kidney was the most commonly reported origin (87.8%), and acquired cystic kidney disease (ACKD) was the most frequent underlying cause. 91.8% received some kind of anticoagulation. Treatment was conservative, included angioembolization or surgery in 33.3%, 17.6% and 49% of the cases respectively. Mortality rate was 18.3%. CONCLUSIONS: More than 85% of SRH in dialysis had a renal cause, ACKD being predominant. The complication occurs mainly in the HD modality, possibly in relation to anticoagulation. There is no evidence that screening of ACKD is of benefit predicting SRH. Therefore, awareness of ACKD as a manifestation of ESRD patients and its risk of bleeding is necessary. Because of the summation of risk factors that appears in the population on dialysis, SRH should be considered in the differential diagnosis of unexplained pain before drop in blood pressure or hematocrit occurs.

In vitro leukemic cell differentiation and WT1 gene expression.

Cell differentiation and four WT1 isoforms were assessed in CD34(+) cells from patients with acute myelogenous leukemia in presence or absence of recombinant human GM-CSF and G-CSF, on days 0, 10 and 20 of culture. We found that WT1 isoforms expression was consistently higher in AML-derived CD34+ cell-enriched cell fractions, as compared to their normal counterparts, and interestingly, in both cases, cells had differentiation towards the myeloid lineage with WT1 expression different patterns. This data suggest that WT1 expression seems to be modulated by the presence of cytokines, especially on day 20 of culture.

[Guidelines on hemodialysis-associated viral infections]. / Guías sobre enfermedades víricas en hemodiálisis (HD).

The viric infections influence morbi-mortality in Chronic kidney Disease patients in hemodialysis therapy and can affect to the Staff of the Units. The guides considered the most relevant virus at the present moment: C Virus, B Virus and HIV. To prevent horizontal nosocomial transmission is necessary the observance always the universal precautions in the HD units, although sometimes can appeared seroconversions and epidemic bud when exist a break of these. Is analyzed different situations with special focus in units for acute patients. The following steps under the suspicious of the epidemic bud appeared in one of the annexes together with legislation according to this case. Respect to the staff in every one of the virus is shown prevention patterns, serologic markers to perform when an accident with infected blood occur, also is considered when treatment is indicated. The guides considered too the conditions necessary for include these patients on waiting list for kidney transplantation.

Guías sobre enfermedades víricas en hemodiálisis (HD) / Guidelines on hemodiaglysis-associated viral infections

Las infecciones víricas influyen en la morbi-mortalidad de los pacientes con Enfermedad renal crónica (ERC) en Hemodiálisis y pueden afectar al personal de las unidades han considerado los virus con mas relevancia en el momento actual: Virus B, Virus C y VIH. Las guías se han desarrollado con los mínimos exigibles, dejando abierta la posibilidad de actuación hacia mayores logros en el diagnóstico sexológico, ,tratamiento (cuando, como y cuanto tiempo), y prevención de infecciones víricas (vacuna en VHB) así como políticas de aislamiento según las características de los virus. Para prevenir la vía de transmisión nosocomial horizontal deben cumplirse las Precauciones Universales siempre, no obstante se considera la posibilidad de que en ocasiones puedan no cumplirse y por ello pueda aparecer la seroconversión e incluso el brote epidémico. Se analizan situaciones diferentes con eSpecial interés en unidades de agudos. Los pasos a seguir bajo la sospecha de aparición de un brote epidémico quedan reflejados en uno de los anexos así como la legislación vigente a este respecto. Con respecto al personal en cada uno de los virus se habla de criterios de prevención, marcadores a realizar ante un accidente con sangre infectada y cuando tratar. También se considera las indicaciones de inclusión en lista de trasplante renal para los pacientes infectados en los 3 virus. The Guides have developed with the minimun required, living open the possibilities of actuation the best adquiries in the serologic diagnose, treatment (when, how and how long) and prevention of the viric infections (HBV vaccination) as isolation politics according virus characteristics (AU)

The viric infections influence morbi-mortality in Chronic kidney Disease patients in hemodialysis therapy and can affect to the Staff of the Units. The guides considered the most relevant virus at the present moment: C Virus, B Virus and HIV. To prevent horizontal nosocomial transmission is necessary the observance always the universal precautions in the HD units, althought sometimes can appeared seroconversions and epidemic bud when exist a break of these. Is analyzed different situations with special foccus in units for acute patients. The following steps under the suspicius of the epidemic bud appeared in one of the annexes together with legislation according to this case Respect to the staff in every one of the virus is shown prevention paterns, serologic markers to perform when an accident with infected blood occur, also is considered when treatment is indicated. The guides considered too the conditions necessary for include these patients on waiting list for kidney transplantation (AU)

(AC)n dinucleotide repeat polymorphism in 5' beta-globin gene in native and Mestizo Mexican populations.

Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated element is the most frequent in the human genome. In this paper, the (AC)n repeated element located in the 5' flanking region of the beta-globin gene was studied by single-strand conformation polymorphism (SSCP). Four ethnic Mexican groups (Mixteca, Nahua, Otomí, Purépecha) and a Mestizo population were analyzed. We observed three alleles, A [(AC)16, B [(AC)14], and C [(AC)18], with a frequency of between 68.2% and 86.9%, 13.1% and 18.2%, and 6.7% and 13.7%, respectively. Allele C was present only in Purépecha and Mestizo groups. The absence of this allele in the other ethnic groups studied suggests that there is low genetic admixture of Purépecha and that this is a relatively isolated population. However, it could be that the C allele occurs in low frequencies in the other groups as a result of small sample sizes. The (AC)n repeat polymorphism in the beta-globin gene has not been previously studied in Amerindian populations.

Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: the use of new designed primers for the analysis of the major deletion "hot spot" region.

We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the exons. Most of the alterations (87%) were clustered in exons 44-52, this being the highest percentage reported until now. In order to improve the molecular diagnosis in the Mexican population, we designed a new multiplex assay to PCR amplify exons 44-52. This assay allowed for the identification of a greater number of deletions in this region compared with the 9 and 5-plex assays previously described and to determine most of the deletion end boundaries. This is a reliable alternative for the initial screening of the DMD patients in the Mexican population.

Carrier detection in Duchenne and Becker muscular dystrophy using dinucleotide repeat polymorphisms. A study in Mexican families.

In order to improve carrier detection of Duchenne and Becker muscular dystrophy, dinucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/ BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family.

Molecular studies of Mendelian disorders, embryonic neoplasias, and polymorphisms in selected samples of the general population. A contribution to the genetic characterization of the Mexican population.

Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia, retinoblastoma, and nephroblastoma. The usefulness of these methodologies in the precise identification of mutational changes, in carrier detection and in the understanding of neoplastic transformations, as well as its applications in genetic counseling and prenatal diagnosis, are discussed. In addition, genetic polymorphisms in the beta globin gene cluster and in mtDNA were investigated. All these studies, the first performed in our population, contribute to establish the genetic origin and to a better characterization of the Mexican population.

Analysis of dystrophin gene deletions in patients from the Mexican population with Duchenne/Becker muscular dystrophy.

Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The percentage of deletions was 52.5%, and the majority of them (86.3%) were located at the hot spot deletion region which encompasses exons 44-55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity.

Caracterización somatotípica de jóvenes estudiantes de Valparaíso / Somatotropic characterization of young students in Valparaíso

La variabilidad del físico humano, es un hecho indiscutible, diferentes autores han trabajado en la cuantificación de las formas corporales para lograr una clasificación de los individuos, con diferentes finalidades. De acuerdo a lo establecido en la clasificación de Sheldon (1940); Heath-Carter (1975) desarrollan el Método Antropométrico del Somatotipo. Definen al somatotipo como "una descripción de la conformación morfológica presente" que se indica en un rango tri-numeral sín límite máximo. Se les llama también como componente I a la endomorfía; II a la mesomorfía y III a la ectomorfía. El objetivo del presente trabajo es conocer la variabilidad de los somatotipos de estudiantes chilenos de Educación Media de ambos sexos, cuyas edades fluctúan entre los 14 y 20 años. Se aplicó el método antropométrico de Heath-Carter a 190 niños y 91 niñas, los cuales se agruparon por edades y sexos. Se encontraron diferencias entre los somatotipos de los adolescentes varones y damas. En los varones hay predominio en la mesomorfía y en las damas predomina la endomorfía. Además el somatotipo masculino presenta diferencias significativas con respecto a la edad, a diferencia del somatotipo de las mujeres que presenta una menor variabilidad. Las comparaciones con muestras extranjeras presentaron semejantes patrones al somatotipo de los valores de la muestra chilena