Phenotypic spectrum of neonatal CHARGE syndrome. / Espectro fenotípico de Síndrome de CHARGE neonatal.

INTRODUCTION: CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 gene. OBJECTIVE: To describe the broad pheno typic spectrum of neonatal CHARGE syndrome, heterozygous for the CHD7 gene, and the usefulness of genome sequencing in diagnostic confirmation, considering differential diagnoses. CLINICAL CASE: 34-week preterm newborn, with severe prenatal history of polyhydramnios, increased nuchal trans- lucency, and hyperechogenic cardiac focus, with a TORCH study that ruled out congenital infection. Peripheral facial paralysis, choanal atresia, multiple dysmorphisms, congenital heart disease, and bilateral retinochoroidal coloboma were observed at birth. The neuroimaging study showed hypo plasia of the cochlea and bilateral semicircular canals, and pontocerebellar hypoplasia. The auditory evoked potentials showed deep right-sided sensorineural hearing loss and left anacusis. The patient developed hypocalcemia and immunological alterations, confirming hypoparathyroidism and thy mus hypoplasia. The karyogram was normal and 22q11.2 microdeletion was excluded through mul tiplex ligation-dependent probe amplification (MPLA). A pathogenic variant in the CHD7 gene was detected that confirmed the clinical suspicion of CHARGE syndrome. CONCLUSIONS: The overlap of clinical characteristics of CHARGE syndrome requires molecular genetic confirmation, considering differences in evolution, therapies, and recurrence risks with other genetic syndromes.

Espectro fenotípico de Síndrome de CHARGE neonatal / Phenotypic spectrum of neonatal CHARGE syndrome

INTRODUCCIÓN: El Síndrome de CHARGE (SCH), es un síndrome genético de amplia variabilidad fenotípica, de he rencia autosómica dominante, causado por variantes patogénicas en el gen CHD7. OBJETIVO: Descri bir el amplio espectro fenotípico de un SCH neonatal, heterocigoto para el gen CDH7 y la utilidad de la secuenciación en la confirmación diagnóstica, considerando los diagnósticos diferenciales. CASO CLÍNICO: recién nacida prematura de 34 semanas, con antecedentes prenatales de polihidroamnios severo, translucencia nucal aumentada y foco hiperecogénico cardiaco, con estudio de TORCH antenatal, que descartó infección congénita. Al nacer se pesquisó parálisis facial periférica, atresia de coanas, dismorfias múltiples, cardiopatía congénita y coloboma retinocoroideo bilateral. Las neuroimágenes mostraron hipoplasia de cóclea y de canales semicirculares bilaterales e hipoplasia pontocerebelosa. Los potenciales evocados auditivos mostraron hipoacusia sensorioneural profunda derecha y anacusia izquierda. Evolucionó con hipocalcemia y alteraciones en la inmunidad, confirmándose un hipoparatiroidismo e hipoplasia de timo. El cariograma fue normal y la amplificación de sondas dependiente de ligandos múltiples (MLPA) excluyó microdeleción 22q11.2. La sospecha clínica de SCH se confirmó con la detección de una variante patogénica en el gen CHD7. CONCLUSIONES: La su perposición de características clínicas del SCH con otros síndromes genéticos requiere confirmación genética molecular considerando diferencias en evolución, terapias y riesgos de recurrencia.

INTRODUCTION: CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 gene. OBJECTIVE: To describe the broad pheno typic spectrum of neonatal CHARGE syndrome, heterozygous for the CHD7 gene, and the usefulness of genome sequencing in diagnostic confirmation, considering differential diagnoses. CLINICAL CASE: 34-week preterm newborn, with severe prenatal history of polyhydramnios, increased nuchal trans- lucency, and hyperechogenic cardiac focus, with a TORCH study that ruled out congenital infection. Peripheral facial paralysis, choanal atresia, multiple dysmorphisms, congenital heart disease, and bilateral retinochoroidal coloboma were observed at birth. The neuroimaging study showed hypo plasia of the cochlea and bilateral semicircular canals, and pontocerebellar hypoplasia. The auditory evoked potentials showed deep right-sided sensorineural hearing loss and left anacusis. The patient developed hypocalcemia and immunological alterations, confirming hypoparathyroidism and thy mus hypoplasia. The karyogram was normal and 22q11.2 microdeletion was excluded through mul tiplex ligation-dependent probe amplification (MPLA). A pathogenic variant in the CHD7 gene was detected that confirmed the clinical suspicion of CHARGE syndrome. CONCLUSIONS: The overlap of clinical characteristics of CHARGE syndrome requires molecular genetic confirmation, considering differences in evolution, therapies, and recurrence risks with other genetic syndromes.

Reconocimiento de trastornos de salud mental en adolescentes escolarizados: estudio descriptivo / Recognition of mental disorders in schooled adolescents: a descriptive study

OBJETIVO Describir el reconocimiento de seis trastornos de salud mental, en adolescentes escolarizados en enseñanza secundaria. MÉTODO Estudio de tipo exploratorio, descriptivo y transversal. Los participantes fueron adolescentes entre 14 y 19 años, estudiantes de enseñanza secundaria de la localidad de Talca, en la Región del Maule (Chile). Para examinar el reconocimiento de problemas de salud mental se utilizaron seis viñetas, que forman parte del cuestionario general de búsqueda de ayuda (versión viñeta), donde en cada una se describía a un adolescente que presentaba síntomas de seis distintos problemas (estrés, ansiedad, depresión, ideación suicida, abuso de alcohol, psicosis). Los participantes fueron instruidos para leer estas viñetas y luego responder a la pregunta ¿Qué crees que le está sucediendo? El análisis descriptivo consideró principalmente frecuencias y porcentajes. RESULTADOS Se administró el cuestionario con las viñetas a 400 adolescentes de ambos sexos entre 14 y 19 años (Media = 15,73 años). El tema más reconocido por los participantes fue el abuso de alcohol, mientras que la ansiedad fue la menos reconocida por los adolescentes. Las mujeres tendieron a reconocer más todos los problemas de salud mental, siendo el tema que más diferencias evidenció el abuso de alcohol, con un 56,6% de adolescentes mujeres que reconocieron el problema y un 41,4% de varones que lo identificaron. CONCLUSIONES En general, los resultados mostraron bajos niveles de reconocimiento de trastornos de salud mental en los adolescentes participantes. Las adolescentes mujeres y los participantes de establecimientos educacionales subvencionados, tendieron a reconocer más correctamente los distintos problemas presentados.

OBJECTIVE To describe high school students' ability to recognize six mental health disorders. METHOD This is a descriptive, cross-sectional study. Participants were teenagers between 14-19 years of age, high-school students from the town of Talca, in the Maule Region (Chile). In order to examine the recognition of mental health issues, six vignettes were used, each describing a teenager showing symptoms of six different problems (stress, anxiety, depression, suicidal thoughts, alcohol abuse, and psychosis). The vignettes are part of the general help-seeking questionnaire for mental health problems in adolescents (vignette version). Participants were instructed to read the vignettes and then answer the question: what do you think is happening to them? The descriptive analysis mainly considered frequencies and percentages. RESULTS The vignette questionnaire was administered to 400 adolescents of both genders between 14-19 years of age (Mean = 15.73 years). The topic most recognized by the participants was the abuse of alcohol, while anxiety was the least recognized. Women showed a greater tendency to recognize all mental health issues, being the topic of alcohol abuse the one showing the most differences in recognition, with 56.6% of female adolescents recognizing the problem and 41.4% of males identifying it. CONCLUSIONS In general, results showed low levels of ability to recognize mental health disorders among participating adolescents. Female adolescents and participants of subsidized educational establishments tended to better acknowledge the different problems presented.

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. / Talla baja e hipotiroidismo en un niño con Síndrome de Nail-Patella. Reporte de un caso clínico.

BACKGROUND: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. OBJECTIVE: To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. CASE REPORT: An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. CONCLUSION: We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

Talla baja e hipotiroidismo en un niño con Síndrome de Nail-Patella. Reporte de un caso clínico / Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report

Resumen: Introducción: El síndrome de Nail-Patella (NPS) es un desorden autosómico dominante caracterizado por anomalías esqueléticas, displasia ungueal, alteraciones renales y oculares. El diagnóstico se sospecha con la clínica y radiología y se confirma por la identificación de una variante patogénica en el gen LMX1B. El manejo de estos pacientes implica un seguimiento continuo y el tratamiento de las posibles complicaciones ortopédicas, oculares y renales. Objetivo: Describir un caso de NPS con talla baja e hipotiroidismo, asociación que no ha sido descrita en la literatura. Caso clínico: Adolescente de 11 años con talla 130 cm (-2,01 Desviaciones Estándar [DE]) fue referido a Endocrinología a los 2 años de edad por pruebas tiroideas alteradas. Se detectaron uñas displásicas y talla baja despro porcionada, además de anormalidades radiológicas sugerentes de displasia esquelética. Se confirmó hipotiroidismo primario, con anticuerpos negativos y ecografía normal, por lo que se inició trata miento con levotiroxina. El diagnóstico de NPS fue confirmado mediante estudio genético de ADN constatándose una variante patogénica en el gen LMX1B. Su padre presentaba un fenotipo similar, con estatura normal. Su edad ósea era acorde con la cronológica. Tanto el estudio general de talla baja como un test de clonidina para estimulación de GH fueron normales. Conclusión: Presentamos un paciente con NPS confirmado, asociado a talla baja e hipotiroidismo. No hallamos publicaciones en la literatura que describieran esta triple asociación. No se descarta que podría haber una relación entre el NPS y las alteraciones tiroideas halladas en este paciente.

Abstract: Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. Objective: To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. Case report: An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. Conclusion: We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

East of the Andes: The genetic profile of the Peruvian Amazon populations.

OBJECTIVES: Assuming that the differences between the Andes and the Amazon rainforest at environmental and historical levels have influenced the distribution patterns of genes, languages, and cultures, the maternal and paternal genetic reconstruction of the Peruvian Amazon populations was used to test the relationships within and between these two extreme environments. MATERIALS AND METHODS: We analyzed four Peruvian Amazon communities (Ashaninka, Huambisa, Cashibo, and Shipibo) for both Y chromosome (17 STRs and 8 SNPs) and mtDNA data (control region sequences, two diagnostic sites of the coding region, and one INDEL), and we studied their variability against the rest of South America. RESULTS: We detected a high degree of genetic diversity in the Peruvian Amazon people, both for mtDNA than for Y chromosome, excepting for Cashibo people, who seem to have had no exchanges with their neighbors, in contrast with the others communities. The genetic structure follows the divide between the Andes and the Amazon, but we found a certain degree of gene flow between these two environments, as particularly emerged with the Y chromosome descent cluster's (DCs) analysis. DISCUSSION: The Peruvian Amazon is home to an array of populations with differential rates of genetic exchanges with their neighbors and with the Andean people, depending on their peculiar demographic histories. We highlighted some successful Y chromosome lineages expansions originated in Peru during the pre-Columbian history which involved both Andeans and Amazon Arawak people, showing that at least a part of the Amazon rainforest did not remain isolated from those exchanges.

Wheat flour fortification with folic acid: changes in neural tube defects rates in Chile.

In January 2000, Chilean Ministry of Health mandated the addition of folic acid (FA) to wheat flour in order to reduce the risk of neural tube defects (NTDs). This policy resulted in significant increases in serum and red cell folate in women of fertile age 1 year after fortification. To evaluate the effect of wheat flour fortification on the prevalence of NTDs in Chile we designed a prospective hospital-based surveillance program to monitor the frequency of NTDs in all births (live and stillbirths) with birth weight≥500 g at the nine public maternity hospitals of Santiago, Chile from 1999 to 2009. During the pre-fortification period (1999-2000) the NTD rate was 17.1/10,000 births in a total of 120,566 newborns. During the post-fortification period (2001-2009) the NTD rate decreased to 8.6/10,000 births in a total of 489,915 newborns, which translates into a rate reduction of 50% (RR: 0.5; 95% CI: 0.42-0.59) for all NTDs. The rate reduction by type of NTD studied was: 50% in anencephaly (RR: 0.5; 95% CI: 0.38-0.67), 42% in cephalocele (RR: 0.58; 95% CI: 0.37-0.89), and 52% in spina bifida (RR: 0.48; 95% CI: 0.38-0.6). Rates showed significant reduction both in stillbirths and live births: 510.3 to 183.6/10,000 (RR=0.36; 95% CI: 0.25-0.53) and 13.3 to 7.5/10,000 (RR=0.56; 95% CI: 0.47-0.68), respectively. In Chile, fortification of wheat flour with FA has proven to be an effective strategy for the primary prevention of NTDs.

Psychological characteristics of morbidly obese candidates for bariatric surgery.

BACKGROUND: Morbid obesity has multiple negative consequences for psychological health. These patients are described as depressed, anxious, and impulsive, with low self-esteem and impaired quality of life. The severity of these psychological disorders has been related to the degree of obesity. The aim of this study was to analyze the psychopathological characteristics of obese candidates for bariatric surgery, determining differences and similarities in general and specific psychopathologic symptoms among patients with different degrees of obesity and normal-weight individuals. METHODS: The study included 50 patients (26 type III obesity, 24 type IV obesity) and 25 normal-weight volunteers. They were all assessed for: stress (CED44-B), anxiety-depression (General Health Questionnaire), self-esteem (Rosenberg Self-Esteem Scale), family function (Apgar Family Function Questionnaire), quality of life (Spanish version of the Quality of Life Index), personality (Eysenck Personality Questionnaire-Revised), food craving (Food Craving Questionnaire-Trait), and eating behavior disorder (EBD) symptomatology (Eating Disorders Examination-Questionnaire Version-4). RESULTS: The obese patients had higher levels of stress, anxiety, depression, food craving, and EBD symptoms and lower levels of self-esteem and quality of life compared with normal-weight controls. No personality or family function disorders were observed in any of the obese or normal-weight subjects. Patients with type III and type IV obesity differed only in anxiety and personality findings. CONCLUSIONS: Although the presence of psychological disorders cannot be taken as an absolute criterion for exclusion of candidates for obesity surgery, a better understanding of the relationship of these variables with weight loss and other outcomes of bariatric surgery may improve patient selection and facilitate more appropriate interventions.

[Intragastric balloon in obesity treatment]. / Balón intragástrico en el tratamiento de la obesidad.

Obesity is considered a chronic and epidemic illness, hece difficult to treat. As conservative treatment has a high rate of failure, and considering morbimortality and sequels of surgery, less invasive techniques appeared to contribute to the treatment of this illness. The most implanted technique nowadays is the Intragastric Balloon, considered more efficient as conservative treatments and with less risks tan surgery, but having today a lack of consensus on indications and few information on his limitations, while its apparition in medias promote an important expansion in the 4 last years. In this publication, we do a critical revision, and describe limitations of this treatment, based on the evidences given by literature. We conclude this revision with some recommendations concerning the technique and indications, material and human requiring, need of a Multidisciplinary Team, as well as an adequate control and following.

Balón intragástrico en el tratamiento de la obesidad / Intragastric balloon in obesity treatment

La obesidad es considerada una enfermedad crónica, epidémica, y de difícil tratamiento. Ante el alto índice de fracasos de los métodos conservadores, y por otra parte, la inevitable morbimortalidad y secuelas ligadas a la cirugía, surgen nuevas técnicas poco invasivas destinadas a contribuir al tratamiento de esta enfermedad. La más implantada actualmente es el Balón Intragástrico, considerado más eficaz que el tratamiento conservador, con menos riesgo que la cirugía pero que adolece adía de hoy de una falta de consenso sobre sus indicaciones y escasa información sobre sus limitaciones, al tiempo que su aparición mediática ha propiciado su gran difusión en los 4 últimos años. En este trabajo se realiza una revisión crítica y se señalan las limitaciones de este tratamiento con base a la evidencia aportada por los estudios publicados hasta la fecha. Como conclusión de dicha revisión, se emiten una serie de recomendaciones respecto a la técnica y sus indicaciones, requisitos materiales y humanos, necesidad de Equipo Multidisciplinar así como del control y seguimiento Adecuados (AU)

Obesity is considered a chronic and epidemic illness, and difficult to treat. As conservative treatment has a high rate of failure, and considering morbimortality and sequels of surgery, less invasive techniques appeared to contribute to the treatment of this illness. The most implanted technique nowadays is the Intragastric Balloon, considered more efficient as conservative treatments and with less risks tan surgery, but having today a lack of consensus on indications and few information on his limitations, while its apparition in medias promote an important expansion in the 4 last years. In this publication, we do a critical revision, and describe limitations of this treatment, based on the evidences given by literature. We conclude this revision with some recommendations concerning the technique and indications, material and human requiring, need of a Multidisciplinary Team, as well as an adequate control and following (AU)

[IV Debate Forum of the SENPE: questions on nutrition research]. / IV Foro de Debate SENPE: problemática de la investigación en nutrición.

The IV Debate Forum of the SENPE values from a multidisciplinary and multi-professional perspective the questions on clinical research in nutrition in Spain, focusing on enteral nutrition due to the lack of legislation on this issue. The concluding remarks point out the SENPE commitment with promoting quality, education and facilitation of research, greater help to emergent groups, looking for financial support, and timely information on the several summons from public systems and reference centers

IV Foro de Debate SENPE: problemática de la investigación en nutrición / IV debate forum of the SENPE: questions on nutrition research

El IV Foro de Debate SENPE valora desde un punto de vista multidisciplinar y multiprofesional la problemática de la investigación clínica en nutrición en España centrándose, debido a la falta de legislación, en la nutrición enteral. Se concluye en el compromiso de la SENPE en la potenciación de la calidad, en la formación y facilitación de la investigación, en una mayor ayuda a los grupos investigadores emergentes, en la búsqueda de financiación y en una puntual información sobre las diferentes convocatorias de los sistemas públicos y sobre los centros de referencia

The IV Debate Forum of the SENPE values from a multidisciplinary and multi-professional perspective the questions on clinical research in nutrition in Spain, focusing on enteral nutrition due to the lack of legislation on this issue. The concluding remarks point out the SENPE commitment with promoting quality, education and facilitation of research, greater help to emergent groups, looking for financial support, and timely information on the several summons from public systems and reference centers

Derrame pleural de larga evolución en varón exfumador. ¿Cuál es tu diagnóstico? / Long course pleural effusion in male ex-smoker. What is your diagnosis

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[Tuberculosis in the area of Lorca: to adapt or resist]. / Tuberculosis en la comarca de Lorca: adaptarse o resistir.

OBJECTIVE: We studied the epidemiological characteristic of tuberculosis in Lorca area, drug resistant and the effect of the immigration population (Ecuador) in this area. PATIENTS AND METHODS: A retrospective study for six years ago (1999, January to 2004, December) was realized. Epidemiological data, initial diagnostic probability, mycobacteria stain and cultive, drug resistance, treatment response, and epidemiological differences between immigrants and spain population were compared. RESULTS: Within 158 cases registered, 41.7 percent were immigrants with less than one year in Spain, the most part Ecuador population. We observed that extrapulmonar tuberculosis was lower initial diagnostic probability than pleural disease as well too haemoptisis, pleural pain and weight loss. It was identified positive micobacterial stain in 35.4 percent of respiratory samples. It was successfully results in 74 percent of cases and 13.9 percent of patients were lost, this result was frequently registered in immigrants, The isoniazide resistant in patients with not previous treatment was 5.3 percent and it was 9.5 percent in immigrants and 10.8 percent in Ecuador population. CONCLUSION: It is necessary improve: the diagnostic of extrapulmonar tuberculosis and avoid loss patient by programs of capture and then the successfully treatments raise. The isoniazide resistant in this area suggest that we must use initial four drug than tree and this manner not raise the drug resistant in the area.

Tuberculosis en la comarca de Lorca: adaptarse o resistir / Tuberculosis in the area of Lorca: to adapt or resist

Objetivo: analizar las características epidemiológicas de los casos de tuberculosis del área de salud de la comarca de Lorca, su resistencia a fármacos y el impacto de la población inmigrante mayoritaria (Ecuador) en la misma. Pacientes y métodos: estudio longitudinal, retrospectivo de 6 años de duración (de enero de 1999 a diciembre 2004). Se recogieron datos epidemiológicos de cada caso, probabilidad diagnóstica inicial, tinciones diagnósticas, aislamientos, resistencia a fármacos, respuesta al tratamiento, así como, las diferencias epidemiológicas existentes entre inmigrantes y autóctonos. Resultados: Se identificaron 158 casos, 41,7% eran inmigrantes con menos de 1 año de estancia en nuestro país, mayoritariamente procedentes de Ecuador. Observamos que la tuberculosis extrapulmonar para el clínico tenía una probabilidad diagnóstica baja, mientras que la pleural era alta, junto a síntomas como hemoptisis, dolor pleurítico y constitucionales. En 35,4% de los casos se idéntifico germen por tinción en muestras respiratorias. Se obtuvo un 74% de resultados satisfactorios por el tratamiento y 13,9% de abandono asociado frecuentemente con la inmigración. La resistencia a isoniazida en no tratados fue del 5,3% en el área, 9,5% en el caso de inmigrantes y 10,8% en los oriúndos de Ecuador. Conclusión: Se debe mejorar en: la detección de los casos extrapulmonares, evitar el abandono con la captación de los enfermos y la curación de enfermedad. Las resistencias a isoniazida en nuestra área sugiere adaptarse a tratamientos de inicio con cuatro fármacos y no a tres para evitar incremento de resistencias en nuestra área de salud

Objective: We studied the epidemiological characteristic of tuberculosis in Lorca area, drug resistant and the effect of the immigration population (Ecuador) in this area. Patients and methods: A retrospective study for six years ago (1999, January to 2004, December) was realized. Epidemiological data, initial diagnostic probability, mycobacteria stain and cultive, drug resistance, treatment response, and epidemiological differences between immigrants and spain population were compared. Results: Within 158 cases registred, 41.7 percent were immigrants with less than one year in Spain, the most part Ecuador population. We observed that extrapulmonar tuberculosis was lower initial diagnostic probability than pleural disease as well too haemoptisis, pleural pain and weight loss. It was identified positive micobacterial stain in 35.4 percent of respiratory samples. It was succesfully results in 74 percent of cases and 13.9 percent of patients were lost, this result was frecuently registred in immigrants, The isoniazide resistant in patients with not previous treatment was 5.3 percent and it was 9.5 percent in immigrants and 10.8 percent in Ecuador population. Conclusion: It is necessary improve: the diagnostic of extrapulmonar tuberculosis and avoid loss patient by programs of capture and then the succesfully treatments raise. The isoniazide resistant in this area suggest that we must use initial four drug than tree and this manner not raise the drug resistant in the area

[Complications of enteral nutrition at home. Results of a multicentre trial]. / Complicaciones de la nutrición enteral domiciliaria. Resultados de un estudio multicéntrico.

AIM: In spite of the increasing number of home enteral nutrition (HEN) patients, only few articles had reported the frequency of complications related to this treatment. Our multicentric study analyzes the HEN complications in relation to access device and time of treatment. METHOD: 92 HEN patients from 8 hospitals were randomly selected. Patients were distributed in relation to the time of treatment and access device (nasogastric tube and percutaneous or surgical gastrostomies). After an educational program, they were filled in an initial questionnaire and repeated it the days 15 and 30. They received a mean of 1650 Kcal of enteral solution. A total of 2760 HEN prospective days were analyzed. RESULTS: In prospective study 42% of patients had some complication (112 episodes). The most frequent were gastrointestinal (55%) and mechanical (29%); 0.16 complications of patient-year were registered. The most common complications were: extraction (15%), constipation (13%), vomiting (12%) and diarrhoea (10%). The gastrostomy group had more gastrointestinal complications. In retrospective evaluation, percutaneous gastrostomy group had the lowest ratio of complications and nasogastric tube group required more tube replacements (4 vs 2) and had 1.96 episodes/patient (percutaneous group 1.85 and surgical gastrostomy 3.1 episodes/patient). CONCLUSION: HEN is safe with low incidence of complications. An adequate educational program is very important and we expect, in the future, to establish an proper National Home Care System.

Complicaciones de la nutrición enteral domiciliaria. Resultados de un estudio multicéntrico / Complications of enteral nutrition at home. Results of a multi-centre trial

Objetivo: A pesar del número creciente de nutrición enteral domiciliaria (NED), sólo algunos artículos recogen la frecuencia de sus complicaciones. Este estudio multicéntrico analiza estas complicaciones en relación a la vía de acceso y la duración del soporte nutricional. Método: Seleccionamos aleatoriamente 92 pacientes con NED de 8 hospitales y se distribuyeron en relación a la duración del soporte y a la vía de acceso: sonda nasogástrica (SNG) y gastrostomías percutánea o quirúrgica. Tras un programa educativo, los pacientes completaron un cuestionario inicial que se repitió en los días 15 y 30.Recibieron una media de 1.650 kcal de fórmula enteral. Se analizaron un total de 2.760 días prospectivos de NED. Resultados: En la fase prospectiva, el 42 por ciento de los pacientes tuvo alguna complicación (112 episodios). Los más frecuentes fueron digestivos (55 por ciento) y mecánicos (29 por ciento); se registraron 0,16 complicaciones por paciente-año. Las complicaciones más comunes fueron: extracción (15 por ciento), estreñimiento (13 por ciento), vómitos (12 por ciento) y diarrea (10 por ciento). El grupo de gastrostomía tuvo más complicaciones digestivas. En el análisis retrospectivo, el grupo de gastrostomía percutánea tuvo menos complicaciones y el de SNG requirió más recambios de sondas (4 frente a 2) y tuvieron 1,96 complicaciones/paciente (grupo de gastrostomía percutánea 1,85 y quirúrgica 3,1). Conclusión: La NED es segura y presenta una baja incidencia de complicaciones. Un programa educativo adecuado es muy útil y esperamos, en el futuro, contribuir a un mejor sistema de atención domiciliaria (AU)

Aim: In spite of the increasing number of home enteral nutrition (HEN) patients, only few articles had reported the frequency of complications related to this treatment. Our multicentric study analyzes the HEN complications in relation to access device and time of treatment. Method: 92 HEN patients from 8 hospitals were randomly selected. Patients were distributed in relation to the time of treatment and access device (nasogastric tube and percutaneous or surgical gastrostomies). After an educational program, they were filled in an initial questionnaire and repeated it the days 15 and 30. They received a mean of 1650 Kcal of enteral solution. A total of 2760 HEN prospective days were analyzed. Results: In prospective study 42% of patients had some complication (112 episodes). The most frequent were gastrointestinal (55%) and mechanical (29%); 0.16 complications of patient-year were registered. The most common complications were: extraction (15%), constipation (13%), vomiting (12%) and diarrhoea (10%). The gastrostomy group had more gastrointestinal complications. In retrospective evaluation, percutaneous gastrostomy group had the lowest ratio of complications and nasogastric tube group required more tube replacements (4 vs 2) and had 1.96 episodes/patient (percutaneous group 1.85 and surgical gastrostomy 3.1 episodes/patient). Conclusion: HEN is safe with low incidence of complications. An adequate educational program is very important and we expect, in the future, to establish an proper National Home Care System (AU)

[Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome]. / Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11.

BACKGROUND: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. AIM: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. PATIENTS AND METHODS: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral lymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. RESULTS: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. CONCLUSIONS: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications.

New-onset delusions and hallucinations in patients infected with HIV.

OBJECTIVE: To assess the relationship between HIV-associated psychotic symptoms (i.e., delusions, hallucinations) and demographic, psychopathological and medical variables by comparing patients with and without cerebral opportunistic infections or metabolic encephalopathy. DESIGN: Cross-sectional study. PATIENTS: 26 patients admitted to hospital with HIV and new-onset psychotic symptoms, defined according to DSM-III-R criteria. OUTCOME MEASURES: A semistructured psychiatric interview using the Psychopathology Assessment Scale (AMDP-4) of the Association for Methodology and Documentation in Psychiatry system. Comprehensive medical assessments, including laboratory tests and computed tomographic scans, were also performed. RESULTS: Patients with cerebral opportunistic infections or metabolic encephalopathy (i.e., "secondary" psychosis, n = 13) were more likely to show disorders of consciousness, disorders of orientation and disturbances of attention and memory than those with no evidence of HIV-related cerebral disease (i.e., "primary" psychosis, n = 13); 10 patients (77%) with cerebral opportunistic infections or metabolic encephalopathy and only 1 (8%) patient without (p < 0.001) were diagnosed with delirium. These associations were stronger for the "secondary" patients with no focal brain lesions than for those with lesions. CONCLUSIONS: These findings suggest that "organic" symptoms of psychosis in those infected with HIV are related to the systemic and cerebral complications of HIV infection rather than to the psychotic process itself.