Latin American consensus on the quality indicators for comprehensive care clinics for patients with inflammatory bowel disease: PANCCO-GETECCU.

INTRODUCTION: Inflammatory bowel disease (IBD) is a chronic and incurable entity. The aim of the Pan American Crohn's and Colitis Organisation (PANCCO) is to create awareness of IBD, with special emphasis on Latin America, and the primary objective of the Spanish Working Group on Crohn's Disease and Ulcerative Colitis (GETECCU, the Spanish acronym) is to obtain the accreditation of the clinical and therapeutic criteria for the diagnosis and treatment of IBD. AIM: To carry out a consensus for evaluating the approval criteria that a Comprehensive Care Clinic for Latin American IBD patients must meet, to be considered a center of excellence. MATERIALS AND METHODS: Fourteen clinical experts participated in the consensus. They were made up of specialists in gastroenterology, with broad clinical experience, spanning several years, in managing the care of a large number of patients with IBD, as well as advanced specialists in IBD. Thirteen of the participants came from 11 Latin American countries (Argentina, Brazil, Colombia, Dominican Republic, Ecuador, Guatemala, Mexico, Peru, Puerto Rico, Uruguay, and Venezuela) that have IBD clinics. An expert from Spain, representing the GETECCU, provided the methodologic support. The consensus consisted of 52 statements divided into three sections: 1) Structure indicators, 2) Process indicators, and 3) Result indicators. The Delphi panel method was applied. RESULTS: The present Latin American consensus describes the quality indicators that a Comprehensive Care Clinic for IBD patients must meet, to be considered a center of excellence, taking into account the needs of our region. CONCLUSIONS: This is the first Latin American consensus, jointly carried out by the PANCCO and GETECCU, to present accreditation standards for centers of excellence in the care of patients with IBD.

In-tube solid phase microextraction coupled to miniaturized liquid chromatography for both, noble metal nanoparticle assessment and sensitive plasmonic assay development.

Colorimetric localized surface plasmon resonance (LSPR) as analytical response is applied for a wide number of chemical sensors and biosensors. However, the dependence of different factors, such as size distribution of nanoparticles (NPs), shape, dielectric environment, inter-particle distance and matrix, among others, can provide non-reliable results by UV-vis spectrometry in complex matrices if NP assessment is not carried out, particularly at low levels of analyte concentrations. Miniaturized liquid chromatography, capillary (CapLC) and nano (NanoLC), coupled on line with in-tube solid phase microextraction (IT-SPME) is proposed for the first time for both, controlling suitability of used noble metal NP dispersions and developing plasmonic assays. Several capped noble NPs and target analytes were tested from variations in the chromatographic profiles obtained by using diode array detection. The IT-SPME step, which influenced the chromatographic fingerprint provided by noble NP dispersions, was studied by asymmetrical flow field flow fractionation (AF4) too. We monitored NP aggregation induced by interaction with several analytes like acids and spermine (SPN). Assessment of NPs was achieved in less than 10 min and it permitted to develop suitable plasmonic tests. Here, it was also demonstrated that these assays can be followed by IT-SPME-miniaturized LC-DAD and more sensitivity and selectivity than those provided by UV-Vis spectrometry were achieved. Analysing urine samples to determine SPN as a cancer biomarker as a proof of concept is presented.

Función del profesional en enfermería en la atención del acoso escolar en niños, niñas y adolescentes / Role of the nursing professional in the attention of bullying in children and adolescents / Papel do profissional de enfermagem na atenção do bullying em crianças e adolescentes

Actualmente se ha incrementado y visualizado el fenómeno del acoso escolar o bullying (por su traducción al inglés); sin embargo,\r\nllama la atención que esta práctica ha existido durante mucho tiempo, pero solo ahora se evidencian las consecuencias que genera\r\nen los niños, niñas y adolescentes; además, según diversos estudios, puede conducir a suicidios en esta población. Diversas profesiones\r\nhan profundizado en el tema; a pesar de ello, no se ha visto avance en el manejo y prevención del acoso, y ha aumentado\r\nel número de casos que llegan a instituciones de salud relacionados con los daños físicos y psicológicos en quienes lo padecen.\r\nPara la enfermería es un reto poder abordar esta situación y proponer estrategias de intervención para su manejo y prevención no\r\nsolo en la víctima y victimario, sino también en la familia, las escuelas e instituciones de salud en los diferentes niveles de atención,\r\nya que cuenta con las herramientas para diseñar intervenciones en el manejo de la comunidad y del paciente institucionalizado.

Currently the phenomenon of bullying has increased and\r\nvisualized, however, it is striking that this practice has existed\r\nfor a long time, but it is up until now where the consequences\r\nthat it generates in the children and adolescents are shown,\r\nwhere, according to various studies, can generate suicides in\r\nthis population. Various professions have deepened the issue;\r\ndespite this, there has not been progress in the management\r\nand prevention of harassment and it has increased\r\nthe number of cases that reach health institutions related to\r\nphysical and psychological damage that are caused in the\r\nchild victim of bullying. It is a challenge for nursing to tackle\r\nthis situation and propose possible intervention strategies for\r\nits management and prevention, not only in the victim and\r\nvictimizer, but also in the family, schools, and health institutions\r\nin the different levels of care, since it has the tools to\r\ndesign interventions in the management of the community\r\nand the institutionalized patient.

Atualmente, o fenômeno do bullying está cada vez maior e\r\nvisível; no entanto, é impressionante que esta prática exista\r\nhá muito tempo, mas só agora que suas consequências em\r\ncrianças e adolescentes que, de acordo com vários estudos\r\npodem gerar suicídios nesta população, estão evidentes. Várias\r\nprofissões se aprofundaram no assunto. Porém, não houve\r\nprogresso na gestão e prevenção de assédio e o número de\r\ncasos que chegam a instituições de saúde relacionados ao\r\ndano físico e psicológico causado à criança vítima de assédio\r\nescolar aumentou. É um desafio para a enfermagem abordar\r\nesta situação e propor possíveis estratégias de intervenção\r\npara a sua gestão e prevenção, não só na vítima e perpetrador,\r\nmas também na família, escolas e instituições de saúde nos\r\ndiferentes níveis de cuidados, uma vez que tem as ferramentas\r\npara conceber intervenções no manejo da comunidade e do\r\npaciente institucionalizado.

Calidad de vida relacionada con la salud y determinantes socioeconómicos en personas con enfermedad renal crónica / Health-related quality of life and socioeconomic determinants in people with chronic kidney disease / Qualidade de vida relacionada à saúde e determinantes socioeconômicos em pessoas com doença renal crônica

Introducción: La salud es una necesidad, un recurso, y un derecho universal. Existen una serie de factores llamados Determinantes Sociales de la Salud (DSS) que actúan de manera interactiva y compleja sobre ella e influyen en la calidad de vida de las personas. La enfermedad renal crónica (ERC) es una de las patologías cuya etiología se está relacionando además de las causas tradicionales con los DSS, afectando la calidad de vida de quienes la padecen. Objetivos: Analizar el nivel de calidad de vida relacionada con la salud (CVRS) en personas con ERC de etiología desconocida. Identificar los determinantes socioeconómicos (DSE) que prevalecen en ellas y correlacionarlos con su nivel de CVRS. Metodología: Estudio observacional, transversal, descriptivo. La muestra estuvo conformada por 40 personas con ERC de etiología no específica. Resultados: El 70% de la población era del sexo masculino, en rangos de edad el 56% se encontraba entre los 18-30 años, 52.5% contaba con pareja, el 62.5% tenía escolaridad básica, únicamente el 22.5% de los sujetos se encontraba laboralmente activo, el ingreso familiar mensual era medio para el 57.7% de ellos, solamente el 15% recibía apoyo gubernamental, y 77.5% no contaba con una vivienda propia. Respecto a la ERC el 65% de los sujetos tenía menos de un año con el diagnóstico, 80% estaba bajo el tratamiento de hemodiálisis, 10% en diálisis peritoneal y el 10% restante en tratamiento farmacológico. En cuanto a la CVRS, los niveles más altos se obtuvieron en las dimensiones aspecto físico (42.5%), relaciones sociales (55%) y estado mental (47.5%). Los niveles medios predominaron en las dimensiones vitalidad (45%) y estado emocional (47.5%), mientras que el nivel más bajo se encontró en la dimensión funcionalidad (42.5%). Se encontraron diferencias estadísticamente significativas (p˂0.05) en los niveles de CVRS según el estado civil, la escolaridad, la suficiencia del ingreso económico, el lugar de origen, el material de la vivienda y el beneficio de programas sociales. Algunos DSE como el sexo, la escolaridad, la situación laboral, etc. se comportaron como factores de riesgo para obtener niveles bajos de CVRS, mientras que la edad, el estado civil y la ocupación entre otros se comportaron como factores protectores. Conclusiones: El nivel de CVRS de las personas con ERC de etiología no específica que acudieron a un hospital público de tercer nivel para su atención se encontró entre medio y bajo y estuvo determinado en cierta medida por sus características socioeconómicas. El estudio de la CVRS y su relación con los DSE representa un área de oportunidad para el profesional de enfermería con el fin de intervenir en los tres niveles de atención. Medir la CVRS puede ser usado como indicador de la calidad de la atención médica.

Introduction: Health is a necessity, a resource, and a universal right. There are a number of factors called Social Determinants of Health (DSS) that act in an interactive and complex way and influence the quality of life of people. Chronic kidney disease (CKD) is one of the pathologies whose etiology is related in addition to the traditional causes with DSS, affecting the quality of life of those who suffer. Objectives: To analyze the level of health-related quality of life (HRQL) in people with CKD of unknown etiology. Identify the socioeconomic determinants (SDH) that prevail in them and correlate them with their level of HRQoL. Methodology: Observational, transversal, descriptive study. The sample consisted of 40 people with CKD of non-specific etiology. Results: 70% of the population was male, in age ranges 56% were between 18-30 years old, 52.5% had a partner, 62.5% had basic schooling, only 22.5% of the subjects were the monthly family income was average for 57.7% of them, only 15% received government support, and 77.5% did not have a home of their own. Regarding CKD, 65% of the subjects had less than one year of diagnosis, 80% under hemodialysis treatment, 10% under peritoneal dialysis and the remaining 10% under pharmacological treatment. Regarding HRQoL, the highest levels were obtained in physical appearance (42.5%), social relations (55%) and mental status (47.5%). The mean levels predominated in the vitality (45%) and emotional (47.5%) dimensions, while the lowest level was found in the functional dimension (42.5%). Statistically significant differences (p0.05) were found in HRQoL levels according to marital status, schooling, and sufficiency of income, place of origin, housing material and the benefit of social programs. Some DSEs such as sex, schooling, employment status, etc. Were behaving as risk factors for low HRQoL, while age, marital status and occupation, among others behaved as protective factors. Conclusions: The level of HRQOL of people with non-specific etiology who attended a hird-level public hospital for their care was found between medium and low and was determined to some extent by their socioeconomic characteristics. The study of HRQOL and its relation with the DSE represents an area of opportunity for the nursing professional in order to intervene in the three levels of care. Measuring HRQL can be used as an indicator of quality of care.

"Introdução: Saúde é uma necessidade, um recurso e um direito universal. Existem vários fatores, chamados determinantes sociais da saúde (DSS), que agem de maneira interativa e complexa e influenciam a qualidade de vida das pessoas. A doença renal crônica (DRC) é uma das patologias cuja etiologia está sendo relacionada, além das causas tradicionais, com o DSS, afetando a qualidade de vida de quem sofre. Objetivos: Analisar o nível de qualidade de vida relacionada à saúde (QVRS) em pessoas com DRC de etiologia desconhecida. Identifique os determinantes socioeconômicos (DSE) que prevalecem neles e os correlacione com o nível de QVRS. Metodologia: Estudo observacional, transversal, descritivo. A amostra foi composta por 40 pessoas com DRC de etiologia inespecífica. Resultados: 70% da população era do sexo masculino, na faixa etária de 56% tinha entre 18 e 30 anos, 52,5% tinham companheiro, 62,5% possuíam ensino fundamental, apenas 22,5% dos indivíduos tinham Eu trabalhava, a renda mensal da família era média para 57,7% deles, apenas 15% recebiam apoio do governo e 77,5% não tinham casa própria. Em relação ao DRC 65% dos indivíduos tinham menos de um ano com o diagnóstico, 80% estavam em tratamento hemodialítico, 10% em diálise peritoneal e os 10% restantes em tratamento farmacológico. Em relação à QVRS, os maiores níveis foram obtidos nas dimensões aparência física (42,5%), relações sociais (55%) e estado mental (47,5%). Os níveis médios predominaram nas dimensões vitalidade (45%) e estado emocional (47,5%), enquanto o nível mais baixo foi encontrado na dimensão funcionalidade (42,5%). Foram encontradas diferenças estatisticamente significantes (p˂0,05) nos níveis de QVRS de acordo com o estado civil, escolaridade, suficiência de renda econômica, local de origem, material habitacional e benefício dos programas sociais. Alguns DSE, como sexo, escolaridade, status de emprego, etc. Eles se comportaram como fatores de risco para obter baixos níveis de QVRS, enquanto idade, estado civil e ocupação, entre outros, se comportaram como fatores de proteção. Conclusões: O nível de QVRS das pessoas com DRC de etiologia inespecífica que foram a um hospital público de terceiro nível para atendimento foi entre médio e baixo e foi determinado, em certa medida, por suas características socioeconômicas. O estudo da QVRS e sua relação com o DSE representa uma área de oportunidade para o profissional de enfermagem, a fim de intervir nos três níveis de atenção. Meça o O HRQL pode ser usado como um indicador da qualidade dos cuidados médicos.

Manejo actual de la microtia: redefinición anátomo-quirúrgica / Management of microtia based on a redefinition of its anatomical-surgical classification

Background: Incomplete development and growth of the pinna can lead to a small or deformed pinna, called microtia. Aim: To report and evaluate the effectiveness of a surgical technique previously described for the treatment of microtia, based on a new anatomical-surgical classification. Materials and Methods: Retrospective study of patients treated at two plastic surgery departments from January 2008 to December 2010. We recruited a total of 15 patients aged 9 to 25 years. Thirteen (87 percent) had unilateral and 2 (13 percent) bilateral microtia. All patients underwent the surgical reconstructive technique described by Firmin. Results: Among patients with unilateral microtia, seven belonged to Firmin type I, five to type II and one to type IIIa. Both patients with bilateral microtia, were classified as type IIIb. In all cases with unilateral microtia, a good initial projection of the cartilage frame was achieved during the first surgical procedure. Six patients were subjected to a second operation. During 18 months follow up, four patients (16 percent) had complications. Conclusions: This surgical technique that is based on an anatomical surgical classification, achieves favorable and satisfactory results.

Objetivos: Reportar y evaluar la efectividad de una técnica quirúrgica, previamente descrita para el tratamiento de microtias, basado en un nuevo concepto de clasificación anátomo-quirúrgica. Material y Método: Estudio retrospectivo de pacientes tratados en el Hospital Militar y Clínica Alemana de Santiago en el Servicio de Cirugía Plástica desde enero de 2008 hasta diciembre de 2010. Se reclutaron a un total de 15 pacientes, 13 (87 por ciento) de los cuales eran unilaterales y 2 (13 por ciento) bilaterales. A todos los pacientes se les realizó la reconstrucción mediante técnica quirúrgica de Firmin. Resultados: Se operó a 15 pacientes de rango de edad entre 9 y 25 años, con una mediana de 11 años. De los casos unilaterales; 7 correspondían a tipo I de Firmin, 5 casos a tipo II Firmin y un caso tipo IIIa. De los casos bilaterales, ambos tenían microtia tipo IIIb. Se logró en la totalidad de los casos unilaterales una buena proyección inicial del marco cartilaginoso durante el primer tiempo quirúrgico. Seis casos fueron sometidos a un segundo tiempo quirúrgico. Durante el seguimiento mínimo de 18 meses, se observaron complicaciones en 4 (16 por ciento) pacientes. Conclusiones: Se comprueba que mediante una técnica basada en la clasificación anátomo-quirúrgica, los resultados a corto plazo fueron favorables y satisfactorios.

[Dosage of drugs for cerebrospinal administration]. / Dosificación de fármacos en administración cerebroespinal.

OBJECTIVE: To review the most appropriate doses and routes within cerebrospinal - intrathecal, intraventricular, epidural - administration for drugs most commonly used in daily practice as reported in the literature, with particular emphasis on pediatric use. METHOD: A systematic, sequential, repetitive search of tertiary sources primarily and then primary sources in MEDLINE (Pubmed) and GOOGLE by combining each individual drug name with "intrathecal OR intraventricular OR epidural", and then differentiating between data referring to the pediatric and adult populations. RESULTS: In all, 28 drugs within 5 groups are described: anti-infectious, analgesic, and anti-neoplastic agents, corticoids, and other. Doses are categorized by population type: pediatric (newborns, infants, children) and adult. CONCLUSIONS: The relevance of this administration route and its potential use do not correlate with its scant reporting in the literature, except for anti-infectious, analgesic and cytostatic agents. Only five of these drug types are officially approved for cerebrospinal administration according to their prescribing information (polymyxin B, colistin, cytarabine, baclofen and morphine). Of these, only polymyxin B and colistin are indicated for the whole of the pediatric population.

[Diagnostic methodology in muscular pathologies]. / Metodología diagnóstica en la patología muscular.

AIMS: To analyse the different methodologies and their technical approaches, and compare the value and specificity of each of them in the diagnostic interpretation of muscular biopsies. DEVELOPMENT: Since the first descriptions by Duchenne in the 19th century, a series of stages for interpreting muscular biopsies crucial to the methodological approach were developed. The largest groups of muscular diseases (neurogenic atrophy, dystrophy and others), which were established on the basis of purely morphological studies, were later examined using histochemical techniques that allowed some diseases to be considered on an individual basis. One decisive factor in interpreting muscular biopsies and in diagnostic accuracy was the application of immunohistochemical techniques. The discovery of the gene responsible for Duchenne and Becker muscular dystrophies, and the later identification of dystrophin using reverse genetics, triggered off a series of events which led to the identification of various genes and proteins responsible for a number of muscular diseases. From that moment onwards it became possible to distinguish between previously undefined muscular dystrophies, e.g. different types of limb girdle dystrophy, to subclassify allelic diseases, such as Becker muscular dystrophy, and to identify carriers of X-linked diseases, for example. Ultrastructural examinations have also proved to be very useful. CONCLUSION: At present, the degree of diagnostic accuracy achieved in muscular pathologies is remarkable and the discoveries that have gradually been made have marked a series of stages, none of which has excluded the one preceding it and all of which are of great importance when it comes to interpreting a muscular biopsy.

Cyto-injury factors in urine: a possible mechanism for the development of interstitial cystitis.

PURPOSE: In most of our patients with interstitial cystitis (IC), the disease is associated with an increased urothelial permeability whose cause has not been identified. We postulate that both normal urine and the urine of IC patients contains factors capable of injuring the mucosa and causing an increased permeability that would allow urine components to leak into the bladder muscle. To test this hypothesis, we examined fractions of normal urine for toxic effects on bladder smooth muscle and epithelial cells in vitro. In the same in vitro system, we measured the effects of Tamm-Horsfall protein (THP), a normal urinary glycoprotein that may be a scavenger of injurious agents capable of "detoxifying" normal metabolic products. MATERIALS AND METHODS: Human urothelial cells (T24) and rabbit bladder smooth muscle cells were incubated overnight with various fractions prepared from healthy volunteers' urine. The urine fractions of molecular weights >100 Da were incubated overnight with either urothelial or smooth muscle target cells after no treatment or after heating to 56C, preincubation with THP, exposure to heparin, or elution from heparin. Cytotoxicity was determined for each group using a neutral red uptake assay. RESULTS: Urine fractions of molecular weight 500 to 1000 Da were cytotoxic to smooth muscle cells (39%) and urothelial cells (50%). Cytotoxicity levels for THP-treated fractions were significantly lower than those for untreated fractions in both urothelial cells (7% versus 89%, p <0. 001) and smooth muscle cells (8% versus 70%, p <0.01). Fractions exposed to heparin were less cytotoxic to smooth muscle cells (20%) than were untreated fractions (27%). Fractions eluted from heparin were also cytotoxic to urothelial cells (42%). CONCLUSIONS: Normal human urine contains heat labile, cationic components of low molecular weight that bind to heparin. These components, when separated from the bulk of the urinary wastes, are cytotoxic to urothelial cells as well as underlying smooth muscle cells, indicating their potential for causing bladder mucosal injury. The cytotoxic activity can be blocked by the presence of THP. This urinary cytoprotective activity of THP may play an important but unrecognized role in the development of IC.

In breast cancer, amplification of the steroid receptor coactivator gene AIB1 is correlated with estrogen and progesterone receptor positivity.

The AIB1 gene was isolated upon microdissection of the homogeneously staining regions observed in breast cancer cell lines. It was subsequently shown to map at a region at 20q12 that is frequently amplified in breast tumors. In a screen of breast tumor cell lines, of all the genes mapping to the region, AIB1 appeared to be the most consistently amplified and overexpressed. AIB1 shares homology with the SRC-1 family of nuclear receptor coactivators. It was found to interact in a ligand-dependent manner with the estrogen receptor (ER) and to result in increased levels of estrogen-dependent transcription. These properties could be of important biological significance in breast and ovarian cancerigenesis, and we were, therefore, interested in determining whether the amplification of the AIB1 gene was associated with a particular phenotype or subgroup in these tumors. We tested a population of 1157 breast and 122 ovarian tumors in which DNA amplification had been determined previously at 15 chromosomal locations. Amplification of the AIB1 gene was observed in 4.8% of breast cancers and 7.4% of ovarian cancers. In breast tumors, AIB1 was correlated with ER and progesterone receptor positivity, as well as with tumor size. Correlation was also observed with the amplification of MDM2 and FGFR1 genes, but interestingly, no correlation was found with the amplification of CCND1, which is known to be strongly associated with ER. Furthermore, analyzing at 20q12-q13 range, we show the existence of three amplification cores, represented by AIB3/AIB4, AIB1, and RMC20C001. AIB1 and CCND1 amplifications may, thus, represent two different subsets of ER-positive breast tumors.

Relaxed cell-cycle arrests and propagation of unrepaired chromosomal damage in cancer cell lines with wild-type p53.

The role of the p53 protein in mediating G1 and G2 cell-cycle arrests after genotoxic insult has been clearly and reproducibly established in primary diploid fibroblasts, but data obtained from p53 wild-type (wt) cancer cell lines are inconsistent. Furthermore, a large proportion of human tumors have p53 wt genotypes but present genetic aberrations that may result from defective cell-cycle checkpoints. We therefore investigated the integrity of G1/S and G2/M cell-cycle arrests in p53 wt cancer cell lines. In the study presented here, we showed that in most cancer cells tested, G1 arrest was relaxed or absent in comparison with arrest in normal diploid fibroblasts, despite seemingly normal p53 and p21 responses. Two cell lines (MCF7 and HCT116) were synchronized in G0/G1 by leucine starvation and subjected to genotoxic stress to determine more precisely the relative proportion of cells arresting in G1 and G2. Whereas the MCF7 cells showed consistent G1 arrest, the HCT116 cells showed none at all. Furthermore, cell-cycle arrests in G1 and G2 in response to gamma irradiation and bleomycin treatment were transient, as the cells resumed cycling after 48-72 h. The cells resuming proliferation suffered massive apoptosis, but a proportion of the cells were rescued and showed normal doubling times. These cells retained a p53 wt genotype but presented gross chromosomal aberrations in 15-20% of the analyzed metaphases. The aberrations were not clonal. These data show that p53 wt cancer cells have relaxed cell-cycle controls after genotoxic insult and tolerate unrepaired chromosomal damage, despite normal p53 function.

Cardiovascular disturbances caused by extradural negative pressure drainage systems after intracranial surgery.

Extradural drainage systems connected to a vacuum device for preventing postoperative haematoma formation are often used in neurosurgical practice. Cardiovascular complications, including bradycardia or low arterial pressure caused by intracranial hypotension, have been described associated with their use. We have investigated the relationship between the negative pressure applied to extradural drainage systems and intracranial pressure (ICP), and analysed the effects of negative pressure of the drains on systolic (SAP), diastolic (DAP) and mean (MAP) arterial pressures and on heart rate (HR). We studied prospectively 15 patients undergoing neurosurgery for supratentorial tumours or aneurysms. Transient decreases in ICP (P < 0.001) and HR (P < 0.001), with no clinical effects, were observed after connecting the vacuum device to the drain. There were no significant changes in SAP, DAP or MAP.

[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. / Gamma-sarcoglicanopatía: estudio clinicopatológico y genético de 11 casos.

INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.

[Dystrophinopathies, congenital muscular dystrophy, limb-girdle dystrophies: updated classification]. / Distrofinopatías, distrofia muscular congénita y distrofias de cinturas: clasificación actualizada.

OBJECTIVES: To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracellular matrix. To show that an accurate diagnosis is necessary and that it can be adequately made in neuromuscular pathology laboratories. DEVELOPMENT: We present a study of the different types of LGMDs, dystrophinopathies and congenital muscular dystrophy. We emphasize the recent events which concluded in the identification of these disorders, the genetic alteration, the defective proteins and, briefly, the clinical features. CONCLUSIONS: The recent identification of numerous skeletal muscle proteins and of the codifying genes made possible a new classification of a large group of muscular dystrophies. The possibility to study these proteins on the muscle biopsy with immunohistochemistry and Western blot techniques indicates the need of an accurate diagnosis in specialized neuromuscular laboratories. Since there is a great number of genes discovered and of mutations within the same gene, and the clinical picture of different diseases can be similar, a previous study of the protein is advisable as a guide for a further genetic study.

CCND1 and FGFR1 coamplification results in the colocalization of 11q13 and 8p12 sequences in breast tumor nuclei.

The CCND1 gene, localized to chromosome band 11q13, is amplified in approximately 15% of human primary breast tumors. From 30 to 40% of the tumors presenting this amplification show concomitant amplification at the FGFR1 locus in 8p12. Similarly, MDA-MB-134 breast cancer cells bear CCND1 and FGFR1 coamplified, resulting in the formation of a hybrid intrachromosomal amplification assembling 11q13 and 8p12 sequences. To learn whether similar amplified structures arise in breast tumors, we used a two-color FISH approach on interphase nuclei. A cohort of 225 breast tumors was analyzed by Southern blotting and a subset of 12 tumors presenting the 11q13-8p12 coamplification was selected for further study by interphase FISH. In 6/12 tumors the FISH signals for 11q13 and 8p12 probes formed colocalizing clusters of green and red spots in the nuclei. The FISH patterns were identical to those observed on MDA-MB-134 interphase nuclei hybridized with 11q13 and 8p12. These data, suggesting the formation in these tumors of a hybrid amplification domain in which 11q13 and 8p12 sequences are joined, were reinforced by dual-color FISH on extended chromatin showing that the said were sequentially aligned in these tumors. Furthermore, 3/6 nuclei with colocalized 11q13 and 8p12 amplifications showed fusion of centromeric sequences from chromosomes 8 and 11. Our data strongly suggest the occurrence, in approximately 3% of primary breast tumors, of a recurrent rearrangement involving the proximal portions of 8p and 11q and resulting in the formation of a hybrid amplified structure composed of 11q13 and 8p12 sequences.

[Pressure pneumocephalus after posterior fossa surgery in the sitting position]. / Neumoencéfalo a tensión tras cirugía de la fosa posterior en sedestación.

Pneumocephalus occurs commonly soon after intracranial surgery. When it presents as a significant increase in intracranial pressure it is called pressure pneumocephalus, a severe, life-threatening complication of neurosurgery that requires immediate treatment. Tension pneumocephalus must be suspected in patients unexpectedly fail to awaken at the end of surgery or who present progressive neurological deterioration after posterior fossa surgery. Diagnosis is by computerized axial thomography of the brain. Treatment is simple, consisting of promptly releasing the pressurized gas by trephination to save the patient's life or prevent severe neurological sequelae. We report two cases of pressure pneumocephalus that illustrate several risk factors: sitting position during surgery, preoperative hydrocephaly, surgical opening of the fourth ventricular and the presence of cerebrospinal shunt during surgery.

[Effects of precurarization on oxygen arterial saturation measure with pulse oximetry and neuromuscular function]. / Efectos de la precurarización sobre la saturación arterial de oxígeno medida por pulsioximetría y la función neuromuscular.

OBJECTIVE: To study changes in arterial oxygen saturation (SpO2) measured by pulse oximetry, and the effect of neuromuscular function after precurarization with different nondepolarizing muscle relaxants. PATIENTS AND METHOD: One hundred twenty-four patients scheduled for elective surgery were randomly assigned to four groups according to the NDPMR received: d-tubocurarine 0.05 mg/kg, atracurium 0.05 mg/kg, vecuronium 0.01 mg/kg or pancuronium 0.015 mg/kg. We recorded SpO2 before precurarization and 4 minutes after administering the dose. We also recorded signs and symptoms of muscle weakness after the 4-minute period of precurarization. RESULTS: We observed a statistically significant decrease in SpO2 4 minutes after starting precurarization in the groups receiving pancuronium, vecuronium and atracurium. These three groups were also significantly different from the d-tubocurarine group with regard to signs and symptoms of muscle weakness; the incidences of such symptoms were similar among the three groups, the only exception being the greater difficulty patients in the pancuronium group had in maintaining the Valsalva maneuver for 10 seconds. The lowest incidence of clinical signs of muscle weakness were in the d-tubocurarine group. We found a significant relation between decreased SpO2 caused by precurarization and the variables of inability to maintain the Valsalva maneuver for 10 seconds and to raise the head for more than 4 seconds. CONCLUSIONS: SpO2 measured by pulse oximetry is an effective method for monitoring breathing function in the precurarized patient, as it detects early changes in arterial oxygen saturation related to respiratory muscle weakness. The agent d-tubocurarine is recommended for precurarization, because of its scarce effect on neuromuscular function at the dose used in this study.

p53 mutations in breast cancer: incidence and relations to tumor aggressiveness and evolution of the disease.

Breast cancer is a polymorphic disease and, until now, nodal invasion and steroid receptor levels remain the most powerful and widely used prognostic indicators. Molecular oncology has proven the importance of somatic genetic events in cancer genesis and evolution. In breast cancer a number of genetic aberrations have been proposed to bear impact on disease outcome. Greatest significance has been associated to ERBB2 amplification and overexpression. More recently p53 mutations have been suggested to bear meaning in terms of cancer evolution. We discuss here the molecular epidemiology of p53 mutations in human breast tumors and the clinico-pathological significance that can be associated to them.

Anticuerpos anti cisticercos (Taenia Solium) en niños con síndrome convulsivo

Con el propósito de conocer la frecuencia de neurocisticercosis como causa de síndrome convulsivo en niños, se estudiaron 50 niños que consultaron al hospital de Coatepeque por síndrome convulsivo. A todos los niños se les investigó la presencia de anticuerpos anticisticerco en el LCR. De los 50 niños estudiados, 7(14 por ciento ) fueron positivos. Estos datos demuestran la importancia de la neurocisticercosis como causa de convulsiones en niños, lo que debe alertar a los clínicos, ya que en la actualidad esta infección parasitaria es susceptible de tratamiento médico

Specific antibody-dependent killing of Toxoplasma gondii by normal macrophages.

The requirement for specificity of antibody-dependent inhibition or killing of intracellular Toxoplasma gondii trophozoites by normal mouse peritoneal macrophages was evaluated in vitro using light microscopy and autoradiography. Anti-toxoplasma antibody in the presence of 'accessory factor' rendered extracellular T. gondii trophozoites non-viable and non-infectious for cells, whereas exposure of extracellular trophozoites to heat-inactivated immune serum did not appear to damage the parasites. Although pretreatment of extracellular trophozoites with heat-inactivated immune serum neither diminished nor prevented infection of normal mouse peritoneal macrophages, it did confer upon macrophages the ability to inhibit or kill the organisms once they were intracellular. In contrast, pretreatment of trophozoites with either heat-inactivated normal or Besnoitia jellisoni immune serum did not enable normal macrophages to inhibit or kill T. gondii; rather, such organisms multiplied intracellularly in normal macrophages. Thus, pretreatment with specific antibody alone prepared T. gondii trophozoites for intracellular destruction by normal mouse peritoneal macrophages. These results suggest that spesific antibody acting in concert with normal macrophages may play a role in controlling infection with T. gondii.

Induction of resistance to Toxoplasma gondii in human macrophages by soluble lymphocyte products.

Autoradiography and light microscopy were used to study the effects of lymphocyte culture supernatants, prepared under a variety of conditions, on the course of intracellular Toxoplasma gondii infection in human monocyte-derived macrophages in vitro. Supernatants prepared by incubating lymphocytes of dye test- (DT) positive subjects with T. gondii lysate antigen (TLA), lymphocytes of DT/negative subjects with streptokinase-streptodornase (SK-SD), or both populations of lymphocytes with concanavalin A (Con A) were capable of activating macrophages to inhibit or kill intracellular T. gondii. Supernatants prepared with the homologous antigen (TLA) to the target organism appeared more active in conferring resistance to infection with T. gondii on macrophages than those prepared with a heterologous antigen (SK-SD) or mitogen (Con A). The number of lymphocytes was critical in preparing active supernatants. These results suggest that soluble lymphocyte mediators can activate human macrophages in vitro to inhibit or kill T. gondii.