Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

AIMS: Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in-frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently, Gly445Arg and Arg572Pro substitutions have been linked to autosomal dominant (AD) forms of calpainopathy. We report 21 affected individuals from seven unrelated families presenting with an autosomal dominant form of muscular dystrophy associated with five different heterozygous missense variants in CAPN. METHODS: We have used massively parallel gene sequencing (MPS) to determine the genetic basis of a dominant form of limb girdle muscular dystrophy in affected individuals from seven unrelated families. RESULTS: The c.700G> A, [p.(Gly234Arg)], c.1327T> C [p.(Ser443Pro], c.1333G> A [p.(Gly445Arg)], c.1661A> C [p.(Tyr554Ser)] and c.1706T> C [p.(Phe569Ser)] CAPN3 variants were identified. Affected individuals presented in young adulthood with progressive proximal and axial weakness, waddling walking and scapular winging or with isolated hyperCKaemia. Muscle imaging showed fatty replacement of paraspinal muscles, variable degrees of involvement of the gluteal muscles, and the posterior compartment of the thigh and minor changes at the mid-leg level. Muscle biopsies revealed mild myopathic changes. Western blot analysis revealed a clear reduction in calpain 3 in skeletal muscle relative to controls. Protein modelling of these variants on the predicted structure of calpain 3 revealed that all variants are located in proximity to the calmodulin-binding site and are predicted to interfere with proteolytic activation. CONCLUSIONS: We expand the genotypic spectrum of CAPN3-associated muscular dystrophy due to autosomal dominant missense variants.

A sexually dimorphic hypothalamic response to chronic high-fat diet consumption.

In this review, we discuss the observations that, following chronic high-fat diet (HFD) exposure, male mice have higher levels of saturated fatty acids (FAs) and total sphingolipids, whereas lower amounts of polyunsaturated FAs in the central nervous system (CNS) than females. Furthermore, males, when compared with female mice, have higher levels of inflammatory markers in the hypothalamus following exposure to HFD. The increase in markers of inflammation in male mice is possibly due to the reductions in proliferator-activated receptor gamma coactivator 1 alpha (PGC-1α) and estrogen receptor alpha (ERα), which is not recapitulated in female mice. Consistently, hypothalamic inflammation is induced both in male and female ERα total-body knockout mice when exposed to a HFD, thus confirming the key role of ERα in the regulation of HFD-induced hypothalamic inflammation. Finally, the HFD-induced depletion of hypothalamic ERα is associated with dysregulation in metabolic homeostasis, as evidenced by reductions in glucose tolerance and decrements in myocardial function.

Inter-rater reliability of clinical mobility measures in ankylosing spondylitis.

BACKGROUND: Several measurements are often used in daily clinical practice in the assessment of Ankylosing Spondylitis (AS) patients. The Assessment in SpondyloArthiritis International Society (ASAS) recommend in its core set: chest expansion modified Schöber test, Occiput to wall distance, lateral lumbar flexion, cervical rotation and The Bath Ankylosing Spondylitis Metrology Index (BASMI). BASMI also includes five measurements, some of them recommended by ASAS. Three versions of BASMI have been published with different scales and intervals for each component of the index. Though studies about reliability of these measurements are needed. The aim of this study was to analyze inter-rater reliability of recommended spinal mobility measures in AS. METHODS: We examined reproducibility of spinal mobility measurements on 33 AS patients performed by two experienced rheumatologists in the same day. Descriptive statistics, Intraclass Correlation Coefficients (ICC), and Smallest Detectable Difference (SDD) using the Bland-Altman criteria were obtained for all the measurements. RESULTS: Chest expansion showed the lowest value of ICC (0.66) and occiput-wall the highest (0.97). SDD was 2.43 units for BASMI2 and 1.27 units for BASMI10. CONCLUSIONS: Reliability according to ICC was moderate to high in all measurements. BASMI10, instead BASMI2, must be used: measurements used to calculate are the same but there is better reliability. Inter-rater variation, expressed as SDD, must be taken in account: smaller improvements do not demonstrate the efficacy of treatment because they can be due to experimental error and not to the treatment itself.

[Core data set for real world data in multiple sclerosis: customization for latin america from a global task force recommendation]. / Core data set para la generación de datos de la vida real en esclerosis múltiple: adaptación de una iniciativa global para América Latina.

INTRODUCTION: The primary objective of the core data set is to reduce heterogeneity and promote harmonization among data sources in EM, thereby reducing the time needed to execute real life data collection efforts. Recently, a group led by the Multiple Sclerosis Data Alliance has developed a core data set for collecting real-world data on multiple sclerosis (MS) globally. Our objective was to adapt this global data set to the needs of Latin America, so that it can be implemented by the registries already developed and in the process of development in the region. MATERIAL AND METHODS: A working group was formed regionally, the core data set created globally was adapted (translation process into Spanish, incorporation of regional variables and consensus on variables to be used). Consensus was obtained through the remote Delphi methodology of a round of questionnaires and remote discussion of the core data set variables. RESULTS: A total of 25 professionals from Latin America carried out the adaptation process between November 2022 and July 2023. Agreement was established on a core data set of nine categories and 45 variables, version 2023 to suggest its implementation in developed or developing registries, and MS cohorts in the region. CONCLUSION: The core data set seeks to harmonize the variables collected by registries and cohorts in MS in Latin America in order to facilitate said collection and allow collaboration between sources. Its implementation will facilitate real life data collection and collaboration in the region.

TITLE: Core data set para la generación de datos de la vida real en esclerosis múltiple: adaptación de una iniciativa global para América Latina.Introducción. Los objetivos primarios del core data set son reducir la heterogeneidad y promover la armonización entre las fuentes de datos en la esclerosis múltiple (EM), reduciendo así el tiempo necesario para ejecutar esfuerzos en la recolección de datos de vida real. Recientemente, un grupo liderado por la Multiple Sclerosis Data Alliance ha desarrollado un core data set para la recolección de datos del mundo real en EM a nivel global. Nuestro objetivo ha sido adaptar y consensuar este conjunto de datos globales a las necesidades de América Latina para que pueda ser implementado por los registros ya desarrollados y en proceso de desarrollo en la región. Material y métodos. Se conformó un grupo de trabajo regionalmente y se adaptó el core data set creado globalmente (proceso de traducción al español, incorporación de variables regionales y consenso sobre variables que se iban a utilizar). El consenso se obtuvo a través de la metodología Delphi remoto de ronda de cuestionarios y discusión a distancia de las variables del core data set. Resultados. Veinticinco profesionales de América Latina llevaron adelante el proceso de adaptación entre noviembre de 2022 y julio de 2023. Se estableció un acuerdo sobre un core data set de nueve categorías y 45 variables, versión 2023, con la sugerencia de implementarlo en registros desarrollados o en vías de desarrollo y cohortes de EM en la región. Conclusión. El core data set busca armonizar las variables recolectadas por los registros y las cohortes de EM en América Latina con el fin de facilitar dicha recolección y permitir una colaboración entre fuentes. Su implementación facilitará la recolección de datos de vida real y la colaboración en la región.

Beyond Janzen's Hypothesis: How Amphibians That Climb Tropical Mountains Respond to Climate Variation.

Janzen's hypothesis (JH) posits that low thermal variation selects for narrow physiological tolerances, and thus small species distributional ranges and high species turnover along tropical elevational gradients. Although this hypothesis has been intensely revisited, it does not explain how many tropical species may exhibit broad distributions, encompassing altitudinal gradients. Moreover, the physiological responses of tropical species remain largely unknown, limiting our understanding on how they respond to climate variation. To fill these knowledge gaps, we tested a major component of JH, the climate variability hypothesis (CVH), which predicts broader thermal tolerance breadth (Tbr = CTmax - CTmin) with broader temperature variation. Specifically, we sampled populations of five amphibian species distributed in two mountain ranges in Brazil's Atlantic Forest to test how CTmin and CTmax vary along elevational gradients. Since both thermal and water balance traits are pivotal to the evolutionary history of amphibians, we also measured rates of dehydration and rehydration and their relations with thermal tolerances. We found that broader temperature variation with increasing altitude did not always lead to broader Tbr, since changes in CTmin and CTmax were species-specific. In addition, we found that water balance did not show consistent variation with altitude, also with low correlations between hydric and thermal traits. While we also found that highland populations are at lower risk of thermal stress than lowland counterparts, both are living far from their upper thermal limits. As a consequence of intraspecific variation in physiological traits and spatial variation in climate along altitude, responses to climate variation in tropical amphibian species were context-dependent and heterogeneous. Together with recent studies showing thermal tolerances of some tropical amphibians comparable to temperate taxa, our findings highlight that several responses to climate variation in tropical species may not conform to predictions made by either the CVH or other important hypotheses concerning physiological variation. This reinforces the need to overcome geographical bias in physiological data to improve predictions of climate change impacts on biodiversity. (Portuguese abstract) Resumo A Hipótese de Janzen (JH) postula que a baixa variação térmica seleciona tolerâncias fisiológicas estreitas e, portanto, amplitudes restritas de distribuição das espécies e alta substituição de espécies ao longo de gradientes altitudinais tropicais. Embora intensamente revisitada, essa hipótese não explica como espécies tropicais podem exibir amplas distribuições geográficas, abrangendo gradientes altitudinais. Além disso, as respostas fisiológicas das espécies tropicais permanecem amplamente desconhecidas, limitando nossa compreensão sobre como elas respondem à variação climática. Para preencher essas lacunas de conhecimento, testamos um componente importante da JH, a Hipótese de Variabilidade Climática (CVH), que prevê uma maior amplitude de tolerância térmica (Tbr = CTmax - CTmin) quando a variação da temperatura ambiental é mais ampla. Especificamente, amostramos populações de cinco espécies de anfíbios distribuídas em duas cadeias montanhosas na Mata Atlântica do Brasil para testar como CTmin e CTmax variam ao longo de gradientes de altitude. Dado que parâmetros térmicos e do balanço hídrico são fundamentais para a história evolutiva dos anfíbios, também medimos as taxas de desidratação e reidratação e suas relações com as tolerâncias térmicas. Encontramos que uma variação de temperatura ambiental mais ampla com o aumento da altitude nem sempre conduz a uma Tbr mais ampla, uma vez que as mudanças em CTmin e CTmax foram espécie-específicas. Além disso, encontramos que o balanço hídrico não apresentou variação consistente com a mudança de altitude, e que as correlações entre parâmetros hídricos e térmicos foram baixas. Embora populações das maiores altitudes apresentaram menor risco de estresse térmico do que populações da mesma espécie em altitudes menores, ambas estão vivendo longe de seus limites térmicos superiores. Em consequência da variação intraespecífica em parâmetros fisiológicos e variação espacial no clima ao longo da altitude, as respostas à variação climática em espécies de anfíbios tropicais foram contexto-dependentes e heterogêneas. Juntamente com estudos recentes indicando tolerâncias térmicas de alguns anfíbios tropicais comparáveis a de táxons temperados, nossas descobertas destacam que várias respostas à variação climática em espécies tropicais podem não estar de acordo com as previsões feitas pela CVH ou outras hipóteses importantes sobre a variação fisiológica. Isso reforça a necessidade de superar o viés geográfico em dados fisiológicos para aperfeiçoar previsões dos impactos das mudanças climáticas sobre a biodiversidade. (Spanish abstract) Resumen La hipótesis de Janzen (JH) postula que la baja variación térmica selecciona tolerancias fisiológicas estrechas y, por lo tanto, rangos de distribución de especies restringidos con alta rotación de especies a lo largo de gradientes de elevación tropicales. Aunque esta hipótesis ha sido intensamente discutida, no explica cómo várias especies tropicales pueden exhibir distribuciones amplias, abarcando gradientes altitudinales. Además, las respuestas fisiológicas de las especies tropicales siguen siendo bastante desconocidas, lo que limita la comprensión de cómo responden a la variación climática. Para llenar estos vacíos de conocimiento, examinamos un componente importante de JH, la Hipótesis de Variabilidad Climática (CVH), que predice mayor amplitud de tolerancia térmica (Tbr = CTmax - CTmin) cuando la variación de temperatura es más amplia. Específicamente, tomamos muestras de poblaciones de cinco especies de anfibios distribuidas en dos cadenas montañosas en el Bosque Atlántico de Brasil para verificar cómo CTmin y CTmax varían a lo largo de este gradiente de elevación. Dado que los rasgos de equilibrio térmico y hídrico son fundamentales para la historia evolutiva de los anfibios, también medimos las tasas de deshidratación y rehidratación y sus relaciones con las tolerancias térmicas. Encontramos que una variación de temperatura más amplia con el aumento de la altitud no siempre conduce a una Tbr más amplia, ya que los cambios en CTmin y CTmax son específicos de la especie. Además, encontramos que el balance hídrico no muestra variación consistente con la altitud, con bajas correlaciones también entre los rasgos hídricos y térmicos. Si bien las poblaciones de las tierras altas tienen un menor riesgo de estrés térmico que las contrapartes de las tierras bajas, ambas se encuentran lejos de sus límites térmicos superiores. Como consecuencia de la variación intraespecífica en los rasgos fisiológicos y la variación espacial en el clima a lo largo de la altitud, las respuestas a la variación climática en las especies de anfibios tropicales fueron dependientes del contexto y heterogéneas. Junto con estudios recientes que muestran tolerancias térmicas de algunos anfibios tropicales comparables a los taxones de zonas templadas, nuestros hallazgos resaltan que varias respuestas a la variación climática en especies tropicales pueden no ajustarse a las predicciones hechas por el CVH u otras hipótesis importantes sobre la variación fisiológica. Esto refuerza la necesidad de superar el sesgo geográfico en los datos fisiológicos para mejorar las predicciones de los impactos del cambio climático en la biodiversidad.

Morphological evolution in Tropidurinae squamates: an integrated view along a continuum of ecological settings.

Variation in squamate foot morphology is likely relevant during evolutionary processes of habitat colonization because distinct surfaces differ in energetic and functional demands for locomotion. We combined new foot morphological data with published information of limb and tail lengths to investigate evolutionary changes possibly associated with the differential usage of ecological settings by Tropidurinae species. Several traits exhibited significant phylogenetic signal, and we performed conventional and phylogenetic regressions of PC scores (retained from Principal Components Analyses of morphometric traits) on continuous ecological indices. Tropidurines from sandy habitats exhibit larger foot soles, opposite to the evolution of narrow feet in species that use branches and rocks. Also, species that usually move along trunks present longer femora. This study provides evidence for morphological adaptations associated with substrate usage in Tropidurinae, and suggests that opposite morphological profiles might evolve associated with the use of surfaces energetically and functionally contrasting, possibly leading to trade-offs.

The evolution of jumping performance in anurans: morphological correlates and ecological implications.

We investigated the evolution of anuran locomotor performance and its morphological correlates as a function of habitat use and lifestyles. We reanalysed a subset of the data reported by Zug (Smithson. Contrib. Zool. 1978; 276: 1­31) employing phylogenetically explicit statistical methods (n = 56 species), and assembled morphological data on the ratio between hind-limb length and snout-vent length (SVL) from the literature and museum specimens for a large subgroup of the species from the original paper (n = 43 species). Analyses using independent contrasts revealed that classifying anurans into terrestrial, semi-aquatic, and arboreal categories cannot distinguish between the effects of phylogeny and ecological diversification in anuran locomotor performance. However, a more refined classification subdividing terrestrial species into 'fossorials' and 'non-fossorials', and arboreal species into 'open canopy', 'low canopy' and 'high canopy', suggests that part of the variation in locomotor performance and in hind-limb morphology can be attributed to ecological diversification. In particular, fossorial species had significantly lower jumping performances and shorter hind limbs than other species after controlling for SVL, illustrating how the trade-off between burrowing efficiency and jumping performance has resulted in morphological specialization in this group.

Development of a short olfactory test based on the Connecticut Test (CCCRC).

OBJECTIVE: To create a short olfactory test, Connecticut Smell Test (CST), based on the CCCRC (Connecticut Chemosensor and Clinical Research Center). DESIGN: A prospective patient-based study. SETTINGS: Smell and Taste Outpatient Clinic at the Fundación Hospital Alcorcón, Madrid, Spain. MATERIAL AND METHODS: We compared a short test based on the CCCRC with the Pocket Smell Test (PST) based on the University of Pennsylvania Smell Identification Test) UPSIT in 40 patients with nasal polyposis, in order to determine the specificity, sensitivity, positive predictive and negative predictive values. The validity index was 95% with an accuracy rate of 10%. We determined unit cost, the time required to perform the test in the outpatient office and the difficulty to perform the test. RESULTS: The sensibility was 93.3% and the specificity was 76% with a positive predictive value of 70% and a negative predictive value of 95%. The unitary cost of CST was euro0.65 when it is performed by a doctor. The unitary cost of PST is euro1.76. Our short test took 34 seconds to perform. More than 96% of the patients thought the test was easy to do. CONCLUSION: Our test is a valid, easy and quick test to be used in patients with nasal polyposis.

Prison infrastructure, the right to health and a suitable environment for the inmates of the Women's Annex in Chorrillos Prison (Peru).

OBJECTIVES: Decide how prison infrastructure guarantees health's right a suitable environment of Establecimiento Penitenciario Anexo de Mujeres de Chorrillos (EPAMCh) prisoners. MATERIAL AND METHOD: For the materials was used an interview guide addressed to 10 specialist and interview guide addressed to 30 prisoners. About the method, it was selected the qualitative approach, the applied type with the phenomenological design. RESULTS: The interview experts said that Establecimiento Penitenciario Anexo de Mujeres de Chorrillos current infrastructure and don´t give minima sanitary services. In the polls, the prisoners unanimously answered that conditions were precarious, but mostly said that they were willing to incorporate to a health education program and bet for a preventive medicine without forget the curative. DISCUSSION: Is Important foment the preventive medicine in order to get a strong health education in jails. To reverse this reality would mean change a guarantee in their health rights and a suitable environment.

Head shape evolution in Tropidurinae lizards: does locomotion constrain diet?

Different components of complex integrated systems may be specialized for different functions, and thus the selective pressures acting on the system as a whole may be conflicting and can ultimately constrain organismal performance and evolution. The vertebrate cranial system is one of the most striking examples of a complex system with several possible functions, being associated to activities as different as locomotion, prey capture, display and defensive behaviours. Therefore, selective pressures on the cranial system as a whole are possibly complex and may be conflicting. The present study focuses on the influence of potentially conflicting selective pressures (diet vs. locomotion) on the evolution of head shape in Tropidurinae lizards. For example, the expected adaptations leading to flat heads and bodies in species living on vertical structures may conflict with the need for improved bite performance associated with the inclusion of hard or tough prey into the diet, a common phenomenon in Tropidurinae lizards. Body size and six variables describing head shape were quantified in preserved specimens of 23 species, and information on diet and substrate usage was obtained from the literature. No phylogenetic signal was observed in the morphological data at any branch length tested, suggesting adaptive evolution of head shape in Tropidurinae. This pattern was confirmed by both factor analysis and independent contrast analysis, which suggested adaptive co-variation between the head shape and the inclusion of hard prey into the diet. In contrast to our expectations, habitat use did not constrain or drive head shape evolution in the group.

Cellular response to oxygen containing biomedical polymers modified by Ar and He implantation.

Ion beam modification is an attractive way to adapt the response of a biopolymer surface with the view to modifying cellular processes. In this work we performed Ar and He implantations into three oxygen-containing biomedical polymers: polycaprolactone (PCL), poly(ethylene glycol) (PEG) and poly(methyl methacrylate) (PMMA). An ion energy of 25keV was selected on the basis of singularities observed in simulated implantations. The implantations were carried out with fluences of 5x10(13) cm(-2) considering also the ion current density as a source of differentiated damage. The modification of the polymer structure and composition was assayed by Fourier transform infrared spectroscopy, which confirmed the selectivity of the ion current density in producing polymer film damage. Biomedical assays denoted lack of structural stability on the PMMA surfaces. Surface analysis of proteins adsorbed from fetal bovine serum on ion-beam-modified PEG were realized by quartz-crystal microbalance with dissipation, which supported the film stabilization and anti-fouling behaviour of the films. On the other hand, protein adsorption studies on micropatterned PCL surfaces were performed by time-of-flight secondary ion mass spectroscopy and revealed a clear enhancement of protein immobilization in ion-beam-modified areas. The response of human mesenchymal stem cells to the surfaces was observed to depend on the biopolymer characteristics, showing adhesion inhibition onto He-modified PEG and specially enhanced colonization onto He-irradiated PCL.

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, the 1494C-->T mutation was reported in two large Chinese pedigrees with maternally inherited NSHL. In this study, sequencing of the 12S rRNA gene in a Spanish family with maternally inherited NSHL showed the presence of the 1494C-->T mutation. An additional screening of 1339 unrelated Spanish patients with NSHL allowed the authors to find two other families with the mutation. Audiological data were obtained from 17 confirmed 1494C-->T carriers, which showed that the hearing loss was sensorineural, bilateral and symmetrical, with a remarkable variability in age of onset and severity. Three carriers were asymptomatic. Three affected carriers had a history of treatment with aminoglycoside antibiotics. The mitochondrial genome of one affected person from each of these three families was entirely sequenced, and it was established that they belong to different mitochondrial haplogroups (H, U5b, U6a). The study results further support the pathogenic role of 1494C-->T on hearing, and show that this mutation can be found in different Caucasian mitochondrial DNA backgrounds.

Hybrid titania-aminosilane platforms evaluated with human mesenchymal stem cells.

The properties of hybrid aminopropyltriethoxysilane-tetraisopropylorthotitanate (APTS-TIPT) platforms prepared by a sol-gel route have been explored, and their biocompatibility was assayed after culture of human mesenchymal stem cells (hMSCs). The organic content of this material was observed to be preferably surface-oriented as indicated by microanalytical techniques. Furthermore, the surface showed characteristic amino-silane bands when explored by Raman spectroscopy as well as indications of silane and titanate condensation. Surface activity of the amino groups was probed by ultraviolet-visible spectroscopy imine derivatization and chemical force spectroscopy, showing a pH-dependent surface charge-induced potential. hMSCs cultured onto these surfaces showed relevant differences with respect to their behavior on gelatin-coated glass plates. Even if with a lower proliferative rate than controls, the cells develop long cytosolic prolongations in osteogenic differentiation medium, thus, supporting the idea of an APTS-TIPT stimulated process.

[The use of Quality of Life Questionnaire in patients with nasal polyposis]. / Utilidad del cuestionario RSDI para la valoración de la calidad de vida en pacientes con poliposis nasal.

OBJECTIVES: Polyposis handicap evaluation through Spanish validation of the Rhinosinusitis Disability Index. MATERIAL AND METHODS: Spanish validation of the Polyposis Disability Index (PDI). One hundred and fifty one patients referred to our Nose Unit in Fundación Hospital Alcorcón. The Spanish version of the PDI was administered after translation and retrotranslation. Internal consistency and reliability were established. RESULTS: Spanish adaptation of the PDI and ists subscales (functional, emotional and physical) showed a high reliability and internal consistency (Cronbach's alfa: 0,90). CONCLUSIONS: Spanish adaptation of the PDI is valid, reliable and can be used in a clinical setting to quantify the impact of polyposis on patient's quality of life.

Progression to large B-cell lymphoma in splenic marginal zone lymphoma: a description of a series of 12 cases.

Splenic marginal zone lymphoma (SMZL) is considered to be an indolent extranodal B-cell lymphoma. Despite its low aggressivity, histologic progression has been described in sporadic reports, although the frequency, characteristics, and underlying molecular abnormalities of this phenomenon are largely unknown. We review here the clinical, morphologic, immunohistochemical, and molecular features of a series of 12 SMZL cases that showed progression to large B-cell lymphoma (LBCL). The most frequent location of secondary LBCL was in peripheral lymph node. This occurred between 12 and 85 months after diagnosis of SMZL. However, in two cases LBCL was diagnosed at the initial stage of the disease (one spleen tumoral nodule and one hilar lymph node). The histologic and immunophenotypic features of these cases were similar to those of transformed LBCL at other sites. In four cases the immunoglobulin heavy chain gene polymerase chain study revealed the same rearrangement pattern in both primary and secondary tumors, thereby confirming their identity and excluding the possibility of a second malignancy. As is the case with other low-grade lymphoproliferative disorders, SMZL may undergo high-grade transformation. These 12 cases represent 13% of our series of SMZL with adequate follow-up. The incidence of large cell transformation in SMZL seems to be lower than in follicular lymphoma (25-60%) and mantle cell lymphoma (11-39%), although it is similar to the frequency of transformation in B-chronic lymphocytic lymphoma/small lymphocytic lymphoma (1-10%). The mean proliferative index (MIB1 staining) in initial SMZL specimens of cases with LBCL transformation was 28.6%, higher than that of MIB1 staining in the overall SMZL series (21.8%), although not statistically significantly so. p53 or p16INK4a inactivation in this series was observed in only one case, in contrast with the situation observed in chronic lymphocytic leukemia, follicular lymphoma, and mantle cell lymphoma. It seems that progression in SMZL is mainly independent of p53 or p16INK4a inactivation. The frequency of the 7q deletion in this series was 3 of 7 (42%). 7q loss may play an alternative role in the inactivation of the p53 and p16INK4a pathway, thereby favoring tumoral progression.

Limb and tail lengths in relation to substrate usage in Tropidurus lizards.

A close relationship between morphology and habitat is well documented for anoline lizards. To test the generality of this relationship in lizards, snout-vent, tail, and limb lengths of 18 species of Tropidurus (Tropiduridae) were measured and comparisons made between body proportions and substrate usage. Phylogenetic analysis of covariance by computer simulation suggests that the three species inhabiting sandy soils have relatively longer feet than do other species. Phylogenetic ANCOVA also demonstrates that the three species inhabiting tree canopies and locomoting on small branches have short tails and hind limbs. These three species constitute a single subclade within the overall Tropidurus phylogeny and analyses with independent contrasts indicate that divergence in relative tail and hind limb length has been rapid since they split from their sister clade. Being restricted to a single subclade, the difference in body proportions could logically be interpreted as either an adaptation to the clade's lifestyle or simply a nonadaptive synapomorphy for this lineage. Nevertheless, previous comparative studies of another clade of lizards (Anolis) as well as experimental studies of Sceloporus lizards sprinting on rods of different diameters support the adaptive interpretation.

Parapharyngeal emphysema--an unusual complication of temporal bone trauma.

We report a case of a 36-year-old woman who suffered a temporal bone trauma due to a bicycle crash. Computed tomography revealed parapharyngeal emphysema despite only minor temporal bone changes.

Septic arthritis due to Streptococcus bovis in a patient with cirrhosis of enolic etiology.

We present a case of bacteremia and septic arthritis due to Streptococcus bovis biotype I after shock, in a patient with liver cirrhosis of enolic etiology. Diagnosis was made based on a clinical setting of fever and a painful shoulder. The presence of colonic neoplasia was ruled out in this patient and the bacteremia developed without endocarditis.

[Validation of a screening questionnaire for stroke detection in Spanish-speaking communities]. / Validación de un cuestionario para detección de ictus en poblaciones hispanoparlantes.

OBJECTIVE: To evaluate the accuracy of an screening questionnaire for stroke detection in speaking-speaking communities. PATIENTS AND METHODS: We performed a door-to-door survey in Atahualpa (a rural community in coastal Ecuador) using a modified version of the Spanish translation of the OMS questionnaire for stroke detection. Subjects suspected of having a stroke as well as a 2% sample of negative subjects were evaluated by neurologists to evaluate sensitivity, specificity, and predictive value of the questionnaire and that of each of its questions. RESULTS: We found 18 possible cases among 1,568 individuals around 15 years old. Of these, 10 were confirmed stroke patients and 8 were false-positive (crude stroke prevalence of 6.38 per 1,000). We did not find false-negative cases. Sensitivity of the questionnaire was 100%, specificity was 99.5%, positive predictive value was 0.55 and negative predictive value was 1. The accuracy of each question as well as the number of questions answered as affirmative were different between patients and false-positive cases. CONCLUSIONS: The current questionnaire is highly sensitive but its positive predictive value is poor. This causes problems in large-scale studies, as the detection of many false-positives may compromise its viability. We propose a modification of the questionnaire that will turn it more accurate.

[Fibroglandular hamartoma of the nasal cavity: case description and review]. / Hamartoma fibroglandular de fosa nasal: descripción de un caso y revisión.

A fibroglandular hamartoma of the nasal cavity was found in a patient with nasal polyposis. The only symptom had been bilateral nasal obstruction for years. The tumor was removed by lateral rhinotomy. Our initial differential diagnosis included nasal glioma and inverted papilloma, but this rare tumor was not suspected. Four years after surgery, the patient is well and the risk of recurrence is deemed to be very low. Surgeons and pathologists must be aware of these and other uncommon tumors of the nose because some may require special diagnostic and therapeutic procedures.