Very rare defects: What can we learn?

The International Clearinghouse for Birth Defects Surveillance and Research conducted a study on very rare defects (VRDs) to test methodologies in their population surveillance and to increase the knowledge of their epidemiology. Eight VRDs: acardia (AC), amelia (AM), bladder exstrophy (BE), cloaca exstrophy (CE), conjoined twins (CT), cyclopia (CY), "true" phocomelia (PH), and sirenomelia (SI) were selected, all of whom showed prevalences in the order of 1/100,000 births, except for BE: 1/48,000 births. Materials in this investigation from 25 million pregnancy outcomes, were provided by 22 Clearinghouse-member programs. The study protocol provided a working definition, a summary of the phenotypic characteristic, and a list of ICD-9 and ICD-10 codes for each VRDs. Learned lessons include: (1) The suspected associations of decreasing risk with advancing maternal age in AM and SI, and increasing risk in BE, and increasing frequency of twins in SI, were confirmed. (2) Morphologically similar defects showed dissimilar epidemiological characteristics, namely, AM and PH, and BE and CE. (3) Heterogeneity in total prevalences for most VRDs among different surveillance programs were attributed to operational reasons, except for SI and CT in which Amerindian ethnicity seems to be associated with higher prevalence. (4) Verbatim description is essential and must be stored in electronic files. In addition to codes. (5) Dysmorphologists or clinical geneticists are an essential part of the coordinating team of the surveillance program. (6) ICD coding system is insufficient. (7) Surveillance programs should be a valuable source of information on exposures to risk factors during pregnancy.Fil: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina. Instituto Nacional de Genética Médica Populacional; Brasil. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; ItaliaFil: Mastroiacovo, Pierpaolo. Centre of the International Clearinghouse for Birth Defects and Research ; Itali

Abnormal hippocampal melatoninergic system: a potential link between absence epilepsy and depression-like behavior in WAG/Rij rats?

Absence epilepsy and depression are comorbid disorders, but the molecular link between the two disorders is unknown. Here, we examined the role of the melatoninergic system in the pathophysiology of spike and wave discharges (SWDs) and depression-like behaviour in the Wistar Albino Glaxo from Rijswijk (WAG/Rij) rat model of absence epilepsy. In WAG/Rij rats, SWD incidence was higher during the dark period of the light-dark cycle, in agreement with previous findings. However, neither pinealectomy nor melatonin administration had any effect on SWD incidence, suggesting that the melatoninergic system was not involved in the pathophysiology of absence-like seizures. Endogenous melatonin levels were lower in the hippocampus of WAG/Rij rats as compared to non-epileptic control rats, and this was associated with higher levels of melatonin receptors in the hippocampus, but not in the thalamus. In line with the reduced melatonin levels, cell density was lower in the hippocampus ofWAG/Rij rats and was further reduced by pinealectomy. As expected, WAG/Rij rats showed an increased depression-like behaviour in the sucrose preference and forced swim tests, as compared to non-epileptic controls. Pinealectomy abolished the difference between the two strains of rats by enhancing depression-like behaviour in non-epileptic controls. Melatonin replacement displayed a significant antidepressant-like effect in bothWAG/Rij and control rats. These findings suggest that a defect of hippocampal melatoninergic system may be one of the mechanisms underlying the depression-like phenotype inWAG/Rij rats and that activation of melatonin receptors might represent a valuable strategy in the treatment of depression associated with absence epilepsy

Prevalence of gastroschisis at birth: Retrospective study

[No abstract available

Diseño de tablas de registro unificadas para el diagnóstico y estimación del indicador de riesgo del patrimonio cultural

[ES] La presente investigación expone los resultados obtenidos en el diseño e implementación de unas tablas de registro para el análisis, gestión y manejo de las fases preliminares de diagnóstico del patrimonio cultural. Este proyecto nace de la necesidad de encontrar un método operativo capaz de brindar un enfoque objetivo para la toma de decisiones inherentes a las evaluaciones diagnósticas y estudios específicos a realizarse sobre los bienes culturales en condiciones de recursos limitados y elevado número de obras o elementos. Debido a la abundancia de variables, factores y materiales que influyen en la conservación del patrimonio cultural, el diseño de una matriz de datos y de una metodología de muestreo unificados representan el primer paso para la comprensión de sus exigencias, además de poner las bases para el futuro desarrollo de estudios de tipo estadístico. Éstos representan un recurso óptimo siendo una rama de las matemáticas que estudia las correlaciones y dependencias entre los fenómenos físicos y naturales y han sido empleados en varias áreas del conocimiento entre las cuales destacan las ciencias sociales, la ecología, la medicina y el control de calidad en los procesos industriales. Entre las herramientas ofrecidas por las ciencias estadísticas, que se ocupan de estudiar una determinada población por medio de recolección, recopilación e interpretación de datos, el análisis exploratorio de datos (EDA) representa un medio de comprensión y formulación de hipótesis a partir de unas tablas definidas de contingencia. En este trabajo se exponen los resultados derivados del diseño e implementación de las fichas de registro y análisis de datos adaptadas para las exigencias del sector de la conservación, ofreciendo un acercamiento a sus posibilidades aplicativas, ventajas y limitaciones en relación a la resolución de casos de estudio reales tratados a lo largo de la experiencia de formación, investigación y docencia en diferentes realidades y contextos.[CA] La present investigació exposa els resultats obtinguts en el disseny i implementació d'unes taules de registre per a l'anàlisi, gestió i maneig de les fases preliminars de diagnòstic del patrimoni cultural. Aquest projecte naix de la necessitat de trobar un mètode operatiu capaç de brindar un enfocament objectiu per a la presa de decisions inherents les avaluacions diagnòstiques i estudis específics a realitzar-se sobre els béns culturals en condicions de recursos limitats i elevat nombre d'obres o elements. A causa de l'abundància de variables, factors i materials que influeixen en la conservació del patrimoni cultural, el disseny d'una matriu de dades i d'una metodologia de mostreig unificats representen el primer pas per a la comprensió de les seues exigències, a més de posar les bases per al futur desenvolupament d'estudis de tipus estadístic. Aquests representen un recurs òptim sent una branca de les matemàtiques que estudia les correlacions i dependències entre els fenòmens físics i naturals i han sigut emprats en diverses àrees del coneixement entre les quals destaquen les ciències socials, l'ecologia, la medicina i el control de qualitat en els processos industrials. Entre les eines oferides per les ciències estadístiques, que s'ocupen d'estudiar una determinada població per mitjà de recol·lecció, recopilació i interpretació de dades, l'anàlisi exploratòria de dades (*EDA) representa un mitjà de comprensió i formulació d'hipòtesi a partir d'unes taules definides de contingència. En aquest treball s'exposen els resultats derivats del disseny i implementació de les fitxes de registre i anàlisi de dades adaptades per a les exigències del sector de la conservació, oferint un acostament a les seues possibilitats aplicatives, avantatges i limitacions en relació a la resolució de casos d'estudi reals tractats al llarg de l'experiència de formació, investigació i docència en diferents realitats i contextos.[EN] This research presents the results obtained in the design and implementation of registration tables for the analysis, management and handling of the preliminary diagnostic phases of cultural heritage. This project arises from the need to find an operational method capable of providing an objective approach for making decisions inherent in diagnostic evaluations and specific studies to be carried out on cultural assets in conditions of limited resources and a high number of works or elements. Due to the abundance of variables, factors and materials that influence the conservation of cultural heritage, the design of a data matrix and a unified sampling methodology represent the first step towards understanding its requirements, in addition to laying the foundations for the future development of statistical studies. These represent an optimal resource, being a branch of mathematics that studies the correlations and dependencies between physical and natural phenomena and has been used in several areas of knowledge, among which the social sciences, ecology, medicine and quality control stand out. in industrial processes. Among the tools offered by statistical sciences, which deal with studying a certain population by means of data collection, compilation and interpretation, exploratory data analysis (EDA) represents a means of understanding and formulating hypotheses from tables defined contingency. This work presents the results derived from the design and implementation of the data registration and analysis sheets adapted to the demands of the conservation sector, offering an approach to its applicative possibilities, advantages and limitations in relation to the resolution of cases of real studies treated throughout the experience of training, research and teaching in different realities and contexts.Mastroiacovo, T. (2021). Diseño de tablas de registro unificadas para el diagnóstico y estimación del indicador de riesgo del patrimonio cultural [Tesis doctoral]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/170194TESI

Differences between computed tomoghaphy and surgical findings in acute complicated diverticulitis

Summary Background/Objective: A preoperative reliable classification system between clinical and computed tomography (CT) findings to better plan surgery in acute complicated diverticulitis (ACD) is lacking. We studied the inter-observer agreement of CT scan data and their concordance with the preoperative clinical findings and the adherence with the intraoperative status using a new classification of diverticular disease (CDD). Methods: 152 patients operated on for acute complicated diverticulitis (ACD) were retrospectively enrolled. All patients were studied with CT scan within 24 h before surgery and CT images were blinded reanalyzed by 2 couples of radiologists (A/B). Kappa value evaluated the inter-observer agreement between radiologists and the concordance between CDD, preoperative clinical findings and findings at operation. Univariate and multivariate analysis were used to evaluate the predicting values of CT classification and CDD stage at surgery on postoperative outcomes. Results: Overall inter-observer agreement for the CDD was high, with a kappa value of 0.905 (95% CI Z 0.850e0.960) for observers A and B, while the concordance between radiologica

Conjunto Costanera: edificios de uso mixto

La ciudad de Córdoba se encuentra desconectada desde su centro hacia el área noreste por la presencia de límites naturales y artificiales. El sector elegido para trabajar se ubica en el borde del Río Suquía, delimitado por los puentes Maipú y Sarmiento. “Los bordes urbanos, son las zonas que uno recorre cuando llega a la ciudad, las fachadas que uno observa y con las que uno interactúa.” (Gehl, 2010, p.75) Conjunto Costanera busca consolidar un borde urbano, a través de un espacio público nexo entre torres privadas (transición entre lo público y lo privado), donde la ciudad se encuentre con los edificios. El proyecto abarca distintas escalas urbanas, reforzando la idea de conexión peatonal y visual de la ciudad, brindando pasajes, terrazas y plazas públicas y privadas de acuerdo al programa.Fil: Mastroiacovo, Sol Melina. Universidad Católica de Córdoba. Facultad de Arquitectura; Argentina

Epidemiologic features and clinical subgroups of anotia/microtia in Texas

BACKGROUND: Few studies have investigated the epidemiologic features of clinically defined subgroups of anotia/microtia. METHODS: Data on cases of anotia and/or microtia among 1999–2005 deliveries were obtained from the Texas Birth Defects Registry, a population-based active surveillance system. We determined crude and adjusted associations between selected factors and seven clinical subgroups of anotia/microtia. RESULTS: In total, 742 cases were diagnosed with anotia and/or microtia, corresponding to a prevalence of 2.86 per 10,000 live births. Of those, 45% had no other major birth defect (“isolated”), 77% were unilateral, and 22% bilateral. Anotia alone made up 6%, whereas microtia made up 94%. Birth prevalence was higher with increasing maternal age and among Mexico-born Hispanics. Compared to white mothers, Hispanic mothers were two-to-three times more likely to have infants with all but the syndromic and bilateral groups (adjusted prevalence ratios [aPRs] = 2.05–2.61). Non-Hispanic blacks had significantly lower risk for total anotia/microtia, and for the isolated, unilateral, and microtia subgroups (aPRs = 0.42–0.64). Less educated mothers were three-to-four times more likely to have children with anotia (aPRs = 2.98 for less than high school, 3.97 for high school graduates). Males were more likely to be born with total anotia/microtia and with syndromic, unilateral, and microtia subtypes (aPRs = 1.27–1.41). CONCLUSIONS: In Texas, most anotia/microtia cases were in the unilateral and microtia groups, and 45% were isolated. Several clinical subgroups exhibited higher prevalence in males and among older mothers. Relative to whites, blacks were at lower risk and Hispanics (especially Mexico-born mothers) were at higher risk for selected types of anotia/microtia. Birth Defects Research (Part A) 2009. © 2009 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/64447/1/20626_ftp.pd

Merging the multi‐target effects of phytochemicals in neurodegeneration: From oxidative stress to protein aggregation and inflammation

Wide experimental evidence has been provided in the last decade concerning the neuroprotective effects of phytochemicals in a variety of neurodegenerative disorders. Generally, the neuroprotective effects of bioactive compounds belonging to different phytochemical classes are attributed to antioxidant, anti‐aggregation, and anti‐inflammatory activity along with the restoration of mitochondrial homeostasis and targeting alterations of cell‐clearing systems. Far from being independent, these multi‐target effects represent interconnected events that are commonly implicated in the pathogenesis of most neurodegenerative diseases, independently of etiology, nosography, and the specific misfolded proteins being involved. Nonetheless, the increasing amount of data applying to a variety of neurodegenerative disorders joined with the multiple effects exerted by the wide variety of plant‐derived neuroprotective agents may rather confound the reader. The present review is an attempt to provide a general guideline about the most relevant mechanisms through which naturally occurring agents may counteract neurodegeneration. With such an aim, we focus on some popular phytochemical classes and bioactive compounds as representative examples to design a sort of main highway aimed at deciphering the most relevant protective mechanisms which make phytochemicals potentially useful in counteracting neurodegeneration. In this frame, we emphasize the potential role of the cell‐clearing machinery as a kernel in the antioxidant, anti‐aggregation, anti‐inflammatory, and mitochondrial protecting effects of phytochemicals

Sulodexide counteracts endothelial dysfunction induced by metabolic or non-metabolic stresses through activation of the autophagic program

OBJECTIVE: Endothelial dysfunction (ED) predisposes to venous thrombosis (VT) and post-thrombotic syndrome (PTS), a long-term VT-related complication. Sulodexide (SDX) is a highly purified glycosaminoglycan with antithrombotic, pro-fibrinolytic and anti-inflammatory activity used in the treatment of chronic venous disease (CVD), including patients with PTS. SDX has recently obtained clinical evidence in the “extension therapy” after initial-standard anticoagulant treatment for the secondary prevention of recurrent deep vein thrombosis (DVT). Herein, we investigated how SDX counteracts ED. MATERIALS AND METHODS: Human umbilical vein endothelial cells (HUVEC) were used. Metabolic and non metabolic-induced ED was induced by treating with methylglyoxal (MGO) or irradiation (IR), respectively. Bafilomycin A1 was used to inhibit autophagy. The production of reactive oxygen species (ROS), tetrazolium bromide (MTT) assay for cell viability, terminal de-oxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay for cell apoptosis, Real-time PCR and Western blot analysis for gene and protein expression were used. RESULTS: SDX protected HUVEC from MGO- or IR-induced apoptosis by counteracting the activation of the intrinsic and extrinsic caspase cascades. The cytoprotective effects of SDX resulted from a reduction in a) ROS production, b) neo-synthesis and release of pro-inflammatory cytokines (TNFα, IL1, IL6, IL8), c) DNA damage induced by MGO or IR. These effects were reduced when autophagy was inhibited. CONCLUSIONS: Data herein collected indicate the ability of SDX to counteract ED induced by metabolic or non-metabolic stresses by involving the intracellular autophagy pathway. Our experience significantly increases the knowledge of the mechanisms of action of SDX against ED and supports the use of SDX in the treatment of CVD, PTS and in the secondary prevention of recurrent DVT