El laberinto político judicial de la corrupción Una mirada sobre las causas de corrupción de los juzgados de Comodoro Py

En las últimas décadas la opinión pública argentina ha demostrado una preocupación central por la corrupción política. La percepción ciudadana sobre el involucramiento de funcionarios públicos en casos de corrupción y la baja capacidad del Estado para lidiar con este problema han sido inquietudes sumamente frecuentes en múltiples encuestas de opinión. Aun así, el accionar de los jueces sobre las causas de corrupción ha sido insuficientemente investigado por la Ciencia Política. En esta investigación se analiza el manejo de las causas de corrupción de funcionarios públicos en la Justicia Nacional en lo Criminal y Correccional Federal y el impacto de la influencia política en el comportamiento de los magistrados. Se identifica mediante un análisis estadístico cuáles son posibles factores que explican la extensa y variable duración, así como las resoluciones que los expedientes de esta jurisdicción obtienen. A través de un análisis empírico de 150 causas de corrupción que van desde 1992 hasta 2019, donde 113 funcionarios que ocuparon más de 70 cargos diferentes se encuentran o encontraron comprometidos, se concluye que el tiempo en que el proceso penal se desarrolla, así como las sentencias con las que finalizan estas causas, pueden variar según la capacidad de influencia de los funcionarios sobre los jueces. Se presenta evidencia empírica que demuestra que las causas de corrupción de los imputados que estuvieron en funciones al momento de cierre del expediente, así como los funcionarios que han ocupado un cargo de rango alto en la Administración pública, no sólo han durado menos tiempo que las de los ex funcionarios y de los cargos de menor jerarquía, sino que también han obtenido sentencias más favorables

Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a genetic bone dysplasia characterized by osteopenia and easy susceptibility to fracture. Symptoms are most prominent during childhood. Although antiresorptive bisphosphonates have been widely used to treat pediatric OI, controlled trials show improved vertebral parameters but equivocal effects on long‐bone fracture rates. New treatments for OI are needed to increase bone mass throughout the skeleton. Sclerostin antibody (Scl‐Ab) therapy is potently anabolic in the skeleton by stimulating osteoblasts via the canonical wnt signaling pathway, and may be beneficial for treating OI. In this study, Scl‐Ab therapy was investigated in mice heterozygous for a typical OI‐causing Gly→Cys substitution in col1a1 . Two weeks of Scl‐Ab successfully stimulated osteoblast bone formation in a knock‐in model for moderately severe OI (Brtl/+) and in WT mice, leading to improved bone mass and reduced long‐bone fragility. Image‐guided nanoindentation revealed no alteration in local tissue mineralization dynamics with Scl‐Ab. These results contrast with previous findings of antiresorptive efficacy in OI both in mechanism and potency of effects on fragility. In conclusion, short‐term Scl‐Ab was successfully anabolic in osteoblasts harboring a typical OI‐causing collagen mutation and represents a potential new therapy to improve bone mass and reduce fractures in pediatric OI. © 2013 American Society for Bone and Mineral ResearchPeer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/95242/1/1717_ftp.pd

Impacto de la forma de administración de insulina en la calidad de vida de niños y adolescentes con Diabetes tipo 1: revisión sistemática

Introducción: La Diabetes Mellitus es una de las enfermedades más prevalentes mundialmente. Concretamente el manejo de la Diabetes tipo I (DM1) en niños y adolescentes ha supuesto un reto para el desarrollo de nuevas tecnologías que permitan manejar la enfermedad y, por ende, mejorar la calidad de vida de los pacientes. Desde los principios del tratamiento con inyecciones de insulina hasta los sistemas de infusión continua de insulina más novedosos se ha evolucionado de forma notable, con la meta de mejorar la calidad de vida y los parámetros de control glucémico en dichos pacientes. Objetivos: El objetivo principal de esta revisión es determinar el impacto de los nuevos sistemas de infusión de insulina en la calidad de vida de niños y adolescentes con diabetes tipo 1. Metodología: Se realizó una búsqueda bibliográfica sobre la influencia de los nuevos sistemas de infusión continua de insulina en la calidad de vida en niños y adolescentes con DM1 en las bases de datos: MEDLINE (a través de PubMed), SCOPUS, CINAHL, SciELO (Web of Science) y COCHRANE desde enero del 2024 hasta marzo del 2024. Resultados: 18 artículos fueron seleccionados del total de la búsqueda. Se clasificaron según el tipo de estudio encontrado, autor, año, muestra y conclusiones. Además, se expusieron los datos obtenidos según el impacto de los sistemas de Infusión Continua de insulina en los parámetros glucémicos y en la calidad de vida de los pacientes pediátricos en cada estudio. Discusión: Los resultados se clasificaron según los objetivos de los estudios y las conclusiones obtenidas en cuanto al control glucémico, HbA1 y el TIR en niños con DM1 en tratamiento con dispositivos de infusión continua de insulina y por otro lado, en cuanto al impacto directo en la calidad de vida en dichos pacientes pediátricos. Conclusión: La revisión concluyó con la efectividad de los SICI, así como de la MCG y otras tecnologías en la mejora de la calidad de vida en la mayoría de los niños ya adolescentes con DM1, así como el impacto beneficioso en el control de los diferentes parámetros glucémicos

Bone robusticity in two distinct skeletal dysplasias diverges from established patterns

Achondroplasia (ACH) is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta (OI) is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de‐identified bone age films from 20 individuals with ACH, 39 individuals with OI and 37 age‐ and sex‐matched controls (matched to historical measurements from the Bolton–Brush Collection). We calculated robustness (Tt.Ar/Le) and relative cortical area (Ct.Ar/Tt.Ar) from measurements of the second metacarpal, which reflect overall bone health. Relative cortical area (RCA) is a significant predictor of fracture risk and correlates with robustness at other sites. Individuals with OI had RCH values above and robustness values below that of the control population. Bisphosphonate treatment did not significantly impact either robustness or RCA. In contrast to that reported in the unaffected population, there was no sexual dimorphism found in OI robustness or relative cortical area. We suggest that the underlying collagen abnormalities in OI override sex‐specific effects. Individuals with ACH had robustness values above and RCA values below that of the control population. Sexual dimorphism was found in ACH robustness and RCH values. Clinical significance: Identifies morphologic trends in two distinct skeletal dysplasia populations (OI and ACH) to better understand development of bone robusticity and slenderness in humans. Understanding these patterns of bone morphology is important to predict how individuals will respond to treatment and to increase treatment effect. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:2392–2396, 2017.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/139130/1/jor23543_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/139130/2/jor23543.pd

XX males SRY negative: a confirmed cause of infertility

BACKGROUND: SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is considered to be the direct target gene of the protein encoded by SRY and its overexpression in an XX murine gonad can lead to male development in the absence of Sry. Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46,XY duplicated persons were completely normal and fertile whereas the 46,XX ones were males who came to clinical attention because of infertility. METHODS AND RESULTS: We report a family with two azoospermic brothers, both 46,XX, SRY negative, having a 96 kb triplication 500 kb upstream of SOX9. Both subjects have been analyzed trough oligonucleotide array-CGH and the triplication was confirmed and characterised through qPCR, defining the minimal region of amplification upstream of SOX9 associated with 46,XX infertile males, SRY negative. CONCLUSIONS: Our results confirm that even in absence of SRY, complete male differentiation may occur, possibly driven by overexpression of SOX9 in the gonadal ridge, as a consequence of the amplification of a gene desert region. We hypothesize that this region contains gonadal specific long-range regulation elements whose alteration may impair the normal sex development. Our data show that normal XX males, with alteration in copy number or, possibly, in the critical sequence upstream to SOX9 are a new category of infertility inherited in a dominant way with expression limited to the XX background

Caracterización del origen del ligamento suspensorio en miembro anterior de equinos mediante ultrasonido y resonancia magnética

El objetivo del estudio fue describir la anatomía normal del origen del ligamento suspensorio del miembro anterior de equinos de trabajo, mediante el análisis de ultrasonido y resonancia magnética. Se examinaron clínicamente equinos de trabajo destinados a un frigorífico, constatando ausencia de lesiones en el ligamento suspensorio de miembros anteriores. Luego se realizó el análisis mediante ultrasonido y posteriormente a la faena se procedió al examen de resonancia magnética con las piezas cadavéricas previamente acondicionadas. Se obtuvieron imágenes transversales y longitudinales por ultrasonido. Con resonancia magnética se adquirieron imágenes longitudinal, transversal y dorsal. En ambos métodos diagnósticos se lograron medidas del diámetro dorso-palmar y latero-medial. Las imágenes en corte transversal de ultrasonido demostraron la forma rectangular del ligamento suspensorio y en imágenes longitudinales se observó el característico alineamiento fibrilar del ligamento. En cuanto a la evaluación mediante resonancia magnética, en imágenes transversales se visualizó una forma bilobulada del ligamento con una zona central oscura, y una periférica blanca debido a las intensidades de señal que adoptaron los diferentes tejidos que lo conformaron. En la imagen longitudinal se vio un aspecto de banda lisa y uniforme. En la imagen dorsal se visualizaron como líneas verticales, siendo la intensidad de la señal de intermedia a alta. La ultrasonografía y la resonancia magnética nos permitieron evaluar la constitución tisular variada que presentó el origen del ligamento suspensorio

Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.

Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes. Autosomal recessive mutations in a number of genes have also been described, including the BMP1 gene that encodes the mammalian Tolloid (mTLD) and its shorter isoform bone morphogenic protein-1 (BMP1). To date, less than 20 individuals with OI have been identified with BMP1 mutations, with skeletal phenotypes ranging from mild to severe and progressively deforming. In the majority of patients, bone fragility was associated with increased bone mineral density (BMD); however, the full range of phenotypes associated with BMP1 remains unclear. Here, we describe three children with mutations in BMP1 associated with a highly variable phenotype: a sibship homozygous for the c.2188delC mutation that affects only the shorter BMP1 isoform and a further patient who is compound heterozygous for a c.1293C>G nonsense mutation and a c.1148G>A missense mutation in the CUB1 domain. These individuals had recurrent fractures from early childhood, are hypermobile and have no evidence of dentinogenesis imperfecta. The homozygous siblings with OI had normal areal BMD by dual energy X-ray absorptiometry whereas the third patient presented with a high bone mass phenotype. Intravenous bisphosphonate therapy was started in all patients, but discontinued in two patients and reduced in another due to concerns about increasing bone stiffness leading to chalk-stick fractures. Given the association of BMP1-related OI with very high bone material density, concerns remain whether anti-resorptive therapy is indicated in this ultra-rare form of OI.© 2016 Wiley Periodicals, Inc

Zebrafish : a resourceful vertebrate model to investigate skeletal disorders

Animal models are essential tools for addressing fundamental scientific questions about skeletal diseases and for the development of new therapeutic approaches. Traditionally, mice have been the most common model organism in biomedical research, but their use is hampered by several limitations including complex generation, demanding investigation of early developmental stages, regulatory restrictions on breeding, and high maintenance cost. The zebrafish has been used as an efficient alternative vertebrate model for the study of human skeletal diseases, thanks to its easy genetic manipulation, high fecundity, external fertilization, transparency of rapidly developing embryos, and low maintenance cost. Furthermore, zebrafish share similar skeletal cells and ossification types with mammals. In the last decades, the use of both forward and new reverse genetics techniques has resulted in the generation of many mutant lines carrying skeletal phenotypes associated with human diseases. In addition, transgenic lines expressing fluorescent proteins under bone cell- or pathway- specific promoters enable in vivo imaging of differentiation and signaling at the cellular level. Despite the small size of the zebrafish, many traditional techniques for skeletal phenotyping, such as x-ray and microCT imaging and histological approaches, can be applied using the appropriate equipment and custom protocols. The ability of adult zebrafish to remodel skeletal tissues can be exploited as a unique tool to investigate bone formation and repair. Finally, the permeability of embryos to chemicals dissolved in water, together with the availability of large numbers of small-sized animals makes zebrafish a perfect model for high-throughput bone anabolic drug screening. This review aims to discuss the techniques that make zebrafish a powerful model to investigate the molecular and physiological basis of skeletal disorders

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly

Osteogenesis imperfecta (OI) is a genetic disorder characterised by low bone mineral density resulting in fractures. 85-90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern of inheritance. However, within the last two decades, there have been growing number of variants identified in genes that follow an autosomal recessive pattern of inheritance. Our proband is a child born in Mexico with multiple fractures of ribs, minimal calvarial mineralisation, platyspondyly, marked compression and deformed long bones. He also presented with significant hydranencephaly, requiring ventilatory support from birth, and died at 8days of age. A homozygous c.338_357delins22 variant in exon 2 of SERPINH1 was identified. This gene encodes heat shock protein 47, a collagen-specific chaperone which binds to the procollagen triple helix and is responsible for collagen stabilisation in the endoplasmic reticulum. There is minimal literature on the mechanism of action for variants in SERPINH1 resulting in osteogenesis imperfecta. Here we discuss this rare, previously unreported variant, and expand on the phenotypic presentation of this novel variant resulting in a severe, lethal phenotype of OI in association with hydranencephaly

Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BC

Decorin is a prototype member of the small leucine-rich proteoglycan family widely distributed in the extracellular matrices of many connective tissues, where it has been shown to play multiple important roles in the matrix assembly process, as well as in some cellular activities. A major interest for decorin function concerns its role in tumorigenesis, as growth-inhibitor of different neoplastic cells, and potential antimetastatic agent. The aim of our research was to investigate wide-ranged effects of transgenic decorin on breast cancer cells. To this purpose we utilized the well-characterized 8701-BC cell line, isolated from a ductal infiltrating carcinoma of the breast, and two derived decorin-transfected clones, respectively, synthesizing full decorin proteoglycan or its protein core. The responses to the ectopic decorin production were examined by studying morphological changes, cell proliferation rates, and proteome modulation. The results revealed new important antioncogenic potentialities, likely exerted by decorin through a variety of distinct biochemical pathways. Major effects included the downregulation of several potential breast cancer biomarkers, the reduction of membrane ruffling, and the increase of cell-cell adhesiveness. These results disclose original aspects related to the reversion of malignant traits of a prototype of breast cancer cells induced by decorin. They also raise additional interest for the postulated clinical application of decori