Chromosomal and SRY gene findings by FISH in patients with disorders of sexual development

Objetivo: Los trastornos del desarrollo sexual son un grupo de enfermedades congénitas que afectan la formación normal de los genitales. Dentro los mecanismos fisiopatológicos descritos existen factores genéticos causados por alteraciones cromosómicas o en los genes determinantes en la diferenciación sexual. En este trabajo se analizaron alteraciones cromosómicas y en el gen SRY como posible causa del trastorno. Se realizó cariotipo con bandas G o R y FISH para SRY en linfocitos, tejido gonadal y tejido escrotal. Materiales y métodos: La información clínica de los sujetos de investigación se obtuvo de los informes de los médicos tratantes. En 9 (73%) casos el sexo asignado fue masculino y en 3 (27%) casos fue femenino. 8 de los casos (66%) tuvieron cariotipo 46,XY; 2 casos (17%) 46,XX y en 2 casos (17%) se reportaron mosaicos con presencia de idic(Y). Un solo caso de tejido gonadal mostró mosaicismo debido a la presencia de una línea celular tetraploide. El diagnóstico clínico más frecuente fue de genitales ambiguos en 8 casos (67%). Seguido de hipospadias en 5 casos (41,7%). Conclusiones: Los resultados muestran la importancia de aplicar diferentes pruebas citogenéticas en el diagnóstico y la necesidad del seguimiento de los pacientes por un equipo transdisciplinario para abordar estas condiciones clínicas.Q4Pacientes diagnosticados con trastornos del desarrollo sexualObjective: Disorders of sexual development are a group of congenital diseases that affect the normal formation of genital structures. Within the pathophysiologic mechanisms described, there are genetic factors caused by chromosomal or sex-determining gene alterations. Therefore, chromosomal analysis is an essential priority in the diagnostic approach. Alterations in the chromosomes and the SRY gene as a cause of disorder of sexual development was analyzed herein. Material and methods: G or R-banding karyotype and FISH analyses for the SRY gene were performed in lymphocytes, gonadal tissue, and scrotal tissue in twelve cases, three cases, and one case, respectively. The clinical information was obtained from the patients’ medical reports. Results: In 9 (73%) cases, the assigned sex was male, and in 3 (27%) cases, it was female. Karyotype 46,XY was found in 8 (66%) cases, 46,XX in 2 (17%) cases, and mosaic karyotype in 2 (17%) cases with idic(Y). A single case of gonadal tissue showed mosaicism due to the presence of a tetraploid cell line. The most common clinical diagnosis was abnormal genital differentiation in 8 (67%) cases, followed by hypospadias in 5 (41.7%) cases. Conclusions: The results show the importance of applying different cytogenetic tests in making the diagnosis, and the need for a multidisciplinary team to address the disorder.https://orcid.org/0000-0001-7501-7307https://orcid.org/0000-0002-0729-6866https://orcid.org/0000-0002-1421-3619https://orcid.org/0000-0001-6336-5347https://orcid.org/0000-0001-8528-4433https://orcid.org/0000-0002-2231-4321https://orcid.org/0000-0002-7856-7213https://orcid.org/0000-0003-2241-7854https://orcid.org/0000-0002-9675-5963https://orcid.org/0000-0001-5685-8354https://orcid.org/0000-0002-0826-6191Revista Internacional - IndexadaCN

To-many or to-one? All-in-one! Efficient purely functional multi-maps with type-heterogeneous hash-tries

An immutable multi-map is a many-to-many map data structure with expected fast insert and lookup operations. This data structure is used for applications processing graphs or many-to-many relations as applied in compilers, runtimes of programming languages, or in static analysis of object-oriented systems. Collection data structures are assumed to carefully balance execution time of operations with memory consumption characteristics and need to scale gracefully from a few elements to multiple gigabytes at least. When processing larger in-memory data sets the overhead of the data structure encoding itself becomes a memory usage bottleneck, dominating the overall performance. In this paper we propose AXIOM, a novel hash-trie data structure that allows for a highly efficient and type-safe multi-map encoding by distinguishing inlined values of singleton sets from nested sets of multi-mappings

The statistical analysis plan for the unification of treatments and interventions for tinnitus patients randomized clinical trial (UNITI-RCT)

Background Tinnitus is a leading cause of disease burden globally. Several therapeutic strategies are recommended in guidelines for the reduction of tinnitus distress; however, little is known about the potentially increased effectiveness of a combination of treatments and personalized treatments for each tinnitus patient. Methods Within the Unification of Treatments and Interventions for Tinnitus Patients project, a multicenter, randomized clinical trial is conducted with the aim to compare the effectiveness of single treatments and combined treatments on tinnitus distress (UNITI-RCT). Five different tinnitus centers across Europe aim to treat chronic tinnitus patients with either cognitive behavioral therapy, sound therapy, structured counseling, or hearing aids alone, or with a combination of two of these treatments, resulting in four treatment arms with single treatment and six treatment arms with combinational treatment. This statistical analysis plan describes the statistical methods to be deployed in the UNITI-RCT. Discussion The UNITI-RCT trial will provide important evidence about whether a combination of treatments is superior to a single treatment alone in the management of chronic tinnitus patients. This pre-specified statistical analysis plan details the methodology for the analysis of the UNITI trial results. Trial registration ClinicalTrials.gov NCT04663828. The trial is ongoing. Date of registration: December 11, 2020. All patients that finished their treatment before 19 December 2022 are included in the main RCT analysis

Caracas, le barrio et ses habitants comme modèle

This e-article, specially created for the website "urbanités" of the Swiss National Radio RSR1, focuses on the gap between urban planning and urban dynamics in popular slums, in Caracas, Venezuela. It is also an essay in visual anthropology

Rediseño del componente de monitoreo y evaluación del proyecto Programación para Niños y Niñas; convenio de cooperación internacional suscrito entre el British Council, MEN y el MinTIC

El presente documento es un reporte de consultoría que propone un rediseño del componente de monitoreo y evaluación del proyecto de programación para Niños y Niñas que fue implementado gracias a un esfuerzo de cooperación entre el British Council Colombia, el Ministerio de Educación Nacional (MEN) y el Ministerio de Tecnologías de la Información y Comunicaciones (MinTIC).El presente documento es un reporte de consultoría que propone un rediseño del componente de monitoreo y evaluación del proyecto de programación para Niños y Niña que fue implementado gracias a un esfuerzo de cooperación entre el British Council Colombia, el Ministerio de Educación Nacional (MEN) y el Ministerio de Tecnologías de la Información y Comunicaciones (MinTIC).Magíster en Gestión PúblicaMaestrí

Spin-resolved charge density and wavefunction refinements using MOLLYNX : a review

International audienceMOLLYNX is a new crystallographic tool developed to access a more precise description of the spin-dependent electron density of magnetic crystals, taking advantage of the richness of experimental information from high-resolution X-ray diffraction (XRD), unpolarized neutron (UND) and polarized neutron diffraction (PND). This new program is based either on the well known Hansen–Coppens multipolar model ( MOLLYNX -mult) or on a new expansion over a set of atomic orbitals ( MOLLYNX -orb). The main difference between the two models is the basis of the expansion: in MOLLYNX -mult the expansion is over atom centered real spherical harmonics, in MOLLYNX -orb the expansion is over a set of atomic orbitals with which mono and bicentric contributions are calculated. This new approach of MOLLYNX -orb can also be applied to nonmagnetic crystals. This paper summarizes the theoretical ground of two models and describes the first applications to organic, organometallic and inorganic magnetic material

Self-perception, quality of life and ease of catheterization in patients with continent urinary diversion with the mitrofanoff principle

Purpose: Continent urinary diversion (CUD) with the Mitrofanoff principle stands as an alternative to urethral catheterization by a route other than the urethra. The aim of the study was to determine self-perception of health-related quality of life (HRQoQ4Q3Revista Internacional - IndexadaBS