The Chingaza paramo complex is located in the Colombian eastern Cordillera, in the departments of Cundinamarca, Boyacá and Meta. Most of our current knowledge about this complex comes from studies ...conducted near Bogotá and some focal sectors in the National Natural Park Chingaza. The goal of this study was to characterize the treeline transition zone through five elevational transects. As a result, we report 11,588 occurrences and 1382 data of functional traits for plants, edaphic fauna, amphibians, reptiles, and birds. In addition, we report occurrences from two vulnerable (VU) plant species (Hedyosmum parvifolium and Centronia brachycera) and a new endemic species (Puya loca). Preliminary analyses show natural variation in the landscape, community composition and altitudinal location of transition zones along the gradient and between locations. Using this dataset, it is possible to recognize defined transitions between high Andean forests and paramo ecosystems, and their elevation turnover through their physiognomic, floristic, ecological and chorological attributes.
The series Manuals of Romance Linguistics (MRL) aims to present a comprehensive, state-of-the-art overview of Romance linguistics. It will comprise approximately 60 volumes that can either be ...consulted individually or used as a series of books providing a detailed overall picture of the current state of research in Romance linguistics. A special focus will be placed on the presentation and analysis of the smaller languages, the linguae minores.
Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary ...osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. In addition, the features of the AHO phenotype are not specific to it and a similar phenotype is also commonly observed in other syndromes. Brachydactyly type E (BDE) is the most specific and objective feature of the AHO phenotype, and several genes have been associated with syndromic BDE in the past few years. Moreover, these syndromes have a skeletal and endocrinological phenotype that overlaps with AHO/PHP. In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus. Starting with the feature of brachydactyly, this algorithm allows the differential diagnosis to be broadened and, with the addition of other clinical features, can guide genetic testing.
We reviewed our series of patients (n = 23) with a clinical diagnosis of AHO and with brachydactyly type E or similar pattern, who were negative for GNAS anomalies, and classify them according to the diagnosis algorithm to finally propose and analyse the most probable gene(s) in each case.
A review of the clinical data for our series of patients, and subsequent analysis of the candidate gene(s), allowed detection of the underlying molecular defect in 12 out of 23 patients: five patients harboured a mutation in PRKAR1A, one in PDE4D, four in TRPS1 and two in PTHLH.
This study confirmed that the screening of other genes implicated in syndromes with BDE and AHO or a similar phenotype is very helpful for establishing a correct genetic diagnosis for those patients who have been misdiagnosed with "AHO-like phenotype" with an unknown genetic cause, and also for better describing the characteristic and differential features of these less common syndromes.
La pandemia de la covid-19 puso de manifiesto el rol del Estado y de los Gobiernos en la gestión de esta situación de emergencia, así como la capacidad de los movimientos sociales para proponer ...formas de acción colectiva, de autonomía y de solidaridad. Con base en la observación de medios digitales pertenecientes a movimientos indígenas en México, Ecuador y Brasil –entre marzo de 2020 y julio de 2021– se analiza cómo estos movimientos han reorganizado sus formas de resistencia y han llevado a cabo acciones basadas en sus demandas, al visibilizar la ausencia y negligencia del Estado y establecer alianzas o asumir el reto de manera autónoma. Los casos abordados en el presente artículo permiten ampliar la comprensión sobre la potencia e importancia del accionar de los movimientos sociales, y, a la vez, proponer un entendimiento de la pandemia que atraviesa múltiples dimensiones sociales y ambientales, más allá de la cuestión sanitaria.
To report one case of retroperitoneal cystic lymphangioma in an adult patient.
We describe the case of a 70 year-old female patient who complained of periumbilical pain and progressive increases of ...abdominal perimeter over a few months. Physical examination showed a great abdominal mass; CT scan confirmed its cystic nature. The indication of surgery was established.
complete lesion excision. Pathology report showed the definitive diagnosis of cystic lymphangioma. No evidence of disease after one year.
We emphasize that it is an unfrequent type of retroperitoneal neoplasias in the adult age. We concur with other authors in the importance of complete excision.
Parkinson's disease (PD) is a quite heterogeneous disorder, thus difficulting the interpretation of transversal studies. Patients' registries and longitudinal studies can be considered as a priority ...in order to understand many still unknown aspects of the disease.
To create and follow in a longitudinal way a cohort of 300 patients with de novo PD who will be assessed and treated in a uniform way. The end-point of the project will be the donation of the brain.
This is a non-hypothesis driven project which immediate steps are: a) Inclusion of de novo PD patients; b) Application of a protocol of evaluations and treatment recommendations; c) Obtaining and maintenance of biological samples; d) Elaboration of a data base to be released on the net; e) Design and start of different studies to be performed simultaneously; and f) Brain donation. The study will be carried out by the Consorcio Parkinson across the country. Retrospective and prospective studies to be addressed in the future are of quite diverse nature, from clinical to molecular.
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