Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders are commonly underlying arthrogryposis. Here, we report five affected individuals from three independent families sharing an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism. Using exome sequencing, we identified homozygous truncating variants in FILIP1 in all patients. FILIP1 is a regulator of filamin homeostasis required for the initiation of cortical cell migration in the developing neocortex and essential for the differentiation process of cross-striated muscle cells during myogenesis. In summary, our data indicate that bi-allelic truncating variants in FILIP1 are causative of a novel autosomal recessive disorder and expand the spectrum of genetic factors causative of arthrogryposis multiplex congenita

Early Cenozoic denudation of central west Britain in response to transient and permanent uplift above a mantle plume

Upwelling mantle plumes beneath continental crust are predicted to produce difficult to quantify, modest uplift and denudation. The contribution of permanent and transient components to the uplift is also difficult to distinguish. A pulse of denudation in Britain in the Early Paleogene has been linked, although with some controversy, with the arrival of the proto-Iceland mantle plume. In this contribution we show that combining apatite and zircon (U-Th-Sm)/He and apatite fission track analyses from central west Britain with numerical modeling clearly identifies a pulse of early Cenozoic denudation. The data indicate that rock uplift and denudation were centered on the northern East Irish Sea Basin and 1.0–2.4 km of rocks were removed during the latest Cretaceous-early Paleogene. Uplift and erosion appears to have started a few million years before the earliest magmatism in the region. The regional denudation pattern mirrors the distribution of low-density magmatic rocks that has been imaged in the deep crust. However, the injection of the underplating melt is not enough to account for the total denudation. An additional regional uplift of at least 300 m is required, which is consistent with a transient thermal effect from the hot mantle plume. The rapid exhumation event ceased by ~40 Ma and the data do not require significant Neogene exhumation

Conservation status of marine biodiversity of the Western Indian Ocean

The Western Indian Ocean is comprised of productive and highly diverse marine ecosystems that are rich sources of food security, livelihoods, and natural wonder. The ecological services that species provide are vital to the productivity of these ecosystems and healthy biodiversity is essential for the continued support of economies and local users. The stability of these valuable resources, however, is being eroded by growing threats to marine life from overexploitation, habitat degradation and climate change, all of which are causing serious reductions in marine ecosystem services and the ability of these ecosystems to support human communities. Quantifying the impacts of these threats and understanding the conservation status of the region’s marine biodiversity is a critical step in applying informed management and conservation measures to mitigate loss and retain the ecological value of these systems. This report highlights trends in research needs for species in the region, including priorities for fundamental biological and ecological research and quantifying trends in the populations of species. The assessments and analyses submitted in this report should inform conservation decision-making processes and will be valuable to policymakers, natural resource managers, environmental planners and NGOs

Para que servem os inventários de fauna?

Inventários de fauna acessam diretamente a diversidade de uma localidade, em um determinado espaço e tempo. Os dados primários gerados pelos inventários compõem uma das ferramentas mais importantes na tomada de decisões a respeito do manejo de áreas naturais. Entretanto, vários problemas têm sido observados em diversos níveis relacionados aos inventários de fauna no Brasil e vão desde a formação de recursos humanos até a ausência de padronização, de desenho experimental e de seleção de métodos inadequados. São apresentados estudos de caso com mamíferos, répteis, anfíbios e peixes, nos quais são discutidos problemas como variabilidade temporal e métodos para detecção de fauna terrestre, sugerindo que tanto os inventários quanto os programas de monitoramento devam se estender por prazos maiores e que os inventários devem incluir diferentes metodologias para que os seus objetivos sejam plenamente alcançados.Inventories of fauna directly access the diversity of a locality in a certain period of time. The primary data generated by these inventories comprise one of the most important steps in decisions making regarding the management of natural areas. However, several problems have been observed at different levels related to inventories of fauna in Brazil, and range from the training of humans to the lack of standardization of experimental design and selection of inappropriate methods. We present case studies of mammals, reptiles, amphibians and fishes, where they discussed issues such temporal variability and methods for detection of terrestrial fauna, suggesting that both inventories and monitoring programs should be extended for longer terms and that inventories should include different methodologies to ensure that their goals are fully achieved

Assessing the Impact of Land Use and Land Cover Changes on Aflaj Systems over a 36-Year Period

The aflaj systems represent unique irrigation technologies that have been implemented in the Sultanate of Oman. This innovative system, referred to as “falaj” in the singular form, is composed of a sophisticated network of underground tunnels and open-air channels designed to access shallow subterranean water tables, thereby providing water for residential and agricultural use. The aflaj systems have played a significant role in supporting sustainable water resource management in arid and semiarid regions, making a notable contribution to the socioeconomic development of the country. The alteration of land use and land cover (LULC) in arid and semiarid regions can have significant consequences for hydrological systems, affecting the ability of local ecosystems to manage fresh surface and groundwater resources. These changes are often caused by both natural and anthropogenic factors. To investigate the impact of LULC changes on aflaj systems in the northern part of Oman, we utilized satellite imagery, aflaj data, and spatial analytical and image processing techniques within the framework of geographic information systems (GIS) and remote sensing. In the first part of the study, we quantified the changes in LULC and their impact on aflaj systems in seven cities in Oman due to urban expansion. In the second part, we evaluated the effect of LULC on groundwater for four major aflaj between 1985 and 2021. The study area was divided into four primary LULC classifications: vegetation, bodies of water, metropolitan areas, and bare soil. The classification maps demonstrated a high overall accuracy of 90% to 95%, indicating satisfactory performance. Our results revealed a significant reduction in vegetation areas between 1985 and 2021, primarily shifting from bare soil (BS) to urban areas (UAs) and from vegetation cover (VC) to BS, due to the reduction of groundwater resources. Over the four study periods (1985–1990, 1990–2000, 2000–2013, and 2013–2021), the percentages of the total area of Falaj Al-Muyasser, Falaj Daris, Falaj Al-Maliki, and Falaj Al-Khatmeen that transformed from agricultural lands to UAs were 40%, 39%, 32%, and 8%, respectively. Our study highlights the need for appropriate land management and planning to ensure the most effective solutions are utilized to meet social and economic sustainability requirements. In conclusion, our study presents a comprehensive analysis of LULC changes and their impact on aflaj systems over a 36-year period, providing new insights into the potential effects of LULC changes on groundwater resources and offering a basis for informed decision making on land management in arid and semiarid areas