Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.

Mutations in CLCN2 are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional CLCN2 patients and expand the known phenotypic spectrum of this disorder. Informed consent was obtained for all patients. Patients underwent either whole-exome sequencing or focused/panel-based sequencing to identify variants. Twelve patients with biallelic CLCN2 variants are described. This includes three novel likely pathogenic missense variants. All patients demonstrated typical MRI changes, including hyperintensity on T2-weighted images in the posterior limbs of the internal capsules, midbrain cerebral peduncles, middle cerebellar peduncles and cerebral white matter. Clinical features included a variable combination of ataxia, headache, spasticity, seizures and other symptoms with a broad range of age of onset. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy and reinforces the finding that, although the imaging appearance is uniform, the phenotypic expression of this disorder is highly heterogeneous. Our findings expand the phenotypic spectrum of CLCN2-related leucoencephalopathy by adding prominent seizures, severe spastic paraplegia and developmental delay.

Surface and groundwater relationship in an anthropically modified area.

This study assessed the relationship between the recharge of the unconfined sedimentary Adamantina Aquifer and its discharge into the Batalha River in a small basin of 125 km2 that drains the municipalities of Bauru, Agudos and Piratininga (SP, Brazil). According to the Eckhardt Flow Separation Filters and Soil Moisture Accounting Procedure methods, the recharge was 312.6 mm/yr and 232.0 mm/yr, respectively; and 286.2 mm/yr to the modified-Thornthwaite method for the 2000-2018 period. Recharge values prone to converge as more extended periods are analyzed (ideally 18 years) because the sensitivities to a specific parameter tend to be mitigated over time. With the integration of the methods, we established how changes in land-use impact the aquifer recharge and, thus, the discharges and the behavior of the river's recession curve. Areas used to cultivate sugar cane (193 mm/yr), eucalyptus (150 mm/yr), or to urbanization (72 mm/yr) exert control over aquifer recharge even more than topography or type of soil. The combined and integrated use of three simple techniques allows them to be used for land-use planning and assessment of water availability in small hydrographic basins when hydrological data are scarce.

Leishmania presence in bats in areas endemic for leishmaniasis in central-west Brazil.

Leishmaniasis involves the participation of several species of both wild and domestic mammal hosts and sandfly vectors, which demonstrates the eco-epidemiological complexity observed in this disease. Bats are among the most abundant types of mammals and the scarcity of research on Leishmania infection in these animals gives evidence of the importance of new studies that aim to clarify this relationship. This study aimed to detect the Leishmania spp. in bats. 146 bats, representing 16 different species belonging to the Molossidae, Vespertilionidae, and Phyllostomidae families, were received and processed for collection of tissues. Skin samples were collected from 100% of the bats, and liver samples were collected from 87% (n = 127). After evaluating the quality of the DNA extracted by means of PCR directed to the IRBP gene, the samples considered suitable for the Leishmania detection test were submitted for PCR directed to Leishmania kDNA, and to confirm positivity, were tested to the SSUrRNA gene-directed Nested-PCR. The Leishmania presence in the species Molossus pretiosus, Nyctinomops macrotis, and Lasiurus cinereus are the first reports this encounter in these species of bats in Brazil. Furthermore, new species of bats as possible hosts for L. infantum are reported, such as Molossus pretiosus, Myotis nigricans, Nyctinomops laticaudatus, Nyctinomops macrotis, and, for L. braziliensis, Lasiurus cinereus and Cynomops planirostris. These findings in bats in an area endemic for leishmaniasis indicate that these animals may be involved in sustaining the disease cycle in this location.