A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Background: Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed.

Objective: To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members with variable severity.

Brazil towards malaria elimination: A time-series analysis of imported cases from 2007 to 2022.

Malaria is a global health challenge, and international efforts are underway to alleviate its impact by 2035. Within the 249 million global cases, 0.6 million occur in the Americas, mainly in Venezuela, Brazil, and Colombia.

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/variable expressivity have been described. The genetic etiology of MBS is still unclear: de novo pathogenic variants in and are reported in only a minority of cases, suggesting the involvement of additional causative genes.

Experimental warming promotes phytoplankton species sorting towards cyanobacterial blooms and leads to potential changes in ecosystem functioning.

A positive feedback loop where climate warming enhances eutrophication and its manifestations (e.g., cyanobacterial blooms) has been recently highlighted, but its consequences for biodiversity and ecosystem functioning are not fully understood.

Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.

We describe the case of a young woman affected by debilitating chorea and rapidly progressive cognitive decline. While her original diagnosis was multiple sclerosis, we performed a full instrumental and genetic assessement, though which we identified multiple genetic variants, including a novel variant of the APP gene. We propose some possible mechanisms by which such variants may contribute to neuroinflammation and ultimately lead to this devastating clinical course.

Feasibility of endoscopic papillary large balloon dilation to remove difficult stones in patients with nondilated distal bile ducts.

Background: Current guidelines recommend not performing papillary large balloon dilation in patients with nondilated distal bile ducts.

Aim: To assess the feasibility of balloon dilation to remove difficult stones in patients with nondilated distal bile ducts.

Methods: Data from 1289 endoscopic retrograde cholangiopancreatography (ERCP) procedures were obtained from two prospective studies.

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

Background: De novo pathogenic variants in the DDX3X gene are reported to account for 1-3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs.

Case Presentation: We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG).

Triatominae (Hemiptera, Reduviidae) in homes: Report of their occurrence in the municipality of Cruzeiro do Sul, Acre, South Western Amazon.

Introduction: Triatomines are hematophagous insects that are important to public health since they are the vectors of American Trypanosomiasis. The objective of this study was to describe the occurrence of triatomines in homes in Cruzeiro do Sul, Acre, Brazil.

Methods: The specimens were collected by an active search inside homes and also by a passive search by the residents.

Trypanosoma cruzi vectors in a periurban area of the Western Brazilian Amazon.

The etiological agent of American trypanosomiasis is the protozoan Trypanosoma cruzi , typically transmitted by triatomines. The aim of this study was to investigate the triatomine fauna and trypanosomiasis infections in Acre State , Western Brazilian Amazon. Insect collection was performed by dissecting palm trees and installing traps.

Differently dispersing organism groups show contrasting beta diversity patterns in a dammed subtropical river basin.

Although it is widely known that dams can have large impacts on the environmental and biological characteristics of downstream rivers, there is a substantial lack of studies focusing on which ecological processes cause longitudinal changes in biological communities downstream of reservoirs. We investigated longitudinal patterns in the total beta diversity and its replacement and richness difference components for actively (fish) and passively (phytoplankton) dispersing biological groups. Our results, obtained from a 230 km sampling stretch, demonstrated the key role played by tributaries in the downstream direction from main river impoundment, which influenced local environmental conditions and beta diversity patterns of each biological group.

Vector competence, vectorial capacity of Nyssorhynchus darlingi and the basic reproduction number of Plasmodium vivax in agricultural settlements in the Amazonian Region of Brazil.

Background: Brazilian malaria control programmes successfully reduced the incidence and mortality rates from 2005 to 2016. Since 2017, increased malaria has been reported across the Amazon. Few field studies focus on the primary malaria vector in high to moderate endemic areas, Nyssorhynchus darlingi, as the key entomological component of malaria risk, and on the metrics of Plasmodium vivax propagation in Amazonian rural communities.

Current vector control challenges in the fight against malaria in Brazil.

In Brazil, malaria is an important public health problem first reported in 1560. Historically, fluctuations in malaria cases in Brazil are attributed to waves of economic development; construction of railroads, highways, and hydroelectric dams; and population displacement and land occupation policies. Vector control measures have been widely used with an important role in reducing malaria cases.

Correction to: Socioeconomic and demographic characterization of an endemic malaria region in Brazil by multiple correspondence analysis.

After publication of the article [1], it has been brought to our attention that the y-axis of Fig. 6 has been labeled incorrectly. It should read "linear predictor".

Socioeconomic and demographic characterization of an endemic malaria region in Brazil by multiple correspondence analysis.

Background: In the process of geographical retraction of malaria, some important endemicity pockets remain. Here, we report results from a study developed to obtain detailed community data from an important malaria hotspot in Latin America (Alto Juruá, Acre, Brazil), to investigate the association of malaria with socioeconomic, demographic and living conditions.

Methods: A household survey was conducted in 40 localities (n = 520) of Mâncio Lima and Rodrigues Alves municipalities, Acre state.

Brazilian mosquito (Diptera: Culicidae) fauna: I. Anopheles species from Porto Velho, Rondônia state, western Amazon, Brazil.

This study contributes to knowledge of Anopheles species, including vectors of Plasmodium from the western Brazilian Amazon in Porto Velho, Rondônia State. The sampling area has undergone substantial environmental changes as a consequence of agricultural and hydroelectric projects, which have caused intensive deforestation and favored habitats for some mosquito species. The purpose of this study was to diagnose the occurrence of anopheline species from collections in three locations along an electric-power transmission line.

[Acute renal failure in patient treated with ATRA and amphotericin B: case report].

This is a report of the case of a patient with acute promyelocytic leukemia treated with all trans-retinoic acid (ATRA), who had suspected all-trans retinoic acid syndrome (ATRA syndrome). The nonspecific febrile leukopenia observed justified the association with antimicrobial and antifungal therapy. Signs and symptoms contributed to the suspicion of ATRA syndrome, and renal function was impaired by the combination with antifungal agents.

Phototoxic effects of fluoranthene, a polycyclic aromatic hydrocarbon, on bacterial species.

Fluoranthene, a non-carcinogenic polycyclic aromatic hydrocarbon, inactivates Escherichia coli cells in the presence of near-ultraviolet light (NUV; 300-400 nm). E coli cells carrying defects in the uvrA6 or katF genes are sensitized to inactivation by the simultaneous treatment with fluoranthene and NUV, suggesting that DNA is a target and that hydrogen peroxide is generated. Haemophilus influenzae transforming DNA can be inactivated by the simultaneous treatment with fluoranthene and NUV confirming DNA as a target.