Camera trap surveys of Atlantic Forest mammals: A data set for analyses considering imperfect detection (2004-2020).

Camera traps became the main observational method of a myriad of species over large areas. Data sets from camera traps can be used to describe the patterns and monitor the occupancy, abundance, and richness of wildlife, essential information for conservation in times of rapid climate and land-cover changes. Habitat loss and poaching are responsible for historical population losses of mammals in the Atlantic Forest biodiversity hotspot, especially for medium to large-sized species. Here we present a data set from camera trap surveys of medium to large-sized native mammals (>1 kg) across the Atlantic Forest. We compiled data from 5380 ground-level camera trap deployments in 3046 locations, from 2004 to 2020, resulting in 43,068 records of 58 species. These data add to existing data sets of mammals in the Atlantic Forest by including dates of camera operation needed for analyses dealing with imperfect detection. We also included, when available, information on important predictors of detection, namely the camera brand and model, use of bait, and obstruction of camera viewshed that can be measured from example pictures at each camera location. Besides its application in studies on the patterns and mechanisms behind occupancy, relative abundance, richness, and detection, the data set presented here can be used to study species' daily activity patterns, activity levels, and spatiotemporal interactions between species. Moreover, data can be used combined with other data sources in the multiple and expanding uses of integrated population modeling. An R script is available to view summaries of the data set. We expect that this data set will be used to advance the knowledge of mammal assemblages and to inform evidence-based solutions for the conservation of the Atlantic Forest. The data are not copyright restricted; please cite this paper when using the data.

As armadilhas fotográficas tornaram­se o principal método de observação de muitas espécies em grandes áreas. Os dados obtidos com armadilhas fotográficas podem ser usados para descrever os padrões e monitorar a ocupação, abundância e riqueza da vida selvagem, informação essencial para a conservação em tempos de rápidas mudanças climáticas e de cobertura do solo. A perda de habitat e a caça furtiva são responsáveis pelas perdas populacionais históricas de mamíferos no hotspot de biodiversidade da Mata Atlântica, especialmente para espécies de médio e grande porte. Aqui apresentamos um conjunto de dados de levantamentos com armadilhas fotográficas de mamíferos de médio e grande porte (>1 kg) em toda a Mata Atlântica. Compilamos dados de 5.380 armadilhas fotográficas instaladas no nível do chão em 3.046 locais, de 2004 a 2020, resultando em 43.068 registros de 58 espécies. Esses dados acrescentam aos conjuntos de dados existentes de mamíferos na Mata Atlântica por incluir as datas de operação das câmeras, que são necessárias para análises que lidam com detecção imperfeita. Também incluímos, quando disponíveis, informações sobre importantes preditores de detecção, como marca e modelo da câmera, uso de isca e obstrução do visor da câmera que pode ser medido a partir de imagens de exemplo em cada local da câmera. Além de estudos sobre os padrões e mecanismos por trás da ocupação, abundância relativa, riqueza e detecção, o conjunto de dados aqui apresentado pode ser usado para estudar os padrões de atividade diária das espécies, nível de atividade e interações espaço­temporais entre as espécies. Além disso, os dados podem ser usados em combinação com outras fontes de dados em diversas análises com modelagem populacional integrada. Um script R está disponível para visualizar um resumo do conjunto de dados. Esperamos que este conjunto de dados seja usado para aumentar o conhecimento sobre as assembleias de mamíferos e usado para informar soluções baseadas em evidências para a conservação da Mata Atlântica. Os dados não são restritos por direitos autorais e, por favor, cite este documento ao usar os dados.

MRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome.

Sturge-Weber syndrome (SWS), a neurocutaneous disorder, is characterized by capillary malformations (CM) in the skin, brain, and eyes. Patients may suffer from seizures, strokes, and glaucoma, and only symptomatic treatment is available. CM are comprised of enlarged vessels with endothelial cells (ECs) and disorganized mural cells. Our recent finding indicated that the R183Q mutation in ECs leads to heightened signaling through phospholipase Cß3 and protein kinase C, leading to increased angiopoietin-2 (ANGPT2). Furthermore, knockdown of ANGPT2, a crucial mediator of pro-angiogenic signaling, inflammation, and vascular remodeling, in EC-R183Q rescued the enlarged vessel phenotype in vivo. This prompted us to look closer at the microenvironment in CM-affected vascular beds. We analyzed multiple brain histological sections from patients with GNAQ-R183Q CM and found enlarged vessels devoid of mural cells along with increased macrophage-like cells co-expressing MRC1 (CD206, a mannose receptor), CD163 (a scavenger receptor and marker of the monocyte/macrophage lineage), CD68 (a pan macrophage marker), and LYVE1 (a lymphatic marker expressed by some macrophages). These macrophages were not found in non-SWS control brain sections. To investigate the mechanism of increased macrophages in the perivascular environment, we examined THP1 (monocytic/macrophage cell line) cell adhesion to EC-R183Q versus EC-WT under static and laminar flow conditions. First, we observed increased THP1 cell adhesion to EC-R183Q compared to EC-WT under static conditions. Next, using live cell imaging, we found THP1 cell adhesion to EC-R183Q was dramatically increased under laminar flow conditions and could be inhibited by anti-ICAM1. ICAM1, an endothelial cell adhesion molecule required for leukocyte adhesion, was strongly expressed in the endothelium in SWS brain histological sections, suggesting a mechanism for recruitment of macrophages. In conclusion, our findings demonstrate that macrophages are an important component of the perivascular environment in CM suggesting they may contribute to the CM formation and SWS disease progression.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next-generation sequencing (NGS) now enables unbiased diagnostics. Through the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we gathered data from patients with heterozygous FOXG1 variants presenting a mild phenotype, defined as able to speak and walk independently. We also reviewed data from three previously reported patients meeting our criteria. We identified five new patients with pathogenic FOXG1 missense variants, primarily in the forkhead domain, showing varying nonspecific intellectual disability and developmental delay. These features are not typical of congenital Rett syndrome and were rarely associated with microcephaly and epilepsy. Our findings are consistent with a previous genotype-phenotype analysis by Mitter et al. suggesting the delineation of five different FOXG1 genotype groups. Milder phenotypes were associated with missense variants in the forkhead domain. This information may facilitate prognostic assessments in children carrying a FOXG1 variant and improve the interpretation of new variants identified with genomic sequencing.

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.

We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in PIK3CA background, she developed a squamous cell carcinoma in the right affected leg which was treated surgically. Nine years later, lung bilateral adenocarcinoma arose on PIK3CA mutated tissues supported by different clonal mutations. One year later, the patient died from metastases led by a new FGFR3 clone unresponsive to standard-of-care, immunotherapy-based. Our results highlight the presence of a molecular hallmark underlying neoplastic transformation that occurs upon an angiodysplastic process and support the view that PIK3CA mutated tissues must be treated as precancerous lesions. Importantly, they remark the effectiveness of combining cfDNA NGS liquid and tissue biopsies to monitor disease evolution as well as to identify aggressive clones targetable by tailored therapy, which is more efficient than conventional protocols.

Menstrual cycle alterations in reproductive age women after anti COVID-19 vaccination. A survey in 419 Italian women and quality of life and sexual function evaluation.

BACKGROUND: Pharmacovigilance agencies did not collect data regarding menstrual changes after COVID-19 vaccination even if many women experienced it. Our aim was to evaluate whether COVID-19 vaccination is associated with secondary changes in menstrual cycle and to assess both quality of life (QoL) and sexual function (SF). METHODS: This study is a retrospective analysis referred to our Department from January 2021 to December 2021. The study cohort responded to same questionnaires before the second dose of vaccination (referring to previous 3 months) and 3 months after that (referring to three menstrual cycles after full-dose vaccination). The surveys administered were FSFI, FSDS, SF-36, MEDI-Q and the VAS-scale for dysmenorrhea. RESULTS: Four-hundred-nineteen vaccinated women were included in the study. The survey did not show a significant change in menstrual cycle length before and after COVID-19 vaccine (5.88±3.67 vs. 4.97±2.89, P=0.21); the interval between periods was significantly higher after a full-cycle vaccination (28.32±7.34 vs. 32.38±7.45, P<0.02); 32 patients (7.6%) developed amenorrhea after the second dose; VAS Scale did not change significantly (median range 3 (3-5) vs. 4 (3-6), P=0.20). MEDI-Q did not show significant variations before and after the vaccination (43.21±11.65 vs. 40.28±9.88, P=0.35). QoL and SF did not change significantly (FSFI median 27 [24-29] vs. 28 [25-30], P=0.12, FSDS median 9 [5-11] vs. 8 [4-12], P=0.22), SF-36 median 81 [70-85] vs. 82 [72-86], P=0.43). CONCLUSIONS: COVID-19 vaccination is associated with a significant change in intervals between menstrual cycles without other alterations in menstrual characteristics, in QoL or SF.

Development of a Training Strategy Aimed at Increasing Veterinarians' Awareness of the Proper Use of Antibiotics on Rabbit Farms.

The rabbit sector faces significant challenges with antimicrobial usage (AMU) and antimicrobial resistance (AMR). A focus group involving nine rabbit sector stakeholders identified key issues contributing to high AMU and the need for veterinarians' training. Participants emphasized the lack of clear legislation, biosecurity standards, and the importance of training on best practices to reduce AMU. To address these concerns, a blended learning course for rabbit veterinarians was organized, focusing on responsible drug use to lower AMU. The course design promoted participant interaction using group exercises and online discussions. The output was an operational tool, encompassing crucial elements to reduce drug dependence, covering housing, environmental conditions, feed, reproduction, disease prevention, diagnosis, and treatments. Validated in veterinarians' daily practices, the tool proved valuable. The tool, presented as a checklist, assists veterinarians in supporting field activities regarding proper drug use and AMR issues. It also helps farmers address knowledge gaps in breeding management and adopt biosecurity practices for disease prevention. Participants were encouraged to use the tool during farm visits and collaborate with farmers. The project presented in the manuscript is a crucial step towards the development of effective strategies for responsible AMU and AMR mitigation in the rabbit sector and beyond.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

PURPOSE: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort. METHODS: Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF-subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays. RESULTS: Neurodevelopmental delay with intellectual disability, muscular hypotonia, and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare. Clinical presentation differed significantly, with LGD variants being predominantly inherited and associated with mildly reduced or normal cognitive development, whereas non-truncating variants were mostly de novo and presented with severe developmental delay. These distinct manifestations and non-truncating variant clustering in functional domains suggest different pathomechanisms. In vitro testing showed decreased protein expression for N-terminal missense variants similar to LGD. CONCLUSION: This study improved SMARCC2 variant classification and identified discernible SMARCC2-associated phenotypes for LGD and non-truncating variants, which were distinct from other BAFopathies. The pathomechanism of most non-truncating variants has yet to be investigated.

Focal drug-resistant temporal lobe epilepsy associated with an ipsilateral anterior choroidal artery aneurysm: illustrative case.

BACKGROUND: The occurrence of both an intracranial aneurysm and epilepsy, especially drug-resistant epilepsy (DRE), is rare. Although the overall incidence of aneurysms associated with DRE is unclear, it is thought to be particularly infrequent in the pediatric population. Surgical ligation of the offending aneurysm has been reported in conjunction with resolving seizure activity, although few cases have cited a combined approach of aneurysm ligation and resection of an epileptogenic focus. OBSERVATIONS: We present the case of a 14-year-old female patient with drug-resistant temporal lobe epilepsy and an ipsilateral supraclinoid internal carotid artery aneurysm. Seizure semiology, electroencephalography monitoring, and magnetic resonance imaging all indicated a left temporal epileptogenic focus, in addition to an incidental aneurysm. The authors recommended a combined surgery involving resection of the temporal lesion and surgical clip ligation of the aneurysm. Near-total resection and successful ligation were achieved, and the patient has remained seizure free since surgery at 1 year postoperatively. LESSONS: In patients with focal DRE and an adjacent intracranial aneurysm, a combined surgical approach involving both resection and surgical ligation can be used. Several surgical timing and neuroanesthetic considerations should be made to ensure the overall safety and efficacy of this procedure.

Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.

Paroxysmal exercise-induced movement disorders may be caused by energy metabolism disorders, such as Glut 1 deficiency, pyruvate dehydrogenase deficiency, or mitochondrial respiratory chain disorders. A 4-year-old boy with a history of febrile seizures presented with paroxysmal dystonia, triggered by exercise, or occurring at rest. Additional investigations demonstrated pallidal hyperintensities on brain MRI and low CSF glucose. Pyruvate and lactate were elevated. The clinical presentation combined with neuroimaging abnormalities and biochemical profile (the lactate/pyruvate ratio) were clues to pyruvate dehydrogenase deficiency, a treatable metabolic disorder with neurologic presentations.

Sexual function analysis and clitoral vascularization in postmenopausal women with genitourinary syndrome treated with ospemifene.

BACKGROUND: The aim of this study was to evaluate the efficacy of ospemifene in the Vaginal Health Index (VHI), in the vulvovaginal vascular perfusion, and to assess its impact on quality of life and sexual function. METHODS: Among 52 eligible patients, 43 consecutive postmenopausal patients affected by vulvo-vaginal atrophy (VVA), or genitourinary syndrome (GSM) were evaluated. VVA evaluation and ultrasound of the vulvo-vaginal vascularization by sampling the Pulsatility Index (PI) of clitoris dorsal artery were performed before and after 3 months-treatment with ospemifene. The 36-Item Short Form Survey (SF-36) for the quality-of-life assessment before and after 3 months were available for all women; instead, Female Sexual Function Index (FSFI) and the Female Sexual Distress Scale (FSDS) questionnaires for the sexual function evaluation were performed for sexually active women in the study. The Patient Impression of Global Improvement (PGI-I) after 3 months of treatment was also calculated. RESULTS: The number of sexually active women significantly increased after 3 months (26 [60.46%] vs. 35 [81.39%]; P=0.01). The mean number of intercourses during the treatment increased (12.87±3.43 vs. 15.79±3.12, P=0.03). The PI of clitoris dorsal artery has significantly changed before and after treatment respectively (PI [1.69±0.42 vs. 1.28±0.45, P=0.001] RI [0.74±0.11 vs. 0.54±0.15, P=0.001]). The FSFI, FSDS and SF-36 Questionnaires scores showed a significant improvement after 3 months. VHI and PI were the independent factors of a lower FSFI after 3 months of treatment at multivariate analysis. CONCLUSIONS: Ospemifene improve the VHI and vulvovaginal vascular perfusion demonstrating a positive impact on sexual function and quality of life.

Small mammals from the Caatinga: A dataset for the Brazilian semiarid biome.

The Caatinga is an exclusively Brazilian biome, and is the largest and most biodiverse Seasonal Tropical Dry Forest in the world. Despite that, the mammalian fauna, especially small mammals, is the least studied of all Brazilian biomes. In order to fill gaps and provide detailed information on small mammals (Didelphimorphia, Rodentia) in the Caatinga biome, we compiled reliable records focusing on richness, composition and some biometric data. These records came from mammal collections, papers, theses, books, and unpublished data, prioritizing records with vouchers housed in scientific collections. We compiled a total of 3133 records from 816 locations, resulting in a richness of 47 native species (12 marsupials and 35 rodents, plus three exotic rodents, Rattus rattus, Rattus norvegicus, and Mus musculus). This dataset includes records of three new species for the biome and its transition zone: the rodents Calomys mattevii, Holochilus oxe, and Nectomys squamipes. Of the total number of records, 1808 (57.71%) are from consulting activities, 95 (3.03%) are from zoonoses studies and 104 (3.32%) are from the National Plague Service (SNP). All nine Brazilian states with territory in the Caatinga have sampling data for small mammals, but the number of records and localities are unevenly distributed, with the state of Rio Grande do Norte having the lowest number of records and locations sampled. Our dataset is the first of its kind for the Caatinga biome and has considerable potential value for studies of habitat use, landscape ecology, macroecology, biogeography, and conservation. There are no copyright restrictions on the data. Please cite this data paper when the data are used in publications. We also request that researchers and teachers inform us of how they are using the data.

Some Considerations about Winter Colony Losses in Italy According to the Coloss Questionnaire.

The Italian beekeeping industry has grown steadily during the last decade, according to data from the national beekeeping registry, which came into existence in February 2015. Winter colony losses remain a matter of concern for beekeepers in Italy, and administration of the questionnaire defined by the Coloss Association could contribute to a better understanding of this phenomenon. To evaluate the percentage trends over time in honeybee colony losses arising from various causes, we used the quasi-binomial generalized linear modelling (GzLM) approach, taking the year as an independent variable. We set our level of significance at 5% and performed the data analysis only for the seven regions that sent data continuously from 2014 to 2020. We considered the percentage of losses due to queen-related problems, natural disasters, and dead or empty colonies, given that these questions remained unchanged over the years. The survey also revealed that the percentage trend for respondents using drone brood removal showed a significant increase. In general, the percentage of colony losses due to queen-related problems remained lower than 8%, and the percentage of colony losses associated with natural disasters was very low (<2%). The mean percentages of losses due to dead or empty colonies ranged from 6 to 17% in the considered period. In addition, we took account of the responses relating to treatments against Varroa mite infestation, given the importance attributed to this honeybee parasite. Unlike the other variables, we calculated the percentages related to the types of beekeeper treatments against Varroa destructor based on the respondents, not on the colonies. What emerged was that almost every beekeeper used at least one type of treatment against V. destructor. In general, the trend of respondents appeared stable at 0.3% during the last four years.

SPTBN5, Encoding the ßV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2, and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5-associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5.