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3.
Sci Rep ; 14(1): 18227, 2024 08 06.
Artículo en Inglés | MEDLINE | ID: mdl-39107395

RESUMEN

Identification of Aedes aegypti breeding hotspots is essential for the implementation of targeted vector control strategies and thus the prevention of several mosquito-borne diseases worldwide. Training computer vision models on satellite and street view imagery in the municipality of Rio de Janeiro, we analyzed the correlation between the density of common breeding grounds and Aedes aegypti infestation measured by ovitraps on a monthly basis between 2019 and 2022. Our findings emphasized the significance (p ≤ 0.05) of micro-habitat proxies generated through object detection, allowing to explain high spatial variance in urban abundance of Aedes aegypti immatures. Water tanks, non-mounted car tires, plastic bags, potted plants, and storm drains positively correlated with Aedes aegypti egg and larva counts considering a 1000 m mosquito flight range buffer around 2700 ovitrap locations, while dumpsters, small trash bins, and large trash bins exhibited a negative association. This complementary application of satellite and street view imagery opens the pathway for high-resolution interpolation of entomological surveillance data and has the potential to optimize vector control strategies. Consequently it supports the mitigation of emerging infectious diseases transmitted by Aedes aegypti, such as dengue, chikungunya, and Zika, which cause thousands of deaths each year.


Asunto(s)
Aedes , Mosquitos Vectores , Animales , Aedes/fisiología , Mosquitos Vectores/fisiología , Brasil , Imágenes Satelitales/métodos , Ciudades , Control de Mosquitos/métodos , Cruzamiento , Ecosistema , Larva/fisiología
4.
Front Pediatr ; 12: 1334610, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39156017

RESUMEN

Introduction: Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved. Objective: To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases. Methods: This study included subjects with EPP and PSIS diagnosed by a simple MRI protocol (FAST1.2). We performed two distinct analyses in the trio-based WES. We looked for previously described genes associated with pituitary development. Next, we investigated the whole exome for variants inherited in a pattern consistent with a monogenic etiology. Results: Ten families were evaluated; eight were composed of a child with EPP and healthy parents, one has two affected siblings, and one family has a son and mother with EPP. When analyzing the previously described candidate variants associated with pituitary development, we found variants in GLI2 and FGFR1 in three families. We also found six other variants of interest in three patients: KMT2A, GALR3, RTN4R, SEMA3A, NIPBL, and DSCAML1. Conclusion: The analysis allowed us to find previously reported and not reported GLI2 variants, all inherited from healthy parents, which reinforces the incomplete penetrance pattern of GLI2 variants in the development of EPP and draws attention to possible future functional studies of those variants that have a recurrent expression in CH. We also found novel FGFR1 and SEMA3A variants that suggest an oligogenic mechanism in PSIS and EPP, as seen in patients with hypogonadotropic hypogonadism. We report the first case of a patient with Wiedemann-Steiner syndrome and PSIS, suggesting that the KMT2A gene may be related to pituitary development. Furthermore, the trios' analysis allowed us to find five other variants of interest. Future investigations may clarify the roles of these variants in the etiology of EPP and PSIS.

5.
Andrology ; 2024 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-39044679

RESUMEN

BACKGROUND: Sperm-borne microRNAs play a pivotal role in influencing essential cellular processes during fertilization, impacting the quality of embryo development. Dysregulated microRNA profiles have been associated with compromised embryonic development and increased incidences of pregnancy loss. OBJECTIVE: This study aimed to investigate the potential associations between the abundance of miR-34c-5p and miR-191-3p in human spermatozoa with sperm quality, as well as with embryo quality and metabolic performance during in vitro development. MATERIALS AND METHODS: Thirteen couples who underwent a total of 13 cycles participated in this study. The sperm quality was assessed using conventional methods following World Health Organization guidelines. Quantitative polymerase chain reaction was employed to measure microRNA abundance in spermatozoa. Embryos were categorized as good, lagging, or bad based on morphokinetic evaluation. Evaluation of embryo metabolic performance involved tracking changes in specific metabolites within the cultured media using nuclear magnetic resonance spectroscopy. Statistical analysis was conducted to explore the correlation between microRNA abundance in human spermatozoa and all other collected data. RESULTS: Our findings revealed a negative correlation between the abundance of miR-34c-5p (but not miR-191-3p) and total sperm motility, potentially mediated by the modulation of key signaling pathways. Additionally, higher levels of miR-34c-5p in spermatozoa were strongly associated with the consumption or release of key metabolites by developing embryos, particularly those linked with lipid and glucose metabolism, suggesting enhanced metabolic performance, while miR-191-3p was mostly associated with glucose consumption. Concurrently, only miR-34c-5p content in spermatozoa correlated with higher embryo quality. DISCUSSION AND CONCLUSION: This study provides evidence suggesting that the abundance of miR-34c-5p in spermatozoa is correlated not only with total sperm motility but also with markers of embryo developmental competence, highlighting the potential significance of this sperm microRNA content as a biomarker in assisted reproduction.

7.
Arq Neuropsiquiatr ; 82(6): 1-12, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38565188

RESUMEN

Radiology has a number of characteristics that make it an especially suitable medical discipline for early artificial intelligence (AI) adoption. These include having a well-established digital workflow, standardized protocols for image storage, and numerous well-defined interpretive activities. The more than 200 commercial radiologic AI-based products recently approved by the Food and Drug Administration (FDA) to assist radiologists in a number of narrow image-analysis tasks such as image enhancement, workflow triage, and quantification, corroborate this observation. However, in order to leverage AI to boost efficacy and efficiency, and to overcome substantial obstacles to widespread successful clinical use of these products, radiologists should become familiarized with the emerging applications in their particular areas of expertise. In light of this, in this article we survey the existing literature on the application of AI-based techniques in neuroradiology, focusing on conditions such as vascular diseases, epilepsy, and demyelinating and neurodegenerative conditions. We also introduce some of the algorithms behind the applications, briefly discuss a few of the challenges of generalization in the use of AI models in neuroradiology, and skate over the most relevant commercially available solutions adopted in clinical practice. If well designed, AI algorithms have the potential to radically improve radiology, strengthening image analysis, enhancing the value of quantitative imaging techniques, and mitigating diagnostic errors.


A radiologia tem uma série de características que a torna uma disciplina médica especialmente adequada à adoção precoce da inteligência artificial (IA), incluindo um fluxo de trabalho digital bem estabelecido, protocolos padronizados para armazenamento de imagens e inúmeras atividades interpretativas bem definidas. Tal adequação é corroborada pelos mais de 200 produtos radiológicos comerciais baseados em IA recentemente aprovados pelo Food and Drug Administration (FDA) para auxiliar os radiologistas em uma série de tarefas restritas de análise de imagens, como quantificação, triagem de fluxo de trabalho e aprimoramento da qualidade das imagens. Entretanto, para o aumento da eficácia e eficiência da IA, além de uma utilização clínica bem-sucedida dos produtos que utilizam essa tecnologia, os radiologistas devem estar atualizados com as aplicações em suas áreas específicas de atuação. Assim, neste artigo, pesquisamos na literatura existente aplicações baseadas em IA em neurorradiologia, mais especificamente em condições como doenças vasculares, epilepsia, condições desmielinizantes e neurodegenerativas. Também abordamos os principais algoritmos por trás de tais aplicações, discutimos alguns dos desafios na generalização no uso desses modelos e introduzimos as soluções comercialmente disponíveis mais relevantes adotadas na prática clínica. Se cautelosamente desenvolvidos, os algoritmos de IA têm o potencial de melhorar radicalmente a radiologia, aperfeiçoando a análise de imagens, aumentando o valor das técnicas de imagem quantitativas e mitigando erros de diagnóstico.


Asunto(s)
Inteligencia Artificial , Radiología , Humanos , Algoritmos , Radiología/métodos
8.
Vet Res Commun ; 48(3): 1409-1421, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38305959

RESUMEN

The microbiome plays a significant role in shaping the health and functioning of the systems it inhabits. The seminal microbiome of stallions has implications for the health of the reproductive tract, sperm quality during preservation and antibiotic use in semen extenders. Diverse bacteria are present on the external genital tract and a mix of commensal microorganisms populates various parts of the reproductive tract, influencing the seminal bacterial content. Other sources of bacteria include the environment, semen collection equipment, and personnel. The bacterial load can adversely affect sperm quality and fertility, particularly in artificial insemination, where semen is extended and stored before use. Antibiotics are frequently used to inhibit bacterial growth, but their effectiveness varies depending on the bacterial strains present. The aim of this study was to assess the bacterial diversity in semen from 37 healthy stallions across three European nations (Germany, Portugal, and Sweden) using 16S sequencing. Semen samples were collected from individual stallions at three AI centers; DNA extraction, sequencing, and bioinformatic analysis were performed. Differences in bacterial diversity among the stallions were seen; although bacterial phyla were shared across the regions, differences were observed at the genus level. Climate, husbandry practices, and individual variability likely contribute to these differences. These findings underscore the importance of tailoring antibiotic strategies for semen preservation based on regional bacterial profiles. The study presents a comprehensive approach to understanding the intricacies of the stallion seminal microbiome and its potential implications for reproductive technologies and animal health.


Asunto(s)
Bacterias , ARN Ribosómico 16S , Semen , Animales , Masculino , Caballos/microbiología , Semen/microbiología , Bacterias/aislamiento & purificación , Bacterias/clasificación , Bacterias/genética , ARN Ribosómico 16S/genética , Microbiota , Suecia , Portugal , Alemania
11.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;82(6): s00441779486, 2024. graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1564005

RESUMEN

Abstract Radiology has a number of characteristics that make it an especially suitable medical discipline for early artificial intelligence (AI) adoption. These include having a well-established digital workflow, standardized protocols for image storage, and numerous well-defined interpretive activities. The more than 200 commercial radiologic AI-based products recently approved by the Food and Drug Administration (FDA) to assist radiologists in a number of narrow image-analysis tasks such as image enhancement, workflow triage, and quantification, corroborate this observation. However, in order to leverage AI to boost efficacy and efficiency, and to overcome substantial obstacles to widespread successful clinical use of these products, radiologists should become familiarized with the emerging applications in their particular areas of expertise. In light of this, in this article we survey the existing literature on the application of AI-based techniques in neuroradiology, focusing on conditions such as vascular diseases, epilepsy, and demyelinating and neurodegenerative conditions. We also introduce some of the algorithms behind the applications, briefly discuss a few of the challenges of generalization in the use of AI models in neuroradiology, and skate over the most relevant commercially available solutions adopted in clinical practice. If well designed, AI algorithms have the potential to radically improve radiology, strengthening image analysis, enhancing the value of quantitative imaging techniques, and mitigating diagnostic errors.


Resumo A radiologia tem uma série de características que a torna uma disciplina médica especialmente adequada à adoção precoce da inteligência artificial (IA), incluindo um fluxo de trabalho digital bem estabelecido, protocolos padronizados para armazenamento de imagens e inúmeras atividades interpretativas bem definidas. Tal adequação é corroborada pelos mais de 200 produtos radiológicos comerciais baseados em IA recentemente aprovados pelo Food and Drug Administration (FDA) para auxiliar os radiologistas em uma série de tarefas restritas de análise de imagens, como quantificação, triagem de fluxo de trabalho e aprimoramento da qualidade das imagens. Entretanto, para o aumento da eficácia e eficiência da IA, além de uma utilização clínica bem-sucedida dos produtos que utilizam essa tecnologia, os radiologistas devem estar atualizados com as aplicações em suas áreas específicas de atuação. Assim, neste artigo, pesquisamos na literatura existente aplicações baseadas em IA em neurorradiologia, mais especificamente em condições como doenças vasculares, epilepsia, condições desmielinizantes e neurodegenerativas. Também abordamos os principais algoritmos por trás de tais aplicações, discutimos alguns dos desafios na generalização no uso desses modelos e introduzimos as soluções comercialmente disponíveis mais relevantes adotadas na prática clínica. Se cautelosamente desenvolvidos, os algoritmos de IA têm o potencial de melhorar radicalmente a radiologia, aperfeiçoando a análise de imagens, aumentando o valor das técnicas de imagem quantitativas e mitigando erros de diagnóstico.

12.
Front Cardiovasc Med ; 10: 1309900, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38075955

RESUMEN

Background: An ablation catheter and a circular mapping catheter requiring a double transeptal puncture (TSP) for left atrial access have been conventionally used for atrial fibrillation (AF) ablation. Recently, different operators have combined a single transseptal puncture technique with 3D high-density mapping catheters for pulmonary vein isolation (PVI). Objective: This study aims to compare two strategies, single vs. double TSP, regarding the duration of the procedure, radiation time, complication rates, and outcomes. Methods: Retrospective analysis of a large cohort of consecutive patients that underwent first PVI with radiofrequency energy (RF), using a point-by-point strategy, with a 3D mapping system, either with single or double TSP, according to the operator's choice. Results: 285 patients with a mean age of 59.5 ± 11.6 years (36.5% female, 67.7% paroxysmal AF) underwent a point-by-point catheter ablation with RF between July 2015 and March 2020. The mean CHA2DS2-VASc score was 1.7 ± 1.3. Single TSP was performed in 115 (40.3%) patients and double TSP in 170 (59.6%). The operator's experience (≥5 years of AF ablation procedures) was equally distributed among the two groups. The average procedure time (133 ± 31.7 min vs. 123 ± 35.5 min, for single and double TSP, respectively) did reach a statistical difference between both groups (p = 0.008), but there was a substantial advantage regarding fluoroscopy time (13 ± 6.3 min vs. 19 ± 9.1 min, for single and double TSP, respectively; p < 0.001). Acute major complications present similar rates in both groups (2.6% vs. 2.3%, p = 0.799). At the 2-year follow-up, both groups had a similar sinus rhythm maintenance rate (76.5% vs. 78.8%, p = 0.646). Conclusion: A simplified single-TSP technique using high-density multi-electrode 3D mapping is a safe and highly successful option for AF ablation. This approach yields a substantial reduction in fluoroscopy time, with the potential to avoid acute complications, compared to a conventional double-TSP strategy.

13.
Front Vet Sci ; 10: 1181659, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38076548

RESUMEN

The sex of the animals is of paramount importance in many animal production systems. This is particularly evident in the production of milk or in breeding programs focused on the production of female animals. In some cases, slaughter or euthanasia of animals of the unwanted sex becomes the only solution, highlighting ethical and economic concerns. As global demand for food continues to rise, the importance of addressing these issues becomes more evident. Reproductive technologies, such as sperm sexing techniques, may hold the key to addressing both animal welfare and the sustainability of animal production. The use of semen enriched with sperm capable of producing offspring of the desired sex can serve as a valuable tool for producers to exert greater control over production outcomes, not only helping to mitigate welfare issues related to the unnecessary premature death of unwanted offspring but also providing a possible ally in the face of stricter animal welfare guidelines. In addition, sexed semen can also contribute to financial gains and reduce greenhouse gas emissions and food waste associated with the less profitable part of the herd. This paper explores the positive impacts that sperm sexing can have on animal welfare, economy, and environment. It also discusses currently available options and strategies for more successful implementation of sexed semen. Partnerships between companies and scientists will be essential to find innovative ways to adapt current production systems and develop sperm sexing technologies that apply to most livestock industries.

14.
Adv Med Sci ; 68(2): 402-408, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37837799

RESUMEN

PURPOSE: Dipeptidyl peptidase 4 (DPP4) inactivates a range of bioactive peptides. The cleavage of insulinotropic peptides and glucagon-like peptide 1 (GLP1) by DPP4 directly influences glucose homeostasis. This study aimed to describe the mode of interaction between sitagliptin (an antidiabetic drug) and human DPP4 using in silico approaches. MATERIALS AND METHODS: Docking studies were conducted using AutoDock Vina, 2D and 3D schematic drawings were obtained using PoseView and PLIP servers, and the DPP4-sitagliptin complex was visualized with Pymol software. RESULTS: The best affinity energy to form the DPP4-sitagliptin complex was E-value â€‹= â€‹- 8.1 â€‹kcal â€‹mol-1, as indicated by docking simulations. This result suggests a strong interaction. According to our observations, hydrophobic interactions involving the amino acids residues Tyr663 and Val712, hydrogen bonds (Glu203, Glu204, Tyr663, and Tyr667), π-Stacking interactions (Phe355 and Tyr667), and halogenic bonds (Arg123, Glu204, and Arg356) were prevalent in the DPP4-sitagliptin complex. Root Mean Square Deviation prediction also demonstrated that the global structure of the human DPP4 did not have a significant change in its topology, even after the formation of the DPP4-sitagliptin complex. CONCLUSION: The stable interaction between the sitagliptin ligand and the DPP4 enzyme was demonstrated through molecular docking simulations. The findings presented in this work enhance the understanding of the physicochemical properties of the sitagliptin interaction site, supporting the design of more efficient gliptin-like iDPP4 inhibitors.


Asunto(s)
Diabetes Mellitus Tipo 2 , Inhibidores de la Dipeptidil-Peptidasa IV , Humanos , Fosfato de Sitagliptina/farmacología , Simulación del Acoplamiento Molecular , Inhibidores de la Dipeptidil-Peptidasa IV/farmacología , Inhibidores de la Dipeptidil-Peptidasa IV/química , Hipoglucemiantes/farmacología , Hipoglucemiantes/química , Péptidos
15.
Semin Ultrasound CT MR ; 44(5): 408-423, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37690793

RESUMEN

There are many vascular disorders that can affect the spinal cord, and their prevalence and etiology are highly influenced by age, sex, and risk factors. This article reviews the embryology and anatomy of the spinal cord, as well as several vascular conditions, describing their clinical and imaging presentation, emphasizing the different imaging modalities' contributions to increasing specificity and better defining the most appropriate therapy strategy for improving the patient's prognosis.


Asunto(s)
Enfermedades de la Médula Espinal , Enfermedades Vasculares , Humanos , Enfermedades Vasculares/diagnóstico por imagen , Factores de Riesgo , Enfermedades de la Médula Espinal/diagnóstico por imagen
16.
Semin Ultrasound CT MR ; 44(5): 452-463, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37555682

RESUMEN

Metabolic and toxic myelopathies usually occurs due to several different causes. Metabolic myelopathy usually occurs due to deficiency of a nutrient, such as vitamin B12. Toxic myelopathy occurs secondary to the exposure to an external toxic agent. Although they may have a difficult diagnosis, determination of the specific cause of myelopathy is of utmost importance, because many causes are amenable to treatment. Although they have many clinical, electrophysiologic, and neuropathologic similarities, imaging may aid in the suspicion of toxic or metabolic myelopathy. The aim of this article, is to review the imaging features of the main toxic and metabolic myelopathies.


Asunto(s)
Enfermedades de la Médula Espinal , Humanos , Enfermedades de la Médula Espinal/diagnóstico por imagen , Enfermedades de la Médula Espinal/etiología , Diagnóstico por Imagen
17.
Theriogenology ; 208: 43-51, 2023 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-37295289

RESUMEN

The objectives of this study were to establish baseline information for seminal traits in Lusitano stallions, to assess the impact of inbreeding, interval between collections and age on semen quality during the breeding and non-breeding seasons, and to estimate the corresponding genetic parameters. A total of 2129 ejaculates by 146 Lusitano stallions used for artificial insemination, obtained from four equine reproduction centers distributed throughout Portugal, over a period of 14 years (2008-2021), were included in the study. The seminal traits analyzed, and the corresponding means and standard deviations, were gel-free volume (56.95 ± 28.76 mL), concentration (186.48 ± 104.68 × 106), motility (64.1 ± 16.9%), total number of spermatozoa (TNS) (9.271 ± 4.956 × 109) and total number of motile spermatozoa per ejaculate (TNMS) (5.897 ± 3.587 × 109). These results are in the normal range of values described for other breeds. In the stallions analyzed, the mean value for the inbreeding coefficient was 7.93 ± 5.29%, and for age it was 12.70 ± 6.83 years. A significant decline in sperm concentration, motility, TNS, and TNMS was observed as inbreeding increased. The season also influenced sperm concentration, motility, TNS and TNMS, with the highest values observed during the breeding season. When considering the impact of age on Lusitano seminal parameters, results showed a nonlinear relationship, with a positive effect until 18 years of age for volume, motility, TNS and TNMS and a negative effect after this age, with a slow decrease. However, age had a markedly negative effect on sperm concentration. The interval between semen collections only affected (P < 0.05) sperm motility, with a regression coefficient of +1.89 ± 2.17% per additional day. Genetic parameters were estimated with an Animal Model, and the estimated heritability (repeatability) was 0.27 (0.35) for volume, 0.02 (0.38) for sperm concentration, 0.24 (0.44) for motility, 0.29 (0.39) for TNS and 0.41 (0.41) for TNMS. These results suggest that it is possible to improve semen quality by selection and that the properties of semen produced by a stallion tend to remain consistent throughout its lifetime. Furthermore, the impact of inbreeding should be taken into consideration when selecting Lusitano stallions for fertility.


Asunto(s)
Endogamia , Análisis de Semen , Masculino , Animales , Caballos/genética , Análisis de Semen/veterinaria , Semen , Motilidad Espermática/genética , Recuento de Espermatozoides/veterinaria
18.
Front Plant Sci ; 14: 1204836, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37324691

RESUMEN

Introduction: Alkaline soils with iron (Fe) deficiency are found in many regions of the world, and the use of silicon (Si) can mitigate the damages caused by such deficiency. The aim of this study was to evaluate the effect of Si in mitigating a moderate deficiency of Fe in two energy cane cultivars. Methods: Two experiments were performed, one with the VX2 cultivar and the other with the VX3 cultivar of energy cane, which were cultivated in pots with sand and a nutrient solution. In both experiments, treatments followed a factorial scheme 2x2, designed based on the sufficiency and deficiency of Fe, being combined with the absence or presence of Si (2.5 mmol L-1), disposed in a randomized blocks design with six replicates. In the condition of Fe sufficiency, plants were cultivated in a solution containing 368 µmol L-1 of Fe, while plants cultivated under deficiency were initially submitted to cultivation with a 54 µmol L-1 concentration of Fe for 30 days, and later, with Fe complete omission for 60 days. The supply of Si was carried out by applying 15 fertirrigations with Si (via root and leaf) during the initial stage of seedling development, and after transplanting, the nutrient solution was added daily (via root). Results and discussion: Both cultivars of energy cane were sensitive to Fe deficiency in the absence of Si, impairing its growth by causing stress and pigment degradation, thus reducing the photosynthesis efficiency. The supply of Si mitigated the damages caused by Fe deficiency in both cultivars, by increasing Fe accumulation in new and intermediate leaves, stem, and roots in the VX2 cultivar, and in new, intermediate, and old leaves and stem in the VX3 cultivar, which in turn reduced stress and favored both the nutritional and photosynthesis efficiency, while increasing the dry matter production. Si by modulating physiological and nutritional mechanisms, mitigates Fe deficiency in two energy cane cultivars. It was concluded that Si can be used as a strategy to improve growth and nutrition of energy cane in environments that are susceptible to Fe deficiency.

19.
Neuroradiology ; 65(11): 1665-1668, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37311984

RESUMEN

Chagas disease is an infection caused by Trypanosoma cruzi, a parasite endemic in Latin America. Acute involvement of the CNS by Chagas has been considered rare, but presumed reactivation of chronic disease in immunosuppressed patients has been the subject of recent reports. Our objective is to describe the clinical and imaging characteristics of four patients with Chagas disease and CNS involvement, and the patients had to have available MRI and a diagnosis confirmed by biopsy. The imaging findings were similar, highlighting the presence of focal cerebral lesions with hypointensity on T2-WI, and these lesions assume a "bunch of acai berries appearance", a fruit involved in the transmission of T. cruzi. The post Gd T1-WI shows punctate enhancement. Knowledge of this pattern may be crucial to recognize this disease in immunocompromised patients from endemic areas.


Asunto(s)
Neoplasias del Sistema Nervioso Central , Enfermedad de Chagas , Euterpe , Trypanosoma cruzi , Humanos , Euterpe/parasitología , Enfermedad de Chagas/diagnóstico por imagen , Enfermedad de Chagas/epidemiología , Enfermedad de Chagas/parasitología , Radiografía
20.
J Neuromuscul Dis ; 10(4): 483-492, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37182895

RESUMEN

BACKGROUND: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a severe, congenital type to a milder, late-onset form. However, the disease does not only affect the muscles, but has systemic involvement and can lead to alterations such as brain malformation, epilepsy and intellectual disability. OBJECTIVE: Describe the frequency of cortical malformations, epilepsy and intellectual disability in LAMA2-RD in a Brazilian cohort and correlate the neurological findings to genetic and motor function. METHODS: This is an observational study of 52 LAMA2-RD patients, who were divided into motor function subgroups and compared based on brain MRI findings, epilepsy, intellectual disability, and type of variants and variant domains. RESULTS: 44 patients (84.6%) were only able to sit, and 8 patients (15.4%) were able to walk. 10 patients (19.2%) presented with cortical malformations (polymicrogyria, lissencephaly-pachygyria, and cobblestone),10 patients (19.2%) presented with epilepsy, and 8 (15.4%) had intellectual disability. CNS manifestations correlated with a more severe motor phenotype and none of the patients able to walk presented with cortical malformation or epilepsy. There was a relation between gene variants affecting the laminin-α2 LG-domain and the presence of brain malformation (P = 0.016). There was also a relation between the presence of null variants and central nervous system involvement. A new brazilian possible founder variant was found in 11 patients (21,15%) (c.1255del; p. Ile419Leufs*4). CONCLUSION: Cortical malformations, epilepsy and intellectual disability are more frequent among LAMA2-RD patients than previously reported and correlate with motor function severity and the presence of variants affecting the laminin-α2 LG domain. This brings more insight fore phenotype-genotype correlations, shows the importance of reviewing the brain MRI of patients with LAMA2-RD and allows greater attention to the risk of brain malformation, epilepsy, and intellectual disability in those patients with variants that affect the LG domain.


Asunto(s)
Epilepsia , Discapacidad Intelectual , Humanos , Encéfalo/diagnóstico por imagen , Epilepsia/diagnóstico por imagen , Epilepsia/genética , Genotipo , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/genética , Laminina/genética , Imagen por Resonancia Magnética , Fenotipo
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