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1.
Clin Genet ; 106(5): 644-649, 2024 Nov.
Article de Anglais | MEDLINE | ID: mdl-39015008

RÉSUMÉ

Limb-girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra-rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G/R7 were reviewed from July 2017 to August 2023. Additionally, a systematic literature review was conducted to identify case reports and series of the disease worldwide. Forty-one LGMD2G/R7 cases were described in the Brazilian cohort, being all subjects homozygous for the c.157C>T/(p.Gln53*) variant in TCAP. Survival curves showed that the median disease duration before individuals required walking aids was 21 years. Notably, women exhibited a slower disease progression, requiring walking aids 13 years later than men. LGMD2G/R7 was frequently reported not only in Brazil but also in China and Bulgaria, with 119 cases identified globally, with possible founder effects in the Brazilian, Eastern European, and Asian populations. These findings are pivotal in raising awareness of LGMD2G/R7, understanding its progression, and identifying potential modifiers. This can significantly contribute to the development of future natural history studies and clinical trials for this disease.


Sujet(s)
Dystrophies musculaires des ceintures , Mutation , Humains , Dystrophies musculaires des ceintures/génétique , Dystrophies musculaires des ceintures/épidémiologie , Dystrophies musculaires des ceintures/diagnostic , Mâle , Brésil/épidémiologie , Femelle , Adulte , Adolescent , Adulte d'âge moyen , Enfant , Études de cohortes , Jeune adulte , Pedigree , Connectine/génétique , Phénotype , Prédisposition génétique à une maladie , Enfant d'âge préscolaire
2.
Naturwissenschaften ; 111(4): 33, 2024 Jun 21.
Article de Anglais | MEDLINE | ID: mdl-38904668

RÉSUMÉ

Some parasitic fungi can increase fitness by modifying the behavior of their hosts. These behaviors are known as extended phenotypes because they favor parasitic gene propagation. Here, we studied three lineages of Ophiocordyceps, a fungus that infects ants, altering their conduct before death. According to fungal strategy, ants may die in leaf litter, with entwined legs in branches, under the moss mat, or biting plant tissue. It is critical for parasites that the corpses stay at these places because Ophiocordyceps exhibit iteroparity, possibly releasing spores in multiple life cycles. Thus, we assumed substrate cadaver permanence as a fungi reproductive proxy and corpse height as a proxy of cadaver removal. We hypothesize that biting vegetation and dying in higher places may increase the permanence of ant corpses while avoiding possible corpse predation on the forest floor. We monitored over a year more than 4000 zombie ants in approximately 15 km2 of undisturbed tropical forest in central Amazonia. Our results show a longer permanence of corpses with increasing ground height, suggesting that the parasites may have better chances of releasing spores and infecting new hosts at these places. We found that the zombie ants that last longer on the substrate die under the moss mat in tree trunks, not necessarily biting vegetation. The biting behavior appears to be the most derived and complex mechanism among Ophiocordyceps syndromes. Our results put these findings under a new perspective, proposing that seemingly less complex behavioral changes are ecologically equivalent and adaptative for other parasite lineages.


Sujet(s)
Fourmis , Phénotype , Fourmis/physiologie , Fourmis/microbiologie , Fourmis/parasitologie , Animaux , Hypocreales/physiologie , Brésil , Comportement animal/physiologie , Interactions hôte-parasite/physiologie
3.
Clin Genet ; 106(3): 305-314, 2024 Sep.
Article de Anglais | MEDLINE | ID: mdl-38747280

RÉSUMÉ

LAMA2-related dystrophies (LAMA2-RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype-phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited. In this retrospective study, we reviewed the genetic data and medical records of 114 LAMA2-RD patients enrolled at seven research centers in Brazil. We identified 58 different pathogenic variants, including 21 novel ones. Six variants were more prevalent and were present in 81.5% of the patients. Notably, the c.1255del, c.2049_2050del, c.3976 C>T, c.5234+1G>A, and c.4739dup variants were found in patients unable to walk and without cortical malformation. In contrast, the c.2461A>C variant was present in patients who could walk unassisted. Among ambulatory patients, missense variants were more prevalent (p < 0.0001). Although no specific hotspot regions existed in the LAMA2, 51% of point mutations were in the LN domain, and 88% of the missense variants were found within this domain. Functional analysis was performed in one intronic variant (c.4960-17C>A) and revealed an out-of-frame transcript, indicating that the variant creates a cryptic splicing site (AG). Our study has shed light on crucial phenotype-genotype correlations and provided valuable insights, particularly regarding the Latin American population.


Sujet(s)
Études d'associations génétiques , Laminine , Humains , Laminine/génétique , Mâle , Brésil/épidémiologie , Femelle , Enfant , Enfant d'âge préscolaire , Adolescent , Adulte , Profil génétique , Phénotype , Études rétrospectives , Dystrophies musculaires/génétique , Mutation , Jeune adulte , Prédisposition génétique à une maladie , Nourrisson , Génotype , Adulte d'âge moyen
4.
Ecol Lett ; 27(5): e14443, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38803140

RÉSUMÉ

Recent proliferation of GPS technology has transformed animal movement research. Yet, time-series data from this recent technology rarely span beyond a decade, constraining longitudinal research. Long-term field sites hold valuable historic animal location records, including hand-drawn maps and semantic descriptions. Here, we introduce a generalised workflow for converting such records into reliable location data to estimate home ranges, using 30 years of sleep-site data from 11 white-faced capuchin (Cebus imitator) groups in Costa Rica. Our findings illustrate that historic sleep locations can reliably recover home range size and geometry. We showcase the opportunity our approach presents to resolve open questions that can only be addressed with very long-term data, examining how home ranges are affected by climate cycles and demographic change. We urge researchers to translate historical records into usable movement data before this knowledge is lost; it is essential to understanding how animals are responding to our changing world.


Sujet(s)
Cebus , Changement climatique , Animaux , Costa Rica , Cebus/physiologie , Comportement d'orientation , Systèmes d'information géographique , Dynamique des populations , Démographie
5.
Viruses ; 16(2)2024 02 16.
Article de Anglais | MEDLINE | ID: mdl-38400077

RÉSUMÉ

The hepatitis E virus is a major etiological agent of chronic hepatitis in immunosuppressed individuals. Seroprevalence in the liver transplantation setting varies according to the seroprevalence of the general population in different countries. This was a prospective cohort study of liver transplant recipients in southeastern Brazil. Recipients were systematically followed for one year, with the objective of determining the prevalence, incidence, and natural history of HEV infection in this population. We included 107 liver transplant recipients and 83 deceased donors. Positivity for anti-HEV IgG was detected in 10.2% of the recipients and in 9.7% of the donors. None of the patients tested positive for HEV RNA at baseline or during follow-up. There were no episodes of reactivation or seroconversion, even in cases of serological donor-recipient mismatch or in recipients with acute hepatitis. Acute and chronic HEV infections seem to be rare events in the region studied. That could be attributable to social, economic, and environmental factors. Our data indicate that, among liver transplant recipients, hepatitis E should be investigated only when there are elevated levels of transaminases with no defined cause, as part of the differential diagnosis of seronegative hepatitis after transplantation.


Sujet(s)
Virus de l'hépatite E , Hépatite E , Transplantation hépatique , Humains , Virus de l'hépatite E/génétique , Transplantation hépatique/effets indésirables , Études prospectives , Brésil/épidémiologie , Études séroépidémiologiques , Réinfection , ARN viral/génétique , Études de cohortes , Anticorps de l'hépatite , Infection persistante
6.
J Ethnobiol Ethnomed ; 20(1): 26, 2024 Feb 26.
Article de Anglais | MEDLINE | ID: mdl-38409064

RÉSUMÉ

BACKGROUND: Frederico José de Santa-Anna Nery (1848-1901) was a Brazilian Baron who referred to himself as a "volunteer propagandist" for Brazil in Europe, serving as an immigration agent to publicize the living conditions in the Amazon region, advocating for its development and modernization at the end of the nineteenth century. Santa-Anna Nery's most famous book is "Le Pays des Amazones" (The Lands of the Amazons), first published in 1885, which the author dedicated a chapter to introduce and report on the Amazonian useful plant species and its relationship with humans. The aim of this work is to understand the historical context and ethnobotanical value of the plant species in the Brazilian Amazon at the end of the nineteenth century through an analysis of the book "Le Pays des Amazones" (1885) by Baron de Santa-Anna Nery, as well as to bring to light the historical importance of this very influential propagandist, who has been forgotten nowadays. METHODS: The original book "Le Pays des Amazones" (1885), as well as the original 3rd edition and its translated version into Portuguese, was carefully analyzed and all information about plants was systematized, with botanical names being updated. Finally, using the scientific name of medicinal plants alone or in combination with their traditional use, a search was carried out in databases in order to indicate current pharmacological studies that provide evidence about the described traditional uses. RESULTS: A total of 156 plant species were identified in the book, although 132 species had their scientific names updated. These species belong to 45 different families, with Fabaceae and Arecaceae the most represented, and 109 plants are Brazilian native. Considering only the 36 medicinal plants, the main medicinal indications reported were astringent, purgative/laxative, stimulant and tonic, vermifuge, febrifuge, sudorific, emetic, diuretic and antidysenteric. Regarding other useful plants (non-medicinal), 97 species were cited for food, constructions and buildings, spices and condiments, ornaments and objects, carpentry, textile fibers, gums, oils, balms and essences, pigments and tanning, hunting and fishing. CONCLUSIONS: When the book "Le Pays des Amazones" is analyzed from a timeless perspective, with a particular focus on historical ethnobotany, it is possible to observe the economic, social, and political importance of many useful plants for the Amazon at the end of the nineteenth century and how the relationship between local people, indigenous communities, and immigrants was established with plant biodiversity.


Sujet(s)
Ethnobotanique , Plantes médicinales , Humains , Ethnobotanique/histoire , Brésil , Europe , Phytothérapie/histoire
7.
Neotrop Entomol ; 53(1): 101-109, 2024 Feb.
Article de Anglais | MEDLINE | ID: mdl-37878204

RÉSUMÉ

The present study describes the immature stages of Opoptera syme (Hübner, [1821]) using SEM and Micro-CT to generate 2D and 3D models to study the morphology and chaetotaxy, and present information on the natural history, behavior, and population biology. In laboratory, eggs were laid singly, and the isolated larvae passed through six to seven instars. Host plant in the study site is unknown, but larvae are known to feed on bamboos; in laboratory, larvae accepted the ornamental bamboo Bambusa textilis McClure, 1940. Adults are diurnal and univoltine, flying from December to April (the austral summer). The present study adds information to the biology and natural history of Brassolini, an iconic and still poorly known tribe of Neotropical butterflies.


Sujet(s)
Papillons , Lepidoptera , Animaux , Papillons/anatomie et histologie , Brésil , Larve/anatomie et histologie , Saisons , Biologie
8.
Cad. Saúde Pública (Online) ; 40(7): e00152023, 2024. tab, graf
Article de Anglais | LILACS-Express | LILACS | ID: biblio-1568993

RÉSUMÉ

Abstract: Since May 2020, we have been conducting a comprehensive study to understand the natural history of SARS-CoV-2 infection in Rio de Janeiro, Brazil. Our focus has been on following families, systematically collecting respiratory tract swabs and blood samples, monitoring symptoms, and gathering data on vaccine status. This paper aims to describe the household cohort across five epidemic waves of SARS-CoV-2, providing an overview of the collected data and a description of the epidemiological, clinical, and immunological characteristics and incidence of SARS-CoV-2 infection. Our cohort includes 691 participants from 189 households. During the five epidemic waves, we detected 606 infections. The incidence density of SARS-CoV-2 infection ranged from 4 (Delta) to 56 (B.1.1.33) per 1,000 person-week, with a peak in wave B.1.1.33 in all age groups. The seroprevalence of SARS-CoV-2 antibodies (IgG anti spike protein) varied from 37%, in the pre-VoC period, to 99%, in the Omicron period, progressively increasing after each wave in a similar manner regardless of age. As we have monitored the cohort continuously since the beginning of the pandemic, we were able to collect data across different scenarios according to the predominant lineage in circulation. Via active monitoring of families, we were able to carry out an epidemiological surveillance on SARS-CoV-2, including its variants, persistence of symptoms, and changes in immunity over time in the population, contributing to knowledge of the natural history of SARS-CoV-2 infection.


Resumo: Desde maio de 2020, temos conduzido um estudo abrangente para entender a história natural da infecção por SARS-CoV-2 no Rio de Janeiro, Brasil. Nosso foco tem sido acompanhar as famílias das quais coletamos sistematicamente amostras de sangue e do trato respiratório, monitoramos os sintomas e reunimos dados sobre o status de vacinação. Este artigo tem como objetivo descrever a coorte de domicílios ao longo de cinco ondas epidêmicas de SARS-CoV-2, fornecendo uma visão geral dos dados coletados e uma descrição das características epidemiológicas, clínicas e imunológicas e da incidência da infecção por SARS-CoV-2. Nossa coorte inclui 691 participantes de 189 domicílios. Ao longo das cinco ondas epidêmicas, detectamos 606 infecções. A densidade de incidência da infecção por SARS-CoV-2 variou de 4 (Delta) a 56 (B.1.1.33) a cada 1.000 pessoas por semana e foi mais alta na onda B.1.1.33 em todas as faixas etárias. A soroprevalência de anticorpos contra o SARS-CoV-2 (proteína IgG anti-spike) variou de 37% no período pré-VoC a 99% no período Omicron e aumentou onda após onda de maneira semelhante, independentemente da idade dos participantes. Como monitoramos a coorte continuamente desde o início da pandemia, pudemos coletar dados em diferentes cenários, de acordo com a cepa predominante em circulação. Por meio do monitoramento ativo das famílias, conseguimos conduzir uma vigilância epidemiológica do SARS-CoV-2, de suas variantes, da persistência dos sintomas e das mudanças na imunidade da população ao longo do tempo, contribuindo para o conhecimento da história natural da infecção pelo SARS-CoV-2.


Resumen: Desde mayo de 2020 se realiza un estudio exhaustivo con el fin de estimar el curso natural de la infección por SARS-CoV-2 en Río de Janeiro, Brasil. Se aplica un seguimiento a las familias en el cual se recolectan sistemáticamente muestras de sangre y de las vías respiratorias, se controlan los síntomas y se recogen datos sobre el estado de vacunación. Este artículo tiene como objetivo describir la cohorte de hogares durante cinco olas epidémicas de SARS-CoV-2, y proporcionar una visión general de los datos recopilados y una descripción de las características epidemiológicas, clínicas e inmunológicas, y de la incidencia de la infección por SARS-CoV-2. La cohorte incluyó a 691 participantes de 189 hogares. A lo largo de las cinco olas epidémicas, se detectaron 606 infecciones. La densidad de incidencia de la infección por SARS-CoV-2 varió de 4 (Delta) a 56 (B.1.1.33) por cada 1.000 personas por semana, y fue más alta en la ola B.1.1.33 en todos los grupos de edad. La seroprevalencia de anticuerpos contra el SARS-CoV-2 (proteína IgG antipico) varió del 37% en el período anti-VOC al 99% en el período Ómicron y aumentó ola tras ola de manera similar, independientemente de la edad de los participantes. El monitoreo continuo de la cohorte desde el comienzo de la pandemia permitió recopilar datos en diferentes escenarios según la cepa predominante en circulación. A partir del monitoreo activo de las familias, se realizó una vigilancia epidemiológica del SARS-CoV-2, sus variantes, la persistencia de los síntomas y los cambios en la inmunidad de la población a lo largo del tiempo, contribuyendo al conocimiento del curso natural de la infección por SARS-CoV-2.

9.
Cancers (Basel) ; 15(18)2023 Sep 05.
Article de Anglais | MEDLINE | ID: mdl-37760400

RÉSUMÉ

Pancreatic ductal adenocarcinoma has a very high mortality rate which has been only minimally improved in the last 30 years. This high mortality is closely related to late diagnosis, which is usually made when the tumor is large and has extensively infiltrated neighboring tissues or distant metastases are already present. This is a paradoxical situation for a tumor that requires nearly 15 years to develop since the first founding mutation. Response to chemotherapy under such late circumstances is poor, resistance is frequent, and prolongation of survival is almost negligible. Early surgery has been, and still is, the only approach with a slightly better outcome. Unfortunately, the relapse percentage after surgery is still very high. In fact, early surgery clearly requires early diagnosis. Despite all the advances in diagnostic methods, the available tools for improving these results are scarce. Serum tumor markers permit a late diagnosis, but their contribution to an improved therapeutic result is very limited. On the other hand, effective screening methods for high-risk populations have not been fully developed as yet. This paper discusses the difficulties of early diagnosis, evaluates whether the available diagnostic tools are adequate, and proposes some simple and not-so-simple measures to improve it.

10.
Acta neurol. colomb ; 39(3)sept. 2023.
Article de Espagnol | LILACS | ID: biblio-1533498

RÉSUMÉ

Introducción: La epilepsia del lóbulo temporal mesial se considera la más frecuente de las epilepsias focales, con signos y síntomas característicos que ayudan a definir su diagnóstico. Contenidos: Dentro de su historia natural, las crisis pueden iniciar en los primeros años de vida, usualmente como episodios febriles con un periodo de remisión, para reaparecer en la adolescencia o en el adulto joven. La presentación electroencefalográfica tiene un patrón característico, con aparición de puntas y ondas agudas interictales en la región temporal anterior, por lo general unilaterales, y con actividad ictal generalmente theta en la misma localización. La causa más frecuente es la esclerosis del hipocampo. El tratamiento con medicamentos anticrisis puede controlar la epilepsia, aunque algunos casos pueden evolucionar a la farmacorresistencia, en la cual la cirugía de epilepsia está indicada, y tiene buenos resultados. Conclusiones: Esta revisión se centra en la descripción de las características electroclínicas de la epilepsia temporal mesial, para hacer un diagnóstico temprano e iniciar un tratamiento adecuado, a efectos de lograr un mejor pronóstico y una mejor calidad de vida para los pacientes con epilepsia y sus familiares.


Introduction: Mesial temporal lobe epilepsy is considered the most common of the focal epilepsies, with characteristic signs and symptoms that help define its diagnosis. Contents: In the natural history of the disease, seizures can begin in the first years of life, usually as febrile seizures with a period of remission, to reappear in adolescence or in the young adult. The electroencephalographic presentation has a characteristic pattern with the appearance of interictal sharp waves and spikes in the anterior temporal region, usually unilateral, and with generally theta ictal activity in the same location. The most common cause is hippocampal sclerosis. Treatment with antiseizure medication can control epilepsy. However, in some cases evolution of drug resistance can occur, leading to epilepsy surgery as the most appropriate treatment, based on its good results. Conclusions: This review focuses on the description of the electroclinical characteristics of temporal mesial epilepsy, in order to make an early diagnosis and adequate treatment, thus providing a better prognosis and quality of life for patients with epilepsy and their families.


Sujet(s)
Qualité de vie , Crises convulsives fébriles , Diagnostic , Épilepsie temporale , Patients , Pronostic , Sclérose , Revue de la littérature , Histoire naturelle
11.
Age Ageing ; 52(7)2023 07 01.
Article de Anglais | MEDLINE | ID: mdl-37517058

RÉSUMÉ

BACKGROUND: intrinsic capacity (IC) is a construct encompassing people's physical and mental abilities. There is an implicit link amongst IC domains: cognition, locomotion, nutrition, sensory and psychological. However, little is known about the integration of the domains. OBJECTIVES: to investigate patterns in the presentation and evolution of IC domain impairments in low-and-middle-income countries and if such patterns were associated with adverse outcomes. METHODS: secondary analyses of the first two waves of the 10/66 study (population-based surveys conducted in eight urban and four rural catchment areas in Cuba, Dominican Republic, Puerto Rico, Venezuela, Peru, Mexico and China). We applied latent transition analysis on IC to find latent statuses (latent clusters) of IC domain impairments. We evaluated the longitudinal association of the latent statuses with the risk of frailty, disability and mortality, and tested concurrent and predictive validity. RESULTS: amongst 14,923 participants included, the four latent statuses were: high IC (43%), low deterioration with impaired locomotion (17%), high deterioration without cognitive impairment (22%), and high deterioration with cognitive impairment (18%). A total of 61% of the participants worsened over time, 35% were stable, and 3% improved to a healthier status.Participants with deteriorated IC had a significantly higher risk of frailty, disability and dementia than people with high IC. There was strong concurrent and predictive validity. (Mortality Hazard Ratio = 4.60, 95%CI 4.16; 5.09; Harrel's C = 0.73 (95%CI 0.72;0.74)). CONCLUSIONS: half of the study population had high IC at baseline, and most participants followed a worsening trend. Four qualitatively different IC statuses or statuses were characterised by low and high levels of deterioration associated with their risk of disability and frailty. Locomotion and cognition impairments showed other trends than psychological and nutrition domains across the latent statuses.


Sujet(s)
Fragilité , Humains , Fragilité/diagnostic , Fragilité/épidémiologie , Mexique/épidémiologie , Cuba/épidémiologie , République dominicaine/épidémiologie , État de santé
12.
J Ethnobiol Ethnomed ; 19(1): 17, 2023 May 12.
Article de Anglais | MEDLINE | ID: mdl-37173737

RÉSUMÉ

BACKGROUND: This work reunites many women naturalists who registered knowledge about native flora in scientific expeditions around the globe between the seventeenth and nineteenth centuries. Since male naturalists are more recognized in this period of time, we aimed to list female naturalists that published plant descriptions and observations, focusing on the work of Maria Sibylla Merian and to analyze her trajectory as an example to discuss the patterns of the suppression of women scientists. A second aim was to inventory the useful plants described in Maria Sibylla's Metamorphosis Insectorum Surinamensium and find pharmacological evidence about the traditional uses described for those plants cited as medicinal and toxic. METHODS: A survey of female naturalists was carried out by searching information in Pubmed, Scielo, Google Scholar and Virtual Health Library. Once Maria Sibylla published her book Metamorphosis Insectorum Surinamensium by her own, without male co-authors, and also this book is one of the only to have text and illustrations altogether and there are reports indicating information on useful plants in this work, she and her book were chosen as subject of this research. All the information was tabulated by dividing the plants into food, medicinal, toxic, aromatic or other uses. Finally, with the combinations of the scientific name of medicinal and toxic plants with information about their popular uses, a search was carried out in databases in order to indicate current pharmacological studies that reported evidences about the traditional uses described. RESULTS: We found 28 women naturalists who participated in scientific expeditions or trips, or in a curiosity cabinet, or who were collectors of Natural History between the seventeenth and nineteenth centuries. All these women illustrated botanical species and/or recorded their everyday or medicinal use or reported their observations in the form of a published work, letters or diaries. Also, the trajectory of Maria Sibylla Merian revealed that her scientific relevance has been neglected from the eighteenth century by mechanisms of suppression, most of the time by male depreciation, which can be seen as a pattern for suppression of women in science. However, Maria Sibyllas' contributions have been valued again in the twenty-first century. In Maria Sibylla's work, 54 plants were identified, 26 of them used for food, 4 of them aromatic, 8 medicinal, 4 toxic and 9 other uses. CONCLUSION: This study evidences that there are female naturalists whose work could be an important source for ethnopharmacological studies. Researching about women scientists, talking about them and highlighting the gender bias present in the scientific academy about the way the history of science is told is essential for the construction of a more diverse and richer scientific academy. The traditional use of 7 of 8 medicinal plants and 3 of 4 toxic plants reported was correlated with pharmacological studies, highlighting the importance of this historical record and its potential to direct strategic research in traditional medicine.


Sujet(s)
Plantes médicinales , Sexisme , Humains , Femelle , Mâle , Ethnopharmacologie/histoire , Médecine traditionnelle/histoire , Histoire naturelle/histoire , Phytothérapie/histoire , Ethnobotanique/histoire
13.
Genes (Basel) ; 14(4)2023 04 08.
Article de Anglais | MEDLINE | ID: mdl-37107640

RÉSUMÉ

SATB2-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published reports are limited to children, with little information about the natural history of the disease and the possible novel signs and symptoms or behavioral changes in adulthood. We describe the management and follow-up of a 25-year-old male with SAS due to a de novo heterozygous nonsense variant SATB2:c.715C>T:p.(Arg239*) identified by whole-exome sequencing and review the literature. The case herein described contributes to a better characterization of the natural history of this genetic condition and in addition to the genotype-phenotype correlation of the SATB2:c.715C>T:p.(Arg239*) variant in SAS, highlights some particularities of its management.


Sujet(s)
Déficience intellectuelle , Protéines de liaison aux séquences d'ADN MAR , Mâle , Humains , Phénotype , Protéines de liaison aux séquences d'ADN MAR/génétique , Syndrome , Études d'associations génétiques , Déficience intellectuelle/génétique , Facteurs de transcription/génétique
14.
Rev. peru. biol. (Impr.) ; 30(2)abr. 2023.
Article de Espagnol | LILACS-Express | LILACS | ID: biblio-1515499

RÉSUMÉ

Se reporta la primera observación de un espécimen leucístico en el Juil de Jamapa, Rhamdia laticauda en el noreste del estado de Oaxaca. En un estudio ictiológico de la Reserva de la Biosfera Tehuacán-Cuicatlán en el río Xiquila de la cuenca alta del río Papaloapan, el pez se capturó con pesca eléctrica y se fotografió. El bagre vivo mostró una reducción de pigmentos en la piel, manchas blancas y ojos negros normales. Esto contribuye al conocimiento de la variabilidad intraespecífica y la historia natural de R. laticauda. Se discuten las causas potenciales de esta anomalía de color.


Here, we report the first observation of a leucistic specimen in the Rock catfish, Rhamdia laticauda in the Northeast of Oaxaca, Mexico. We caught the specimen by electric fishing and then photographed during an ichthyological survey carried out in the Tehuacán-Cuicatlán Biosphere Reserve in the Xiquila River of the upper Papaloapan River basin. The live catfish showed a lack of pigment in the skin, white spots, and normal eye color. This information contributes to the knowledge about intraspecific variability and natural history of R. laticauda. We discuss the potential causes of this color anomaly.

15.
Orphanet J Rare Dis ; 18(1): 49, 2023 03 08.
Article de Anglais | MEDLINE | ID: mdl-36890577

RÉSUMÉ

BACKGROUND: Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort. METHODS: We conducted a national cross-sectional registry with retrospective clinical data of Brazilian patients with porphyria collected with Brazilian patients Association with Porphyria in collaboration with a tertiary care center for rare diseases. RESULTS: A cohort of 172 patients was analyzed in which 148 (86%) patients had the diagnosis of acute hepatic porphyria [AHP] that needed a mean of 62.04 medical visits and 9.6 years to achieve a definitive diagnosis. About AHP cohort, the most common first clinical manifestation were abdominal pain in 77 (52%) patients and acute muscle weakness in 23 (15.5%) with 73 (49.3%) patients presenting only one attack during disease course and 37 (25%) exhibiting 4 or more attacks in the last year. Of note, 105 patients with AHP reported chronic manifestations and the scores for quality of life are lower when compared with general healthy population. CONCLUSIONS: Brazilian patients with AHP had a higher prevalence of chronic disabling manifestations and a poor quality of life like other cohorts and a higher proportion of patients with recurrent attacks than previously reported.


Sujet(s)
Porphyrie aigüe intermittente , Porphyries , Humains , Études rétrospectives , Qualité de vie , Brésil/épidémiologie , Études transversales , Porphyries/génétique , Porphyries/complications , Porphyries/diagnostic , Porphyrie aigüe intermittente/génétique
16.
Neotrop Entomol ; 52(1): 81-91, 2023 Feb.
Article de Anglais | MEDLINE | ID: mdl-36401152

RÉSUMÉ

Entomological collections represent a key source of information about the biological heritage of a country. However, the taxonomy and knowledge of many arthropods from megadiverse countries are underrepresented in these natural history collections as is the case with several planthoppers of the suborder Auchenorrhyncha. Issidae are fulgoromorphs distributed worldwide, except the poles and Greenland. Despite this ubiquity, Colombian planthoppers remain very poorly known and studied. Our objective was to provide the first consolidated records and distributional data for Colombian Issidae. We used reports of the representative genus Thionia deposited in biological collections in Colombia. In addition, we linked voucher specimen information and Olson's life zones showing an inter-Andean valley and Eastern Andean Cordillera distribution within Colombia. Our survey of Colombian biological collections revealed 55 individuals of the genus Thionia Stål, 1859 (53 adults, 2 immatures [nymphs]), which were collected by different methods; however, many of those records may be opportunistic. This genus (and its species) needs further study, with systematic and ecological revision, as is the case with other terrestrial Colombian hemipterans. Our consolidated records represent an advance to the knowledge of Issidae (and Thionia specifically) for the Neotropics and Colombia in particular, and a baseline for further study of distributional and biogeographic patterns of the suborder Auchenorrhyncha.


Sujet(s)
Hemiptera , Animaux , Colombie , Environnement , Enquêtes et questionnaires
17.
J Anim Ecol ; 92(2): 324-337, 2023 02.
Article de Anglais | MEDLINE | ID: mdl-36059124

RÉSUMÉ

Studying species interactions in nature often requires elaborated logistics and intense fieldwork. The difficulties in such task might hinder our ability to answer questions on how biotic interactions change with the environment. Fortunately, a workaround to this problem lies within scientific collections. For some animals, the inspection of preserved specimens can reveal the scars of past antagonistic encounters, such as predation attempts. A common defensive behaviour that leaves scars on animals is autotomy, the loss of a body appendage to escape predation. By knowing the collection site of preserved specimens, it is possible to assess the influence of organismal biology and the surrounding environment in the occurrence of autotomy. We gathered data on tail loss for 8189 preserved specimens of 33 snake and 11 amphisbaenian species to investigate biological and environmental correlates of autotomy in reptiles. We applied generalized linear mixed effect models to evaluate whether body size, sex, life-stage, habitat use, activity pattern, biome, tropicality, temperature and precipitation affect the probability of tail loss in limbless reptiles. We observed autotomy in 23.6% of examined specimens, with 18.7% of amphisbaenian and 33.4% of snake specimens showing tail loss. The probability of tail loss did not differ between snakes and amphisbaenians, but it was higher among large-sized specimens, particularly in adults and females. Chance of tail loss was higher for diurnal and arboreal species, and among specimens collected in warmer regions, but it was unaffected by biome, precipitation, and tropicality. Autotomy in limbless reptiles was affected by size-dependent factors that interplay with ontogeny and sexual dimorphism, although size-independent effects of life-stage and sex also shaped behavioural responses to predators. The increase in probability of tail loss with verticality and diurnality suggests a risk-balance mechanism between species habitat use and activity pattern. Although autotomy is more likely in warmer regions, it seems unrelated to seasonal differences in snakes and amphisbaenians activity. Our findings reveal several processes related to predator-prey interactions involving limbless reptiles, demonstrating the importance of scientific collections to unveil ecological mechanisms at different spatio-temporal scales.


Sujet(s)
Lézards , Femelle , Animaux , Lézards/physiologie , Queue/physiologie , Comportement prédateur , Cicatrice , Écosystème
18.
Hist. ciênc. saúde-Manguinhos ; Hist. ciênc. saúde-Manguinhos;30: e2023068, 2023. graf
Article de Portugais | LILACS | ID: biblio-1528661

RÉSUMÉ

Resumo Os gabinetes de curiosidades constituem a origem do museu moderno. Na utopia da Wunderkammer existe a aspiração à convivência entre arte e ciência. Como docente do novo Curso de Philosofia Natural da Universidade de Coimbra (1772), Portugal contratou o naturalista italiano Domingos Vandelli, que transportou consigo uma coleção, com objetos do seu gabinete em Pádua, à qual anexou uma outra coleção, recolhida em Portugal (1764-1768), repositório ainda não tributário do paradigma naturalista de Lineu. É com fundamento na descrição dessas duas coleções que defendemos a relevante proposta - para a ciência e para a museologia - do Gabinete de Curiosidades do Museu da Ciência da Universidade de Coimbra, inaugurado em maio de 2022.


Abstract Cabinets of curiosities are the origin of modern museums. The utopia these Wunderkammer contain also includes aspirations for art and science to coexist. The Italian naturalist Domingos Vandelli was contracted as an instructor for the new course in natural philosophy at the University of Coimbra (1772), and brought objects from his own cabinet in Padua; he combined these with another collection mounted in Portugal (1764-1768), which did not yet conform to Linneus's naturalistic paradigm. Based on descriptions of these two collections, we defend the important initiative underway at the Cabinet of Curiosities at the University of Coimbra's Museum of Science, which was inaugurated in May 2022.


Sujet(s)
Universités , Histoire naturelle , Collections comme sujet , Musées , Portugal , Histoire du 18ème siècle
19.
Acta Zool, in press, dez. 2023
Article de Anglais | Sec. Est. Saúde SP, SESSP-IBPROD, Sec. Est. Saúde SP | ID: bud-5242

RÉSUMÉ

Capturing data on the life of fossorial vertebrates is difficult since access to the subterranean environment is made unfeasible by its density and opacity. Collecting specimens is only possible through excavation work, causing damage or even death to the specimens. Due to the obstacles of in situ studies, the scarce information comes from reports obtained indirectly, mainly through specimens preserved in museums. Considering the adaptations to fossoriality, investments in studying these groups could be very enlightening since they would contribute enormously to the knowledge of the evolutionary strategies developed throughout the colonisation of the subterranean world. Amphisbaena alba is the species of Amphisbaenia with the broadest geographic distribution in the world. It occupies virtually all countries in South America except for Chile and southern Argentina. This study, carried out over the last 36 years, aims to provide data on the biology and behaviour of A. alba in captivity and in the field. Our main objective is to provide subsidies to expand the knowledge of the life history of this species and, by extension, of amphisbaenians in general.

20.
São Paulo; 2023. 34 p.
Thèse de Portugais | Sec. Est. Saúde SP, SESSP-IBPROD, Sec. Est. Saúde SP | ID: bud-5029

RÉSUMÉ

Mimicry is a topic widely studied since the last century, firstly mentioned by the naturalists Henry Walter Bates and Alfred Russel Wallace, the studies were mainly about insects. Currently, mimicry research comprises both vertebrate and invertebrate. But there are few that mention a possible mimicry complex between snakes and invertebrates. This work aims to realize a bibliography review about possible mimicry complexes that comprises both snakes and invertebrates, comment about these researches and correlate with distribution data. The surveys were made using digital magazines and libraries, as well as databases for geographic distribution references. Nine publications were found that suggest possible evidence for a mimicry complex between species of invertebrates with snakes. However, there are not, at the present moment, works that indicate datation or origin of the groups here presented so that we can infer who is the mimic and who is the model. Therefore, the conclusions were that more research is necessary, mainly focused to datation analysis.


O Mimetismo é um tema amplamente estudado desde o século passado, iniciado pelos pesquisadores naturalistas Henry Walter Bates e Alfred Russel Wallace, onde os estudos foram principalmente sobre insetos. Atualmente os estudos de mimetismo englobam tanto vertebrados quanto invertebrados, mas são poucos trabalhos que mencionam um possível complexo mimético entre serpentes e invertebrados. Este trabalho objetiva realizar um levantamento bibliográfico acerca de possíveis complexos miméticos que englobam serpentes e invertebrados, discorrer sobre essas pesquisas e relacioná-los com dados de distribuição geográfica. O levantamento foi feito através de pesquisas em bibliotecas e revistas digitais, bem como bancos de dados de espécies para referências de distribuição geográfica. Foram achados no total nove publicações que apontam possíveis evidências para um possível complexo mimético entre espécies de invertebrados com serpentes. No entanto, não existem, até o momento, trabalhos que indiquem a datação ou origem dos grupos aqui apresentados para que possamos inferir quem seria o mímico e quem seria o modelo. Sendo assim, as conclusões do trabalho foram de que são necessárias mais pesquisas, sobretudo voltadas para as análises de datação.

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