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2.
Front Nephrol ; 4: 1379061, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38808020

RESUMO

Background: Congenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by edema, massive proteinuria, and hypoalbuminemia that manifests in utero or within three months after birth. CNS affects 1-3 per 100,000 children, primarily associated with genetic variants and occasionally with infections. Genetic analysis is the first-line method for diagnosis. The most common founder variants have been identified in European populations, often resulting in end-stage kidney disease by 1-2 years of age. Case-diagnosis/treatment: A female full-term neonate, without prenatal signs of kidney disease, was admitted to Rapa Nui (Eastern Island) Hospital at the age of 2 months due to bronchial obstruction. She presented fever, oliguria, edema, urine protein-to-creatinine ratio (UPCR) 433.33, and hypoalbuminemia (0.9 g/dL). She was transferred to a mainland Chilean hospital following CNS diagnosis. Viral screening detected cytomegalovirus (CMV) positivity in both blood and urine. A kidney biopsy revealed interstitial nephritis and diffuse podocyte damage and the tissue PCR resulted negative for CMV. Interviews with the parents revealed consanguinity, suggestive of hereditary CNS. Genetic analysis identified the Maori founder variant, NPHS1 c.2131C>A (p.R711S), in homozygosis. The patient received albumin infusions and antiviral therapy, being discharged when she was 5 months old, with improved laboratory parameters evidenced by UPCR 28.55, albumin 2.5 g/dL, and cholesterol 190 mg/dL. Subsequent clinical monitoring was conducted through virtual and in-person consultations. At her last follow-up at 4 years 2 months old, she presented UPCR 16.1, albumin 3.3 g/dl and cholesterol 220 mg/dL, maintaining normal kidney function and adequate growth. Conclusions: To our knowledge, this represents the first case of CNS in Chile carrying a NPHS1 variant associated with prolonged kidney survival. As described in the Maori population, the patient exhibited a less severe clinical course compared to classical NPHS1 patients. Genetic testing for the Maori founder variant in CNS patients related to the New Zealand population, could impact management decisions and potentially prevent the need for nephrectomies.

3.
PeerJ ; 11: e15550, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37525658

RESUMO

Background: Long-distance rafting on anthropogenic marine debris (AMD) is thought to have a significant impact on global marine biogeography and the dispersal of non-indigenous species. Therefore, early identification of arrival sites of AMD and its epibionts is crucial for the prioritization of preventive measures. As accumulation patterns along global coastlines are largely unstudied, we tested if existing oceanographic models and knowledge about upstream sources of litter and epibionts can be used as a simple and cost-efficient approach for predicting probable arrival sites of AMD-rafting biota in coastal zones. Methods: Using the Southeast Pacific as a model system, we studied daily accumulation rates, composition, and minimum floating times of AMD with and without epibionts on seven sandy beaches, covering the oceanic environment (Rapa Nui/Easter Island) and three regions (south, centre, north) along the Chilean continental coast, over a minimum of 10 consecutive days, and we contrast our results with predictions from published models. Results: Total AMD accumulation rates varied from 56 ± 36 (mean ± standard deviation) to 388 ± 433 items km-1 d-1 and differed strongly between regions, in accordance with local geomorphology and socioeconomic conditions (presence of larger cities and rivers upstream, main economic activities, etc.). Daily accumulation of items with pelagic epibionts (indicators of a pelagic trajectory) ranged from 46 ± 29 (Rapa Nui) to 0.0 items km-1 d-1 (northern continental region). Minimum floating times of rafts, as estimated from the size of pelagic epibionts, were longest in the South Pacific Subtropical Gyre's (SPSG) centre region, followed by the high-latitude continental region under the influence of the onshore West Wind Drift, and decreased along the continental alongshore upwelling current, towards lower latitudes. Apart from pelagic rafters, a wide range of benthic epibionts, including invasive and cryptogenic species, was found on rafts at the continental beaches. Similarly, we present another record of local benthic corals Pocillopora sp., on Rapa Nui rafts. Discussion: Our results agree with the predictions made by recent models based on the prevailing wind and surface current regimes, with high frequencies of long-distance rafting in the oceanic SPSG centre and very low frequencies along the continental coast. These findings confirm the suitability of such models in predicting arrival hotspots of AMD and rafting species. Moreover, storm surges as well as site-related factors seem to influence AMD arrival patterns along the Chilean continental coast and might cause the observed high variability between sampling sites and days. Our results highlight the possible importance of rafting as a vector of along-shore dispersal and range expansions along the SE Pacific continental coast and add to the discussion about its role in benthic species dispersal between South Pacific oceanic islands.


Assuntos
Antozoários , Monitoramento Ambiental , Animais , Monitoramento Ambiental/métodos , Plásticos , Oceanos e Mares , Biota , Polinésia
4.
Rev. chil. infectol ; Rev. chil. infectol;38(4): 548-554, ago. 2021. ilus
Artigo em Espanhol | LILACS | ID: biblio-1388270

RESUMO

INTRODUCCIÓN: Las rickettsiosis son enfermedades emergentes transmitidas por vectores artrópodos cuyos agentes etiológicos corresponden a bacterias patógenas del género Rickettsia y Orientia . Bacterias de este género han sido descritas en el norte y sur de Chile. OBJETIVO: Determinar presencia de Rickettsia spp. en garrapatas colectadas a partir de perros domésticos en Rapa Nui-Isla de Pascua, Región de Valparaíso. MÉTODOS: Fueron muestreados 20 perros callejeros durante octubre del año 2018. Se colectaron ocho garrapatas adultas desde siete animales (prevalencia: 35%); luego de su identificación taxonómica fueron sometidas a amplificación y secuenciación del gen ADNm 16S para garrapata y gltA (citrato sintetasa) para Rickettsia . RESULTADOS: Todos los ejemplares de garrapatas adultas correspondieron genéticamente a Rhipicephalus sanguineus sensu stricto lo cual fue confirmado mediante un análisis filogenético. En dos garrapatas (25%) se encontraron secuencias idénticas de gltA compatibles con " Candidatus Rickettsia andeanae", que formaron un clado monofilético con aislados obtenidos en Brasil, Chile y Perú. CONCLUSIÓN: Se documenta la presencia de " Ca. R. andeanae" s. s. en Rapa Nui-Isla de Pascua, asociado por primera vez a garrapatas del complejo R. sanguineus en Chile.


BACKGROUND: Rickettsioses are vector-borne emerging diseases caused by pathogenic bacteria of the genera Rickettsia and Orientia . Bacteria of these genera have been described in northern and southern Chile, respectively. AIM: To determine the presence of Rickettsia spp. in ticks collected from domestic dog in Rapa Nui-Easter Island, Valparaíso Region. METHODS: 20 stray dogs were sampled during October 2018. Overall, eight adult ticks were collected from seven animals (prevalence: 35%); after morphological identification, were submitted to DNA extraction and amplification and sequencing of the tick mitochondrial 16S DNA gene. The screening for Rickettsia was performed targeting the gltA (citrate synthetase) gene. RESULTS: A phylogenetic analysis confirmed the identity of the ticks as Rhipicephalus sanguineus sensu stricto. In two ticks (25%), we retrieved identical sequences of gltA compatible with " Candidatus Rickettsia andeanae", which formed a monophyletic group with conspecific isolates obtained in Brazil, Chile and Peru. CONCLUSION: This study proves the presence of " Ca . R. andeanae" in R. sanguineus s. s. at Rapa Nui-Easter Island, which also corresponds to the first report of this Rickettsia spp. in R. sanguineus complex for Chile.


Assuntos
Animais , Cães , Rickettsia/genética , Infecções por Rickettsia/veterinária , Rhipicephalus sanguineus/microbiologia , Doenças do Cão , Filogenia
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