Corrigendum: Case report: Unveiling a less severe congenital nephrotic syndrome in a Rapa Nui patient with a NPHS1 Maori founder variant.

[This corrects the article DOI: 10.3389/fneph.2024.1379061.].

Identification of the first nursery area of the Galápagos shark (Carcharhinus galapagensis) in the south-east Pacific Ocean.

The identification of important areas (i.e., nursery grounds) is essential for the conservation of most shark species. To assess whether Salas y Gómez Island serves as a nursery area for the Galápagos shark Carcharhinus galapagensis, we conducted a thorough literature review. Multiple lines of evidence show that young-of-the-year (YOY);  inhabiting the remote Salas y Gómez Island (1) present a higher density around Salas y Gómez Island than the surrounding deeper oceanic waters and in the south-eastern Pacific, (2) potentially display high fidelity to this area, and (3) demonstrate the repeated use of this area over multiple years. We also discuss the significance of this isolated island for the Galápagos shark population and propose specific research, management, and conservation actions for its preservation.

Case report: Unveiling a less severe congenital nephrotic syndrome in a Rapa Nui patient with a NPHS1 Maori founder variant.

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.

Daily accumulation rates of floating debris and attached biota on continental and oceanic island shores in the SE Pacific: testing predictions based on global models.

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.

Human Settlement and Landscape Anthropization of Remote Oceanic Islands: A Comparison between Rapa Nui (Pacific Ocean) and the Azores (Atlantic Ocean).

The flora and vegetation of oceanic islands have been deeply affected by human settlement and further landscape modifications during prehistoric and historical times. The study of these transformations is of interest not only for understanding how current island biotas and ecological communities have been shaped but also for informing biodiversity and ecosystem conservation. This paper compares two oceanic insular entities of disparate geographical, environmental, biological, historical and cultural characteristics-Rapa Nui (Pacific Ocean) and the Azores Islands (Atlantic Ocean)-in terms of human settlement and further landscape anthropization. The similarities and differences between these islands/archipelagos are discussed considering their permanent colonization, the possibility of earlier settlements, the removal of the original forests and the further landscape transformations leading to either full floristic/vegetational degradation (Rapa Nui) or major replacement (Azores). This comparison uses evidence from varied disciplines, notably paleoecology, archaeology, anthropology and history, to obtain a holistic view of the development of the respective socioecological systems from a human ecodynamic perspective. The most relevant issues still to be resolved are identified and some prospects for future research are suggested. The cases of Rapa Nui and Azores Islands may help set a conceptual basis for ocean-wide global comparisons among oceanic islands/archipelagos.

Genetics, Morphometrics and Health Characterization of Green Turtle Foraging Grounds in Mainland and Insular Chile.

Two divergent genetic lineages have been described for the endangered green turtle in the Pacific Ocean, occurring sympatrically in some foraging grounds. Chile has seven known green turtle foraging grounds, hosting mainly juveniles of different lineages. Unfortunately, anthropic factors have led to the decline or disappearance of most foraging aggregations. We investigated age-class/sex structure, morphological variation, genetic diversity and structure, and health status of turtles from two mainland (Bahia Salado and Playa Chinchorro) and one insular (Easter Island) Chilean foraging grounds. Bahia Salado is composed of juveniles, and with Playa Chinchorro, exclusively harbors individuals of the north-central/eastern Pacific lineage, with Galapagos as the major genetic contributor. Conversely, Easter Island hosts juveniles and adults from both the eastern Pacific and French Polynesia. Morphological variation was found between lineages and foraging grounds, suggesting an underlying genetic component but also an environmental influence. Turtles from Easter Island, unlike Bahia Salado, exhibited injuries/alterations probably related to anthropic threats. Our findings point to establishing legal protection for mainland Chile's foraging grounds, and to ensure that the administrative plan for Easter Island's marine protected area maintains ecosystem health, turtle population viability, and related cultural and touristic activities.

Novel Low Pathogenic Avian Influenza H6N1 in Backyard Chicken in Easter Island (Rapa Nui), Chilean Polynesia.

Little is known about the prevalence of avian influenza viruses (AIV) in wildlife and domestic animals in Polynesia. Here, we present the results of active AIV surveillance performed during two sampling seasons in 2019 on Easter Island (Rapa Nui). Tracheal and cloacal swabs as well as sera samples were obtained from domestic backyard poultry, while fresh faeces were collected from wild birds. In addition to detecting antibodies against AIV in 46% of the domestic chickens in backyard production systems tested, we isolated a novel low pathogenic H6N1 virus from a chicken. Phylogenetic analysis of all genetic segments revealed that the virus was closely related to AIV's circulating in South America. Our analysis showed different geographical origins of the genetic segments, with the PA, HA, NA, NP, and MP gene segments coming from central Chile and the PB2, PB1, and NS being closely related to viruses isolated in Argentina. While the route of introduction can only be speculated, our analysis shows the persistence and independent evolution of this strain in the island since its putative introduction between 2015 and 2016. The results of this research are the first evidence of AIV circulation in domestic birds on a Polynesian island and increase our understanding of AIV ecology in region, warranting further surveillance on Rapa Nui and beyond.

Complete mitochondrial genomes of two species of Stichopathes Brook, 1889 (Hexacorallia: Antipatharia: Antipathidae) from Rapa Nui (Easter Island).

We report the complete mitochondrial genomes of two antipatharian species, Stichopathes sp. SCBUCN-8849 and Stichopathes sp. SCBUCN-8850, collected between 120 and 180 m depth off Rapa Nui (∼ -27.1°, -109.4°). The size of the two mitogenomes are 20,389 bp (29.0% A, 15.2% C, 19.9% G, and 35.9% T) and 20,463 bp (29.0% A, 15.3% C, 19.9% G, and 35.8% T), respectively. Both mitogenomes have the classic Hexacorallia gene content of 13 protein-coding, two rRNA, and two tRNA genes plus a COX1 intron with embedded HEG as found in the Antipathidae and other antipatharian families.

A new threat to local marine biodiversity: filamentous mats proliferating at mesophotic depths off Rapa Nui.

Mesophotic and deeper habitats (∼40 to 350 m in depth) around Rapa Nui (Easter Island) were investigated using a remotely operated vehicle. We observed extensive fields of filamentous cyanobacteria-like mats covering sandy substrates and mostly dead mesophotic Leptoseris spp. reefs. These mats covered up to 100% of the seafloor off Hanga Roa, the main village on the island, located on its western side. The highest mortality of corals was observed at depths between 70 and 95 m in this area. Healthy Leptoseris reefs were documented off the northern and southeastern sides of the island, which are also the least populated. A preliminary morphologic analysis of samples of the mats indicated that the assemblage is composed of at least four filamentous taxa, including two cyanobacteria (cf. Lyngbya sp. and Pseudoanabaena sp.), a brown alga (Ectocarpus sp.), and a green alga (Cladophora sp.). An ongoing eutrophication process is suggested as a potential driver of the proliferation of these filamentous mats off Hanga Roa village.

Detección de " Candidatus Rickettsia andeanae" en Rhipicephalus sanguineus sensu stricto (Acari: Ixodidae) en Rapa Nui-Isla de Pascua / Detection of " Candidatus Rickettsia andeanae" in Rhipicephalus sanguineus sensu stricto (Acari: Ixodidae) from Rapa Nui-Easter Island

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.

Three new Luticola D.G.Mann (Bacillariophyta) species from Rapa Nui (Easter Island) found in terrestrial diatom assemblages dominated by widely distributed taxa.

BACKGROUND: Rapa Nui (Easter Island = Isla de Pasqua) is of volcanic origin, best known for about 900 man-made stone statues known as moai. It is one of the most isolated inhabited islands on Earth and studies on the diatoms of Rapa Nui are very few. METHODS: Light (LM) and electron microscopic (SEM) observations of a single sample collected from Rapa Nui are presented. The samples (mix of soil and organic detritus) were collected from ground of cave entrance. RESULTS: The samples were characterized by low diatom diversity and strongly dominated by terrestrial (soil) forms. Among the taxa present in the material studied were cosmopolitan forms of the genera Humidophila, Nitzschia, Angusticopula, Orthoseira, Tryblionella and Luticola. Whereas most of taxa of the enumerated genera were identifiable, only one among four Luticola species distinguished in the samples studied was identified. This taxon was L. ectorii, a cosmopolitan species known previously from South America (Brazil) and Asia (China). The three remaining species could not be assigned to any established species. Therefore, based on external and internal morphological features from light and scanning electron microscopic analysis, we describe here three species new to science, including: L. georgzizkae, L. rapanuiensis and L. moaiorum. All three taxa new to science are compared to established Luticola species and their significance for the global distribution of the genus is discussed.

Generation of Chloroplast Molecular Markers to Differentiate Sophora toromiro and Its Hybrids as a First Approach to Its Reintroduction in Rapa Nui (Easter Island).

Sophora toromiro is an endemic tree of Rapa Nui with religious and cultural relevance that despite being extinct in the wild, still persists in botanical gardens and private collections around the world. The authenticity of some toromiro trees has been questioned because the similarities among hybrid lines leads to misclassification of the species. The conservation program of toromiro has the objective of its reinsertion into Rapa Nui, but it requires the exact genotyping and certification of the selected plants in order to efficiently reintroduce the species. In this study, we present for the first time the complete chloroplast genome of S. toromiro and four other Sophora specimens, which were sequenced de-novo and assembled after mapping the raw reads to a chloroplast database. The length of the chloroplast genomes ranges from 154,239 to 154,473 bp. A total of 130-143 simple sequence repeats (SSR) loci and 577 single nucleotide polymorphisms (SNPs) were identified.

Effect of predation risk and ectoparasitic louse flies on physiological stress condition of the red-tailed tropicbird (Phaethon rubricauda) from Rapa Nui and Salas & Gómez islands.

BACKGROUND: Introduced predators at seabird colonies and parasites may have lethal and/or sub-lethal consequences for bird populations. We assessed the potential sub-lethal negative effects of these stressors in a native seabird listed as vulnerable in its south-eastern pacific distribution. This study was conducted in two red-tailed tropicbird (Phaethon rubricauda) colonies, one located in Rapa Nui Island, which is threatened by the presence of introduced predators, and the other located in Salas & Gómez Island, which has no introduced predators, but birds are infested by ectoparasitic louse flies. METHODS: The effects on physiological stress traits of both, predation risk on different nest types (protected and exposed) on Rapa Nui, and different levels of louse flies' parasitic loads on Salas & Gómez were studied. Three variables were analyzed: the heterophil/lymphocyte (H/L) ratio, the transcriptional levels of mRNA HSP70 in blood, and the body condition. These stress indicators and leukocyte counts were compared between colonies. RESULTS: No significant differences were found in any stress indicator between different nest types within Rapa Nui, showing that the effect of predator's presence was the same for adults nesting in both, protected and exposed nests. No significant correlation was found between louse flies' parasitic loads and any stress indicators in the birds of Salas & Gómez. Also, there was no difference in any stress indicator between islands. However, a significant opposite trend between islands was found in the eosinophil, lymphocyte, and monocyte counts when related to body condition. CONCLUSIONS: We found a lack of significant differentiation in all the stress level indicators assessed within and between islands. The presence of louse flies in Salas & Gómez vs. the absence of this parasite at Rapa Nui may be the cause for the significant difference in the trend of eosinophil, lymphocyte and monocyte counts between the islands. However, further studies are necessary to elucidate the reason for this difference and to better investigate the lethal effects of introduced predators on the Rapa Nui colony to evaluate appropriate conservation measures for this native seabird.

Genetics of Mexico Jamiltepec Oaxaca Mixtec Amerindians according to HLA genes.

Mexican Mixtec population from coastal Jamiltepec (Oaxaca) Amerindians was studied for its HLA profile. They show genetic characteristics close to Pacific Islanders and other Mexican Isthmus Amerindians (Mazatecans, Zapotecans and Mayas). Interestingly, this coastal Oaxaca Mixtec population is genetically closer to Mazatecans than to Oaxaca Mixtec from mountains according to HLA genes. Mixtec HLA frequent extended haplotype A*24:02-B*35:14-DRB1*16:02 has been also found in Jaidukama North Colombia forest Amerindians and in Guatemala Mayas; A*24:02, DRB1*04:03, DRB1*04:04 and DRB2*16:02 are frequent alleles also common to Pacific Inhabitants. Notwithstanding, Mixtecs show deep cultural and genetic roots with Mesoamerican Amerindians and all of them probably contributed to construct Monte Alban culture around an important Pyramid Complex close to Oaxaca City.

HLA study in Bolivian Quechua Amerindians from Titikaka Lake Area.

Quechua Amerindians established Inca Empire and chose Cuzco as their capital. Their language is closely related to that of Aymara ethnic group and both of them were originated from Titikaka Lake Altiplano area. In the present study we have analyzed Bolivian Quechua HLA profile and found that it has common characters with other Andean and Pacific Amerindians (Uros, Aymaras, Lamas, Mapuches, Athabascan), and Pacific Islanders, including Easter Islanders: relatively high frequency of HLA-A*24 (:02), class II haplotypes DRB1*08:02-DQB1*04:02, and DRB1*04:03-DQB1* 03:02. Titikaka Lake area prehistoric populations: Quechua, Aymaras and Uros are closely related according to HLA Nei DA genetic distances and other HLA traits: they built up Tiwanaku culture, which resembles that of Easter Island (i.e.: similar giant heads); later, Quechuas also moved to Cuzco. This genetic reletedness together with Easter Island and Titikaka Lake Tiwanaku (Bolivia, Peru) cultural common similarities support a prehistoric Pacific people/Amerindians gene flow.

Coping with Pleistocene climatic fluctuations: Demographic responses in remote endemic reef fishes.

Elucidating demographic history during the settlement of ecological communities is crucial for properly inferring the mechanisms that shape patterns of species diversity and their persistence through time. Here, we used genomic data and coalescent-based approaches to elucidate for the first time the demographic dynamics associated with the settlement by endemic reef fish fauna of one of the most remote peripheral islands of the Pacific Ocean, Rapa Nui (Easter Island). We compared the demographic history of nine endemic species in order to explore their demographic responses to Pleistocene climatic fluctuations. We found that species endemic to Rapa Nui share a common demographic history, as signatures of population expansions were retrieved for almost all of the species studied here, and synchronous demographic expansions initiated during the last glacial period were recovered for more than half of the studied species. These results suggest that eustatic fluctuations associated with Milankovitch cycles have played a central role in species demographic histories and in the final stage of the community assembly of many Rapa Nui reef fishes. Specifically, sea level lowstands resulted in the maximum reef habitat extension for Rapa Nui endemic species; we discuss the potential role of seamounts in allowing endemic species to cope with Pleistocene climatic fluctuations, and we highlight the importance of local historical processes over regional ones. Overall, our results shed light on the mechanisms by which endemism arises and is maintained in peripheral reef fish fauna.

Different Secondary Metabolite Profiles of Phylogenetically almost Identical Streptomyces griseus Strains Originating from Geographically Remote Locations.

As Streptomyces have shown an outstanding capacity for drug production, different campaigns in geographically distant locations currently aim to isolate new antibiotic producers. However, many of these newly isolated Streptomyces strains are classified as identical to already described species. Nevertheless, as discrepancies in terms of secondary metabolites and morphology are possible, we compared two Streptomyces strains with identical 16S rRNA gene sequences but geographically distant origins. Chosen were an Easter Island Streptomyces isolate (Streptomyces sp. SN25_8.1) and the next related type strain, which is Streptomyces griseus subsp. griseus DSM 40236T isolated from Russian garden soil. Compared traits included phylogenetic relatedness based on 16S rRNA gene sequences, macro and microscopic morphology, antibiotic activity and secondary metabolite profiles. Both Streptomyces strains shared several common features, such as morphology and core secondary metabolite production. They revealed differences in pigmentation and in the production of accessory secondary metabolites which appear to be strain-specific. In conclusion, despite identical 16S rRNA classification Streptomyces strains can present different secondary metabolite profiles and may well be valuable for consideration in processes for drug discovery.

First sighting of a tropical benthic reef shark species at Rapa Nui: chance dispersal or a sign of things to come?

On 20 December 2017, a mature Triaenodon obesus was observed at Hanga Roa Bay, Rapa Nui (Easter Island) at c.18 m depth. This observation increases both the range of T. obesus in the Pacific Ocean and the number of elasmobranch species at Rapa Nui. In combination with other recent sightings further extending the southern range of this species during the Austral summer, sea surface temperature is suggested as key to southern dispersal.

Antitumor Anthraquinones from an Easter Island Sea Anemone: Animal or Bacterial Origin?

The presence of two known anthraquinones, Lupinacidin A and Galvaquinone B, which have antitumor activity, has been identified in the sea anemone (Gyractis sesere) from Easter Island. So far, these anthraquinones have been characterized from terrestrial and marine Actinobacteria only. In order to identify the anthraquinones producer, we isolated Actinobacteria associated with the sea anemone and obtained representatives of seven actinobacterial genera. Studies of cultures of these bacteria by HPLC, NMR, and HRLCMS analyses showed that the producer of Lupinacidin A and Galvaquinone B indeed was one of the isolated Actinobacteria. The producer strain, SN26_14.1, was identified as a representative of the genus Verrucosispora. Genome analysis supported the biosynthetic potential to the production of these compounds by this strain. This study adds Verrucosispora as a new genus to the anthraquinone producers, in addition to well-known species of Streptomyces and Micromonospora. By a cultivation-based approach, the responsibility of symbionts of a marine invertebrate for the production of complex natural products found within the animal's extracts could be demonstrated. This finding re-opens the debate about the producers of secondary metabolites in sea animals. Finally, it provides valuable information about the chemistry of bacteria harbored in the geographically-isolated and almost unstudied, Easter Island.