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PurposeBetween 5 and 10% of cases of breast cancer (BC) are attributable to a genetic susceptibility. The BRCA1 and BRCA2 genes described in the late 1990s are associated with an increased risk of breast and ovarian cancer, and the clinical management of carriers of pathogenic variants in these genes is defined in several clinical guidelines (Paluch-Shimon et al. in Ann Oncol 27(suppl 5):v103–v110, 2016; Llort et al. in Clin Transl Oncol 17(12):956–961, 2015). However, the pathogenic variants in BRCA1 and BRCA2 represent only a third of the causes of hereditary BC (Easton et al. in N Engl J Med 372:2243–2257, 2015). The incorporation of NGS (Next Generation Sequencing) techniques in the genetic diagnosis of this pathology, in addition to minimising the cost and time of analysis, allows the simultaneous study of other genes of high and moderate penetrance (Easton et al. in N Engl J Med 372:2243–2257, 2015; Op. Cit.; Tung et al. in Cancer 121(1):25–33, 2015). To date, there are not many cases or series of patients that describe the co-occurrence of two pathogenic variants in these genes of BC. Cases of double heterozygosis have been described with the presence of pathogenic variants in BRCA1, BRCA2, PALB2, CHEK2, BLM or NBN (Nomizu et al. in Breast Cancer 22(5):557–61, 2015; Heidemann et al. in Breast Cancer Res Treat 134(3):1229–1239, 2012; Zuradelli et al. in Breast Cancer Res Treat 124(1):251–258, 2010; Sokolenko et al. in Breast Cancer Res Treat 145(2):553–562, 2014).MethodsWe report the case of a patient diagnosed with multiple tumours who presented two pathogenic variants in heterozygosis.ResultsTwo pathogenic variants, c.5123C > A (p.Ala1708Glu) in the BRCA1 gene and c.2413C > T (p.Arg805X) in the ATM gene were detected in heterozygosis. Said variants were confirmed by Sanger-type sequencing using specific primers.ConclusionsThe implementation of gene panels using NGS in the study of hereditary cancer involves the detection of heterozygous double mutations in genes of high and moderate penetrance for cancer, although with a low frequency.

We describe Acalypha brevipetiolata and A. bracteolata from Tanzania, and A. linearis from Angola, as species new to science. We provide illustrations, distribution maps, and preliminary conservation assessments. We discuss their significance in the context of both countries and within the framework of an ongoing taxonomic monograph of the genus in Africa. These are the first new Acalypha species described in Africa in nearly two decades, in Tanzania in five decades, and in Angola in over a century.

This work presents a critical nomenclatural review of the Acalypha species of the Western Indian Ocean Region (Madagascar, the Comoros Archipelago, the Mascarene Islands and the Seychelles Archipelago). This is the first treatment of Acalypha of Madagascar since Leandri’s monograph in 1942. A total of 151 scientific names related to Acalypha from this region are treated. We recognise 35 species (28 native and seven introduced), treat 93 names as synonyms (28 of them for the first time) and identify three as doubtful or excluded names. We designate lectotypes for 41 names, make two new combinations and propose one new name.

A critical review of the Ecuadorian species of Acalypha L. (Euphorbiaceae) is presented; 20 of the 38 previously recognized species are accepted, 9 are considered synonyms and 9 are based on misidentifications. Comprehensive nomenclatural information is supplied and 13 lectotypes are designated. An identification key is also provided.

Three remarkable new species of Acalypha (Euphorbiaceae, Acalyphoideae) from Madagascar are described and illustrated. Acalypha isaloensis, found in the Isalo Massif of southwestern Ihorombe region, is morphologically similar to A. gracilipes, but differs by its habit, indument, presence of domatia, and inflorescence sexuality. This is the first report of pocket-shaped domatia in the genus. Acalypha rabesahalana and A. tremula, found in Diana and Sava regions in the far north of Madagascar, superficially resemble A. menavody, but they do not strongly resemble any other species known from Madagascar nor from mainland Africa. Preliminary conservation assessments of the three new species are provided, and all are considered endangered or critically endangered, despite occurring in legally protected areas.

A critical review of the Argentinian, Uruguayan, and Paraguayan species of Acalypha L. (Euphorbiaceae) is presented. As a result, 18 species (22 taxa) are accepted, 16 from Argentina, 12 from Paraguay, and five from Uruguay, and 49 names are considered as synonyms. Typifications are provided for A. brasiliensis Müll. Arg., A. cordobensis Müll. Arg., A. friesii Pax & K. lagoensis Müll. Arg. var. grandifolia Chodat & Hassl., and A. striolata Lingelsh. Identification keys are also provided as are original illustrations of three species and distribution maps of all the accepted taxa.

Intravitreal injection is the gold standard therapeutic option for posterior segment pathologies, and long-lasting release is necessary to avoid reinjections. There is no effective intravitreal treatment for glaucoma or other optic neuropathies in daily practice, nor is there a non-invasive method to monitor drug levels in the vitreous. Here we show that a glaucoma treatment combining a hypotensive and neuroprotective intravitreal formulation (IF) of brimonidine–Laponite (BRI/LAP) can be monitored non-invasively using vitreoretinal interface imaging captured with optical coherence tomography (OCT) over 24 weeks of follow-up. Qualitative and quantitative characterisation was achieved by analysing the changes in vitreous (VIT) signal intensity, expressed as a ratio of retinal pigment epithelium (RPE) intensity. Vitreous hyperreflective aggregates mixed in the vitreous and tended to settle on the retinal surface. Relative intensity and aggregate size progressively decreased over 24 weeks in treated rat eyes as the BRI/LAP IF degraded. VIT/RPE relative intensity and total aggregate area correlated with brimonidine levels measured in the eye. The OCT-derived VIT/RPE relative intensity may be a useful and objective marker for non-invasive monitoring of BRI/LAP IF.

The application of the species names included in the previously invalidly published “Acalypha sect. Communes”, mostly around the widely cited A. communis, has been confusing almost since their publication. After a thorough study of the literature, from which we recorded 56 scientific names associated to this section, as well as the study of ca. 1500 herbarium specimens, including nomenclatural types, we propose a deep nomenclatural and taxonomic reorganization of this group. Acalypha sect. Communes is validly published and circumscribed to include five species: Acalypha communis, A. variabilis, A. vellamea, A. senilis and A. hassleriana. Regarding A. communis, we delimit its taxonomic status and propose five subspecies: A. communis subsp. communis, subsp. apicalis, subsp. paraguariensis, subsp. saltensis and subsp. tracheliifolia, four of them new combinations. Twenty–two lectotypes and three neotypes are designated, and 20 new synonyms are proposed. A key based on morphological characters to the species and subspecies of this section is also provided.

Two new species of Acalypha, A. neeana and A. machiensis, are described and illustrated based on Bolivian specimens. Comments on the systematics of related species are included. Se describen e ilustran dos nuevas especies de Acalypha, A. neeana y A. machiensis, basadas en ejemplares de Bolivia. Se aportan también comentarios sistemáticos sobre las especies afines.