Biallelic structural variations within detected by long-read sequencing in epilepsy.

We discovered biallelic intragenic structural variations (SVs) in by applying long-read whole genome sequencing to an exome-negative patient with developmental and epileptic encephalopathy (DEE). We also found another DEE patient carrying a biallelic (homozygous) single-nucleotide variant (SNV) in that was detected by exome sequencing. heterozygous recurrent missense variants with gain-of-function or heterozygous entire duplication of are known causes of epilepsy, but biallelic SNVs/SVs have never been described.

Biochemical and Nutritional Characterization of Edible Seaweeds from the Peruvian Coast.

In Peru, the number of species of edible seaweeds within the genera , (hereafter ), (hereafter ), and has not been fully established, nor is there a significant level of information available related to their chemical and nutritional composition. This study involved the biochemical analysis of species belonging to ten genera of macroalgae, known edible and some of which have the potential to be used as food, including six red (, , , and ), two green ( and ), and two brown ( and ) species collected along the Peruvian coast (6°-17° S). In the evaluation of 37 specimens, differences were found in the proximal composition, amino acid composition, and fatty acid profiles, which were specific to subgroups and supported their taxonomic classification, mainly at the order level.

Genomic analysis of a reef-building coral, Acropora digitifera, reveals complex population structure and a migration network in the Nansei Islands, Japan.

Understanding the structure and connectivity of coral populations is fundamental for developing marine conservation policies, especially in patchy environments such as archipelagos. The Nansei Islands, extending more than 1000 km in southwestern Japan, are characterized by high levels of biodiversity and endemism, supported by coral reefs, which make this region ideal for assessing genetic attributes of coral populations. In this study, we conducted population genomic analyses based on genome-wide, single-nucleotide polymorphisms (SNPs) of Acropora digitifera, a common species in the Nansei Islands.

Pre-domestication bottlenecks of the cultivated seaweed Gracilaria chilensis.

Gracilaria chilensis is the main cultivated seaweed in Chile. The low genetic diversity observed in the Chilean populations has been associated with the over-exploitation of natural beds and/or the founder effect that occurred during post-glacial colonization from New Zealand. How these processes have affected its evolutionary trajectory before farming and incipient domestication is poorly understood.

Information theory approaches to improve glioma diagnostic workflows in surgical neuropathology.

Aims: Resource-strained healthcare ecosystems often struggle with the adoption of the World Health Organization (WHO) recommendations for the classification of central nervous system (CNS) tumors. The generation of robust clinical diagnostic aids and the advancement of simple solutions to inform investment strategies in surgical neuropathology would improve patient care in these settings.

Methods: We used simple information theory calculations on a brain cancer simulation model and real-world data sets to compare contributions of clinical, histologic, immunohistochemical, and molecular information.

First Report of Domoic Acid Production from in Paracas Bay (Peru).

The Peruvian sea is one of the most productive ecosystems in the world. Phytoplankton production provides food for fish, mammals, mollusks and birds. This trophic network is affected by the presence of toxic phytoplankton species.

Pituicytoma Associated with Acromegaly and Cushing Disease.

Background: Pituicytoma is a rare neoplasm arising in the sellar region (World Health Organization grade I). Clinically, pituicytomas mimic nonfunctioning pituitary macroadenomas and are occasionally incidentally discovered at autopsy. Pituitary adenomas can occur with other sellar pathologies, and the term "collision sellar lesions" has been coined for this rare entity.

Petroclival intravascular papillary endothelial hyperplasia with psammoma body-like structures.

Masson's tumor or intravascular papillary endothelial hyperplasia (IPEH) is considered a non-neoplastic lesion. It is probably an unusual exaggerated reorganization of a thrombus. IPEH may be present as a secondary lesion in hemangiomas.

Analysis of the complete organellar genomes of the economically valuable kelp (Lessoniaceae, Phaeophyceae) from Chile.

(Suhr) Santelices is the most ecologically and economically important kelp from Pacific South America. Here, we contribute to the bioinformatics and evolutionary systematics of the species by performing high throughput sequencing on from Valparaiso, Chile. The complete mitogenome is 37,097 base pairs (bp) in length and contains 66 genes (GenBank accession MK965907), the complete plastid genome is 130,305 bp and has 173 genes (accession MK965908), and the data assembled 7,630 bp of the nuclear ribosomal cistron (accession MK965909).

A siphonous macroalgal genome suggests convergent functions of homeobox genes in algae and land plants.

Genome evolution and development of unicellular, multinucleate macroalgae (siphonous algae) are poorly known, although various multicellular organisms have been studied extensively. To understand macroalgal developmental evolution, we assembled the ∼26 Mb genome of a siphonous green alga, Caulerpa lentillifera, with high contiguity, containing 9,311 protein-coding genes. Molecular phylogeny using 107 nuclear genes indicates that the diversification of the class Ulvophyceae, including C.

JunB regulates homeostasis and suppressive functions of effector regulatory T cells.

Foxp3-expressing CD4 regulatory T (Treg) cells need to differentiate into effector Treg (eTreg) cells to maintain immune homeostasis. T-cell receptor (TCR)-dependent induction of the transcription factor IRF4 is essential for eTreg differentiation, but how IRF4 activity is regulated in Treg cells is still unclear. Here we show that the AP-1 transcription factor, JunB, is expressed in eTreg cells and promotes an IRF4-dependent transcription program.

Clinical and imaging features distinguishing Susac syndrome from primary angiitis of the central nervous system.

Introduction: To assess clinical and/or imaging features useful to distinguish between Susac syndrome (SuS) and primary angiitis of central nervous system (PACNS).

Methods: Multicenter retrospective analysis of two cohorts of Argentine patients diagnosed with SuS and PACNS.

Results: 13 patients diagnosed with SuS (6 women and 7 men, mean age 35 ± 10 years) and 15 with PACNS (10 women and 5 men, mean age 44 ± 18 years) were analyzed.

Two divergent Symbiodinium genomes reveal conservation of a gene cluster for sunscreen biosynthesis and recently lost genes.

Background: The marine dinoflagellate, Symbiodinium, is a well-known photosynthetic partner for coral and other diverse, non-photosynthetic hosts in subtropical and tropical shallows, where it comprises an essential component of marine ecosystems. Using molecular phylogenetics, the genus Symbiodinium has been classified into nine major clades, A-I, and one of the reported differences among phenotypes is their capacity to synthesize mycosporine-like amino acids (MAAs), which absorb UV radiation. However, the genetic basis for this difference in synthetic capacity is unknown.

Erdheim-Chester disease: atypical presentation of a rare disease.

We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia.

JunB is essential for IL-23-dependent pathogenicity of Th17 cells.

CD4 T-helper cells producing interleukin-17 (IL-17), known as T-helper 17 (T17) cells, comprise heterogeneous subsets that exhibit distinct pathogenicity. Although pathogenic and non-pathogenic T17 subsets share a common RORγt-dependent T17 transcriptional programme, transcriptional regulatory mechanisms specific to each of these subsets are mostly unknown. Here we show that the AP-1 transcription factor JunB is critical for T17 pathogenicity.

A draft genome of the brown alga, Cladosiphon okamuranus, S-strain: a platform for future studies of 'mozuku' biology.

The brown alga, Cladosiphon okamuranus (Okinawa mozuku), is economically one of the most important edible seaweeds, and is cultivated for market primarily in Okinawa, Japan. C. okamuranus constitutes a significant source of fucoidan, which has various physiological and biological activities.

[Injury by skull osteolytic secundary syphilis].

Bone involvement of syphilis can be observed in tertiary and congenital syphilis. It is infrequent during the secondary stage. The skull is the most affected bone in secondary syphilis, and its most frequent form of presentation is proliferative osteitis.

Male white grub beetles prefer the pheromone composition of young females in the field.

Females of the white grub beetle, Dasylepida ishigakiensis, release both (R)- and (S)-2-butanol as sex pheromones, but the males are only attracted to (R)-2-butanol. In laboratory-reared females, the proportion of the (R)-isomer decreased significantly as their calling opportunities increased and as they aged. We examined whether such qualitative changes also occur in field populations.

Genome-wide SNP analysis explains coral diversity and recovery in the Ryukyu Archipelago.

Following a global coral bleaching event in 1998, Acropora corals surrounding most of Okinawa island (OI) were devastated, although they are now gradually recovering. In contrast, the Kerama Islands (KIs) only 30 km west of OI, have continuously hosted a great variety of healthy corals. Taking advantage of the decoded Acropora digitifera genome and using genome-wide SNP analyses, we clarified Acropora population structure in the southern Ryukyu Archipelago (sRA).

Contribution of extracellular ATP on the cell-surface F1F0-ATP synthase-mediated intracellular triacylglycerol accumulation.

Cell-surface F1F0-ATP synthase was involved in the cell signaling mediating various biological functions. Recently, we found that cell-surface F1F0-ATP synthase plays a role on intracellular triacylglycerol accumulation in adipocytes, and yet, the underlying mechanisms remained largely unknown. In this study, we investigated the role of extracellular ATP on the intracellular triacylglycerol accumulation.

Specific Preferences in Lineage Choice and Phenotypic Plasticity of Glioma Stem Cells Under BMP4 and Noggin Influence.

Although BMP4-induced differentiation of glioma stem cells (GSCs) is well recognized, details of the cellular responses triggered by this morphogen are still poorly defined. In this study, we established several GSC-enriched cell lines (GSC-ECLs) from high-grade gliomas. The expansion of these cells as adherent monolayers, and not as floating neurospheres, enabled a thorough study of the phenotypic changes that occurred during their differentiation.