Bioactive phytochemical constituents of wild edible mushrooms from Southeast Asia

Mushrooms have a long history of uses for their medicinal and nutritional properties. They have been consumed by people for thousands of years. Edible mushrooms are collected in the wild or cultivated worldwide. Recently, mushroom extracts and their secondary metabolites have acquired considerable attention due to their biological effects, which include antioxidant, antimicrobial, anti-cancer, anti-inflammatory, anti-obesity, and immunomodulatory activities. Thus, in addition to phytochemists, nutritionists and consumers are now deeply interested in the phytochemical constituents of mushrooms, which provide beneficial effects to humans in terms of health promotion and reduction of disease-related risks. In recent years, scientific reports on the nutritional, phytochemical and pharmacological properties of mushroom have been overwhelming. However, the bioactive compounds and biological properties of wild edible mushrooms growing in Southeast Asian countries have been rarely described. In this review, the bioactive compounds isolated from 25 selected wild edible mushrooms growing in Southeast Asia have been reviewed, together with their biological activities. Phytoconstituents with antioxidant and antimicrobial activities have been highlighted. Several evidences indicate that mushrooms are good sources for natural antioxidants and antimicrobial agent

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. Sequencing of EZH2 in additional individuals with overgrowth identified a further 15 mutations. The EZH2 mutation spectrum in Weaver syndrome shows considerable overlap with the inactivating somatic EZH2 mutations recently reported in myeloid malignancies. Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrain malformation called the molar tooth sign (MTS), making COACH a Joubert syndrome related disorder (JSRD). METHODS: In a cohort of 251 families with JSRD, 26 subjects in 23 families met criteria for COACH syndrome, defined as JSRD plus clinically apparent liver disease. Diagnostic criteria for JSRD were clinical findings (intellectual impairment, hypotonia, ataxia) plus supportive brain imaging findings (MTS or cerebellar vermis hypoplasia). MKS3/TMEM67 was sequenced in all subjects for whom DNA was available. In COACH subjects without MKS3 mutations, CC2D2A, RPGRIP1L and CEP290 were also sequenced. RESUlTS: 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease. Two other families with COACH carried CC2D2A mutations, one family carried RPGRIP1L mutations, and one lacked mutations in MKS3, CC2D2A, RPGRIP1L and CEP290. Liver biopsies from three subjects, each with mutations in one of the three genes, revealed changes within the congenital hepatic fibrosis/ductal plate malformation spectrum. In JSRD with and without liver disease, MKS3 mutations account for 21/232 families (9%). CONCLUSIONS: Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L

Notulae to the Italian flora of algae, bryophytes, fungi and lichens: 12

In this contribution, new data concerning bryophytes, fungi and lichens of the Italian flora are presented. It includes new records, confirmations or exclusions for the bryophyte genera Acaulon, Campylopus, En-tosthodon, Homomallium, Pseudohygrohypnum, and Thuidium, the fungal genera Entoloma, Cortinarius, Mycenella, Oxyporus, and Psathyrella and the lichen genera Anaptychia, Athallia, Baeomyces, Bagliettoa, Calicium, Nephroma, Pectenia, Phaeophyscia, Polyblastia, Protoparmeliopsis, Pyrenula, Ramalina, and San-guineodiscus

Vitalism in Early Modern Medical and Philosophical Thought

Vitalism is a notoriously deceptive term. It is very often defined as the view, in biology, in early modern medicine and differently, in early modern philosophy, that living beings differ from the rest of the physical universe due to their possessing an additional ‘life-force’, ‘vital principle’, ‘entelechy’, enormon or élan vital. Such definitions most often have an explicit pejorative dimension: vitalism is a primitive or archaic view, that has somehow survived the emergence of modern science (the latter being defined in many different ways, from demystified Cartesian reductionism to experimental medicine, biochemistry or genetics: Cimino and Duchesneau eds. 1997, Normandin and Wolfe eds. 2013). Such dismissive definitions of vitalism are meant to dispense with argument or analysis. Curiously, the term has gained some popularity in English-language scholarship on early modern philosophy in the past few decades, where it is used without any pejorative dimension, to refer to a kind of ‘active matter’ view, in which matter is not reducible to the (mechanistic) properties of size, shape and motion, possessing instead some internal dynamism or activity (see e.g. James 1999, Boyle 2018, Borcherding forthcoming). The latter meaning is close to what the Cambridge Platonist Ralph Cudworth termed ‘hylozoism’, namely the attribution of life, agency or mind to matter, and he implicitly targeted several figures I shall mention here, notably Margaret Cavendish and Francis Glisson, for holding this view. However, one point I shall make in this entry is that when vitalism first appears by name, and as a self-designation, in the Montpellier School (associated with the Faculty of Medicine at the University of Montpellier, in the second half of the eighteenth century; thus vitalisme appears first, followed shortly thereafter by Vitalismus in German, with ‘vitalism’ appearing in English publications only in the early nineteenth century: Toepfer 2011), it is quite different from both the more ‘supernatural’ view described above – chiefly espoused by its rather obsessive opponents – and from the more neutral, but also de-biologized philosophical view (that of e.g. Cavendish or Conway who are, broadly speaking naturalists). Rather than appealing to a metaphysics of vital force, or of self-organizing matter, this version of vitalism, which I shall refer to as ‘medical vitalism’, seems to be more of a ‘systemic’ theory: an attempt to grasp and describe top-level (‘organizational’, ‘organismic’, ‘holistic’) features of living systems (Wolfe 2017, 2019). In this entry I seek to introduce some periodization in our thinking about early modern (and Enlightenment) vitalism, emphasizing the difference between the seventeenth-century context and that of the following generations – culminating in the ideas of the Montpellier School. This periodization should also function as a kind of taxonomy or at least distinction between some basic types of vitalism. As I discuss in closing, these distinctions can cut across the texts and figures we are dealing with, differently: metaphysical vs. non-metaphysical vitalism, philosophical vs. medical vitalism, medical vs. ‘embryological’ vitalism, and so on. A difference I can only mention but not explore in detail is that the more medically grounded, ‘organismic’ vitalism is significantly post-Cartesian while the more biological/embryological vitalism is, inasmuch as it is a dynamic, self-organizing matter theory, an extension of Renaissance ideas (chymiatry, Galenism and in general theories of medical spirits). I examine successively vitalism’s Renaissance prehistory, its proliferation as ‘vital matter theory’ in seventeenth-century England (in authors such as Cavendish, Conway and Glisson, with brief considerations on Harvey and van Helmont), and its mature expression in eighteenth-century Montpellier (notably with Bordeu and Ménuret de Chambaud)