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Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with affected or normal cognition and later onset. Mutations in dystroglycanopathy genes affect a specific glycoepitope on α-dystroglycan; of the 14 genes implicated to date, LARGE encodes the glycosyltransferase that adds the final xylose and glucuronic acid, allowing α-dystroglycan to bind ligands, including laminin 211 and neurexin. Only 11 patients with LARGE mutations have been reported. We report the clinical, neuroimaging, and genetic features of 4 additional patients. We confirm that gross deletions and rearrangements are important mutational mechanisms for LARGE. The brain abnormalities overshadowed the initially mild muscle phenotype in all 4 patients. We present the first comprehensive postnatal neuropathology of the brain, spinal cord, and eyes of a patient with a homozygous LARGE mutation at Cys443. In this patient, polymicrogyria was the predominant cortical malformation; densely festooned polymicrogyria were overlaid by a continuous agyric surface. In view of the severity of these abnormalities, Cys443 may be a functionally important residue in the LARGE protein, whereas the mutation p.Glu509Lys of Patient 1 in this study may confer a milder phenotype. Overall, these results expand the clinical and genetic spectrum of dystroglycanopathy.

Homicide perpetrators can use concrete as a means to conceal their victims. When concrete encasement is encountered in the forensic field, albeit rarely, it is often coupled with postmortem dismemberment. This method of obscuring the evidence presents unique investigative obstacles, specifically related to identification. Various approaches to obtaining fingerprints from decedents encased in concrete have been suggested and implemented over the years. The presented case is that of an initially unidentified 44‐year‐old male, who was subject to postmortem dismemberment and concrete encasement. Meticulous excavation techniques facilitated preservation of evidence and an anatomical reconstruction of the body. These techniques enabled inspection of the incision sites of the dismembered remains during the postmortem examination. Identifiable jewelry and tattoos were noted at autopsy. Further, the resulting concrete molds could be utilized to obtain fingerprints. These prints were used to ultimately identify the decedent. [ABSTRACT FROM AUTHOR]

To extend present knowledge of communities of wood decay fungi in native forests, basidiomycetes and ascomycetes were isolated from within 15 fallen stems in beech (Nothofagus, Nothofagaceae) forests in the South Island of New Zealand. Fungal species were identified as precisely as possible using traditional culturing and molecular approaches. The internal distribution of species within stems was determined. Common fungi that occupied significant portions of stems were Ganoderma applanatum sensu Wakefield, Australoporus tasmanicus, Inonotus nothofagi, Pleurotus purpureo-olivaceus, and an unidentified hymenochaetaceous species. Richness and diversity of basidiomycete species were greater in stems of red beech (Nothofagus fusca (Hook. f.) Oerst.) and silver beech (Nothofagus menziesii (Hook. f.) Oerst.) than in those of matai (Prumnopitys taxifolia (Banks & Sol. ex D. Don) de Laub.; Podocarpaceae) and tawa (Beilschmiedia tawa (A. Cunn.) Kirk; Lauraceae), as determined from earlier studies in podocarp hardwood and beech indigenous forests. There was greater similarity in the species composition of basidiomycete fungi colonising the three beech species compared with those colonising rimu (Dacrydium cupressinum Sol. ex Lamb.; Podocarpaceae), tawa, and matai. Based on observations in this study and on international research on the effects of selective logging on basidiomycete biodiversity, the decision to restrict to 50% the extraction of wood following storm damage in beech forests on the West Coast of the South Island appears to have been appropriate.Key words: fungal biodiversity, decomposer fungi, decay of fallen Nothofagus stems, New Zealand indigenous forest ecology.Dans le but d'ameliorer notre connaissance des communautes de champignons de carie dans les forets indigenes, des basidiomycetes et des ascomycetes ont ete isoles dans le bois de 15 tiges au sol dans des forets de hetres (Nothofagus, Nothofagacees) de l'Ile du Sud en Nouvelle-Zelande. Les especes fongiques ont ete identifiees aussi precisement que possible en utilisant la mise en culture traditionnelle et les approches moleculaires. La distribution des especes a l'interieur des tiges a ete determinee. Les champignons communs qui occupaient des portions importantes des tiges etaient Ganoderma applanatum sensu Wakefield, Australoporus tasmanicus, Inonotus nothofagi, Pleurotus purpereo-olivaceus et une espece non identifiee d'hymenochaetacees. La richesse et la diversite des especes de basidiomycetes etaient plus grandes dans les tiges du hetre rouge (Nothofagus fusca (Hook. f.) Oerst.) et du hetre argente (Nothofagus menziesii (Hook. f.) Oerst.) que dans celles du matai (Prumnopitys taxifolia (Banks & Sol. ex D. Don) de Laub.; Podocarpacees) et du tawa (Beilschmiedia tawa (A. Cunn.) Kirk; Lauracees), tel que determine lors d'etudes precedentes dans des forets indigenes de feuillus podocarpes et de hetres. Il y avait une plus grande similitude dans la composition en especes de champignons basidiomycetes qui colonisaient les trois especes de hetres comparativement a ceux qui colonisaient le rimu (Dacrydium cupressinum Sol. ex Lamb.; Podocarpacees), le tawa et le matai. Sur la base des observations faites dans le cadre de cette etude et de travaux de recherche internationaux sur les effets de la coupe selective sur la biodiversite des basidiomycetes, la decision de restreindre a 50 % l'extraction de bois a la suite de dommages dus aux tempetes dans les forets de hetres de la cote ouest de l'Ile du Sud semble avoir ete appropriee. [Traduit par la Redaction]Mots-cles : biodiversite fongique, champignons decomposeurs, carie des tiges au sol de Nothofagus, ecologie des forets indigenes de Nouvelle-Zelande., 1. IntroductionThe decay of woody matter is crucial to the overall forest ecosystem. The release of carbon and minerals during this process offsets the reverse actions of carbon assimilation and [...]

Obtaining identifiable fingerprints from decomposing human remains is often a difficult task. This technical note will explain a simple method for obtaining identifiable fingerprints from decomposing human hands that have been encased in concrete. [ABSTRACT FROM AUTHOR]

Growing numbers of service providers are implementing video services over IP networks, and discovering the unique challenges of providing a high quality-of-experience (QoE) to subscribers. Delivering consistent QoE in packet-switched networks can be a complex proposition due to the high sensitivity of video traffic to packet loss, as well as to delay and jitter. Preserving video quality in IP Television (IPTV) networks that mostly rely on copper access lines poses an even greater challenge. Service providers need intelligent mechanisms in core and distribution networks to prevent congestion that deteriorates video quality, as well as intelligence between the aggregation networks and IP set-top box (STB) to repair packet losses, speed up channel change times and monitor the quality of the subscriber experience. This paper discusses a series of core and aggregation-layer approaches, collectively referred to as Visual Quality of Experience (VQE) to address these issues. The VQE approach encompasses on-path video connection admission control (CAC) employing Resource ReSerVation Protocol (RSVP) in the core and aggregation layers, and a real-time signaling mechanism operating between the provider aggregation edge and the IP STBs to address packet losses, long channel change times and quality monitoring. Index Terms--Call admission control, channel change time, DSL line errors, IPTV, IPTV quality monitoring, RSVP.