151 research outputs found
The Present becomes the Past: Photographs of Anafi from the 1960s
Μέσα από µια συλλογή εκατοντάδων ασπρόµαυρων και λίγων έγχρωµων φωτογραφιών, που δώρισε η γράφουσα στο Τµήµα Φωτογραφικών Αρχείων του Μουσείου Μπενάκη, εικονογραφείται η ζωή των κατοίκων της Ανάφης στα µέσα της δεκαετίας του 1960. Τις λήψεις έκανε η δωρήτρια από τον Μάιο 1966 έως τον Αύγουστο 1967 στο πλαίσιο της έρευνάς της στο νησί, για την εκπόνηση διδακτορικής διατριβής στην κοινωνική ανθρωπολογία. Οι φωτογραφίες καταγράφουν τον ετήσιο κύκλο των αγροτικών εργασιών (όργωµα, σπορά, θερισµός, αλώνισµα, µάζεµα της ελιάς, επεξεργασία στο ελαιοτριβείο), σηµαντικές θρησκευτικές εορτές (γιορτές αγίων, απόκριες, Πάσχα), καθώς και ταφικές και επιµνηµόσυνες τελετές (κηδείες, µνηµόσυνα, εκταφή κ.ά.). Παρουσιάζουν, επίσης, απόψεις κυκλαδίτικων σπιτιών µε τη χαρακτηριστική καµάρα, οικισµών και τοπίων. Αποτελούν έτσι σπάνιες µαρτυρίες της ζωής σε ένα από τα νησιά της “άγονης γραµµής”, που βρισκόταν, όπως έλεγαν οι ίδιοι οι κάτοικοί του, «εκατό χρόνια πίσω από τον υπόλοιπο κόσµο»σκεφτεί κανείς ότι σήµερα η Ανάφη έχει πολύ περισσότερο πληθυσµό και µια ανθηρή τουριστική οικονοµία.No abstract in english available
Antropologia dels sentits.Selecció bibliogràfica
Si algú volgués revisar I'estat contemporani de l'antropologia dels sentits hauria de començar amb el llibre font editat per David Howes i titulat The Vorieties of Sensory Experience (Howes ed. 199 1), parant una atenció especial a l'assaig introductori de Howes i a la conclusió de Howes i Classen que ofereix un paradigma per estudiar el sensorium (un terme derivat de la primera secció de The Presence of the Word de Walter Ong (1671 que també estd reeditada al volum de Howes). Howes i els seus companys també ofereixen un recompte d'última hora de la seva posició i recerca actual a la pàgina web de la Universitat Concordia (Canada). D'altres qüestions generals recents inclouen Landscopes of the Mind (1990) de Porteous i Worlds of Sense (1993) de Classen, per a els lectors potser volen tornar a la qüesti6 de Whorf a Language, Thought ond Reolity dels diversos móns conceptuals dels hopis i la 'Mitjana europea estdndard' tal i com s'expressa a través del llenguatge (Whorf 1956)
Otolaryngologic manifestations of klippel-feil syndrome in children
IMPORTANCE: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. OBJECTIVE: To define the otolaryngologic diagnoses made and procedures performed in95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. DESIGN, SETTING, AND PARTICIPANTS: For this retrospective review, all patients with KFS who underwent otolaryngology consultation at our institution over a 26-year period (January 1989 to December 2015) were included. Patients were identified using International Classification of Diseases, Ninth Revision (ICD-9) codes and were confirmed through individual medical record review. Relevant otolaryngologic diagnoses and procedures were extracted using ICD-9 and Current Procedural Terminology codes, respectively. Selected demographics included age, sex, number of clinic visits, and number of procedures. MAINOUTCOMES ANDMEASURES: The primary outcomes were the otolaryngologic diagnoses and procedures associated with the KFS patient population; the secondary outcome was Cormack-Lehane classification documented during airway procedures. RESULTS: Overall, 95 patients with KFS were included in this study (55 males [58%] and 40 females [42%]); mean (range) age at time of presentation to the otorhinolaryngology clinic was 5.8 (birth-23.0) years. Each patient with KFS averaged 8 visits to the otorhinolaryngology office and 5 otolaryngologic diagnoses. The most common diagnosis was conductive hearing loss (n = 49 [52%]), followed by sensorineural hearing loss (n = 38 [40%]), and dysphagia (n = 37 [39%]). Sixty-two (65%) patients underwent otolaryngologic procedures, with 44 (46%) undergoing multiple procedures. The most common procedure was tympanostomy tube placement (n = 36 [38%]), followed by office flexible endoscopy (n = 23 [24%]). Twelve of the20 patients who underwent direct laryngoscopy had documented Cormack-Lehane classification; 5 of 12 patients (42%) had a compromised view (grade 2, 3, or 4) of the larynx. Three patients required tracheotomies at this institution for airway stabilization purposes; each had severe upper airway obstruction leading to respiratory failure. CONCLUSIONS AND RELEVANCE: Patients with KFS require consultation for a variety of otolaryngologic conditions. Among these, hearing loss is the most common, but airway issues related to cervical spine fusion are the most challenging. Formulating an appropriate care plan in advance is paramount, even for routine otolaryngology procedures
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays
Background: Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SLC26A5, TMIE, TMPRSS3, USH1C). We present results from hearing loss arrays developed in two different research facilities and highlight some of the approaches we adopted to enhance the applicability of resequencing arrays in a clinical setting. Results: We leveraged sequence and intensity pattern features responsible for diminished coverage and accuracy and developed a novel algorithm, sPROFILER, which resolved >80% of no-calls from GSEQ and allowed 99.6% (range: 99.2-99.8%) of sequence to be called, while maintaining overall accuracy at >99.8% based upon dideoxy sequencing comparison. Conclusions: Together, these findings provide insight into critical issues for disease-centered resequencing protocols suitable for clinical application and support the use of array-based resequencing technology as a valuable molecular diagnostic tool for pediatric SNHL and other genetic diseases with substantial genetic heterogeneity
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient
Objective To provide recommendations for the workup of hearing loss in the pediatric patient. Methods Expert opinion by the members of the International Pediatric Otolaryngology Group. Results Consensus recommendations include initial screening and diagnosis as well as the workup of sensorineural, conductive and mixed hearing loss in children. The consensus statement discusses the role of genetic testing and imaging and provides algorithms to guide the workup of children with hearing loss. Conclusion The workup of children with hearing loss can be guided by the recommendations provided herein
True metabolizable energy of submersed aquatic vegetation in semi-permanent marshes for dabbling ducks in the upper Midwest
Our primary objectives were to 1) estimate true metabolizable energy of common species of submersed aquatic vegetation in semi-permanent marsh habitats of the Upper Midwest for gadwall and mallards during autumns 2015–2017, and 2) use current and historic estimates of semi-permanent marsh vegetation communities during autumn within the IRV to document the net change in energetic carrying capacity for dabbling ducks and compare with habitat use by waterfowl using long-term aerial surveys of the Illinois Natural History Survey. We assayed seven species of SAV common in the Midwest that have been documented as waterfowl foods: coontail (Ceratophyllum demersum), wild celery (Vallisneria americana), Canadian waterweed (Elodea canadensis),southern naiad (Najas guadalupensis), Eurasian watermilfoil (Myriophyllum spicatum), widgeon grass (Ruppia maritima), and sago pondweed (Stuckenia pectinate; Anderson 1959, Stewart 1962, Bergman 1973, Havera 1999, Benedict and Hepp 2000, Hitchcock 2009, Baldassarre 2014). Understanding the energetic value of SAV for dabbling ducks will allow wetland managers to accurately evaluate wetland management practices and conservation planners to develop more accurate energetic carrying capacity models. We predicted that the energetic carrying capacity of semi-permanent marshes containing SAV will be slightly less than if the same wetlands were managed for moist-soil vegetation (Bowyer et al. 2005). We hypothesized that the TME of SAV per unit biomass will be less than that of moist-soil seeds and agricultural grains. Further, we hypothesized that the TME of SAV will be independent of sex and trial week.Unites States Fish and Wildlife Service Contract Number: F15AP00687unpublishednot peer reviewedOpe
Genomic diversity of bacteriophages infecting Microbacterium spp
The bacteriophage population is vast, dynamic, old, and genetically diverse. The genomics of phages that infect bacterial hosts in the phylum Actinobacteria show them to not only be diverse but also pervasively mosaic, and replete with genes of unknown function. To further explore this broad group of bacteriophages, we describe here the isolation and genomic characterization of 116 phages that infect Microbacterium spp. Most of the phages are lytic, and can be grouped into twelve clusters according to their overall relatedness; seven of the phages are singletons with no close relatives. Genome sizes vary from 17.3 kbp to 97.7 kbp, and their G+C% content ranges from 51.4% to 71.4%, compared to ~67% for their Microbacterium hosts. The phages were isolated on five different Microbacterium species, but typically do not efficiently infect strains beyond the one on which they were isolated. These Microbacterium phages contain many novel features, including very large viral genes (13.5 kbp) and unusual fusions of structural proteins, including a fusion of VIP2 toxin and a MuF-like protein into a single gene. These phages and their genetic components such as integration systems, recombineering tools, and phage-mediated delivery systems, will be useful resources for advancing Microbacterium genetics
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Purpose: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required for the interpretation of these two variants.
Methods: The ClinGen Hearing Loss Expert Panel collected published data and shared unpublished information from contributing laboratories and clinics regarding the two variants. Functional, computational, allelic, and segregation data were also obtained. Case-control statistical analyses were performed.
Results: The panel reviewed the synthesized information, and classified the p.Met34Thr and p.Val37Ile variants utilizing professional variant interpretation guidelines and professional judgment. We found that p.Met34Thr and p.Val37Ile are significantly overrepresented in hearing loss patients, compared with population controls. Individuals homozygous or compound heterozygous for p.Met34Thr or p.Val37Ile typically manifest mild to moderate hearing loss. Several other types of evidence also support pathogenic roles for these two variants.
Conclusion: Resolving controversies in variant classification requires coordinated effort among a panel of international multi-institutional experts to share data, standardize classification guidelines, review evidence, and reach a consensus. We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance
Trapping \u3ci\u3ePhyllophaga \u3c/i\u3espp. (Coleoptera: Scarabaeidae: Melolonthinae) in the United States and Canada using sex attractants.
The sex pheromone of the scarab beetle, Phyllophaga anxia, is a blend of the methyl esters of two amino acids, L-valine and L-isoleucine. A field trapping study was conducted, deploying different blends of the two compounds at 59 locations in the United States and Canada. More than 57,000 males of 61 Phyllophaga species (Coleoptera: Scarabaeidae: Melolonthinae) were captured and identified. Three major findings included: (1) widespread use of the two compounds [of the 147 Phyllophaga (sensu stricto) species found in the United States and Canada, males of nearly 40% were captured]; (2) in most species intraspecific male response to the pheromone blends was stable between years and over geography; and (3) an unusual pheromone polymorphism was described from P. anxia. Populations at some locations were captured with L-valine methyl ester alone, whereas populations at other locations were captured with L-isoleucine methyl ester alone. At additional locations, the L-valine methyl ester-responding populations and the L-isoleucine methyl ester-responding populations were both present, producing a bimodal capture curve. In southeastern Massachusetts and in Rhode Island, in the United States, P. anxia males were captured with blends of L-valine methyl ester and L-isoleucine methyl ester
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Comprehensive molecular characterization of gastric adenocarcinoma
Gastric cancer is a leading cause of cancer deaths, but analysis of its molecular and clinical characteristics has been complicated by histological and aetiological heterogeneity. Here we describe a comprehensive molecular evaluation of 295 primary gastric adenocarcinomas as part of The Cancer Genome Atlas (TCGA) project. We propose a molecular classification dividing gastric cancer into four subtypes: tumours positive for Epstein–Barr virus, which display recurrent PIK3CA mutations, extreme DNA hypermethylation, and amplification of JAK2, CD274 (also known as PD-L1) and PDCD1LG2 (also knownasPD-L2); microsatellite unstable tumours, which show elevated mutation rates, including mutations of genes encoding targetable oncogenic signalling proteins; genomically stable tumours, which are enriched for the diffuse histological variant and mutations of RHOA or fusions involving RHO-family GTPase-activating proteins; and tumours with chromosomal instability, which show marked aneuploidy and focal amplification of receptor tyrosine kinases. Identification of these subtypes provides a roadmap for patient stratification and trials of targeted therapies
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