| 1 | Electrophysiology and genetic testing in the precision medicine of congenital deafness:A review显示文摘Background:Congenital hearing loss is remarkably heterogeneous,with over 130 deafness genes and thousands of variants,making for innumerable genotype/phenotype combinations.Understanding both the pathophysiology of hearing loss and molecular site of lesion along the auditory pathway permits for significantly individualized counseling.Electrophysiologic techniques such as electrocochleography(ECochG)and electrically-evoked compound action potentials(eCAP)are being studied to localize pathology and estimate residual cochlear vs.neural health.This review describes the expanding roles of genetic and electrophysiologic evaluation in the precision medicine of congenital hearing loss.The basics of genetic mutations in hearing loss and electrophysiologic testing(ECochG and eCAP)are reviewed,and how they complement each other in the diagnostics and prognostication of hearing outcomes.Used together,these measures improve the understanding of insults to the auditory system,allowing for individualized counseling for CI candidacy/outcomes or other habilitation strategies.Conclusion:Despite tremendous discovery in deafness genes,the effects of individual genes on neural function remain poorly understood.Bridging the understanding between molecular genotype and neural and functional phenotype is paramount to interpreting genetic results in clinical practice.The future hearing healthcare provider must consolidate an ever-increasing amount of genetic and phenotypic information in the precision medicine of hearing loss. | Kevin Y.Zhan Oliver F.Adunka Adrien Eshraghi William J.Riggs Sandra M.Prentiss Denise Yan Fred F.Telischi Xuezhong Liu Shuman He | 2021 | Journal of Otology2021,16,1: | 2 |
| 11 | Fungal diversity notes 1036-1150:taxonomic and phylogenetic contributions on genera and species of fungal taxa显示文摘This article is the tenth series of the Fungal Diversity Notes,where 114 taxa distributed in three phyla,ten classes,30 orders and 53 families are described and illustrated.Taxa described in the present study include one new family(viz.Pseudoberkleasmiaceae in Dothideomycetes),five new genera(Caatingomyces,Cryptoschizotrema,Neoacladium,Paramassaria and Trochilispora)and 71 new species,(viz.Acrogenospora thailandica,Amniculicola aquatica,A.guttulata,Angustimassarina sylvatica,Blackwellomyces lateris,Boubovia gelatinosa,Buellia viridula,Caatingomyces brasiliensis,Calophoma humuli,Camarosporidiella mori,Canalisporium dehongense,Cantharellus brunneopallidus,C.griseotinctus,Castanediella meliponae,Coprinopsis psammophila,Cordyceps succavus,Cortinarius minusculus,C.subscotoides,Diaporthe italiana,D.rumicicola,Diatrypella delonicis,Dictyocheirospora aquadulcis,D.taiwanense,Digitodesmium chiangmaiense,Distoseptispora dehongensis,D.palmarum,Dothiorella styphnolobii,Ellisembia aurea,Falciformispora aquatic,Fomitiporia carpinea,F.lagerstroemiae,Grammothele aurantiaca,G.micropora,Hermatomyces bauhiniae,Jahnula queenslandica,Kamalomyces mangrovei,Lecidella yunnanensis,Micarea squamulosa,Muriphaeosphaeria angustifoliae,Neoacladium indicum,Neodidymelliopsis sambuci,Neosetophoma miscanthi,N.salicis,Nodulosphaeria aquilegiae,N.thalictri,Paramassaria samaneae,Penicillium circulare,P.geumsanense,P.mali-pumilae,P.psychrotrophicum,P.wandoense,Phaeoisaria siamensis,Phaeopoacea asparagicola,Phaeosphaeria penniseti,Plectocarpon galapagoense,Porina sorediata,Pseudoberkleasmium chiangmaiense,Pyrenochaetopsis sinensis,Rhizophydium koreanum,Russula prasina,Sporoschisma chiangraiense,Stigmatomyces chamaemyiae,S.cocksii,S.papei,S.tschirnhausii,S.vikhrevii,Thysanorea uniseptata,Torula breviconidiophora,T.polyseptata,Trochilispora schefflerae and Vaginatispora palmae).Further,twelve new combinations(viz.Cryptoschizotrema cryptotrema,Prolixandromyces australi,P.elongatus,P.falcatus,P.longispinae,P.microveliae,P.neoalardi,P.polhemorum,P.protuberans,P.pseudoveliae,P.tenuistipitis and P.umbonatus),an epitype is chosen for Cantharellus goossensiae,a reference specimen for Acrogenospora sphaerocephala and new synonym Prolixandromyces are designated.Twenty-four new records on new hosts and new geographical distributions are also reported(i.e.Acrostalagmus annulatus,Cantharellus goossensiae,Coprinopsis villosa,Dothiorella plurivora,Dothiorella rhamni,Dothiorella symphoricarposicola,Dictyocheirospora rotunda,Fasciatispora arengae,Grammothele brasiliensis,Lasiodiplodia iraniensis,Lembosia xyliae,Morenoina palmicola,Murispora cicognanii,Neodidymelliopsis farokhinejadii,Neolinocarpon rachidis,Nothophoma quercina,Peroneutypa scoparia,Pestalotiopsis aggestorum,Pilidium concavum,Plagiostoma salicellum,Protofenestella ulmi,Sarocladium kiliense,Tetraploa nagasakiensis and Vaginatispora armatispora). | Kevin D.Hyde Danushka S.Tennakoon Rajesh Jeewon DJayarama Bhat Sajeewa S.N.Maharachchikumbura Walter Rossi Marco Leonardi Hyang Burm Lee Hye Yeon Mun Jos Houbraken Thuong T.T.Nguyen Sun Jeong Jeon Jens Christian Frisvad Dhanushka N.Wanasinghe Robert Lucking Andre Aptroot Marcela E.S.Caceres Samantha C.Karunarathna Sinang Hongsanan Rungtiwa Phookamsak Nimali Ide Silva Kasun M.Thambugala Ruvishika S.Jayawardena Indunil C.Senanayake Saranyaphat Boonmee Jie Chen Zong-Long Luo Chayanard Phukhamsakda Olinto L.Pereira Vanessa P.Abreu Andre Wilson Campos Rosado Buyck Bart Emile Randrianjohany Vale rie Hofstetter Tatiana B.Gibertoni Adriene Mayrada Silva Soares Helio Longoni Plautz Jr Helen Maria Pontes Sotao William Kalhy Silva Xavier Jadson Diogo Pereira Bezerra Thays Gabrielle Linsde Oliveira Cristina Mariade Souza-Motta Oliane Maria Correia Magalhaes Digvijayini Bundhun Dulanjalee Harishchandra Ishara S.Manawasinghe Wei Dong Sheng-Nan Zhang Dan-Feng Bao Milan C.Samarakoon Dhandevi Pem Anuruddha Karunarathna Chuan-Gen Lin Jing Yang Rekhani H.Perera Vinit Kumar Shi-Ke Huang Monika C.Dayarathne Anusha H.Ekanayaka Subashini C.Jayasiri Yuanpin Xiao Sirinapa Konta Tuula Niskanen Kare Liimatainen Yu-Cheng Dai Xiao-Hong Ji Xue-Mei Tian Armin Mesic Sanjay K.Singh Kunthida Phutthacharoen Lei Cai Touny Sorvongxay Vinodhini Thiyagaraja Chada Norphanphoun Napalai Chaiwan Yong-Zhong Lu Hong-Bo Jiang Jin-Feng Zhang Pranami D.Abeywickrama Janith V.S.Aluthmuhandiram Rashika S.Brahmanage Ming Zeng Thilini Chethana Deping Wei Martina Reblova Jacques Fournier Jana Nekvindova Renan do Nascimento Barbosa Jose Ewerton Felintodos Santos Neiva Tintide Oliveira Guo-Jie Li Damien Ertz Qiu-Ju Shang Alan J.L.Phillips Chang-Hsin Kuo Erio Camporesi Timur S.Bulgakov Saisamorn Lumyong E.B.Gareth Jones Putarak Chomnunti Eleni Gentekaki Frank Bungartz Xiang-Yu Zeng Sally Fryar Zdenko Tkalcec Junmin Liang Guangshuo Li Ting-Chi Wen Paras Nath Singh Yusufjon Gafforov Itthayakorn Promputtha Erandi Yasanthika Ishani D.Goonasekara Rui-Lin Zhao Qi Zhao Paul M.Kirk Jian-KuiLiu JiYe Yan Peter E.Mortimer Jianchu Xu Mingkwan Doilom | 2019 | Fungal Diversity2019,,3: | 0 |