cometadata/datacite-rtg-text-other-reclassification-records huggingface dataset:
Genomic variability in Mexican chicken population using Copy Number Variation
Creators: name: Gorla, Erica
name: Cozzi, Maria Cristina
name: Roman Ponce, Sergio Ivan
name: Ruiz López, Felipe J.
name: Vega Murillo, Vicente E.
name: Cerolini, Silvia
name: Bagnato, Alessandro
name: Strillacci, Maria Giuseppina
Publisher: name: International Journal of Health, Animal Science and Food Safety
Year: 2017
Subjects: Copy Number Variant, Chicken, Genetic Variability

description: Copy number variants (CNVs) are polymorphisms which influence phenotypic variation and are an important source of genetic variability [1]. In Mexico the backyard poultry population is a unique widespread Creole chicken (Gallus gallus domesticus) population, an undefined cross among different breeds brought to Mexico from Europe and under natural selection for almost 500 years [2-3]. The aim of this study was to investigate genomic variation in the Mexican chicken population using CNVs.

A total of 256 DNA samples genotyped with Axiom® Genome-Wide Chicken Genotyping Array were used in the analyses. The individual CNV calling, based on log-R ratio and B-allele frequency values, was performed using the Hidden Markov Model (HMM) of PennCNV software on the autosomes [4-5]. CNVs were summarized to CNV regions (CNVRs) at a population level (i.e. overlapping CNVs), using BEDTools.

The HMM detected a total of 1924 CNVs in the genome of 256 samples resulting, at population level, in 1216 CNV regions, of which 959 gains, 226 losses and 31 complex CNVRs (i.e. containing both losses and gains), covering a total of 47 Mb of sequence length corresponding to 5,12 % of the chicken galGal4 assembly autosome. A comparison among this study and 7 previous reports about CNVs in chicken was performed, finding that the 1,216 CNVRs detected in this study overlap with 617 regions (51%) mapped by others studies.

This study allowed a deep insight into the structural variation in the genome of unselected Mexican chicken population, which up to now has not been never genetically characterized with SNP markers. Based on a cluster analysis (pvclust – R package) on CNV markers the population, even if presenting extreme morphological variation, does not resulted divided in differentiated genetic subpopulations. Finally this study provides a CNV map based on the 600K SNP chip array jointly with a genome-wide gene copy number estimates in Mexican chicken population.
description: International Journal of Health, Animal Science and Food Safety, V. 4, N. 1s (2017)
Lessons from HuMetricsHSS: Humane Metrics Initiative
Creators: name: Konkiel, Stacy
Publisher: name: unknown
Year: 2017
Subjects: subject: Politics and government--Philosophy
subject: Bibliometrics

description: Deficiencies to the status quo are the reason why we need a reimagined approach to research evaluation that's rooted in community values. HuMetricsHSS might provide a path for the larger evaluation community to do just that.
Additional file 3 of Bayesian phylodynamic analysis reveals the evolutionary history and the dispersal patterns of citrus tristeza virus in China based on the p25 gene
Creators: name: Wang, Changning
name: Chen, Chaoyun
name: Chen, Yiqun
name: Zhong, Ke
name: Yi, Long
Publisher: name: figshare
Year: 2024
Subjects: subject: Microbiology
subject: FOS: Biological sciences
subject: Environmental Sciences not elsewhere classified
subject: Chemical Sciences not elsewhere classified
subject: Ecology
subject: Biological Sciences not elsewhere classified
subject: Plant Biology

description: Supplementary Material 3
sj-docx-1-dst-10.1177_19322968211059547 – Supplemental material for The Use of Extreme Value Statistics to Characterize Blood Glucose Curves and Patient Level Risk Assessment of Patients With Type I Diabetes
Creators: name: Szigeti, Mátyás
name: Ferenci, Tamás
name: Kovács, Levente
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 111708 Health and Community Services
subject: FOS: Health sciences
subject: 110306 Endocrinology
subject: FOS: Clinical medicine
subject: Medicine
subject: 111199 Nutrition and Dietetics not elsewhere classified

description: Supplemental material, sj-docx-1-dst-10.1177_19322968211059547 for The Use of Extreme Value Statistics to Characterize Blood Glucose Curves and Patient Level Risk Assessment of Patients With Type I Diabetes by Mátyás Szigeti, Tamás Ferenci and Levente Kovács in Journal of Diabetes Science and Technology
Kritik Sastra Indonesia Dalam Jurnal Humaniora Tahun 2000-2008
Creators: name: Tirto Suwondo
Publisher: name: Zenodo
Year: 2010
Subjects: jurnal, kritik sastra

description: This study examines the criticism of Indonesian literature. The object of the study is the works of Indonesian literary criticism published in the Humanities journal 2000-2008. Because the object studied is a critique of criticism while the criticism itself is essentially a welcome form of the reader, the theory used is literary receptions (reader response) and the method is a receptive through literary criticism conducted in synchronous fashion. These theories and methods are used as the basis and mode of analysis of the problem of orientation or tendency and criticism targets. From the analysis, it was finally concluded that the dominant Indonesian literary critics in Humanity journals were oriented to literary works (novels, short stories, poetry) and things outside the literary works received little attention. It shows that today has awakened an awareness of the essence of literary criticism: literary criticism is essentially a critique of literary work, not a critique of things outside of literary works.
Additional file 4 of Bayesian phylodynamic analysis reveals the evolutionary history and the dispersal patterns of citrus tristeza virus in China based on the p25 gene
Creators: name: Wang, Changning
name: Chen, Chaoyun
name: Chen, Yiqun
name: Zhong, Ke
name: Yi, Long
Publisher: name: figshare
Year: 2024
Subjects: subject: Microbiology
subject: FOS: Biological sciences
subject: Environmental Sciences not elsewhere classified
subject: Chemical Sciences not elsewhere classified
subject: Ecology
subject: Biological Sciences not elsewhere classified
subject: Plant Biology

description: Supplementary Material 4
Contextualising the cropmark record: the timber monuments of the Neolithic of Scotland. Volume 1: Text
Creators: name: Millican, Kirsty
Publisher: name: unknown
Year: 2009
Subjects: subject: Landscapes
subject: Archaeology

description: Monuments of stone, earth and wood were built for the first time at the beginning of the Neolithic period in Scotland (4000 BC). While archaeological attention and investigation has focused upon monuments of stone and earth, those of timber have generally received much less attention and remain to be fully accepted and integrated into wider understandings of the Neolithic. This is despite a rich record of cropmark timber monuments held within aerial archives and an increasing number of excavated timber monuments. This thesis is an attempt to remedy this imbalance. It examines all the evidence for timber monuments of Neolithic date currently recorded in Scotland, integrating those recorded as cropmarks with those uncovered during excavation and considers their place within the wider Neolithic repertoire. This thesis strives to move beyond cropmarks and the morphology of sites. A more contextual approach is taken whereby other factors, such as materialities or the use of space are taken into account. Ultimately, this study demonstrates that timber monuments were important spaces and places that were used by Neolithic communities for many different purposes and so should form an important part of any consideration of the Neolithic period in Scotland.
Additional file 2 of Asking about violence and abuse among patients experiencing homelessness: a focus group study with healthcare professionals
Creators: name: Gaber, Sophie Nadia
name: Rydeman, Ing-Britt
name: Mattsson, Elisabet
name: Kneck, Åsa
Publisher: name: figshare
Year: 2024
Subjects: Biotechnology
Mathematical Sciences not elsewhere classified
Science Policy
Mental Health

description: Supplementary Material 2
Additional file 1 of Nurses’ intention to care for patients with infectious disease: a content analysis study
Creators: name: Hoseinzadeh, Esmaeil
name: Ebadi, Abbas
name: Ashktorab, Tahereh
name: Sharif-Nia, Hamid
Publisher: name: figshare
Year: 2023
Subjects: subject: Medicine
subject: Environmental Sciences not elsewhere classified
subject: Sociology
subject: FOS: Sociology
subject: Biological Sciences not elsewhere classified
subject: Science Policy

description: Supplementary Material 1
Contextualising the cropmark record: the timber monuments of the Neolithic of Scotland. Volume 2: Gazetteer
Creators: name: Millican, Kirsty
Publisher: name: unknown
Year: 2009
Subjects: subject: Archaeology

description: PhD Thesis. Volume 2; Gazetteer
Monuments of stone, earth and wood were built for the first time at the beginning of the Neolithic period in Scotland (4000 BC). While archaeological attention and investigation has focused upon monuments of stone and earth, those of timber have generally received much less attention and remain to be fully accepted and integrated into wider understandings of the Neolithic. This is despite a rich record of cropmark timber monuments held within aerial archives and an increasing number of excavated timber monuments. This thesis is an attempt to remedy this imbalance. It examines all the evidence for timber monuments of Neolithic date currently recorded in Scotland, integrating those recorded as cropmarks with those uncovered during excavation and considers their place within the wider Neolithic repertoire. This thesis strives to move beyond cropmarks and the morphology of sites. A more contextual approach is taken whereby other factors, such as materialities or the use of space are taken into account. Ultimately, this study demonstrates that timber monuments were important spaces and places that were used by Neolithic communities for many different purposes and so should form an important part of any consideration of the Neolithic period in Scotland.
sj-docx-1-npx-10.1177_1934578X211054955 - Supplemental material for UHPLC-ESI-Orbitrap-HR-MS Analysis of Cyclopeptide Alkaloids From Ziziphus joazeiro
Creators: name: Corrêa dos Santos, Carlos Henrique
name: Geraldo de Carvalho, Mário
name: Laub, Annegret
name: Franke, Katrin
name: Wessjohann, Ludger
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified
subject: FOS: Clinical medicine

description: Supplemental material, sj-docx-1-npx-10.1177_1934578X211054955 for UHPLC-ESI-Orbitrap-HR-MS Analysis of Cyclopeptide Alkaloids From Ziziphus joazeiro by Carlos Henrique Corrêa dos Santos, Mário Geraldo de Carvalho, Annegret Laub, Katrin Franke and Ludger Wessjohann in Natural Product Communications
sj-docx-5-bbi-10.1177_11779322211067365 – Supplemental material for Potential Molecular Mechanisms and Remdesivir Treatment for Acute Respiratory Syndrome Corona Virus 2 Infection/COVID 19 Through RNA Sequencing and Bioinformatics Analysis
Creators: name: Prashanth, G
name: Vastrad, Basavaraj
name: Vastrad, Chanabasayya
name: Kotrashetti, Shivakumar
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 69999 Biological Sciences not elsewhere classified
subject: FOS: Biological sciences

description: Supplemental material, sj-docx-5-bbi-10.1177_11779322211067365 for Potential Molecular Mechanisms and Remdesivir Treatment for Acute Respiratory Syndrome Corona Virus 2 Infection/COVID 19 Through RNA Sequencing and Bioinformatics Analysis by G Prashanth, Basavaraj Vastrad, Chanabasayya Vastrad and Shivakumar Kotrashetti in Bioinformatics and Biology Insights
sj-pdf-1-bjp-10.1177_20494637211062045 – Supplemental Material for Significant other interactions in people with chronic low back pain: Subgrouping and multidimensional profiles
Creators: name: Rabey, Martin
name: Buldo, Brendan
name: Duesund Helland, Magnus
name: Pang, Courtenay
name: Kendell, Michelle
name: Beales, Darren
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 110904 Neurology and Neuromuscular Diseases
subject: FOS: Clinical medicine
subject: 111702 Aged Health Care
subject: FOS: Health sciences

description: Supplemental Material, sj-pdf-1-bjp-10.1177_20494637211062045 for Significant other interactions in people with chronic low back pain: Subgrouping and multidimensional profiles by Martin Rabey, Brendan Buldo, Magnus Duesund Helland, Courtenay Pang, Michelle Kendell and Darren Beales in British Journal of Pain
Supplementary document for Smart strategy of butterfly wing scales to control the light diffusion and absorption - 5268327.pdf
Creators: name: Priyanka, Priyanka
name: Sharma, Sachin
name: SAINI, SUDHIR KUMAR
name: SINGH, NITESH
name: KHOKHAR, MEGHA
name: Nair, Rajesh
Publisher: name: Optica Publishing Group
Year: 2021
Subjects: subject: 20504 Photonics, Optoelectronics and Optical Communications
subject: FOS: Physical sciences

description: supporting information
Kliinilised ravimiuuringud Eestis
Creators: name: Irs, Alar
Publisher: name: Eesti Arst
Year: 2008

description: 30. oktoobril toimus Tallinnas Ravimiameti ja Ravimitootjate Liidu korraldatud konverents „Eesti kliiniliste uuringute keskkonnana – täna ja homme“. Konverents käsitles kliinilisi ravimiuuringuid Eestis kahest vaatenurgast: kas uuringuid tehakse Eestis piisavalt hästi ning mida on võimalik teha, et Eesti oleks uuringute korraldamiseks atraktiivne koht.

Eesti Arst 2008; 87(12):916−918
description: Eesti Arst, Detsember 2008
Argoon- ja selektiivse lasertrabekuloplastika efektiivsus glaukoomi ravis
Creators: name: Kaljurand, Kuldar
Publisher: name: Eesti Arst
Year: 2008
Subjects: glaukoom, lasertrabekuloplastika, silma siserõhk

description: Uuringu eesmärgiks oli retrospektiivselt võrrelda kahe erineva lasertrabekuloplastika
meetodi efektiivsust silma siserõhu langetamisel avatud nurga glaukoomi patsientidel. Uuringu käigus võrreldi kuue kuu vältel argoon- ja selektiivse lasertrabekuloplastika protseduuri läbinud patsientide silma siserõhu langust. Jälgimisaja lõpul oli mõlema
protseduuri kasutamisel oluline silma siserõhu langus võrreldes protseduurieelsega:
rõhk alanes 5,2 mm Hg argoon- ja 4,5 mm Hg selektiivse lasertrabekuloplastika rühmas. Olulist rõhulanguse erinevust kahe meetodi vahel ei esinenud.

Eesti Arst 2008; 87(12):919−922
description: Eesti Arst, Detsember 2008
sj-pdf-1-vas-10.1177_17085381211062747 – Supplemental material for The effects of major depression disorder on neurogenic thoracic outlet syndrome surgery outcomes
Creators: name: Alnahhal, Khaled I
name: Penukonda, Suhas
name: Lingutla, Ranjana
name: Irshad, Ali
name: Allison, Genève M
name: Salehi, Payam
Publisher: name: SAGE Journals
Year: 2021
Subjects: Cardiology

description: Supplemental material, sj-pdf-1-vas-10.1177_17085381211062747 for The effects of major depression disorder on neurogenic thoracic outlet syndrome surgery outcomes by Alnahhal Khaled I, Penukonda Suhas, Lingutla Ranjana, Irshad Ali, Allison Genéve M, and Salehi Payam
Trombotsüütide agregatsiooni inhibeerimine B6-vitamiini vitameeridega in vitro koronaarhaigetel
Creators: name: Mardla, Vilja
name: Rätsep, Indrek
name: Kobzar, Gennadi
name: Špitsmeister, Merli
name: Samel, Nigulas
Publisher: name: Eesti Arst
Year: 2008
Subjects: trombotsüütide agregatsioon, püridoksiin, püridoksamiin, püridoksaal, püridoksaalfosfaat

description: B6-vitamiin inhibeerib trombotsüütide agregatsiooni ja samal ajal kaitseb ka veresoone endoteelirakke kahjustuste eest. Töös uuriti B6-vitamiini vitameeride püridoksiini (PN), püridoksamiini (PM), püridoksaali (PL) ja püridoksaalfosfaadi (PLP) toimeid trombotsüütide
agregatsioonile koronaarhaigetel võrdlevalt nii optilise kui ka impedantsmeetodiga
in vitro. Mõlema meetodi puhul ei erinenud B6-vitamiini vitameeride IC50 väärtused märkimisväärselt. Kuna erinevad B6-vitamiini vitameerid esinevad vereplasmas korraga, uuriti ka nende koostoimet. Eraldi võetuna inhibeerivad nad trombotsüütide agregatsiooni millimolaarstetes kontsentratsioonides, kombinatsioonides on nad tõhusad juba mikromolaarsetes kontsentratsioonides. Selline tulemus viitab B6-vitamiini vitameeride võimalikule rollile aterotromboosi kujunemisel.

Eesti Arst 2008; 87(12):923−929
description: Eesti Arst, Detsember 2008
Ajukahjustusega patsiendi intensiivravi põhimõtted
Creators: name: Ellervee, Anneli
name: Reinhard, Veronika
Publisher: name: Eesti Arst
Year: 2008
Subjects: neurointensiivravi, ajukahjustus

description: Spetsialiseeritud neurointensiivravi osakondade loomine, kus on tagatud ööpäevaringne intensivisti ja õenduspersonali valve, on oluliselt parandanud raske ajukahjustusega haigete ravi tulemusi. Nüüdisajal ravitakse spetsialiseeritud osakondades raske ajutraumaga, ajuveresoonte patoloogiaga, närvisüsteemi põletikuliste haigustega,epileptilise staatusega ja närvi-lihashaigustega kaasneva hingamispuudulikkusega haigeid.
description: Eesti Arst, November 2008
sj-pdf-7-pmj-10.1177_02692163211065278 – Supplemental material for Risk factors for delirium in adult patients receiving specialist palliative care: A systematic review and meta-analysis
Creators: name: Featherstone, Imogen
name: Sheldon, Trevor
name: Johnson, Miriam
name: Woodhouse, Rebecca
name: Boland, Jason W
name: Hosie, Annmarie
name: Lawlor, Peter
name: Russell, Gregor
name: Bush, Shirley
name: Siddiqi, Najma
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 110308 Geriatrics and Gerontology
subject: FOS: Clinical medicine
subject: 111702 Aged Health Care
subject: FOS: Health sciences

description: Supplemental material, sj-pdf-7-pmj-10.1177_02692163211065278 for Risk factors for delirium in adult patients receiving specialist palliative care: A systematic review and meta-analysis by Imogen Featherstone, Trevor Sheldon, Miriam Johnson, Rebecca Woodhouse, Jason W Boland, Annmarie Hosie, Peter Lawlor, Gregor Russell, Shirley Bush and Najma Siddiqi in Palliative Medicine
sj-docx-1-mdm-10.1177_0272989X211067223 – Supplemental material for Perceived Social Norms Guide Health Care Decisions for Oneself and Others: A Cross-Sectional Experiment in a US Online Panel
Creators: name: Strough, JoNell
name: Stone, Eric R.
name: Parker, Andrew M.
name: Bruine de Bruin, Wändi
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 111708 Health and Community Services
subject: FOS: Health sciences
subject: 111799 Public Health and Health Services not elsewhere classified
subject: 160807 Sociological Methodology and Research Methods
subject: FOS: Sociology

description: Supplemental material, sj-docx-1-mdm-10.1177_0272989X211067223 for Perceived Social Norms Guide Health Care Decisions for Oneself and Others: A Cross-Sectional Experiment in a US Online Panel by JoNell Strough, Eric R. Stone, Andrew M. Parker and Wändi Bruine de Bruin in Medical Decision Making
Additional file 1 of Syndromic ciliopathy: a taiwanese single-center study
Creators: name: Pan, Yu-Wen
name: Ou, Tsung-Ying
name: Chou, Yen-Yin
name: Kuo, Pao-Lin
name: Hsiao, Hui-Pin
name: Chiu, Pao-Chin
name: Lin, Ju-Li
name: Lo, Fu-Sung
name: Wang, Chung-Hsing
name: Chen, Peng-Chieh
name: Tsai, Meng-Che
Publisher: name: figshare
Year: 2024
Subjects: subject: Genetics
subject: FOS: Biological sciences

description: Supplementary Material 1
sj-docx-3-pie-10.1177_09544089211067680 - Supplemental material for Study of the heat transfer and analysis of the surface characteristics of robot spray painting by using Taguchi method and ANOVA analysis
Creators: name: Jakkula, Raja Venkata Sai Kiran
name: Sethuramalingam, Prabhu
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 99999 Engineering not elsewhere classified
subject: FOS: Other engineering and technologies
subject: 91299 Materials Engineering not elsewhere classified
subject: FOS: Materials engineering

description: Supplemental material, sj-docx-3-pie-10.1177_09544089211067680 for Study of the heat transfer and analysis of the surface characteristics of robot spray painting by using Taguchi method and ANOVA analysis by Raja Venkata Sai Kiran Jakkula and Prabhu Sethuramalingam in Proceedings of the Institution of Mechanical Engineers, Part E: Journal of Process Mechanical Engineering
sj-docx-7-pie-10.1177_09544089211067680 - Supplemental material for Study of the heat transfer and analysis of the surface characteristics of robot spray painting by using Taguchi method and ANOVA analysis
Creators: name: Jakkula, Raja Venkata Sai Kiran
name: Sethuramalingam, Prabhu
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 99999 Engineering not elsewhere classified
subject: FOS: Other engineering and technologies
subject: 91299 Materials Engineering not elsewhere classified
subject: FOS: Materials engineering

description: Supplemental material, sj-docx-7-pie-10.1177_09544089211067680 for Study of the heat transfer and analysis of the surface characteristics of robot spray painting by using Taguchi method and ANOVA analysis by Raja Venkata Sai Kiran Jakkula and Prabhu Sethuramalingam in Proceedings of the Institution of Mechanical Engineers, Part E: Journal of Process Mechanical Engineering
sj-pdf-1-prq-10.1177_10659129211040516 – Rejecting Ethnic Pandering in Urban Africa: A Survey Experiment on Voter Preferences in Nairobi, Kenya
Creators: name: Kim, Hye-Sung
name: Horowitz, Jeremy
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 160607 International Relations
subject: FOS: Political science

description: Supplemental Material, sj-pdf-1-prq-10.1177_10659129211040516 for Rejecting Ethnic Pandering in Urban Africa: A Survey Experiment on Voter Preferences in Nairobi, Kenya by Hye-Sung Kim and Jeremy Horowitz in Political Research Quarterly
Pharmacokinetics of dexmedetomidine combined with methadone following oral-transmucosal and intramuscular administration in dogs
Creators: name: Di Cesare, Federica
name: Cagnardi, Petra
name: Gioeni, Daniela
name: D'Urso, Elisa Silvia
name: Rabbogliatti, Vanessa
name: Lucatello, Lorena
name: Merlanti, Roberta
name: Ravasio, Giuliano
name: Villa, Roberto
Publisher: name: International Journal of Health, Animal Science and Food Safety
Year: 2017
Subjects: Dexmedetomidine, methadone, trans-mucosal, pharmacokinetics, dog

description: Oral-transmucosal (OTM) drug delivery refers to noninvasive and painless administration of medical preparations through any oral cavity membrane to achieve systemic effects (Sattar et al., 2014). Regarding sedative drugs, OTM administration is very attractive in veterinary medicine, especially for patients difficult to inject and restrain (Messenger et al., 2016). This study aims to compare the pharmacokinetics of dexmedetomidine after OTM and intramuscular (IM) administration combined with methadone. After obtaining Ethical Committee approval and owner’s written consent, eight dogs, were administered with dexmedetomidine (10 mg/kg) and methadone (0.4 mg/kg) by OTM and other 4 dogs by IM route. Blood samples were collected at prefixed times up to four hours. Dexmedetomidine was quantified by a validated HPLC-MS method. On dexmedetomidine concentrations, a pharmacokinetic analysis was carried out with a noncompartmental approach (Phoenix WinNonlin® 7.0, Pharsight, Cary, NC). Mean ± SD terminal half-lives of dexmedetomidine were 187.42 ± 109.66 and 94.78 ± 34.08 min after OTM and IM administration, respectively. Maximum serum (Cmax) concentrations were 0.83 ± 0.32 and 9.09 ± 2.46 ng/mL for OTM and IM administration, respectively. Time to maximum concentration (Tmax) were 44.38 ± 32.16 and 21.25±11.39 min by OTM and IM administration, respectively. Area under the curve from 0 to the last measured concentration (AUClast) were 103.75 ± 30.23 and 614.87 ± 77.15 min*ng/mL for OTM and IM administration, respectively. Cmax, Tmax and AUClast values by OTM route demonstrate a lower and delayed absorption of the drug compared to IM. To complete the study, the pharmacokinetic analysis of methadone is foreseen, so as a clinical trial to compare the clinical effects of the combination of dexmedetomidine and methadone by OTM and IM administration and to establish an effective dosage of oral-transumucosal route in dogs for this association.
description: International Journal of Health, Animal Science and Food Safety, V. 4, N. 1s (2017)
Effect of pharmacological inhibition of Progesterone receptors PGRMC1 and nPR on bovine oocyte meiosis.
Creators: name: Terzaghi, Laura
name: Luciano, Alberto Maria
name: Fair, Trudee
name: Lodde, Valentina
Publisher: name: International Journal of Health, Animal Science and Food Safety
Year: 2017
Subjects: Mammalian fertility, oocyte, Progesterone, PGRMC1, nPR.

description: Folliculogenesis is the fundamental process leading to oocyte maturation and its developmental competence, which are determined by oocyte and follicular cells interplay (Luciano et al., 2004).

Recent studies in cattle describe Progesterone (P4) as a key molecule acting during follicle development through different signaling pathways involving different receptors (Aparicio et al., 2011, Nilsson et al., 2009). The aim of this study is to evaluate the effect on oocyte meiotic maturation of inhibiting two P4 receptors: Progesterone Receptor Membrane Component 1 (PGRMC1) and the classic nuclear Progesterone Receptor (nPR) respectively using the specific inhibitors AG205 and Aglepristone. Bovine cumulus cell-oocyte complexes (COCs) and denuded oocytes (DOs) were in vitro matured with different concentrations of AG205. Our results showed a decrease both in first polar body (PBI) extrusion and in the percentage of oocytes reaching MII stage in treated oocytes compared to controls (one way ANOVA, P<0.05); these effects were more marked in DOs, confirming PGRMC1 specific role in the oocyte. In AG205 treated oocytes aberrant meiotic figures were observed, including double metaphase plates or DNA scattered in the ooplasm. In addition, aberrant meiotic plates showed irregular co-localization of PGRMC1 and AURKB; the proteins didn’t localize at the centromeric region of each chromosomes as previously described (Luciano et al., 2013). This results suggests a P4 role in meiotic division mediated by PGRMC1 receptor.

By contrast, Aglepristone inhibition of nPR didn’t affect dramatically the percentage of oocytes reaching MII stage of maturation. However, MII plates morphology analysis showed a significantly greater tubulin spindle length. This feature could account for the previously described reduced in vitro embryo development consequent to nPR inhibition (Aparicio et al., 2011). Thus, P4 driven nuclear maturation could act on different oocyte development stages. Further studies are in progress to elucidate P4 complex action in mammalian oocyte function.
description: International Journal of Health, Animal Science and Food Safety, V. 4, N. 1s (2017)
The value of local Italian supply chain of the large wild ungulates meat: the case of the red deer meat in Alpine valleys
Creators: name: Marescotti, Maria Elena
name: Gaviglio, Anna
name: Demartini, Eugenio
Publisher: name: International Journal of Health, Animal Science and Food Safety
Year: 2017
Subjects: Large wild game meat; Short food supply chain; Economic value; Territorial marketing; Sustainable development

description: Currently in Italy, in contrast to other EU countries, a supply chain for hunted game meat does not exist. Nevertheless there are the conditions for its development (Gaviglio et al., 2017); in fact game meat dishes’ has always been part of Alpine area’s culinary tradition and furthermore, management measures aimed at reducing the overpopulation of large wild ungulates leaded to an increase in the availability of their meat.

In this context, the present research aims at analyze the dynamics of the value in the local non-existent supply chain of the large wild game meat by the application on the case study of the Valle Ossola (Piedmont, Italy). Due to its representativeness among Italian wild ungulates, the research focus on red deer meat.

The data has been collected in 2016 through in-depth interviews and focus groups with the stakeholders involved in the supply chain: hunters, transformers and restaurateurs.

Results show that for the hunter the red deer reach a hypothetical price of 6,00 €/kg. From a meat processing targeted at the maximum enhancement of the carcass, without any waste, the transformers can reach a hypothetical price of 9,80 €/kg. Whereas for the restaurateur, the red deer meat can reach a final price range between 22,88 and 51,47 €/kg (hypothesizing maximum sales of high value-added course).

Through the maximization of the meat’s quality, hunter and transformers profits can increase significantly, with a redistribution of the added value throughout the supply chain.

A limitation of this study is that the calculated values does not take into consideration the stakeholders’ production costs (that increasing along the supply chain).

Considering our findings, the development of sustainable supply chain of the local game meat could be economically interesting. Thus, wild ungulates could represent an economic resource for the population rather than an environmental and social cost for the mountain areas.
description: International Journal of Health, Animal Science and Food Safety, V. 4, N. 1s (2017)
Additional file 2 of Syndromic ciliopathy: a taiwanese single-center study
Creators: name: Pan, Yu-Wen
name: Ou, Tsung-Ying
name: Chou, Yen-Yin
name: Kuo, Pao-Lin
name: Hsiao, Hui-Pin
name: Chiu, Pao-Chin
name: Lin, Ju-Li
name: Lo, Fu-Sung
name: Wang, Chung-Hsing
name: Chen, Peng-Chieh
name: Tsai, Meng-Che
Publisher: name: figshare
Year: 2024
Subjects: subject: Genetics
subject: FOS: Biological sciences

description: Supplementary Material 2
sj-docx-1-pss-10.1177_09567976211028984 – Supplemental material for Teacher Mindsets Help Explain Where a Growth-Mindset Intervention Does and Doesn’t Work
Creators: name: Yeager, David S.
name: Carroll, Jamie M.
name: Buontempo, Jenny
name: Cimpian, Andrei
name: Woody, Spencer
name: Crosnoe, Robert
name: Muller, Chandra
name: Murray, Jared
name: Mhatre, Pratik
name: Kersting, Nicole
name: Hulleman, Christopher
name: Kudym, Molly
name: Murphy, Mary
name: Duckworth, Angela Lee
name: Walton, Gregory M.
name: Dweck, Carol S.
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 110904 Neurology and Neuromuscular Diseases
subject: FOS: Clinical medicine
subject: 170199 Psychology not elsewhere classified
subject: FOS: Psychology
subject: 110319 Psychiatry (incl. Psychotherapy)
subject: Neuroscience

description: Supplemental material, sj-docx-1-pss-10.1177_09567976211028984 for Teacher Mindsets Help Explain Where a Growth-Mindset Intervention Does and Doesn’t Work by David S. Yeager, Jamie M. Carroll, Jenny Buontempo, Andrei Cimpian, Spencer Woody, Robert Crosnoe, Chandra Muller, Jared Murray, Pratik Mhatre, Nicole Kersting, Christopher Hulleman, Molly Kudym, Mary Murphy, Angela Lee Duckworth, Gregory M. Walton and Carol S. Dweck in Psychological Science
Performance profiling of Standardbred racehorses by means of Treadmill Exercise Testing
Creators: name: Stucchi, Luca
name: Dosi, Miranda
name: Ferrucci, Francesco
Publisher: name: International Journal of Health, Animal Science and Food Safety
Year: 2017
Subjects: Horse, Standardbred, Treadmill, Lactate, Heart Rate

description: Treadmill exercise testing can be performed on a horse to evaluate the level of fitness with the aim of predicting performance (Franklin and Allen, 2014). The speed at 2 mmol/L of blood lactate (VLA2), the speed at 4 mmol/L (VLA4) and the speed at 200 bpm of heart rate (V200) are indices that have been related to performance (Coroucé et al., 2002). Aim of the present work is to analyze these parameters in a population of high performance Standarbred racehorses.

Six healthy and at the same level of training Standardbred racehorses (average age 3,3±2,0 y.o.) underwent an incremental exercise test (Zucca et al., 2003) on a high speed treadmill (Sӓto I, SATO, Sweden). During the test heart rate (HR) was monitored with a heart rate meter (Polar horsetrainer, Polar, Finland). Venous blood was collected with the aid of a 14G teflon venous catheter placed in the jugular vein. Plasma lactate was measured with enzymatic colorimetric method lactate dry-fast kit for automatic system (Cobas Mira Classic, Roche, Switzerland). Data were analyzed with a dedicated software (Lactate Express, Mesics, Germany) and VLA2, VLA4 and V200 were calculated and statistically compared by T-student test for paired sample (Prism, GraphPad, USA). Statistical significance was set at p<0,05.

Average VLA2 was 8.3±0.5 m/s, average VLA4 was 9.2±0.4 m/s, average V200 was 8.1±0.9. There was a significant difference between VLA4 and V200 (Fig. 1). No difference was observed between VLA2 and V200

V200 is often reported to be close to VLA4, and considered as correspondent to the onset of blood lactate accumulation (Coroucé et al, 2002). According to our results, it may be argued that V200 is a measure that does not fit with the lactate threshold.

These data could be used as control for further studies on racehorses with poor performance syndrome.
description: International Journal of Health, Animal Science and Food Safety, V. 4, N. 1s (2017)
Three Gorges Dam: City and Territory in China
Creators: name: S. Ou, Mariana
Publisher: name: unknown
Year: 2012
Subjects: subject: Twentieth century
subject: Chinese--Social life and customs
subject: Twenty-first century
subject: China

description: Monograph submitted in 2012 as fulfillment of the requirement for the degree of BA in Architecture and Urbanism, University of Sao Paulo.

This work explores the historical, geographical and cultural relationship of China with its waters, and argues that the Three Gorges Dam is a symbolic and physical representation of the continuing Chinese modernity, rather than a product of the recent so-called economic miracle.

In Brazilian Portuguese.
Supplementary document for Real-Time 3D Single-Molecule Localization Microscopy Analysis Using Lookup Tables - 5293401.pdf
Creators: name: Hauser, Fabian
name: Jacak, Jaroslav
Publisher: name: Optica Publishing Group
Year: 2021
Subjects: subject: 60102 Bioinformatics
subject: FOS: Computer and information sciences

description: Supplemental Document
Additional file 3 of Syndromic ciliopathy: a taiwanese single-center study
Creators: name: Pan, Yu-Wen
name: Ou, Tsung-Ying
name: Chou, Yen-Yin
name: Kuo, Pao-Lin
name: Hsiao, Hui-Pin
name: Chiu, Pao-Chin
name: Lin, Ju-Li
name: Lo, Fu-Sung
name: Wang, Chung-Hsing
name: Chen, Peng-Chieh
name: Tsai, Meng-Che
Publisher: name: figshare
Year: 2024
Subjects: subject: Genetics
subject: FOS: Biological sciences

description: Supplementary Material 3
Additional file 1 of Stakeholder perceptions of preventive approaches to rheumatoid arthritis: qualitative study of healthcare professionals’ perspectives on predictive and preventive strategies
Creators: name: Wells, Imogen
name: Simons, Gwenda
name: Kanacherril, Jasin Philip
name: Mallen, Christian D.
name: Raza, Karim
name: Falahee, Marie
Publisher: name: figshare
Year: 2023
Subjects: subject: Medicine
subject: Biotechnology
subject: Ecology
subject: FOS: Biological sciences
subject: Sociology
subject: FOS: Sociology
subject: Biological Sciences not elsewhere classified
subject: Cancer
subject: Science Policy

description: Supplementary Material 1
Der Umgang Mit Dissertationsbezogenen Publikationen Von Forschungsdaten. Ergebnisse Des Edissplus-Projektes.
Creators: name: Kaden, Ben
name: Kleineberg, Michael
name: Lubetzki, Nathalie
name: Walk, Martin
Publisher: name: Zenodo
Year: 2018
Subjects: Forschungsdaten
Dissertationen
Pflichtabgabe
Deutsche Nationalbibliothek
DFG-Projekt
Humboldt-Universität zu Berlin

description: Das DFG-geförderte Projekt "Elektronische Dissertationen Plus" (eDissPlus) beschäftigte sich von Mai 2016 bis April 2018 mit der Frage wie dissertationsbegleitende Forschungsdaten in einem Hochschulrepositorium publiziert und für die Langzeitarchivierung an die Deutsche Nationalbibliothek (DNB) übermittelt werden können. Dafür wurden an der Humboldt-Universität zu Berlin entsprechende Anforderungen ermittelt sowie Desiderate identifiziert (“Erwartungen von Promovierenden”). Am Beispiel des edoc-Servers der HU wurden dann Lösungen entwickelt wie Forschungsdaten und Dissertationsnarrativ miteinander verknüpft und mit Metadaten beschrieben werden können (“Technische Realisierungsmodelle”). Die Deutsche Nationalbibliothek erarbeitete zudem Workflows für die Pflichtablieferung von Dissertationen mit Forschungsdaten, die unter anderem eine Anpassung der Schnittstellen sowie des XMetaDissPlus-Schemas beinhalteten (“Pflichtablieferungsprozess an DNB”). Die Ergebnisse wurden im März und April 2018 in einer Workshop-Reihe präsentiert. Die drei hier publizierten Foliensätze dienten dabei als Präsentationsgrundlage.
description: Die Präsentationsfolien stammen von den drei Vorträgen der eDissPlus Workshop-Reihe, die im Zeitraum vom 15. März bis 25. April 2018 in Berlin, Dresden, Erlangen-Nürnberg, Wuppertal und Köln stattfand.
Additional file 1 of Gut microbial metabolite deoxycholic acid facilitates Th17 differentiation through modulating cholesterol biosynthesis and participates in high-fat diet-associated colonic inflammation
Creators: name: Li, Dan
name: Zhou, Jiefei
name: Wang, Lingyu
name: Gong, Zizhen
name: Le, Huijuan
name: Huang, Ye
name: Xu, Congfeng
name: Tian, Chunyan
name: Cai, Wei
name: Wu, Jin
Publisher: name: figshare
Year: 2023
Subjects: subject: Immunology
subject: FOS: Clinical medicine

description: Additional file 1: Figure S1. Heat map depicting relative mRNA expression of cholesterol metabolism related genes in untreated and DCA-treated CD4+T cells, related to Fig. 3. Figure S2. Western-blot analysis of CYP51 protein expression upon DCA stimulation (uncropped gels), related to Fig. 3.
Supplementary document for Cross-compensation of Zernike aberrations in Gaussian optics - 5302280.pdf
Creators: name: Czuchnowski, Jakub
name: Prevedel, Robert
Publisher: name: Optica Publishing Group
Year: 2021
Subjects: subject: 20501 Classical and Physical Optics
subject: FOS: Physical sciences

description: Full definitions of functions and operators used in our theoretical approach.
Additional file 1 of Correlation of the tumor escape phenotype with loss of PRELP expression in melanoma
Creators: name: Schäfer, Helene
name: Subbarayan, Karthikeyan
name: Massa, Chiara
name: Vaxevanis, Christoforos
name: Mueller, Anja
name: Seliger, Barbara
Publisher: name: figshare
Year: 2024
Subjects: subject: Cell Biology
subject: Genetics
subject: FOS: Biological sciences
subject: Molecular Biology
subject: Immunology
subject: FOS: Clinical medicine
subject: Developmental Biology
subject: Cancer
subject: Infectious Diseases
subject: FOS: Health sciences

description: Additional file 1: Figure S1. PRELP expression in neoplastic and non-neoplastic human tissues and cells. Figure S2. Correlation plot of HLA-A and PRELP in 133 skin cancer cell lines (GENT2—skin cancer cell lines). Figure S3. Reconstitution of PRELP expression in melanoma cells. Overexpression of PRELP in melanoma cell lines was obtained after transfection of a PRELP expression vector in murine and human PRELPlow melanoma cells. Transfection with a mock vector served as control. Figure S4. Distribution of gene mutations of PRELP in melanoma. The Skin Cutaneous Melanoma (TCGA) dataset was analysed for genetic alterations in PRELP. Figure S5. Association between PRELP expression, CD8+ T cell infiltration and activation as well as patients’ survival. Figure S6. A–C. Correlation of PRELPhigh vs. PRELPlow samples with the expression of CCL5 and overall survival. Table S1. Primers used for qPCR analyses. Table S2. Datasets used and number of samples analyzed. Table S3. Correlation of PRELP expression with HLA class I and APM components using two different melanoma datasets. Table S4. Exploring the association between PRELP and immune infiltrates with the clinical outcome in SKCM datasets.
Hingamislihaste halvatustega poliomüeliidihaigete ravikehakultuur respiraatori DP-2 toel
Creators: name: Ugandi, Uno
Publisher: name: Eesti Arst
Year: 2008

description: Eestis vallandus 1958. aasta suvel suur lastehalvatustõve epideemia ligi 1000 haigestunuga. Selle epideemia käigus tekkis Eestis esmakordne võimalus kasutada hingamislihaste halvatustega haigete raviks kunstliku hingamise aparaate. Niisuguseid haigeid oli kokku kolmkümmend. Paranemise ajal oli neil vaja rakendada võimalikult varakult mitmesuguseid ravikehakultuuri võtteid. Seda aga takistas puudulik hingamislihaste jõud. Tolleaegses kirjanduses ei soovitatud aktiivset ravikehakultuuri teha haigetel, kelle kopsude vitaalkapatsiteet oli alla 800 ml. Selliseid haigeid oli meil poliomüeliidi akuutsest perioodist paranejate hulgas kümmekond. Kuigi neil patsientidel oli raskusi hingamisega, võis teiste lihasgruppide jõud olla oluliselt parem.

Eesti Arst 2008;87(11):895−896
description: Eesti Arst, November 2008
The Containment Zone
Creators: name: Tahir, Madiha
Publisher: name: Duke University Press
Year: 2017
Subjects: subject: Anthropology
subject: FOS: Sociology

description: This article discusses the labor on the ground in Pakistan's Tribal Areas that sustains U.S. bombardment of that region. It argues that the relations on the ground co-constitute with the time-space compression of drone warfare.
Supplementary material 5
Creators: name: Benka, Valerie A
name: Boone, John D
name: Miller, Philip S
name: Briggs, Joyce R
name: Anderson, Aaron M
name: Slootmaker, Christopher
name: Slater, Margaret
name: Levy, Julie K
name: Nutter, Felicia B
name: Zawistowski, Stephen
Publisher: name: SAGE Journals
Year: 2022
Subjects: subject: 70706 Veterinary Medicine
subject: FOS: Veterinary sciences

description: Final vs mean population abundance
Eesti Arstide Selts Rootsis: suvepäevad Ahvenamaal
Creators: name: Väärt, Karl
Publisher: name: Eesti Arst
Year: 2008

description: Eesti Arstide Seltsi Rootsis (EASR) tänavused suvepäevad toimusid 29.–31. augustini Ahvenamaal Käringsundis. Paljudele on see paik tuttav Astrid Lindgreni lasteﬁ  lmist „Väike Tjorven, Pootsman ja Mooses“. Idee korraldada suvepäevad just Ahvenamaal
koos eesti kolleegidega Soomest on olnud ammune mõte.

Eesti Arst 2008;87(11):891−892
description: Eesti Arst, November 2008
sj-pdf-1-asu-10.1177_00031348211050842 – Supplemental Material for Risk Factors for Reoperation Following Radical Gastrectomy in Gastric Cancer Patients
Creators: name: Kim, Dong-Hwan
name: Park, Ji-Ho
name: Kim, Tae Han
name: Jung, Eun-Jung
name: Jeong, Chi-Young
name: Ju, Young-Tae
name: Kim, Ju-Yeon
name: Park, Tae-Jin
name: Lee, Young-Joon
name: Jeong, Sang-Ho
Publisher: name: SAGE Journals
Year: 2021
Subjects: subject: 110323 Surgery
subject: FOS: Clinical medicine

description: Supplemental Material, sj-pdf-1-asu-10.1177_00031348211050842 for Risk Factors for Reoperation Following Radical Gastrectomy in Gastric Cancer Patients by Dong-Hwan Kim, Ji-Ho Park, Tae Han Kim, Eun-Jung Jung, Chi-Young Jeong, Young-Tae Ju, Ju-Yeon Kim, Tae-Jin Park, Young-Joon Lee and Sang-Ho Jeong in The American Surgeon
Additional file 1 of Urinary exosome proteins PAK6 and EGFR as noninvasive diagnostic biomarkers of diabetic nephropathy
Creators: name: Li, Tao
name: Liu, Tian ci
name: Liu, Na
name: Li, Meng jie
name: Zhang, Man
Publisher: name: figshare
Year: 2023
Subjects: subject: Biochemistry
subject: Cell Biology
subject: Genetics
subject: FOS: Biological sciences
subject: Chemical Sciences not elsewhere classified
subject: Immunology
subject: FOS: Clinical medicine
subject: Biological Sciences not elsewhere classified
subject: Developmental Biology
subject: Marine Biology
subject: Cancer
subject: Inorganic Chemistry
subject: FOS: Chemical sciences

description: Supplementary Material 1
Esimene kopsusiirdamine Eestis
Creators: name: Sinisalu, Väino
Publisher: name: Eesti Arst
Year: 2010

description: 7. oktoobril 2010 tehti TÜ Kliinikumis esimene kopsusiirdamine Eestis. Patsiendiks oli 61-aastane naine idiopaatilise kopsufibroosi ja pulmonaalhüpertensiooniga. Haige oli raskes seisundis, vajas pidevalt hapnikravi, oli võimeline vaid aeglaselt liikuma toa piires. Maksimaalse konservatiivse ravi võimalused olid ammendatud ja ainsaks võimaluseks patsiendi elu pikendada ja elukvaliteeti parandada oli kopsusiirdamine.

Eesti Arst 2010; 89(12):776−777
description: Eesti Arst, Detsember 2010
Additional file 1 of Sirtuin1, not NAMPT, possesses anti-inflammatory effects in epicardial, pericardial and subcutaneous adipose tissue in patients with CHD
Creators: name: Opstad, Trine Baur
name: Papotti, Bianca
name: Åkra, Sissel
name: Hansen, Charlotte Holst
name: Braathen, Bjørn
name: Tønnessen, Theis
name: Solheim, Svein
name: Seljeflot, Ingebjørg
Publisher: name: figshare
Year: 2024
Subjects: subject: Biochemistry
subject: Medicine
subject: Cell Biology
subject: Genetics
subject: FOS: Biological sciences
subject: Physiology
subject: Immunology
subject: FOS: Clinical medicine
subject: Biological Sciences not elsewhere classified
subject: Developmental Biology
subject: Cancer
subject: Science Policy

description: Additional file 1: Table S1. Correlations of SIRT1 and NAMPT to NLRP3 inflammasome-related markers. Table S2. Correlations of SIRT1 and NAMPT to macrophage polarization markers
Patsiendikaitsest ja arstikindlustusest
Creators: name: Kiivet, Raul-Allan
Publisher: name: Eesti Arst
Year: 2010

description: Käesoleval aastal on Eesti ajakirjanduses toimunud elav arutelu allikakaitse seaduse eelnõu nr 656 teemal, mis võeti Riigikogus vastu 25. novembril esialgsest veidi muudetud kujul (1). Justiitsministri plaan oli seada seadusega sisse mehhanismid meedia korralekutsumiseks ja paketti kuulus kava võlaõigusseaduse kaudu karistusliku kahjuhüvitise sisseseadmiseks Eestis. Karistuslikul kahjuhüvitisel oleks lisaks ajakirjandusele ülisuur mõju kõigile eluvaldkondadele, mistõttu selle põhimõttelise muudatuse vastu Eesti õigusruumis olid nii Riigikohus, Eesti advokatuur kui ka Tartu Ülikooli õigusteaduskond, kuid karistusliku kahjunõude Riigikogu siiski kehtestas. Seetõttu on toimunu väga märgilise tähendusega Eesti ühiskonna arengutele ja väärib nii meenutamist kui ka uute lahenduste otsimist, mis vähendaks motivatsiooni kohtust abi otsida.

Eesti Arst 2010; 89(12):778−780
description: Eesti Arst, Detsember 2010
Kuulmislanguse geneetilised põhjused Eesti lastel ning leitud genotüübi ja fenotüübi omavaheline võrdlus
Creators: name: Teek, Rita
name: Kruustük, Katrin
name: Žordania, Riina
name: Joost, Kairit
name: Reimand, Tiia
name: Oitmaa, Eneli
name: Nelis, Mari
name: Žilina, Olga
name: Kahre, Tiina
name: Tõnisson, Neeme
name: Õunap, Katrin
Publisher: name: Eesti Arst
Year: 2010
Subjects: kuulmislangus, geneetika, GJB2 geen, DNA diagnostika

description: Eesmärk. Selgitada välja kuulmislanguse (KL) geneetilised põhjused Eesti lastel ja kirjeldada nende fenotüüpi.
 Metoodika. Uuringus osales 233 KLiga last, kellele tehti APEX-geenikiibi analüüs 201 erineva mutatsiooni suhtes 8 pärilikku KLi põhjustavas geenis (GJB2, GJB3, GJB6, GJA1, SLC26A4, SLC26A5, 12S-rRNA ja tRNA (Ser) geenid).
 Tulemused. Leidsime 115 patsiendil (49%) GJB2 mutatsiooni vähemalt ühes alleelis, neist 100 lapsel esines vähemalt ühes alleelis mutatsioon c.35delG. 5 patsiendi (2%) KL oli tingitud kaasasündinud tsütomegalovi irusinfektsioonist. Sündroomne KL kinnitati 7 uuritaval. Kogu genoomi genotüpiseerimisplatformi analüüs tehti 28 patsiendile, selle tulemusel leidsime 4 erinevat potentsiaalselt patogeenset deleteerunud kromosoomipiirkonda.
 Järeldused. Kõige sagedasem lapseea KLi põhjustav mutatsioon on c.35delG, mille osakaal KLiga laste hulgas on 75% GJB2 geeni mutatsioonidest. Uuringu tulemusena selgus või täpsustus KLi etioloogias geneetiline faktor 140 patsiendil (60%).

Eesti Arst 2010; 89(12):781−789
description: Eesti Arst, Detsember 2010