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https://www.readbyqxmd.com/read/28734895/a-sensitive-and-convenient-method-for-clinical-detection-of-non-syndromic-hearing-loss-associated-common-mutations
#1
Er-Feng Yuan, Wei Xia, Jing-Tao Huang, Ling Hu, Xing Liao, Xiang Dai, Song-Mei Liu
BACKGROUND: The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2, SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. METHODS: Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28732316/a-user-friendly-technical-set-up-for-infrared-photography-of-forensic-findings
#2
Thomas Rost, Nicole Kalberer, Eva Scheurer
Infrared photography is interesting for a use in forensic science and forensic medicine since it reveals findings that normally are almost invisible to the human eye. Originally, infrared photography has been made possible by the placement of an infrared light transmission filter screwed in front of the camera objective lens. However, this set-up is associated with many drawbacks such as the loss of the autofocus function, the need of an external infrared source, and long exposure times which make the use of a tripod necessary...
July 10, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28732263/proteomic-analysis-of-naturally-occurring-boron-tolerant-plant-gypsophila-sphaerocephala-l-in-response-to-high-boron-concentration
#3
Huseyin Tombuloglu, Guzin Tombuloglu, Mehmet Serdal Sakcali, Ali Turkan, Khalid Rehman Hakeem, Hesham F Alharby, Shah Fahd, Waseem Mohammed Abdul
Gypsophila sphaerocephala is a naturally Boron (B) tolerant species that can grow around the B mining areas in Turkey, where the B concentration in soil reaches a lethal dose for plants (up to ∼8900mgkg(-1) (∼140mM). While its interesting survival capacity in extremely B containing soils, any molecular research has been conducted to understand its high tolerance mechanism yet. In the present study, we have performed a proteomic analysis of this plant to understand its high tolerance towards B-stress. Seedlings of G...
July 4, 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/28732003/-diffuse-type-of-gastric-cancer-adenocarcinoma-in-10-years-old-boy-report-of-a-case
#4
Nery Romero, Ingrid Zegarra, Hugo Delgado
We report a rare case of diffuse type of gastric cancer with signet ring cells in 10 years old boy who was admitted with a 12 months history with weight loss, dysphagia to solids first and to liquids later, anorexia, fatigue, dizziness, vomiting and later, with pain in the left upper quadrant. On examination, he appeared pale, malnourished, with café-au- lait spots over the trunk and extremities. Laboratory tests showed; Hb 7.5 g, albumin 2.62 g, Thevenon positive on stools. Abdominal ultrasound examination showed periaortic masses and diffuse space occupying lesions in the liver...
April 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28724251/concurrent-exposures-to-nonylphenol-bisphenol-a-phthalates-and-organophosphate-pesticides-on-birth-outcomes-a-cohort-study-in-taipei-taiwan
#5
Yu-Fang Huang, Wen-Chi Pan, Yen-An Tsai, Chia-Huang Chang, Pei-Jung Chen, Yi-Shuan Shao, Ming-Song Tsai, Jia-Woei Hou, Chensheng Alex Lu, Mei-Lien Chen
Prenatal exposure to phenols, phthalates (PAEs), and organophosphate (OP) pesticides may increase the risk of abnormal birth outcomes. However, many previous studies have examined exposure to a limited number of chemical classes or exposure profiles limited to a specific stage of pregnancy. This study aims to characterize the concurrent exposure scenario throughout pregnancy by simultaneously monitoring internal doses of several endocrine-disrupting compounds (EDCs), including 2 phenols (nonylphenol (NP) and bisphenol A (BPA)), 9 PAEs, and 6 OP pesticide metabolites and to assess the relationships between concurrent exposure to EDCs and infant birth weight, length, and head and chest circumference...
July 15, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28723892/global-forest-loss-disproportionately-erodes-biodiversity-in-intact-landscapes
#6
Matthew G Betts, Christopher Wolf, William J Ripple, Ben Phalan, Kimberley A Millers, Adam Duarte, Stuart H M Butchart, Taal Levi
Global biodiversity loss is a critical environmental crisis, yet the lack of spatial data on biodiversity threats has hindered conservation strategies. Theory predicts that abrupt biodiversity declines are most likely to occur when habitat availability is reduced to very low levels in the landscape (10-30%). Alternatively, recent evidence indicates that biodiversity is best conserved by minimizing human intrusion into intact and relatively unfragmented landscapes. Here we use recently available forest loss data to test deforestation effects on International Union for Conservation of Nature Red List categories of extinction risk for 19,432 vertebrate species worldwide...
July 19, 2017: Nature
https://www.readbyqxmd.com/read/28723748/clinical-characteristics-and-mutation-spectrum-of-gla-in-korean-patients-with-fabry-disease-by-a-nationwide-survey-underdiagnosis-of-late-onset-phenotype
#7
Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Yoo-Mi Kim, Dae-Seong Kim, Jung Min Ko, Young Bae Sohn, Yong Hee Hong, Dong-Hwan Lee, Hoon Kook, Han Hyuk Lim, Kyung Hee Kim, Woo-Shik Kim, Geu-Ru Hong, Su-Hyun Kim, Sang Hyun Park, Chan-Duck Kim, So Mi Kim, Jeong-Sook Seo, Han-Wook Yoo
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28722075/a-new-route-for-the-synthesis-of-a-ag-nanopore-inlay-nanogap-structure-integrated-ag-core-graphene-shell-ag-jacket-nanoparticles-for-high-efficiency-sers-detection
#8
Hengwei Qiu, Minqiang Wang, Zhi Yang, Shouzhen Jiang, Yanjun Liu, Le Li, Minghui Cao, Junjie Li
We present a new route for the synthesis of Ag nanopore-inlay-nanogap structures using creviced graphene-shell encapsulated Cu nanoparticles (Cu@G-NPs) as the sacrificial templates. The as-synthesized integrated Ag-core@graphene-shell@Ag-jacket nanoparticles (AgC@G@AgJ-NPs) presents "chrysanthemum" shapes that contain abundant sub-10 nm size intraparticle nanopores/nanogaps, which can generate huge enhanced electromagnetic fields to support SERS activity, resulting in an average EF > 10(7) due to a high-density of intraparticle and interparticle "hot spots"...
July 19, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28718293/functional-design-of-dielectric-metal-dielectric-based-thin-film-encapsulation-with-heat-transfer-and-flexibility-for-flexible-displays
#9
Jeong Hyun Kwon, Seungyeop Choi, Yongmin Jeon, Hyuncheol Kim, Ki Soo Chang, Kyung Cheol Choi
In this study, a new and efficient dielectric-metal-dielectric-based thin-film encapsulation (DMD-TFE) with an inserted Ag thin film is proposed to guarantee the reliability of flexible displays by improving the barrier properties, mechanical flexibility, and heat dissipation, considered as essential requirements for OLED encapsulation. The DMD-TFE, which is composed of Al2O3, Ag, and a silica nanoparticle-embedded sol-gel hybrid nanocomposite, shows a water vapor transmission rate of 8.70 × 10-6 g/m2/day and good mechanical reliability at a bending radius of 30 mm corresponding to 0...
July 18, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28717215/spot-variation-fluorescence-correlation-spectroscopy-by-data-post-processing
#10
S M J Khadem, C Hille, H-G Löhmannsröben, I M Sokolov
Spot variation fluorescence correlation spectroscopy (SV-FCS) is a variant of the FCS techniques which may give useful information about the structural organisation of the medium in which the diffusion takes place. We show that the same results can be obtained by post-processing the photon count data from ordinary FCS measurements. By using this method, one obtains the fluorescence autocorrelation functions for sizes of confocal volume, which are effectively smaller than that of the initial FCS measurement...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#11
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28714726/pilot-investigation-of-a-phosphatidylethanol-based-contingency-management-intervention-targeting-alcohol-use
#12
Michael G McDonell, Jordan Skalisky, Emily Leickly, Michael F Orr, Sterling McPherson, John Roll, Nathalie Hill-Kapturczak, Martin Javors
Phosphatidylethanol (PEth) can be detected in blood from 14 to as many as 28 days after alcohol consumption, depending on the amount and frequency of alcohol consumed. PEth may have utility for verifying abstinence in a contingency management (CM) intervention for alcohol use, particularly in settings where frequent verification of abstinence is impossible or impractical. Five nontreatment-seeking heavy drinkers (40% men) participated in an 11-week, ABA-phased within-subject experiment for which they submitted blood spots for PEth measurement, urine samples for ethyl glucuronide (EtG) testing, and self-report drinking data weekly...
July 17, 2017: Psychology of Addictive Behaviors: Journal of the Society of Psychologists in Addictive Behaviors
https://www.readbyqxmd.com/read/28711794/sampling-designs-for-contaminant-temporal-trend-analyses-using-sedentary-species-exemplified-by-the-snails-bellamya-aeruginosa-and-viviparus-viviparus
#13
Ge Yin, Sara Danielsson, Anna-Karin Dahlberg, Yihui Zhou, Yanling Qiu, Elisabeth Nyberg, Anders Bignert
Environmental monitoring typically assumes samples and sampling activities to be representative of the population being studied. Given a limited budget, an appropriate sampling strategy is essential to support detecting temporal trends of contaminants. In the present study, based on real chemical analysis data on polybrominated diphenyl ethers in snails collected from five subsites in Tianmu Lake, computer simulation is performed to evaluate three sampling strategies by the estimation of required sample size, to reach a detection of an annual change of 5% with a statistical power of 80% and 90% with a significant level of 5%...
July 12, 2017: Chemosphere
https://www.readbyqxmd.com/read/28711408/biochemical-characteristics-of-newborns-with-carnitine-transporter-defect-identified-by-newborn-screening-in-california
#14
N M Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, G M Enns, S Packman, H J Lin, W R Wilcox, S D Cederbaum, J E Abdenur
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn carnitine levels can also be caused by conditions unrelated to CTD, such as the low carnitine levels often associated with normal pregnancies and some metabolic disorders occurring in the mother...
July 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28711173/presymptomatic-diagnosis-of-spinal-muscular-atrophy-through-newborn-screening
#15
Yin-Hsiu Chien, Shu-Chuan Chiang, Wen-Chin Weng, Ni-Chung Lee, Ching-Jie Lin, Wu-Shiun Hsieh, Wang-Tso Lee, Yuh-Jyh Jong, Tsang-Ming Ko, Wuh-Liang Hwu
OBJECTIVE: To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS). STUDY DESIGN: We performed a screening trial to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) genotyping assay for the SMN1/SMN2 intron 7 c.888+100A/G polymorphism was performed to detect homozygous SMN1 deletion using dried blood spot (DBS) samples...
July 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28706364/prediction-of-preeclampsia-in-early-pregnancy-by-estimating-the-spot-urinary-albumin-creatinine-ratio
#16
Nupur Gupta, Taru Gupta, Deepti Asthana
OBJECTIVE: To assess whether a spot urinary albumin:creatinine ratio (ACR) measured before 20 weeks of gestation can predict subsequent development of preeclampsia. METHODS: The ACR was determined from midstream urine sample taken between 17 and 20 weeks of gestation. Urine albumin was measured by immunoturbidimetric method using commercially available kit (Beckman Coulter) through Beckman AU 480 fully automated biochemistry analyzer. Urine creatinine was measured by modified kinetic Jaffe reaction without deproteinization...
August 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28702255/diabetes-and-its-drivers-the-largest-epidemic-in-human-history
#17
EDITORIAL
Paul Z Zimmet
The "Diabesity" epidemic (obesity and type 2 diabetes) is likely to be the biggest epidemic in human history. Diabetes has been seriously underrated as a global public health issue and the world can no longer ignore "the rise and rise" of type 2 diabetes. Currently, most of the national and global diabetes estimates come from the IDF Atlas. These estimates have significant limitations from a public health perspective. It is apparent that the IDF have consistently underestimated the global burden. More reliable estimates of the future burden of diabetes are urgently needed...
2017: Clinical Diabetes and Endocrinology
https://www.readbyqxmd.com/read/28702067/quantifying-phenotype-environment-matching-in-the-protected-kerry-spotted-slug-mollusca-gastropoda-using-digital-photography-exposure-to-uv-radiation-determines-cryptic-colour-morphs
#18
Aidan O'Hanlon, Kristina Feeney, Peter Dockery, Michael J Gormally
BACKGROUND: Animal colours and patterns commonly play a role in reducing detection by predators, social signalling or increasing survival in response to some other environmental pressure. Different colour morphs can evolve within populations exposed to different levels of predation or environmental stress and in some cases can arise within the lifetime of an individual as the result of phenotypic plasticity. Skin pigmentation is variable for many terrestrial slugs (Mollusca: Gastropoda), both between and within species...
2017: Frontiers in Zoology
https://www.readbyqxmd.com/read/28699966/proteomic-profile-of-piper-tuberculatum-piperaceae
#19
F Cotinguiba, S N López, I G F Budzinski, C A Labate, M J Kato, M Furlan
Piper tuberculatum (Piperaceae) is a species that accumulates especially amides as secondary metabolites and several biological activities was previously reported. In this article, we report a proteomic study of P. tuberculatum. Bidimensional electrophoresis (2D SDS-PAGE) and mass spectrometry (ESI-Q-TOF) were used in this study. Over a hundred spots and various peptides were identified in this species and the putative functions of these peptides related to defense mechanism as biotic and abiotic stress were assigned...
July 10, 2017: Brazilian Journal of Biology, Revista Brasleira de Biologia
https://www.readbyqxmd.com/read/28699896/eb1-protein-alteration-characterizes-sporadic-but-not-ulcerative-colitis-associated-colorectal-cancer
#20
Timo Gemoll, Sophie L Kollbeck, Karl F Karstens, Gia G Hò, Sonja Hartwig, Sarah Strohkamp, Katharina Schillo, Christoph Thorns, Martina Oberländer, Kathrin Kalies, Stefan Lehr, Jens K Habermann
BACKGROUND: While carcinogenesis in Sporadic Colorectal Cancer (SCC) has been thoroughly studied, less is known about Ulcerative Colitis associated Colorectal Cancer (UCC). This study aimed to identify and validate differentially expressed proteins between clinical samples of SCC and UCC to elucidate new insights of UCC/SCC carcinogenesis and progression. RESULTS: Multiplex-fluorescence two-dimensional gel electrophoresis (2-D DIGE) and mass spectrometry identified 67 proteoforms representing 43 distinct proteins...
July 4, 2017: Oncotarget
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