keyword
MENU ▼
Read by QxMD icon Read
search

carrier screening

keyword
https://www.readbyqxmd.com/read/28641093/hematological-parameters-and-red-blood-cell-morphological-abnormality-of-glucose-6-phosphate-dehydrogenase-deficiency-co-inherited-with-thalassemia
#1
Jutharat Pengon, Saovaros Svasti, Sumalee Kamchonwongpaisan, Phantip Vattanaviboon
OBJECTIVE/BACKGROUND: Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and thalassemia are genetically independent hemolytic disorders. Co-inheritance of both disorders may affect red blood cell pathology to a greater extent than normally seen in either disorder alone. This study determines the prevalence and evaluates hematological changes of G-6-PD deficiency and thalassemia co-inheritance. METHODS: G-6-PD deficiency was screened from 200 male thalassemia blood samples using a fluorescent spot test...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#2
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
June 21, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28634145/taeniasis-caused-by-taenia-saginata-in-gianyar-townand-taenia-solium-in-karangasem-villagesof-bali-indonesia-2011-2016-how-to-detect-tapeworm-carriers-anamnesis-or-microscopy
#3
Kadek Swastika, Toni Wandra, Nyoman Sadra Dharmawan, I Made Sudarmaja, John Master Saragih, Luh Putu Eka Diarthini, Luh Ariwati, Putu Ayu Asri Damayanti, Dewa Ayu Agus Sri Laksemi, Nengah Kapti, Putu Sutisna, Tetsuya Yanagida, Akira Ito
From January 2011 until September 2016, screening of taeniasis carriers was carried out in a town in Gianyar District (Taenia saginata) and in villages which consisted of several Banjars (the smallest community units) on the eastern slope of Mt. Agung, Karangasem District (Taenia solium) in Bali, Indonesia. Fecal samples from all community members who chose to participate were examined microscopically for detection of taeniid eggs each person completedwith a questionnaire to determine if they had seen whitish, noodle-like proglottids (anamnesis) in their feces...
June 17, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28633752/rituximab-administration-in-a-patient-with-pemphigus-vulgaris-following-reactivation-of-occult-hepatitis-b-virus-infection
#4
Soheil Tavakolpour, Tahereh Soori, Pedram Noormohammadpour, Kamran Balighi, Hamidreza Mahmoudi, Maryam Daneshpazhooh
Immunosuppressive drugs are the milestone of treatment of autoimmune diseases, but they can lead to serious complications, including hepatitis B virus reactivation in HBV carriers as well as in patients with occult HBV infection (OBI). A 36-year-old man with OBI was diagnosed with pemphigus vulgaris. He was prescribed prednisolone and his hepatitis B surface antigen turned positive. Viral replication was successfully controlled by lamivudine and adefovir. Mycophenolate mofetil and intravenous immunoglobulin  were not effective in controlling the pemphigus vulgaris...
June 20, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633328/identification-and-characterization-of-a-solute-carrier-cia8-involved-in-inorganic-carbon-acclimation-in-chlamydomonas-reinhardtii
#5
Marylou C Machingura, Joanna Bajsa-Hirschel, Susan M Laborde, Joshua B Schwartzenburg, Bratati Mukherjee, Ananya Mukherjee, Steve V Pollock, Britta Förster, G Dean Price, James V Moroney
The supply of inorganic carbon (Ci) at the site of fixation by Rubisco is a key parameter for efficient CO2 fixation in aquatic organisms including the green alga, Chlamydomonas reinhardtii. Chlamydomonas reinhardtii cells, when grown on limiting CO2, have a CO2-concentrating mechanism (CCM) that functions to concentrate CO2 at the site of Rubisco. Proteins thought to be involved in inorganic carbon uptake have been identified and localized to the plasma membrane or chloroplast envelope. However, current CCM models suggest that additional molecular components are involved in Ci uptake...
June 13, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#6
Maria Giulia Minasi, Francesco Fiorentino, Alessandra Ruberti, Anil Biricik, Elisabetta Cursio, Ettore Cotroneo, Maria Teresa Varricchio, Matteo Surdo, Francesca Spinella, Ermanno Greco
STUDY QUESTION: Can simultaneous detection of aneuploidies and genetic diseases or chromosomal aberrations in blastocysts reduce the chance of transferring embryos with low implantation potential, guaranteeing good clinical outcomes? SUMMARY ANSWER: The screening for chromosomal aneuploidies revealed that 50.6% of blastocysts diagnosed free of genetic disease or balanced, were aneuploid, therefore avoiding the transfer of blastocysts potentially resulting in implantation failures, miscarriages, or in some cases, in health affected live births...
June 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28631485/suppression-of-magnetoresistance-in-thin-wte2-flakes-by-surface-oxidation
#7
John M Woods, Jie Shen, Piranavan Kumaravadivel, Yuan Pang, Yujun Xie, Grace A Pan, Min Li, Eric I Altman, Li Lu, Judy J Cha
Recent renewed interest in layered transition metal dichalcogenides stems from the exotic electronic phases predicted and observed in the single- and few-layer limit. Realizing these electronic phases requires preserving the desired transport properties down to a monolayer, which is challenging. Surface oxides are known to impart Fermi level pinning or degrade the mobility on a number of different systems, including transition metal dichalcogenides and black phosphorus. Semimetallic WTe2 exhibits large magnetoresistance due to electron-hole compensation, thus Fermi level pinning in thin WTe2 flakes could break the electron-hole balance and suppress the large magnetoresistance...
June 20, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28627524/screening-for-mutations-in-two-exons-of-fancg-gene-in-pakistani-population
#8
Ujala Aymun, Saima Iram, Iram Aftab, Saba Khaliq, Ali Nadir, Ahmed Nisar, Shahida Mohsin
BACKGROUND: Fanconi anemia is a rare autosomal recessive disorder of genetic instability. It is both molecularly and clinically, a heterogeneous disorder. Its incidence is 1 in 129,000 births and relatively high in some ethnic groups. Sixteen genes have been identified among them mutations in FANCG gene are most common after FANCA and FANCC gene mutations. OBJECTIVE: To study mutations in exon 3 and 4 of FANCG gene in Pakistani population. METHODS: Thirty five patients with positive Diepoxybutane test were included in the study...
June 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28626131/homozygous-duoxa2-mutation-p-tyr138-in-a-girl-with-congenital-hypothyroidism-and-her-apparently-unaffected-brother-case-report-and-review-of-the-literature
#9
Chiho Sugisawa, Shinji Higuchi, Masaki Takagi, Yukihiro Hasegawa, Matsuo Taniyama, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi
Mutations in DUOXA2, encoding dual oxidase maturation factor 2, is a rare genetic cause of congenital hypothyroidism. Only four biallelic DUOXA2 mutation carriers have been described to date. This study was conducted to report the clinical and genetic findings of a DUOXA2 mutation-carrying family, and to review the previously reported cases. The proband was a 4-year-old girl, who was diagnosed as having congenital hypothyroidism in the frame of newborn screening. She had a high serum TSH level (138 mU/L) and a low free T4 level (0...
June 16, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28622698/interactions-between-acyp2-genetic-polymorphisms-and-environment-factors-with-susceptibility-to-ischemic-stroke-in-a-han-chinese-population
#10
Qiong Cheng, Yong-Kun Li, Feng Lu, Lianhua Yin, Yin-Zhou Wang, Wen Wei, Qian Lin
AIMS: To investigate the association of several single nucleotide polymorphisms (SNPs) within ACYP2 gene and additional gene- environment interaction with ischemic stroke (IS) risk in a Chinese population. RESULTS: IS risk was significantly higher in carriers with the G allele of rs11896604 than those with CC genotype (CG or GG versus CC), adjusted OR (95%CI) =1.60 (1.18-2.20), and higher in carriers with the A allele of rs12615793 than those with GG genotype (GA or AA versus GG), adjusted OR (95%CI) = 1...
June 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28621977/photostrictive-two-dimensional-materials-in-the-monochalcogenide-family
#11
Raad Haleoot, Charles Paillard, Thaneshwor P Kaloni, Mehrshad Mehboudi, Bin Xu, L Bellaiche, Salvador Barraza-Lopez
Photostriction is predicted for group-IV monochalcogenide monolayers, two-dimensional ferroelectrics with rectangular unit cells (the lattice vector a_{1} is larger than a_{2}) and an intrinsic dipole moment parallel to a_{1}. Photostriction is found to be related to the structural change induced by a screened electric polarization (i.e., a converse piezoelectric effect) in photoexcited electronic states with either p_{x} or p_{y} (in-plane) orbital symmetry that leads to a compression of a_{1} and a comparatively smaller increase of a_{2} for a reduced unit cell area...
June 2, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28621379/designing-porous-electronic-thin-film-devices-band-offsets-and-heteroepitaxy
#12
Keith T Butler, Christopher H Hendon, Aron Walsh
Increasing numbers of electrically active porous framework materials are being reported, with conductivities that make them attractive for technological applications. As design strategies for efficient carrier transport emerge, the next challenge is to incorporate the materials into a functioning device. In thin-film devices interface effects are of critical importance to overall function. In this article we present a method to identify compatible materials combinations to achieve mechanically robust, electronically optimal pairings...
June 16, 2017: Faraday Discussions
https://www.readbyqxmd.com/read/28620717/multiple-variants-in-families-with-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-related-to-c9orf72-repeat-expansion-further-observations-on-their-oligogenic-nature
#13
Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Annalisa Pession, Patrizia De Massis, Federico Oppi, Michelangelo Stanzani-Maserati, Elena Pasini, Simone Baiardi, Patrizia Avoni, Piero Parchi, Rocco Liguori, Sabina Capellari
The C9orf72 repeat expansion (RE) is one of the most frequent causative mutations of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, it is still unclear how the C9orf72 RE can lead to a heterogeneous phenotype. Several reports have shown the coexistence of mutations in multiple ALS/FTD causative genes in the same family, suggesting an oligogenic etiology for ALS and FTD. Our aim was to investigate this phenomenon in an Italian group of ALS/FTD pedigrees carrying the C9orf72 RE...
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28620067/allele-specific-silencing-of-mutant-mrna-rescues-ultrastructural-and-arrhythmic-phenotype-in-mice-carriers-of-the-r4496c-mutation-in-the-ryanodine-receptor-gene-ryr2
#14
Rossana Bongianino, Marco Denegri, Andrea Mazzanti, Francesco Lodola, Alessandra Vollero, Simona Boncompagni, Silvia Fasciano, Giulia Rizzo, Damiano Mangione, Serena Barbaro, Alessia Di Fonso, Carlo Napolitano, Alberto Auricchio, Feliciano Protasi, Silvia G Priori
Rationale: Mutations in the cardiac Ryanodine Receptor gene (RYR2) cause dominant Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a leading cause of sudden death in apparently healthy individuals exposed to emotions or physical exercise. Objective: We investigated the efficacy of allele specific silencing by RNA interference to prevent CPVT phenotypical manifestations in our dominant CPVT mice model carriers of the heterozygous mutation R4496C in RYR2Methods and Results: We developed an in vitro mRNA and protein-based assays to screen multiple siRNAs for their ability to selectively silence mutant RYR2-R4496C mRNA over the corresponding wild-type (WT) allele...
June 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#15
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28616912/-the-roles-of-glut5-in-imatinib-resistance-in-the-ph-acute-lymphoblastic-leukemia-cell
#16
Tian-You Yan, Duo-Lan Naren, Yu-Ping Gong
OBJECTIVES: To explore the possible roles of glucose transport 5 (Glut5) in imatinib resistance in the Ph(+) acute lymphoblastic leukemia cell (Ph(+) ALL). METHODS: The gene chip technique was used to detect different gene expression between Ph(+) ALL cell line SUP-B15/R (imatinib resistant cell line) and SUP-B15/S (imatinib sensitive cell line), the gene of solute carrier family 2 member 5 (SLC2A5) and its coded protein Glut5 were screened out and were reconfirmed by qPCR and Western blot assay...
May 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28616688/somatic-mutations-of-the-coding-microsatellites-within-the-beta-2-microglobulin-gene-in-mismatch-repair-deficient-colorectal-cancers-and-adenomas
#17
Mark Clendenning, Alvin Huang, Harindra Jayasekara, Marie Lorans, Susan Preston, Neil O'Callaghan, Bernard J Pope, Finlay A Macrae, Ingrid M Winship, Roger L Milne, Graham G Giles, Dallas R English, John L Hopper, Aung K Win, Mark A Jenkins, Melissa C Southey, Christophe Rosty, Daniel D Buchanan
In colorectal cancers (CRCs) with tumour mismatch repair (MMR) deficiency, genes involved in the host immune response that contain microsatellites in their coding regions, including beta-2-microglobulin (B2M), can acquire mutations that may alter the immune response, tumour progression and prognosis. We screened the coding microsatellites within B2M for somatic mutations in MMR-deficient CRCs and adenomas to determine associations with tumour subtypes, clinicopathological features and survival. Incident MMR-deficient CRCs from Australasian Colorectal Cancer Family Registry (ACCFR) and the Melbourne Collaborative Cohort Study participants (n = 144) and 63 adenomas from 41 MMR gene mutation carriers from the ACCFR were screened for somatic mutations within five coding microsatellites of B2M...
June 14, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28616471/methicillin-resistant-staphylococcus-aureus-from-infections-in-horses-in-germany-are-frequent-colonizers-of-veterinarians-but-rare-among-mrsa-from-infections-in-humans
#18
Christiane Cuny, Mohamed M H Abdelbary, Robin Köck, Franziska Layer, Wolfgang Scheidemann, Guido Werner, Wolfgang Witte
A total of 272 methicillin-resistant Staphylococcus aureus (MRSA) from equine infections originating from 17 equine hospitals and 39 veterinary practices in Germany as well as 67 isolates from personnel working at equine clinics were subjected to molecular typing. The majority of isolates from horses was attributed to clonal complex (CC) 398 (82.7%). Within CC398, 66% of isolates belonged to a subpopulation (clade) of CC398, which is associated with equine clinics. MRSA attributed to CC8 (ST254, t009, t036, SCCmecIV; ST8, t064, SCCmecIV) were less frequent (16...
December 2016: One Health
https://www.readbyqxmd.com/read/28613304/programmable-graphene-doping-via-electron-beam-irradiation
#19
Yangbo Zhou, Jakub Jadwiszczak, Darragh Keane, Ying Chen, Dapeng Yu, Hongzhou Zhang
Graphene is a promising candidate to succeed silicon based devices, and the conventional strategies for fabrication and testing of graphene-based electronics often utilise an electron beam. Here, we report on a systematic study of the effect of electron beam exposure on graphene devices. We realise reversible doping of on-chip graphene using a focused electron beam. Our results demonstrate site-specific control of carrier type and concentration achievable by modulating the charge distribution in the substrate...
June 14, 2017: Nanoscale
https://www.readbyqxmd.com/read/28612423/chemiluminescence-selectivity-enhancement-in-the-on-chip-ru-bpy-3-2-system-the-potential-role-of-buffer-type-and-ph-in-the-determination-of-hydrochlorothiazide-in-combined-formulations-and-human-plasma
#20
Afsal Mohammed Kadavilpparampu, Haider A J Al Lawati, Fakhr Eldin O Suliman
A simple and highly selective on-chip Ru(bpy)3(2+) -oxidant chemiluminescence (CL) approach for estimation of a diuretic drug, hydrochlorothiazide (HCZ), in biological fluids was realized in the presence of other fixed-dose combination drugs by manipulating simultaneously the method of active species (Ru(bpy)3(3+) ) production and type of carrier buffer with pH used for the CL reaction. Chemical oxidation processes involved in the Ru(bpy)3(2+) -Ce(IV) CL system have been successfully miniaturised in this study using a microfabricated device to generate Ru(bpy)3(3+) instantaneously...
June 14, 2017: Luminescence: the Journal of Biological and Chemical Luminescence
keyword
keyword
107747
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"