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https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#1
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448928/potential-environmental-impact-of-bioethanol-production-chain-from-fiber-sorghum-to-be-used-in-passenger-cars
#2
Annachiara Forte, Amalia Zucaro, Massimo Fagnano, Angelo Fierro
A life cycle assessment (LCA) was applied to assess the environmental load of a prospective local bioethanol (EtOH) production system in Southern Italy by using lignocellulosic Fiber sorghum (FS) feedstock. A two steps analysis was carried out considering: (i) a "cradle-to-farm gate" LCA to investigate thoroughly the FS cultivation on hilly marginal land and (ii) a "cradle-to-wheels" system boundary encompassing the environmental pressure of the whole EtOH supply-use chain. Primary data related to lignocellulosic biomass production were combined with experimental feedstock conversion processes through advanced second generation technology...
April 24, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28448847/lactic-acid-fermentation-of-human-urine-to-improve-its-fertilizing-value-and-reduce-odour-emissions
#3
N Andreev, M Ronteltap, B Boincean, M Wernli, E Zubcov, N Bagrin, N Borodin, P N L Lens
During storage of urine, urea is biologically decomposed to ammonia, which can be lost through volatilization and in turn causes significant unpleasant smell. In response, lactic acid fermentation of urine is a cost-effective technique to decrease nitrogen volatilization and reduce odour emissions. Fresh urine (pH = 5.2-5.3 and NH4(+)-N = 1.2-1.3 g L(-1)) was lacto-fermented for 36 days in closed glass jars with a lactic acid bacterial inoculum from sauerkraut juice and compared to untreated, stored urine...
April 24, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28448631/biofortification-se-does-it-increase-the-content-of-phenolic-compounds-in-virgin-olive-oil-voo
#4
Roberto D'Amato, Primo Proietti, Andrea Onofri, Luca Regni, Sonia Esposto, Maurizio Servili, Daniela Businelli, Roberto Selvaggini
Extra-Virgin Olive Oil (EVOO) is a fundamental component of the Mediterranean diet and it may contain several anti-oxidant substances, such as phenols. Previous research has shown that this food may be enriched in phenols by spraying a sodium-selenate solution (100 mg L-1 Se) onto the crop canopy before flowering. The aim of this research was to evaluate the effect of this Se-fertilization before flowering (cv. Leccino) on the phenolic profile of EVOOs, and test to what extent such effects depend on the weather pattern, as observed in two contrasting experimental seasons (2013 and 2014)...
2017: PloS One
https://www.readbyqxmd.com/read/28448621/biochar-from-kon-tiki-flame-curtain-and-other-kilns-effects-of-nutrient-enrichment-and-kiln-type-on-crop-yield-and-soil-chemistry
#5
Naba Raj Pandit, Jan Mulder, Sarah Elisabeth Hale, Hans Peter Schmidt, Gerard Cornelissen
Biochar application to soils has been investigated as a means of improving soil fertility and mitigating climate change through soil carbon sequestration. In the present work, the invasive shrub "Eupatorium adenophorum" was utilized as a sustainable feedstock for making biochar under different pyrolysis conditions in Nepal. Biochar was produced using several different types of kilns; four sub types of flame curtain kilns (deep-cone metal kiln, steel shielded soil pit, conical soil pit and steel small cone), brick-made traditional kiln, traditional earth-mound kiln and top lift up draft (TLUD)...
2017: PloS One
https://www.readbyqxmd.com/read/28448610/characterization-and-expression-analysis-of-galnts-in-developing-strongylocentrotus-purpuratus-embryos
#6
Amber L Famiglietti, Zheng Wei, Thomas M Beres, Adina L Milac, Duy T Tran, Divya Patel, Robert C Angerer, Lynne M Angerer, Lawrence A Tabak
Mucin-type O-glycosylation is a ubiquitous posttranslational modification in which N-Acetylgalactosamine (GalNAc) is added to the hydroxyl group of select serine or threonine residues of a protein by the family of UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferases (GalNAc-Ts; EC 2.4.1.41). Previous studies demonstrate that O-glycosylation plays essential roles in protein function, cell-cell interactions, cell polarity and differentiation in developing mouse and Drosophila embryos. Although this type of protein modification is highly conserved among higher eukaryotes, little is known about this family of enzymes in echinoderms, basal deuterostome relatives of the chordates...
2017: PloS One
https://www.readbyqxmd.com/read/28448510/manure-and-tillage-use-in-remediation-of-eroded-land-and-impacts-on-soil-chemical-properties
#7
Maysoon M Mikha, Joseph G Benjamin, Merle F Vigil, David J Poss
Soil loss through wind and water erosion is an ongoing problem in semiarid regions. A thin layer of top soil loss over a hectare of cropland could be corresponding to tons of productive soil loss per hectare. The objectives of this study were to evaluate the influence of beef feedlot manure, tillage and legume grass mixtures on changes in soil quality and nutrient components. The study was initiated in 2006 on an eroded site near Akron, Colorado, on a Norka-Colby very-fine sandy loam (fine-silty, mixed, mesic, Aridic, Argiustolls)...
2017: PloS One
https://www.readbyqxmd.com/read/28448277/long-term-consequences-of-obesity-on-female-fertility-and-the-health-of-the-offspring
#8
Suchitra Chandrasekaran, Genevieve Neal-Perry
PURPOSE OF REVIEW: Obesity has reached near epidemic levels among reproductive age women with a myriad of consequences. Obesity adversely affects the maternal milieu by creating conditions that decrease fertility and increase the risk of gestational diabetes, hypertensive disease in pregnancy, fetal growth abnormalities and congenital anomalies. The effects of obesity are not limited to pregnancy. Indeed, beyond the immediate postpartum period, obese women maintain a higher prevalence of insulin resistance and cardiovascular disease...
April 26, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28448168/management-of-textile-wastewater-for-improving-growth-and-yield-of-field-mustard-brassica-campestris-l
#9
Muhammad Yaseen, Muhammad Zahir Aziz, Aqleema Komal, Muhammad Naveed
Disposal of industrial wastewater is a current issue of urbanization. However, this problem can be sorted by using wastewater as alternate source of irrigation after the addition of some amendment. In this way, the problem of disposal of wastewater not only will be resolved but also scarcity of irrigation water can be kept off in future. Current research study was performed to evaluate the influence of different concentration of wastewater along with canal water for enhancing growth and yield of field mustard...
April 27, 2017: International Journal of Phytoremediation
https://www.readbyqxmd.com/read/28447502/the-effect-of-endometrial-injury-on-implantation-and-clinical-pregnancy-rates
#10
Dan Levin, Joseph Hasson, Aviad Cohen, Yuval Or, Baris Ata, Lilia Barzilay, Benny Almog
AIM: To assess the effect of endometrial scratching (ES) on in vitro fertilization-embryo transfer outcome (IVF-ET) Materials and methods: Retrospective matched case control study including all fresh IVF cycles performed between January 2006 and December 2012 at an academic IVF center. ES with an endometrial biopsy catheter was performed in the cycle preceding the index IVF cycle. Patients (n = 238) were pair matched with controls according to age, number of previous failed IVF cycles and number of embryos transferred...
April 27, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28447499/is-pre-implantation-genetic-diagnosis-pgd-more-of-a-strain-regarding-satisfaction-with-marital-quality-for-male-or-female-partners-a-three-year-follow-up-study
#11
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
INTRODUCTION: Men and women with a hereditary genetic disease are faced with different options when they plan to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focuses on how men and women planning for PGD experience the quality of marital satisfaction when they apply for treatment and again, three years later. METHODS: The study was a prospective cohort study where all couples (n = 22) applying for PGD during 2010 and 2011 were eligible...
April 27, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28447445/myomectomy-technique-and-current-indications
#12
Hajanirina Rakotomahenina, José Rajaonarison, Lufee Wong, Jean-Luc Brun
BACKGROUND: Uterine fibroids are the commonest benign tumor of the female genital tract. They affect a significant proportion of reproductive aged women and may cause excessive menstrual bleeding, pelvic pain or pressure, and adversely affect reproductive outcomes. However, many women remain asymptomatic. Fibroids are the first indication for hysterectomy, but myomectomy is the most suitable surgical option for women who desire preservation of their fertility potential. Only a selected group of women of childbearing age will benefit from a myomectomy, as the consequences of myomectomy on reproductive function have remained controversial...
April 26, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28447444/maternal-thyroid-function-in-women-undergoing-controlled-ovarian-hyperstimulation-during-in-vitro-fertilization-and-its-relation-to-reproductive-outcome
#13
Abdul K Abdul Karim, Muhammad Azrai Abu, Buvanes Chelliah, Zainul R Mohd Razi, Mohd H Omar, Hanita Othman, Zuraidah C Man
BACKGROUND: We conducted a study to evaluate the changes in thyroid function during Controlled Ovarian Hyperstimulation (COH) and its association with the outcome of assisted reproductive technique (ART). METHODS: This is a prospective cohort study done in University Hospital Fertility clinic for one year duration. A total of eighty eight euthyroid women who underwent COH as part of planned in vitro fertilization were invited to participate in this study. Serum thyroid function of each women will be monitored before stimulation (T1), day 10 -13 of cycle (T2), during oocyte retrieval (T3), one week following embryo transfer (T4) and at four weeks post embryo transfer(T5)...
April 26, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28447381/land-use-influences-phosphatase-gene-microdiversity-in-soils
#14
Andrew L Neal, Maike Rossmann, Charles Brearley, Elsy Akkari, Cervin Guyomar, Ian M Clark, Elisa Allen, Penny R Hirsch
Phosphorus cycling exerts significant influence upon soil fertility and productivity - processes largely controlled by microbial activity. We adopted phenotypic and metagenomic approaches to investigate phosphatase genes within soils. Microbial communities in bare fallowed soil showed a marked capacity to utilise phytate for growth compared to arable or grassland soil communities. Bare fallowed soil contained lowest concentrations of orthophosphate. Analysis of metagenomes indicated phoA, phoD and phoX, and histidine acid and cysteine phytase genes were most abundant in grassland soil which contained the greatest amount of NaOH-EDTA extractable orthophosphate...
April 26, 2017: Environmental Microbiology
https://www.readbyqxmd.com/read/28447100/f7-gene-variants-modulate-protein-levels-in-a-large-cohort-of-patients-with-factor-vii-deficiency-results-from-a-genotype-phenotype-study
#15
Gabriele Quintavalle, Federica Riccardi, Gianna Franca Rivolta, Davide Martorana, Caterina Di Perna, Antonio Percesepe, Annarita Tagliaferri
Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores...
April 27, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28446915/pruning-system-and-foliar-application-of-mgso-4-alter-yield-and-secondary-metabolite-profile-of-rosa-damascena-under-rainfed-acidic-conditions
#16
Probir K Pal, Mitali Mahajan
Damask rose (Rosa damascena Mill.) is one of the most high-value essential oil-bearing plants in the world. However, the flower yield and quality of essential oil of R. damascena are largely influenced by the pruning practices and balanced supply of plant nutrition. The objective of this study was to test the hypothesis whether the pruning system and foliar fertilization of MgSO4 would influence the flower yield, growth and secondary metabolites profile of R. damascena. A field experiment of 10 treatment combinations comprising two pruning systems (complete and partial) and five levels of MgSO4 (water spray, MgSO4 @ 5...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28446904/dynamic-response-of-ammonia-oxidizers-to-four-fertilization-regimes-across-a-wheat-rice-rotation-system
#17
Jichen Wang, Lei Ni, Yang Song, Geoff Rhodes, Jing Li, Qiwei Huang, Qirong Shen
Ammonia oxidation by microorganisms is a rate-limiting step of the nitrification process and determines the efficiency of fertilizer utilized by crops. Little is known about the dynamic response of ammonia-oxidizers to different fertilization regimes in a wheat-rice rotation system. Here, we examined ammonia-oxidizing bacteria (AOB) and archaea (AOA) communities across eight representative stages of wheat and rice growth and under four fertilization regimes: no nitrogen fertilization (NNF), chemical fertilization (CF), organic-inorganic mixed fertilizer (OIMF) and organic fertilization (OF)...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28446721/senp3-grants-tight-junction-integrity-and-cytoskeleton-architecture-in-mouse-sertoli-cells
#18
Di Wu, Chun-Jie Huang, Faheem Ahmed Khan, Xiao-Fei Jiao, Xiao-Ming Liu, Nuruliarizki Shinta Pandupuspitasari, Rahim Dad Brohi, Li-Jun Huo
Germ cells develop in a sophisticated immune privileged microenvironment provided by specialized junctions contiguous the basement membrane of the adjacent Sertoli cells that constituted the blood-testis barrier (BTB) in seminiferous epithelium of testis in mammals. Deciphering the molecular regulatory machinery of BTB activity is central to improve male fertility and the role of post-translational modification including SUMOylation pathway is one of the key factors. Herein, we unveiled the mystery of the SUMO-2/3 specific protease SENP3 (Sentrin-specific protease 3) in BTB dynamics regulation...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28446190/recognition-of-plasmodium-falciparum-mature-gametocyte-infected-erythrocytes-by-antibodies-of-semi-immune-adults-and-malaria-exposed-children-from-gabon
#19
Tamirat Gebru, Anthony Ajua, Michael Theisen, Meral Esen, Ulysse Ateba Ngoa, Saadou Issifou, Ayola A Adegnika, Peter G Kremsner, Benjamin Mordmüller, Jana Held
BACKGROUND: Transmission of malaria from man to mosquito depends on the presence of gametocytes, the sexual stage of Plasmodium parasites in the infected host. Naturally acquired antibodies against gametocytes exist and may play a role in controlling transmission by limiting the gametocyte development in the circulation or by interrupting gamete development and fertilization in the mosquito following ingestion. So far, most studies on antibody responses to sexual stage antigens have focused on a subset of gametocyte-surface antigens, even though inhibitory Ab responses to other gametocyte antigens might also play a role in controlling gametocyte density and fertility...
April 26, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28445964/abo-blood-group-and-ovarian-reserve-a-meta-analysis-and-systematic-review
#20
Jie Deng, Mengmeng Jia, Xiaolin Cheng, Zhen Yan, Dongmei Fan, Xiaoyu Tian
Ovarian reserve reflects a woman's fertility potential. The ABO blood group system is a very stable genetic marker. Although many recent studies have explored the relationship between ABO blood group and ovarian reserve, a consensus has not yet been reached. This paper is the first meta-analysis and systematic review of the relationship between ABO blood type and ovarian reserve. We analyzed seven cross-sectional studies evaluating follicle stimulating hormone (FSH) or anti-Mullerian hormone (AMH) levels in 55,113 participants to determine ovarian reserve...
April 11, 2017: Oncotarget
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