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https://www.readbyqxmd.com/read/29331980/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing
#1
Wen-Bin He, Chao-Feng Tu, Qiang Liu, Lan-Lan Meng, Shi-Min Yuan, Ai-Xiang Luo, Fu-Sheng He, Juan Shen, Wen Li, Juan Du, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Li-Qing Fan, Yue-Qiu Tan
BACKGROUND: The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE: To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. METHODS: We performed whole-exome sequencing of DNA from both affected patients. The identified candidate causative gene was further verified by Sanger sequencing for pedigree analysis in this family...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29321240/pigment-dispersing-factor-expressing-neurons-convey-circadian-information-in-the-honey-bee-brain
#2
Katharina Beer, Esther Kolbe, Noa B Kahana, Nadav Yayon, Ron Weiss, Pamela Menegazzi, Guy Bloch, Charlotte Helfrich-Förster
Pigment-Dispersing Factor (PDF) is an important neuropeptide in the brain circadian network of Drosophila and other insects, but its role in bees in which the circadian clock influences complex behaviour is not well understood. We combined high-resolution neuroanatomical characterizations, quantification of PDF levels over the day and brain injections of synthetic PDF peptide to study the role of PDF in the honey bee Apis mellifera We show that PDF co-localizes with the clock protein Period (PER) in a cluster of laterally located neurons and that the widespread arborizations of these PER/PDF neurons are in close vicinity to other PER-positive cells (neurons and glia)...
January 2018: Open Biology
https://www.readbyqxmd.com/read/29316176/effect-of-prandial-treatment-timing-adjustment-based-on-continuous-glucose-monitoring-in-patients-with-type-2-diabetes-uncontrolled-on-once-daily-basal-insulin-a-randomized-phase-iv-study
#3
Jacob Ilany, Hamad Bhandari, Dan Nabriski, Yoel Toledano, Noa Konvalina, Ohad Cohen
OBJECTIVE: To evaluate the glycemic control achieved by prandial once daily insulin glulisine injection timing adjustment based on continuous glucose monitoring sensor in comparison to once daily insulin glulisine injection before breakfast in type 2 diabetes patients uncontrolled on once daily basal insulin glargine. RESEARCH DESIGN AND METHODS: This was a 24-week open-label, randomized-controlled, multicenter trial. At the end of 8 weeks of basal insulin optimization period, patients with HbA1c ≥ 7...
January 8, 2018: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/29310578/a-to-i-rna-editing-in-the-rat-brain-is-age-dependent-region-specific-and-sensitive-to-environmental-stress-across-generations
#4
Hiba Zaidan, Gokul Ramaswami, Yaela N Golumbic, Noa Sher, Assaf Malik, Michal Barak, Dalia Galiani, Nava Dekel, Jin B Li, Inna Gaisler-Salomon
BACKGROUND: Adenosine-to-inosine (A-to-I) RNA editing is an epigenetic modification catalyzed by adenosine deaminases acting on RNA (ADARs), and is especially prevalent in the brain. We used the highly accurate microfluidics-based multiplex PCR sequencing (mmPCR-seq) technique to assess the effects of development and environmental stress on A-to-I editing at 146 pre-selected, conserved sites in the rat prefrontal cortex and amygdala. Furthermore, we asked whether changes in editing can be observed in offspring of stress-exposed rats...
January 8, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29305944/expression-of-zmynd15-in-testes-of-azoospermic-men-and-association-with-sperm-retrieval
#5
Motahare-Sadat Hashemi, Hossein Mozdarani, Kamran Ghaedi, Mohammad Hossein Nasr-Esfahani
OBJECTIVE: To compare the expression levels of ZMYND15 and its target haploid genes (TNP1, PRM1and SPEM1) in testicular samples of non-obstructive azoospermia (NOA) vs. obstructive azoospermia (OA). The level of these transcripts were also compared in azoospermic samples with positive and negative sperm retrieval (SR). METHODS: This study included 63 testis biopsy samples from 16 OA and 47 NOA individuals. Expression levels of these target genes were determined by real-time reverse transcription-polymerase chain reaction using ΔΔCt method...
January 3, 2018: Urology
https://www.readbyqxmd.com/read/29301980/mir-210-and-gpd1l-regulate-edn2-in-primary-and-immortalized-human-granulosa-lutein-cells
#6
Ketan Shrestha, Adepeju Esther Onasanya, Iris Eisenberg, Noa Wigoda, Simcha Yagel, Ronit Yalu, Rina Meidan, Tal Imbar
Endothelin-2 (EDN2), expressed at a narrow window during the periovulatory period, critically affects ovulation and corpus luteum (CL) formation. LH (acting mainly via cAMP) and hypoxia are implicated in CL formation; therefore, we aimed to elucidate how these signals regulate EDN2 using human primary (hGLCs) and immortalized (SVOG) granulosa-lutein cells. The hypoxiamiR, microRNA-210 (miR-210) was identified as a new essential player in EDN2 expression. Hypoxia (either mimetic compound-CoCl2, or low O2) elevated hypoxia inducible factor 1A (HIF1A), miR-210, and EDN2...
January 4, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29298660/adjuvant-stereotactic-fractionated-radiotherapy-to-the-resection-cavity-in-recurrent-glioblastoma-the-gliocave-study-noa-17-aro-2016-3-dktk-rog-trial
#7
Christoph Straube, Hagen Scherb, Jens Gempt, Jan Kirschke, Claus Zimmer, Friederike Schmidt-Graf, Bernhard Meyer, Stephanie E Combs
BACKGROUND: Glioblastoma relapses in the vast majority of cases within 1 year. Maximum safe resection of the recurrent glioblastoma can be offered in some cases. Re-irradiation has been established for the treatment of recurrent glioblastoma, too. In both cases, adjuvant treatment, mostly using temozolomide, can improve PFS and OS after these interventions. However, combining gross tumor resection and adjuvant re-radiotherapy to the resection cavity has not been tested so far. METHODS/DESIGN: In the multicenter two-armed randomized Phase II GlioCave Study, fractionated stereotactic radiotherapy to the resection cavity, after gross tumor resection of recurrent glioblastoma, will be compared to observation...
January 3, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29297053/anatomical-wiring-and-functional-networking-changes-in-the-visual-system-following-optic-neuritis
#8
Yael Backner, Joseph Kuchling, Said Massarwa, Timm Oberwahrenbrock, Carsten Finke, Judith Bellmann-Strobl, Klemens Ruprecht, Alexander U Brandt, Hanna Zimmermann, Noa Raz, Friedemann Paul, Netta Levin
Importance: Clinical outcome in multiple sclerosis was suggested to be driven by not only remyelination but also adaptive reorganization. This mechanism needs to be further understood. Objective: To explore anatomical and functional visual networks in patients with optic neuritis (ON) to assess the relative weight of each connectivity modality to expedite visual recovery. Design, Setting, and Participants: Between March 11, 2011, and May 26, 2014, 39 patients with either clinically isolated syndrome (CIS) ON (n = 18) or other CIS (non-ON) (n = 21) were recruited 1 to 28 months following an initial clinical event...
January 2, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29288412/closed-loop-doluisio-colon-small-intestine-and-single-pass-intestinal-perfusion-colon-jejunum-in-rat-biophysical-model-and-predictions-based-on-caco-2
#9
Isabel Lozoya-Agullo, Isabel Gonzalez-Alvarez, Moran Zur, Noa Fine-Shamir, Yael Cohen, Milica Markovic, Teresa M Garrigues, Arik Dahan, Marta Gonzalez-Alvarez, Matilde Merino-Sanjuán, Marival Bermejo, Alex Avdeef
PURPOSE: The effective rat intestinal permeability (P eff ) was deconvolved using a biophysical model based on parameterized paracellular, aqueous boundary layer, transcellular permeabilities, and the villus-fold surface area expansion factor. METHODS: Four types of rat intestinal perfusion data were considered: single-pass intestinal perfusion (SPIP) in the jejunum (n = 40), and colon (n = 15), closed-loop (Doluisio type) in the small intestine (n = 78), and colon (n = 74)...
December 29, 2017: Pharmaceutical Research
https://www.readbyqxmd.com/read/29276129/selection-for-collective-aggressiveness-favors-social-susceptibility-in-social-spiders
#10
Jonathan N Pruitt, Colin M Wright, James L L Lichtenstein, Gregory T Chism, Brendan L McEwen, Ambika Kamath, Noa Pinter-Wollman
Particularly socially influential individuals are present in many groups [1-8], but it is unclear whether their emergence is determined by their social influence versus the social susceptibility of others [9]. The social spider Stegodyphus dumicola shows regional variation in apparent leader-follower dynamics. We use this variation to evaluate the relative contributions of leader social influence versus follower social susceptibility in driving this social order. Using chimeric colonies that combine potential leaders and followers, we discover that leader-follower dynamics emerge from the site-specific social susceptibility of followers...
December 14, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29259455/human-male-infertility-and-its-genetic-causes
#11
REVIEW
Toshinobu Miyamoto, Gaku Minase, Takeshi Shin, Hiroto Ueda, Hiroshi Okada, Kazuo Sengoku
Background: Infertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the SYCP3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation...
April 2017: Reproductive Medicine and Biology
https://www.readbyqxmd.com/read/29248969/somatic-embryogenesis-of-muskmelon-cucumis-melo-l-and-genetic-stability-assessment-of-regenerants-using-flow-cytometry-and-issr-markers
#12
Mohammad Reza Raji, Mahmoud Lotfi, Masoud Tohidfar, Bahman Zahedi, Angela Carra, Loredana Abbate, Francesco Carimi
A new protocol for in vitro regeneration through direct somatic embryogenesis for two muskmelon cultivars (Cucumis melo L., "Mashhadi" and "Eivanaki") is reported. Somatic embryos were obtained culturing 4- and 8-day-old cotyledons, seeds, and hypocotyls on Murashige and Skoog medium supplemented with three different hormonal combinations never tested so far for melon (naphthoxyacetic acid (NOA) + thidiazuron (TDZ), NOA + 6-banzylaminopurine (BAP), and 2,4-dichlorophenoxyacetic acid (2,4-D) + N-(2-chloro-4-pyridyl)-N'-phenylurea (4-CPPU))...
December 17, 2017: Protoplasma
https://www.readbyqxmd.com/read/29247212/anti-mullerian-hormone-to-testosterone-ratio-is-predictive-of-positive-sperm-retrieval-in-men-with-idiopathic-non-obstructive-azoospermia
#13
Massimo Alfano, Eugenio Ventimiglia, Irene Locatelli, Paolo Capogrosso, Walter Cazzaniga, Filippo Pederzoli, Nicola Frego, Rayan Matloob, Antonino Saccà, Luca Pagliardini, Paola Viganò, Pietro Zerbi, Manuela Nebuloni, Marina Pontillo, Francesco Montorsi, Andrea Salonia
The lack of clinically-reliable biomarkers makes impossible to predict sperm retrieval outcomes at testicular sperm extraction (TESE) in men with non-obstructive azoospermia (NOA), resulting in up to 50% of unnecessary surgical interventions. Clinical data, hormonal profile and histological classification of testis parenchyma from 47 white-Caucasian idiopathic NOA (iNOA) men submitted to microdissection TESE (microTESE) were analyzed. Logistic regression analyses tested potential clinical predictors of positive sperm retrieval...
December 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29246297/distinct-expression-profiles-and-novel-targets-of-micrornas-in-human-spermatogonia-pachytene-spermatocytes-and-round-spermatids-between-oa-patients-and-noa-patients
#14
Chencheng Yao, Qingqing Yuan, Minghui Niu, Hongyong Fu, Fan Zhou, Wenhui Zhang, Hong Wang, Liping Wen, Ligang Wu, Zheng Li, Zuping He
Human spermatogenesis includes three main stages, namely, the mitosis of spermatogonia, meiosis of spermatocytes, and spermiogenesis of spermatids, which are precisely regulated by epigenetic and genetic factors. Abnormality of epigenetic and genetic factors can result in aberrant spermatogenesis and eventual male infertility. However, epigenetic regulators in controlling each stage of normal and abnormal human spermatogenesis remain unknown. Here, we have revealed for the first time the distinct microRNA profiles in human spermatogonia, pachytene spermatocytes, and round spermatids between obstructive azoospermia (OA) patients and non-obstructive azoospermia (NOA) patients...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29243866/the-dual-role-of-mamb-in-magnetosome-membrane-assembly-and-magnetite-biomineralization
#15
René Uebe, Noa Keren-Khadmy, Natalie Zeytuni, Emanuel Katzmann, Yotam Navon, Geula Davidov, Ronit Bitton, Jürgen M Plitzko, Dirk Schüler, Raz Zarivach
Magnetospirillum gryphiswaldense MSR-1 synthesizes membrane-enclosed magnetite (Fe3 O4 ) nanoparticles, magnetosomes, for magnetotaxis. Formation of these organelles involves a complex process comprising key steps which are governed by specific magnetosome-associated proteins. MamB, a cation diffusion facilitator (CDF) family member has been implicated in magnetosome-directed iron transport. However, deletion mutagenesis studies revealed that MamB is essential for the formation of magnetosome membrane vesicles, but its precise role remains elusive...
December 15, 2017: Molecular Microbiology
https://www.readbyqxmd.com/read/29243191/pharmacologically-induced-impairment-of-neurovascular-coupling-responses-alters-gait-coordination-in-mice
#16
Stefano Tarantini, Andriy Yabluchanksiy, Gábor A Fülöp, Peter Hertelendy, M Noa Valcarcel-Ares, Tamas Kiss, Jonathan M Bagwell, Daniel O'Connor, Eszter Farkas, Farzaneh Sorond, Anna Csiszar, Zoltan Ungvari
There is correlative evidence that impaired cerebral blood flow (CBF) regulation, in addition to promoting cognitive impairment, is also associated with alterations in gait and development of falls in elderly people. CBF is adjusted to neuronal activity via neurovascular coupling (NVC) and this mechanism becomes progressively impaired with age. To establish a direct cause-and-effect relationship between impaired NVC and gait abnormalities, we induced neurovascular uncoupling pharmacologically in young C57BL/6 mice by inhibiting the synthesis of vasodilator mediators involved in NVC...
December 14, 2017: GeroScience
https://www.readbyqxmd.com/read/29240438/magnetically-controlled-atomic-plasmonic-fano-resonances
#17
Liron Stern, Meir Grajower, Noa Mazurski, Uriel Levy
Following the efforts of size reduction and integration of light and vapor systems, great promise is held in the integration of vapor and confined electromagnetic waves. By confining light to nanoscale dimensions, fundamental properties of light-vapor interactions may vary significantly. For example, the state of polarization may be modified as compared to weakly focused beams. Specifically, in transverse magnetic modes the existence of a longitudinal field component which is in quadrature to the transverse field, generates a "circularly-like" polarized light...
December 14, 2017: Nano Letters
https://www.readbyqxmd.com/read/29232644/past-15-year-trends-in-lifetime-cocaine-use-among-us-high-school-students
#18
Kristin E Schneider, Noa Krawczyk, Ziming Xuan, Renee M Johnson
BACKGROUND: Most recent research on adolescent drug use has focused on alcohol, tobacco, and marijuana. Less is known about the recent epidemiology of adolescent cocaine use, which has serious health consequences. PURPOSE: To describe recent trends in cocaine use by U.S. high school students, and identify differences in lifetime and repeated use across sex and racial/ethnic groups. METHODS: We used data from the national Youth Risk Behavior Surveys (YRBS) from 1999 to 2015...
December 8, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/29221831/processing-of-implicit-versus-explicit-predictive-contextual-information-in-parkinson-s-disease
#19
Ling Li, Pablo Diaz-Brage, Helena Fernandez-Lago, Noa Fogelson
We investigated the effects of implicit versus explicit local contextual processing in Parkinson's disease (PD) using electrophysiological measures. EEG recording blocks consisted of targets preceded by either randomized sequences of standards or by sequences including a predictive sequence signaling the occurrence of a target event. PD patients ("on" medication) and healthy controls performed two sessions: in the first the regularity of the predictive sequence was implicit, while in the second this regularity was made explicit...
December 5, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/29221535/outcomes-of-global-public-health-training-program-for-us-minority-students-a-case-report
#20
Noa Krawczyk, Luz Claudio
The numbers and success of minority students in science and the health fields remain relatively low. This study presents the outcomes of a research training program as an illustrative case study. The Short-Term Training Program for Minority Students (STPMS) recruits underrepresented minority undergraduate and graduate students for immersion in research training. A total of 69 students participated in the STPMS between 1995 and 2012, and 59 of these completed our survey to determine the perceived impact of the program on the students' motivations and professional development...
May 2017: Annals of Global Health
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