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Martin Poot
The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis...
2018: Methods in Molecular Biology
Elisabeth Paul, Lucien Albert, Badibanga N'Sambuka Bisala, Oriane Bodson, Emmanuel Bonnet, Paul Bossyns, Sandro Colombo, Vincent De Brouwere, Alexandre Dumont, Dieudonné Sèdjro Eclou, Karel Gyselinck, Fatoumata Hane, Bruno Marchal, Remo Meloni, Mathieu Noirhomme, Jean-Pierre Noterman, Gorik Ooms, Oumar Mallé Samb, Freddie Ssengooba, Laurence Touré, Anne-Marie Turcotte-Tremblay, Sara Van Belle, Philippe Vinard, Valéry Ridde
This paper questions the view that performance-based financing (PBF) in the health sector is an effective, efficient and equitable approach to improving the performance of health systems in low-income and middle-income countries (LMICs). PBF was conceived as an open approach adapted to specific country needs, having the potential to foster system-wide reforms. However, as with many strategies and tools, there is a gap between what was planned and what is actually implemented. This paper argues that PBF as it is currently implemented in many contexts does not satisfy the promises...
2018: BMJ Global Health
Panteleimon D Mavroudis, Helen E Hermes, Donato Teutonico, Thomas G Preuss, Sebastian Schneckener
The environmental fates of pharmaceuticals and the effects of crop protection products on non-target species are subjects that are undergoing intense review. Since measuring the concentrations and effects of xenobiotics on all affected species under all conceivable scenarios is not feasible, standard laboratory animals such as rabbits are tested, and the observed adverse effects are translated to focal species for environmental risk assessments. In that respect, mathematical modelling is becoming increasingly important for evaluating the consequences of pesticides in untested scenarios...
2018: PloS One
Daniel Vigneau
For a long time, the legal condition of the child conceived, the embryo or the human fœtus, to use the language of biomedicine, was dominated by two main principles : one, having its roots in Roman law, made it possible to count it, by anticipation, among beings with a legal existence, so as to grant it its rights, as if it was already born (the infans conceptus maxim) : the other, protecting its life in utero, and so its chances of being born, by the penal incrimination of abortion. The legalisation of abortion by the ?Veil? law of 17 January 1975 upset this traditional approach of the law...
March 7, 2018: Journal International de Bioéthique et D'éthique des Sciences
Tatsunori Watanabe, Kotaro Saito, Kazuto Ishida, Shigeo Tanabe, Mitsuya Horiba, Shogo Itamoto, Yoshino Ueki, Ikuo Wada, Ippei Nojima
Start hesitation in patients with Parkinson's disease (PD) occurs predominantly during distractive and conflictual situations. The aim of this study was to investigate how differently an auditory stimulus (AS) influences execution function and execution time during a cognitively demanding stepping task in PD patients as compared to healthy controls. PD patients and healthy controls stepped forward in response to a visual imperative stimulus of an arrow. We applied a Simon task that comprised congruent and incongruent conditions...
March 17, 2018: Neuroscience Letters
Min Zhou, Qunhong Weng, Zakhar I Popov, Yijun Yang, Liubov Yu Antipina, Pavel B Sorokin, Xi Wang, Yoshio Bando, Dmitri Golberg
Electrocatalytic hydrogen evolution reaction (HER) in alkaline solution is hindered by its sluggish kinetics toward water dissociation. Nickel-based catalysts, as low-cost and effective candidates, show great potentials to replace platinum (Pt)-based materials in the alkaline media. The main challenge regarding this type of catalysts is their relatively poor durability. In this work, we conceive and construct a charge-polarized carbon layer derived from carbon quantum dots (CQDs) on Ni3 N nanostructure (Ni3 N@CQDs) surfaces, which simultaneously exhibit durable and enhanced catalytic activity...
March 20, 2018: ACS Nano
Alex M Kasman, Marie E Thoma, Alexander C McLain, Michael L Eisenberg
OBJECTIVE: To determine if regular use of marijuana has an impact on time to pregnancy. DESIGN: Retrospective review of cross-sectional survey data from male and female respondents aged 15-44 years who participated in the 2002, 2006-2010, and 2011-2015 National Survey of Family Growth. SETTING: Not applicable. PARTICIPANT(S): The National Survey of Family Growth is a nationally representative population-based sample derived from stratified multistage area probability sampling of 121 geographic areas in the U...
March 14, 2018: Fertility and Sterility
Pedro Caballero-Campo, Wingka Lin, Rhodel Simbulan, Xiaowei Liu, Sky Feuer, Annemarie Donjacour, Paolo F Rinaudo
In Western society, couples increasingly delay parenthood until later in life. Overall, studies have focused on the reproductive performance of older parents or the impact of advanced maternal age on pregnancy outcomes, but few studies have examined how advanced paternal age (APA) affects offspring health. The aim of this study was to investigate the impact of increasing paternal age on offspring reproductive performance and long-term metabolic health in a mouse model. Here, the same adult B6D2F1/J male mice were mated at 4, 12, and 18 months of age with 6- to 10-week-old naturally cycling CF1 females to generate 3 offspring cohorts conceived at increasing paternal ages PA4, PA12, and PA18...
April 2018: Reproductive Sciences
Max E Valentinuzzi
Education is no doubt the foundation of any healthy society. When it is lacking or substandard in quality, all sorts of misery may arise, from poverty and disease to outright delinquency and destructive (or even self-destructive) behavior. The daily news from all around this troubled world often appalls and frightens us: such atrocious and disgraceful behavior generates a vicious cycle that serves to stir up even greater depravity. It is my contention that most, if not all, of these barbarities could be prevented if more people were provided the opportunity for a well-rounded, thoughtfully conceived education [1]...
March 2018: IEEE Pulse
Tsung-Ching Lin, Liming Hou, Hongqing Liu, Yong Li, Trieu-Kien Truong
The problem of blind image recovery using multiple blurry images of the same scene is addressed in this paper. To perform blind deconvolution, which is also called blind image recovery, the blur kernel and image are represented by groups of sparse domains to exploit the local and nonlocal information such that a novel joint deblurring approach is conceived. In the proposed approach, the group sparse regularization on both the blur kernel and image is provided, where the sparse solution is promoted by -norm...
June 2018: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
Roukaya Al Hammoud, James R Murphy, Norma Pérez
Although transmission of rubella virus within the United States is rare, the risk for imported cases persists. We describe a rubella case in a newborn, conceived in Saudi Arabia, in Texas during 2017, highlighting the importance of active surveillance and early diagnosis of this disease.
April 2018: Emerging Infectious Diseases
Kotaro Ozasa, Eric J Grant, Kazunori Kodama
Cohorts of atomic bomb survivors-including those exposed in utero-and children conceived after parental exposure were established to investigate late health effects of atomic bomb radiation and its transgenerational effects by the Atomic Bomb Casualty Commission (ABCC) in the 1950s. ABCC was reorganized to the Radiation Effects Research Foundation (RERF) in 1975, and all work has been continued at RERF. The Life Span Study, the cohort of survivors, consists of about 120,000 subjects and has been followed since 1950...
March 17, 2018: Journal of Epidemiology
Schmidt Annette, Wolf Markus, Rothmiller Simone, Worek Franz, Steinritz Dirk, Thiermann Horst
BACKGROUND: The cell line HaCaT/SM was developed as a sulfur mustard (SM) resistant cell line from the human keratinocyte cell line HaCaT. This cell line was established to learn more about the effect of SM and possible therapeutic approaches to counteract the cytotoxic effects of SM. The aim of this study was to clarify whether the SM-resistant cell line HaCaT/SM exhibit also resistance to other alkylating agents or cytotoxic drugs with different mechanism of action. MATERIAL AND METHOD: The chemosensitivity of SM-resistant human keratinocyte cell line HaCaT/SM and the original cell line HaCaT were tested using the XTT assay...
March 15, 2018: Toxicology Letters
Elan D Louis, James H Meyers, Ashley D Cristal, Ruby Hickman, Pam Factor-Litvak
BACKGROUND: Endophenotypes are measurable clinical characteristics that may be present in individuals with increased risk for disease (e.g., unaffected family members). Endophenotypes are useful; they may clarify diagnosis in genetic studies and foster the development of animal models. In recent years, problems with balance and mild gait ataxia have been associated with essential tremor (ET). We compared gait and balance of first-degree relatives of ET cases (FD-ET) to that of age-matched controls (Co)...
March 13, 2018: Parkinsonism & related Disorders
Andrea Petronio Rossi, Gianluigi Zaza, Marina Zanardo, Francesco Pedelini, Laura Dalla Verde, Chiara Caletti, Alessia D'Introno, Antonio Lupo, Mauro Zamboni
BACKGROUND: Renal transplant (RTX) recipients seem to experience a better quality of life compared to dialysis patients. However, the factors responsible for this positive effect are not completely defined. Conceivably, a change in the physical performance of these patients could play a role. METHODS: To assess this, we measured: (1) waist circumference, fat mass and appendicular fat-free mass (aFFM) by dual-energy X-ray densitometry, (2) physical performance with the Short Physical Performance Battery, and (3) muscle strength with the handgrip test, in 59 male RTX, 11 chronic kidney disease in conservative treatment (CKD) and 10 peritoneal dialysis (PD) patients...
March 17, 2018: Journal of Nephrology
Maria Pefkianaki, Adele Schneider, Jenina E Capasso, Barry Wasserman, Tanya Bardakjian, Alex V Levin
Heterozygous mutation in the PACS1 (phosphofurin acidic cluster sorting proteins 1) gene is a known cause of developmental delay, multiple congenital anomalies, dysmorphism, and ocular abnormalities. We present the case of an affected 10-year-old girl, conceived by assisted reproductive technology, who has ocular coloboma and findings characteristic of PACS1 mutation.
March 14, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Adriana Maggi, Sara Della Torre
BACKGROUND: Epidemiological and clinical studies have largely demonstrated major differences in the prevalence of metabolic disorders in males and females, but the biological cause of these dissimilarities remain to be elucidated. Mammals are characterized by a major change in reproductive strategies and it is conceivable that these changes subjected females to a significant evolutionary pressure that perfected the coupling between energy metabolism and reproduction. SCOPE OF REVIEW: This review will address the plausibility that female liver functions diverged significantly from males given the role of liver in the control of metabolism...
February 27, 2018: Molecular Metabolism
Junsheng Yang, Zhuangzhuang Zhao, Mingxue Gu, Xinghua Feng, Haoxing Xu
Cells utilize calcium ions (Ca2+ ) to signal almost all aspects of cellular life, ranging from cell proliferation to cell death, in a spatially and temporally regulated manner. A key aspect of this regulation is the compartmentalization of Ca2+ in various cytoplasmic organelles that act as intracellular Ca2+ stores. Whereas Ca2+ release from the large-volume Ca2+ stores, such as the endoplasmic reticulum (ER) and Golgi apparatus, are preferred for signal transduction, Ca2+ release from the small-volume individual vesicular stores that are dispersed throughout the cell, such as lysosomes, may be more useful in local regulation, such as membrane fusion and individualized vesicular movements...
March 16, 2018: Protein & Cell
Sylvia R Kodsi, Sara L Bristow, Joyce E Fox, Avner Hershlag
Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of a child born without Leber congenital amaurosis through preimplantation genetic testing to a couple who had a son with a homozygous mutation in the GUCY2D gene.
March 13, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Daniel L Kuhr, Lindsey A Sjaarda, Zeina Alkhalaf, Ukpebo R Omosigho, Matthew T Connell, Robert M Silver, Keewan Kim, Neil J Perkins, Tiffany L Holland, Torie C Plowden, Enrique F Schisterman, Sunni L Mumford
BACKGROUND: Prior studies have reported mixed results regarding relationships between vitamin D, androgens, and sex hormone binding globulin (SHBG) in patients with polycystic ovary syndrome (PCOS). However, less is known regarding these associations in eumenorrheic, premenopausal women. OBJECTIVE: Our objective was to study the relationships between serum vitamin D and androgen biomarkers in eumenorrheic women with a history of pregnancy loss who were attempting pregnancy...
March 13, 2018: American Journal of Obstetrics and Gynecology
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