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https://www.readbyqxmd.com/read/29350304/defective-mitochondrial-atpase-due-to-rare-mtdna-m-8969g-a-mutation-causing-lactic-acidosis-intellectual-disability-and-poor-growth
#1
Pirjo Isohanni, Christopher J Carroll, Christopher B Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen
Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G>A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. We present two siblings with the m.8969G>A mutation and a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability...
January 19, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29349269/fertility-behaviors-in-south-korea-and-their-association-with-ultrasound-prenatal-sex-screening
#2
Jinkook Lee, James P Smith
Imbalances in the sex ratio at birth in Southeast and East Asia increased especially after the mid-1980s. We study how ultrasonic technology affected sex ratios at birth in South Korea, a country with a strong son preference. Between 1985 and 1995 fetal screenings and abortion services were widely available, though not available in the years before, and prohibited in the years after. Using the 1985, 1995, and 2005 Census microdata, we examine changes in sex ratios of newborns by birth year. We then study periodic effects on the fertility stopping rule, using the 2006 Korean Longitudinal Study of Aging, which provides birth years for all children...
April 2018: SSM—Population Health
https://www.readbyqxmd.com/read/29349216/family-of-origin-and-educational-inequalities-in-mortality-results-from-1-7-million-swedish-siblings
#3
Laust H Mortensen, Jenny Torssander
Circumstances in the family of origin have short- and long-term consequences for people's health. Family background also influences educational achievements - achievements that are clearly linked to various health outcomes. Utilizing population register data, we compared Swedish siblings with different levels of education (1,732,119 individuals within 662,095 sibships) born between 1934 and 1959 and followed their death records until the end of 2012 (167,932 deaths). The educational gradient in all-cause mortality was lower within sibships than in the population as a whole, an attenuation that was strongest at younger ages (< 50 years of age) and for those with a working class or farmer background...
December 2017: SSM—Population Health
https://www.readbyqxmd.com/read/29349038/abnormal-neural-hierarchy-in-processing-of-verbal-information-in-patients-with-schizophrenia
#4
Yulia Lerner, Maya Bleich-Cohen, Shimrit Solnik-Knirsh, Galit Yogev-Seligmann, Tamir Eisenstein, Waheed Madah, Alon Shamir, Talma Hendler, Ilana Kremer
Previous research indicates abnormal comprehension of verbal information in patients with schizophrenia. Yet the neural mechanism underlying the breakdown of verbal information processing in schizophrenia is poorly understood. Imaging studies in healthy populations have shown a network of brain areas involved in hierarchical processing of verbal information over time. Here, we identified critical aspects of this hierarchy, examining patients with schizophrenia. Using functional magnetic resonance imaging, we examined various levels of information comprehension elicited by naturally presented verbal stimuli; from a set of randomly shuffled words to an intact story...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29346449/within-host-selection-for-faster-replicating-bacterial-symbionts
#5
Ewa Chrostek, Luis Teixeira
Wolbachia is a widespread, intracellular symbiont of arthropods, able to induce reproductive distortions and antiviral protection in insects. Wolbachia can also be pathogenic, as is the case with wMelPop, a virulent variant of the endosymbiont of Drosophila melanogaster. An extensive genomic amplification of the 20kb region encompassing eight Wolbachia genes, called Octomom, is responsible for wMelPop virulence. The Octomom copy number in wMelPop can be highly variable between individual D. melanogaster flies, even when comparing siblings arising from a single female...
2018: PloS One
https://www.readbyqxmd.com/read/29346409/prediction-of-absolute-risk-of-acute-graft-versus-host-disease-following-hematopoietic-cell-transplantation
#6
Catherine Lee, Sebastien Haneuse, Hai-Lin Wang, Sherri Rose, Stephen R Spellman, Michael Verneris, Katharine C Hsu, Katharina Fleischhauer, Stephanie J Lee, Reza Abdi
Allogeneic hematopoietic cell transplantation (HCT) is the treatment of choice for a variety of hematologic malignancies and disorders. Unfortunately, acute graft-versus-host disease (GVHD) is a frequent complication of HCT. While substantial research has identified clinical, genetic and proteomic risk factors for acute GVHD, few studies have sought to develop risk prediction tools that quantify absolute risk. Such tools would be useful for: optimizing donor selection; guiding GVHD prophylaxis, post-transplant treatment and monitoring strategies; and, recruitment of patients into clinical trials...
2018: PloS One
https://www.readbyqxmd.com/read/29346069/the-prevalence-and-influencing-factors-for-child-neglect-in-a-rural-area-of-anhui-province-a-2-year-follow-up-study
#7
F Zhao, L Bi, M-C Chen, Y-L Wu, Y-H Sun
OBJECTIVES: The purpose of the current study was to identify the change of prevalence and influencing factors for child neglect in a rural area of Anhui province through the 2-year follow-up study. STUDY DESIGN: Longitudinal study with 2-year follow-up. METHODS: Analyses were based on data from a longitudinal study, performed in five elementary schools and three secondary schools in Changfeng County. A total of 816 children aged between 7 and 16 years completed the three assessments during the period of 2009-2011...
January 12, 2018: Public Health
https://www.readbyqxmd.com/read/29346036/genetics-the-rearing-environment-and-the-intergenerational-transmission-of-divorce-a-swedish-national-adoption-study
#8
Jessica E Salvatore, Sara Larsson Lönn, Jan Sundquist, Kristina Sundquist, Kenneth S Kendler
We used classical and extended adoption designs in Swedish registries to disentangle genetic and rearing-environment influences on the intergenerational transmission of divorce. In classical adoption analyses, adoptees ( n = 19,715) resembled their biological parents, rather than their adoptive parents, in their history of divorce. In extended adoption analyses, offspring ( n = 82,698) resembled their not-lived-with fathers and their lived-with mothers. There was stronger resemblance to lived-with mothers, providing indirect evidence of rearing-environment influences on the intergenerational transmission of divorce...
January 1, 2018: Psychological Science
https://www.readbyqxmd.com/read/29345602/the-mental-health-of-adolescents-and-pre-adolescents-living-with-inherited-arrhythmia-syndromes-a-systematic-review-of-the-literature
#9
Patricia E Longmuir, Margaret Sampson, Jennifer Ham, Makenzie Weekes, Bhavika J Patel, Robert M Gow
Potentially fatal arrhythmias add to the mental health challenges of adolescence. This systematic review sought to summarise current knowledge regarding the mental health of adolescents and pre-adolescents diagnosed with inherited arrhythmia syndromes. Searches combining psychological problems with inherited cardiac arrhythmia diagnoses identified 16 studies with paediatric (<18 years) inherited arrhythmia patients. All studies were cross-sectional; 8/16 required an implantable cardioverter defibrillator...
January 18, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29345177/prognostic-significance-of-cathepsin-l-expression-in-pediatric-acute-myeloid-leukemia
#10
Garima Pandey, Sameer Bakhshi, Bhaskar Thakur, Prerna Jain, Shyam S Chauhan
Overexpression of cathepsin L (CTSL), an endolysosomal cysteine protease, is associated with inferior survival of patients with various human malignancies. We evaluated the expression/activity of CTSL in peripheral blood mononuclear cells (PBMCs) and bone marrow mononuclear cells (BMMCs) of 103 pediatric acute myeloid leukemia (AML) patients to assess its prognostic significance in this malignancy. Thirty-five healthy siblings of patients served as controls. Our results revealed significantly higher CTSL activity (p < ...
January 18, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29344986/evaluation-of-bowel-function-in-healthy-children-untreated-constipation-is-common
#11
Helena Lindgren, Malin Carvalho Nejstgaard, Martin Salö, Pernilla Stenström
AIM: We evaluated bowel function in healthy children with regard to gender and age. METHODS: The study was carried out in 2016 at a tertiary children's hospital. Healthy children aged 3.5-15 years old who were admitted to the hospital, siblings to patients, or offspring of staff members were included. Validated self-report questionnaires, and internally developed questions regarding obstructive outlet- and gas-related symptoms were used. RESULTS: A total of 310 participants (50% girls) were included, which corresponded to a 94% answer frequency...
January 18, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29343954/exposure-to-environmental-tobacco-smoke-from-husband-more-strongly-impacts-on-the-airway-obstruction-of-nonsmoking-women
#12
Kazuaki Suyama, Ryo Kozu, Takako Tanaka, Yuji Ishimatsu, Terumitsu Sawai
Background: The impact of airway obstruction of nonsmoking women caused by their husband's smoking is unclear, despite the association between environmental tobacco smoke (ETS) exposure at home and obstructive pulmonary diseases among nonsmoking women. The aim of this study was to provide evidence that ETS exposure from the husband at home has a more significant influence on the airway obstruction of nonsmoking women than other housemates. Participants and methods: Nonsmoking women aged 40 years or older were recruited from the health checkup during May 2015-December 2016, Japan...
2018: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29343799/publisher-correction-bacillus-seva-siblings-a-golden-gate-based-toolbox-to-create-personalized-integrative-vectors-for-bacillus-subtilis
#13
Jara Radeck, Daniel Meyer, Nina Lautenschläger, Thorsten Mascher
A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29342157/timing-of-maternal-death-levels-trends-and-ecological-correlates-using-sibling-data-from-34-sub-saharan-african-countries
#14
Leena Merdad, Mohamed M Ali
Millennium Development Goal 5 has not been universally achieved, particularly in sub-Saharan Africa. Understanding whether maternal deaths occur during pregnancy, childbirth, or puerperium is important to effectively plan maternal health programs and allocate resources. Our main research objectives are to (1) describe the proportions and rates of mortality for the antepartum, intrapartum, and postpartum periods; (2) document how these trends vary by sub-region; and (3) investigate ecological correlations between these rates and maternal care interventions...
2018: PloS One
https://www.readbyqxmd.com/read/29341603/pokmt1-from-the-polyketomycin-biosynthetic-machinery-of-streptomyces-diastatochromogenes-t%C3%A3-6028-belongs-to-the-emerging-family-of-c-methyltransferases-that-act-on-coa-activated-aromatic-substrates
#15
Xun Guo, Ivana Crnovcic, Chin-Yuan Chang, Jun Luo, Jeremy R Lohman, Monica Papinski, Andreas Bechthold, Geoffrey P Horsman, Ben Shen
Recent biochemical characterizations of the MdpB2 CoA ligase and MdpB1 C-methyltransferase (C-MT) from the maduropeptin (MDP, 2) biosynthetic machinery revealed unusual pathway logic involving C-methylation occurring on a CoA-activated aromatic substrate. Here we confirmed this pathway logic for the biosynthesis of polyketomycin (POK, 3). Biochemical characterization unambiguously established that PokM3 and PokMT1 catalyze the sequential conversion of 6-methylsalicylic acid (6-MSA, 4) to form 3,6-dimethylsalicylyl-CoA (3,6-DMSA-CoA, 6), which serves as the direct precursor for the 3,6-dimethylsalicylic acid (3,6-DMSA) moiety in the biosynthesis of 3...
January 17, 2018: Biochemistry
https://www.readbyqxmd.com/read/29340904/turkish-women-s-knowledge-attitudes-and-behaviors-on-wet-nursing-milk-sharing-and-human-milk-banking
#16
Ahmet Ergin, S Utku Uzun
Purpose The aim of this study was to determine Turkish women's knowledge, attitudes, and behaviors on wet-nursing, milk sharing, and human milk banking in a primary care setting located in a semi-rural area. Description Donated human milk is a feasible option for feeding infants and children. Currently, there is a debate on the topic starts with the preparations to launch a human milk bank in a large city in Turkey. Several previous papers reported women's opinions in large hospital based studies. Little is known about women's views and practice on donated human milk in the rural areas of Turkey...
January 16, 2018: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/29340784/a-new-flesh-fly-species-diptera-sarcophagidae-parasitic-on-leptodactylid-frogs
#17
Pablo Ricardo Mulieri, Eduardo Federico Schaefer, Marta Inés Duré, Cynthya Elizabeth González
Here we describe a new species of sarcophagid fly reared from larvae found feeding on three species of leptodactylid frogs collected in subtropical Corrientes Province in northeastern Argentina. Our species description is based on adult male and female external morphology and genitalia. Adult males and females of the new species were associated with certainty because all specimens studied were reared from single clutches of larvae on each of three infested frogs. Thus, adult males and females reared from each clutch were siblings that emerged almost simultaneously...
January 17, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29338081/nonsurgical-premature-menopause-and-reproductive-implications-in-survivors-of-childhood-cancer-a-report-from-the-childhood-cancer-survivor-study
#18
Jennifer M Levine, John A Whitton, Jill P Ginsberg, Daniel M Green, Wendy M Leisenring, Marilyn Stovall, Leslie L Robison, Gregory T Armstrong, Charles A Sklar
BACKGROUND: Survivors of childhood cancer are at risk of nonsurgical premature menopause (NSPM). To the authors' knowledge, risk factors for NSPM and its impact on reproduction remain poorly defined. METHODS: The menopausal status of 2930 survivors diagnosed between 1970 and 1986 (median age, 6 years [range, birth-20 years]) who were aged > 18 years at the time of the current study (median age, 35 years [range, 18-58 years]) was compared with 1399 siblings...
January 16, 2018: Cancer
https://www.readbyqxmd.com/read/29337188/abrogation-of-fam20c-altered-cell-behaviors-and-bmp-signaling-of-immortalized-dental-mesenchymal-cells
#19
Chao Liu, Nan Zhou, Yu Wang, Hua Zhang, Priyam Jani, Xiaofang Wang, Yongbo Lu, Nan Li, Jing Xiao, Chunlin Qin
FAM20C mutations compromise the mineralization of skeleton and tooth in both human and mouse. Putatively, the mineralization disorder is attributed to the elevated fibroblast growth factor 23 (FGF23), which reduced the serum phosphorus by suppressing the reabsorption of phosphorus in kidney. Besides the regulation on systemic phosphorus homeostasis, FAM20C was also implicated to regulate cell behaviors and gene expression through a cell-autonomous manner. To identify the primary effects of Fam20c on dental mesenchymal cells, mouse Fam20c-deficient dental mesenchymal cells were generated by removing the floxed alleles from the immortalized mouse Fam20cf/f dental mesenchymal cells with Cre-expressing lentivirus...
January 11, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29337139/identification-of-yellow-gene-family-in-agrotis-ipsilon-and-functional-analysis-of-aiyellow-y-by-crispr-cas9
#20
Xi'en Chen, Yanghui Cao, Shuai Zhan, Yong Zhang, Anjiang Tan, Yongping Huang
The yellow gene family has been identified in several model insects, but yellow genes were poorly identified in non-model insects and the functions of yellow genes are largely unknown. In this study, we identified seven yellow genes in an important agricultural pest Agrotis ipsilon. Each gene encodes a protein containing a major royal jelly domain. Phylogenetic analysis defined these genes as yellow-y, -b, -b2, -c, -d, -e, and -h, respectively. The A. ipsilon yellow genes yellow-b, -b2, and -c were stably expressed in all developmental stages and tissues analyzed, whereas the other four yellow genes had unique expression patterns, suggesting distinct physiological roles of each gene...
January 11, 2018: Insect Biochemistry and Molecular Biology
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