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https://www.readbyqxmd.com/read/28515788/genomic-imprinting-does-not-reduce-the-dosage-of-ube3a-in-neurons
#1
Paul R Hillman, Sarah G B Christian, Ryan Doan, Noah D Cohen, Kranti Konganti, Kory Douglas, Xu Wang, Paul B Samollow, Scott V Dindot
BACKGROUND: The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types. Both loss-of-function and gain-of-function mutations affecting the dosage of UBE3A are associated with several neurodevelopmental syndromes and psychological conditions, suggesting that UBE3A is dosage-sensitive in the brain. The observation that loss of imprinting increases the dosage of UBE3A in brain further suggests that inactivation of the paternal UBE3A allele evolved as a dosage-regulating mechanism...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28513351/mind-the-fathers-associations-of-parental-childhood-adversities-with-borderline-personality-disorder-pathology-in-female-adolescents
#2
Corinna Reichl, Romuald Brunner, Anna Fuchs, Birger Holz, Peter Parzer, Gloria Fischer-Waldschmidt, Franz Resch, Michael Kaess
Previous research revealed significant relations between the experience of childhood adversity (CA) and the development of borderline personality disorder (BPD) in adulthood. However, it is still uncertain whether parental CA could have a transgenerational association with adolescent BPD. We investigated associations between parents' CA (antipathy, neglect, physical abuse) and BPD traits within a clinical adolescent sample and tested for mediating variables. The sample consists of 91 female inpatients, along with 84 mothers and 59 fathers...
May 17, 2017: Journal of Personality Disorders
https://www.readbyqxmd.com/read/28509687/trust-in-the-medical-profession-among-adolescents-in-an-emergency-department
#3
Kelstan Lynch Ellis, Kimberly Randell, John Lantos, Melissa K Miller
OBJECTIVE: The aims of this study were to assess trust in the medical profession among adolescents in an urban pediatric emergency department (ED) and explore factors associated with trust. METHODS: We used a computerized survey to assess personal trust, perceived trust among family/friends, health care use, general and genital examination preferences, health behaviors, and demographics among youth aged 14 to 19 years. The primary outcome was the mean composite score of a validated 5-item scale...
May 15, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28505162/gender-differences-in-the-transmission-of-risk-for-antisocial-behavior-problems-across-generations
#4
Pin Li, Jill B Becker, Mary M Heitzeg, Michele L McClellan, Beth Glover Reed, Robert A Zucker
Previous studies have shown that children of alcohol use disorder (AUD) parents are more likely to develop alcohol problems as well as antisocial and other behavior problems. The purpose of this study was to examine gender discordance in the effect of early maternal and paternal influences on antisocial behaviors of boys and girls, as well as the environmental factors that moderate the parental effects. Specifically, we examined the effects of childhood and adulthood antisocial behavior of the parents on offspring antisocial behavior as young adults...
2017: PloS One
https://www.readbyqxmd.com/read/28500962/the-methylation-levels-of-the-h19-differentially-methylated-region-in-human-umbilical-cords-reflect-newborn-parameters-and-changes-by-maternal-environmental-factors-during-early-pregnancy
#5
Hidenobu Miyaso, Kenichi Sakurai, Shunya Takase, Akifumi Eguchi, Masahiro Watanabe, Hideoki Fukuoka, Chisato Mori
H19 is a tumor-suppressor gene, and changes in the methylation of the H19-differential methylation region (H19-DMR) are related to human health. However, little is known about the factors that regulate the methylation levels of H19-DMR. Several recent studies have shown that maternal environmental factors during pregnancy, such as smoking, drinking, chemical exposure, and nutrient intake, can alter the methylation levels of several genes in fetal tissues. In this study, we examined the effects of maternal factors on changes in the methylation levels of H19-DMR in the human umbilical cord (UC), an extra-embryonic tissue...
May 10, 2017: Environmental Research
https://www.readbyqxmd.com/read/28494826/angelman-syndrome-identification-and-management
#6
Daniela Bonello, Francesca Camilleri, Jean Calleja-Agius
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. It is caused by various genetic mutations and deletions of the maternally-inherited UBE3A gene, on the 15q11-13 chromosomal region. The UBE3A gene, which encodes E3 ubiquitin ligase, shows tissue-specific imprinting, being expressed entirely from the maternal allele.The diagnosis of AS is confirmed either by methylation test or by mutation analysis. A more severe clinical picture is linked with the deletion phenotype...
May 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28493861/maternal-pre-pregnancy-obesity-and-neuropsychological-development-in-pre-school-children-a-prospective-cohort-study
#7
Maribel Casas, Joan Forns, David Martínez, Mònica Guxens, Ana Fernandez-Somoano, Jesus Ibarluzea, Nerea Lertxundi, Mario Murcia, Marisa Rebagliato, Adonina Tardon, Jordi Sunyer, Martine Vrijheid
BACKGROUND: Maternal pre-pregnancy obesity may impair infant neuropsychological development, but it is unclear if intrauterine or confounding factors drive this association. METHODS: We assessed whether maternal pre-pregnancy obesity was associated with neuropsychological development in 1,827 Spanish children. At 5 years, cognitive and psychomotor development was assessed using McCarthy Scales of Children's Abilities, attention deficit hyperactivity disorder (ADHD) symptoms using the Criteria of Diagnostic and Statistical Manual of Mental Disorders, and autism spectrum disorder symptoms using the Childhood Asperger Syndrome Test...
May 11, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28492708/shadows-of-doubt-the-uneasy-incorporation-of-identification-science-into-legal-determination-of-paternity-in-brazil
#8
Sueann Caulfield, Alexandra Minna Stern
The arrival of DNA paternity testing in the 1980s was met with great enthusiasm in the Brazilian courts. Yet, over the past two decades, Brazilian legal doctrine and jurisprudence have increasingly rejected DNA proof as the sine qua non for paternity cases. Instead, DNA paternity testing has generated mountains of litigation, as biological proof has been challenged by the argument that paternity is primarily "socio-affective". Leading family law specialists describe this new conception of paternity as an outcome of the "revolutionary" provisions of the 1988 Constitution, which recognizes the "pluralism" of family forms in modern society and guarantees equal family rights for all children...
May 8, 2017: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/28471449/loss-of-mir-514a-3p-regulation-of-peg3-activates-the-nf-kappa-b-pathway-in-human-testicular-germ-cell-tumors
#9
Deniz Mahmut Özata, Xidan Li, Linkiat Lee, Jikai Liu, Dudi Warsito, Praveensingh Hajeri, Isabell Hultman, Omid Fotouhi, Stefan Marklund, Lars Ährlund-Richter, Carl Christofer Juhlin, Catharina Larsson, Weng-Onn Lui
Deregulation of microRNAs (miRNAs) contributes to the development and progression of many cancer types; however, their functions in the pathogenesis of testicular germ cell tumor (TGCT) remain unclear. Here, we determined miRNA expression profiles of TGCTs and normal testes using small RNA sequencing, and identified several deregulated miRNAs in TGCTs, including the miR-506~514 cluster. In functional studies in vitro we demonstrated that miR-514a-3p induced apoptosis through direct regulation of the paternally expressed gene 3 (PEG3), and ectopically expressed PEG3 could rescue the apoptotic effect of miR-514a-3p overexpression...
May 4, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28466851/parental-body-mass-index-and-its-association-with-body-composition-physical-fitness-and-lifestyle-factors-in-their-4-year-old-children-results-from-the-ministop-trial
#10
C Cadenas-Sanchez, P Henriksson, H Henriksson, C Delisle Nyström, J Pomeroy, J R Ruiz, F B Ortega, M Löf
BACKGROUND/OBJECTIVES: To examine the association between parental body mass index (BMI) and their offspring's body composition, physical fitness and lifestyle factors (that is, sedentary time, physical activity and diet). SUBJECTS/METHODS: A total of 307 preschoolers (4.5±0.1 years) and their parents (fathers: 38.1±5.1 years and mothers: 35.6±4.2 years) participated in this study. Parental BMI was calculated using self-reported weight and height. Preschoolers body composition was assessed using: BMI, fat mass percentage, fat mass index, fat-free mass index (measured via air-displacement plethysmography) and waist circumference...
May 3, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28465476/genetic-variation-and-forensic-efficiency-of-autosomal-insertion-deletion-polymorphisms-in-chinese-bai-ethnic-group-phylogenetic-analysis-to-other-populations
#11
Chun-Hua Yang, Cai-Yong Yin, Chun-Mei Shen, Yu-Xin Guo, Qian Dong, Jiang-Wei Yan, Hong-Dan Wang, Yu-Dang Zhang, Hao-Tian Meng, Rui Jin, Feng Chen, Bo-Feng Zhu
Thirty insertion/deletion loci were utilized to study the genetic diversities of 125 bloodstain samples collected from Bai group in Yunnan Dali region, China. The observed heterozygosity and expected heterozygosity of the 30 loci ranged from 0.1520 to 0.5680, and 0.1927 to 0.4997, respectively. No deviations from Hardy-Weinberg equilibrium tests after Bonferroni correction were found at all 30 loci in Bai group. The cumulative probability of exclusion and combined discrimination power were 0.9859 and 0.9999999999887, respectively, which indicated the 30 loci could be used as complementary genetic markers for paternity testing and were qualified for personal identification in forensic cases...
April 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28463912/dna-genotyping-of-nonmolar-donor-egg-pregnancies-with-abnormal-villous-morphology-allele-zygosity-patterns-prevent-misinterpretation-as-complete-hydatidiform-mole
#12
Nancy M Joseph, Caryll Pineda, Joseph T Rabban
DNA genotyping is the gold standard diagnostic test to distinguish hydatidiform moles from nonmolar but morphologically abnormal products of conception (POC). The test is based on comparison of alleles at 15 short tandem repeat loci in the chorionic villi of the POC to those in the maternal decidual tissue. If alleles in the POC are not present in the decidua, then the most concerning interpretation is that the POC has a paternal uniparental genome diagnostic of a complete hydatidiform mole (CHM). However, a nonmolar pregnancy from a donated egg would also appear the same because the maternal genome of the POC would match that of the maternal donor, not that of the decidua of the individual carrying the pregnancy...
April 29, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28458548/metabolic-screening-and-its-impact-in-children-with-nonsyndromic-intellectual-disability
#13
Yasser F Ali, Salah El-Morshedy, Riad M Elsayed, Amr M El-Sherbini, Saber Am El-Sayed, Nasser Ismail A Abdelrahman, Abdulbasit Abdulhalim Imam
OBJECTIVE: The objective of this study was to analyze the value of routine metabolic screening tests in children with an intellectual disability (ID) and its impact on improving their outcome and quality of life through appropriate intervention and treatment. PATIENTS AND METHODS: This cross-sectional study was conducted in the Pediatric Neurology Clinic, Al Khafji Joint Operations Hospital, Kingdom of Saudi Arabia. A total of 150 children with nonsyndromic ID (66% males) in the age range of 5-17 years were compared with 50 apparently healthy age- and sex-matched controls...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28448858/the-development-and-piloting-of-an-ehealth-breastfeeding-resource-targeting-fathers-and-partners-as-co-parents
#14
Jennifer Abbass-Dick, Fangli Xie, Jaymie Koroluk, Shelley Alcock Brillinger, Joanne Huizinga, Amber Newport, William M Goodman, Cindy-Lee Dennis
OBJECTIVE: Traditionally breastfeeding education programs target mothers solely. The objective of this study was to design and pilot test an interactive eHealth breastfeeding co-parenting resource developed to target both mothers and fathers. eHealth resources provide an accessible and engaging format on which to educate parents and assist them in meeting their breastfeeding goals. Best practices to design such resources are not currently known. DESIGN: A three phase pilot study was conducted...
April 18, 2017: Midwifery
https://www.readbyqxmd.com/read/28448554/evaluation-of-efficiency-of-controlled-pollination-based-parentage-analysis-in-a-larix-gmelinii-var-principis-rupprechtii-mayr-seed-orchard
#15
Wenting Sun, Dade Yu, Mingliang Dong, Jian Zhao, Xiaoping Wang, Hongjing Zhang, Jinfeng Zhang
Controlled pollination (CP) is an important tool for breeding programs to improve seed quality, as it rapidly generates desirable genotypes and maximizes genetic gains. However, few studies have evaluated the success rate of CP, especially in Larix gmelinii var. principis-rupprechtii Mayr. seed orchards. In this study, we estimated the rate of correct parentage in 257 CP progeny in an L. gmelinii var. principis-rupprechtii seed orchard from ten candidate parents using 13 microsatellites. The parentage exclusion probabilities of all combined loci in the single parent and parent pair tests were > 0...
2017: PloS One
https://www.readbyqxmd.com/read/28448061/grand-maternal-smoking-in-pregnancy-and-grandchild-s-autistic-traits-and-diagnosed-autism
#16
Jean Golding, Genette Ellis, Steven Gregory, Karen Birmingham, Yasmin Iles-Caven, Dheeraj Rai, Marcus Pembrey
Although there is considerable research into the genetic background of autism spectrum disorders, environmental factors are likely to contribute to the variation in prevalence over time. Rodent experiments indicate that environmental exposures can have effects on subsequent generations, and human studies indicate that parental prenatal exposures may play a part in developmental variation. Here we use the Avon Longitudinal Study of Parents and Children (ALSPAC) to test the hypothesis that if the mother or father (F1) had been exposed to their own mother's (F0) smoking during pregnancy, the offspring (F2) would be at increased risk of autism...
April 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28445878/differential-allelic-expression-of-htr1b-in-suicide-victims-genetic-and-epigenetic-effect-of-the-cis-acting-variants
#17
Ali Bani-Fatemi, Aaron Howe, Clement Zai, James L Kennedy, John Vincent, John Strauss, Albert Wong, Vincenzo De Luca
OBJECTIVES: In the present study, we tested the allelic imbalance of the C861G single nucleotide polymorphism (SNP) of HTR1B in the frontal cortex of suicide victims. METHODS: The study was conducted using 3 sets of samples. First, C861G allele-specific mRNA levels in the frontal cortex were compared between suicide (n = 13) and nonsuicide controls (n = 13) from the Stanley Medical Research postmortem brain collection. Second, we tested common variants in the HTR1B promoter for linkage disequilibrium (LD) with the C861G variant in an unrelated sample of suicide attempters (SA; n = 38) and non-SA (NSA; n = 42)...
April 27, 2017: Neuropsychobiology
https://www.readbyqxmd.com/read/28442769/improved-phylogenetic-resolution-for-y-chromosome-haplogroup-o2a1c-002611
#18
Xiaotian Yao, Senwei Tang, Beilei Bian, Xiaoli Wu, Gang Chen, Chuan-Chao Wang
Y-chromosome Haplogroup O2a1c-002611 is one of the dominant lineages of East Asians and Southeast Asians. However, its internal phylogeny remains insufficiently investigated. In this study, we genotyped 89 new highly informative single nucleotide polymorphisms (SNPs) in 305 individuals with Haplogroup O2a1c-002611 identified from 2139 Han Chinese males. Two major branches were identified, O2a1c1-F18 and O2a1c2-L133.2 and the first was further divided into two main subclades, O2a1c1a-F11 and O2a1c1b-F449, accounting for 11...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#19
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28439221/congenital-hyperinsulinism-caused-by-a-de-novo-mutation-in-the-abcc8-gene-a-case-report
#20
Zsuzsanna Molnár, Lfdia Balogh, János Kappelmayer, László Madar, Éva Gombos, István Balogh
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis...
March 2017: EJIFCC
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