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Paternity testing

Shahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, Bernd Wollnik
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p.(Glu1799Lys), were reported. Here, we describe siblings from a non-consanguineous German family in whom we identified the same heterozygous missense mutation in MTOR. Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c...
October 18, 2016: American Journal of Medical Genetics. Part A
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
Zeynep Sofuoğlu, Görkem Sarıyer, M Gökalp Ataman
BACKGROUND AND AIM: Child maltreatment, i.e. abuse and neglect, is a significant problem worldwide and can cause impaired physical and mental health throughout life. The true extent still remains unknown in all countries, including Turkey. The aim of this study was to apply the two versions of the International Society for the Prevention of Child Abuse and Neglect (ISPCAN) Child Abuse Screening Tool of ICAST-C and ICAST-P, which are used to assess child and parent feedback and to compare reports given by children and those given by parents...
September 2016: Central European Journal of Public Health
Visalini Nair-Shalliker, Sarsha Yap, Carlos Nunez, Sam Egger, Jennifer Rodger, Manish I Patel, Dianne L O'Connell, Freddy Sitas, Bruce K Armstrong, David P Smith
Prostate cancer (PC) is the most common non-cutaneous cancer in men worldwide. The relationships between PC and possible risk factors for PC cases (n=1181) and male controls (n=875) from the New South Wales (NSW) Cancer, Lifestyle and Evaluation of Risk Study (CLEAR) were examined in this study. The associations between PC risk and paternal history of PC, body mass index (BMI), medical conditions, sexual behaviour, balding pattern and puberty, after adjusting for age, income, region of birth, place of residence, and PSA testing, were examined...
October 14, 2016: International Journal of Cancer. Journal International du Cancer
Urszula Sioma-Markowska, Ryszard Poręba, Mariola Machura, Violetta Skrzypulec-Plinta
OBJECTIVES: The analysis of the forms of paternal activity depending on the manner of their preparation, including stages of labor. MATERIAL AND METHODS: A prospective survey-based study involved 250 fathers who participated in their child's birth. The fathers included in the study were present during all stages of family-assisted natural labor. The study was conducted one day after childbirth with the use of a survey prepared by the authors. Statistical calculations were conducted using the Statistica PL software...
2016: Ginekologia Polska
Michael Castro, Koah Vierkoetter, Douglas Prager, Shasta Montgomery, Kristin Sedgwick
BACKGROUND: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. CASE REPORT: Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers...
May 2016: Case Reports in Oncology
Steven K Schwartz, William E Wagner, Eileen A Hebets
In a number of species, males are cannibalized by females after mating (reviewed in [1, 2]), and some males actually appear to facilitate their own cannibalism (reviewed in [3]). Such self-sacrifice can evolve if being eaten sufficiently enhances either fertilization success (mating effort) or offspring number or fitness (paternal effort). While there is some support for the mating-effort hypothesis, few studies have found support for paternal effort. We used two experiments to test the paternal-effort hypothesis in the dark fishing spider, Dolomedes tenebrosus...
October 4, 2016: Current Biology: CB
Jamie C Fong, Julio C Rojas, Jee Bang, Andrea Legati, Katherine P Rankin, Sven Forner, Zachary A Miller, Anna M Karydas, Giovanni Coppola, Carrie K Grouse, Jeffrey Ralph, Bruce L Miller, Michael D Geschwind
Patients with pathogenic truncating mutations in the prion gene (PRNP) usually present with prolonged disease courses with severe neurofibrillary tangle and cerebral amyloidosis pathology, but more atypical phenotypes also occur, including those with dysautonomia and peripheral neuropathy. We describe the neurological, cognitive, neuroimaging, and electrophysiological features of a 31-year-old man presenting with an orbitofrontal syndrome, gastrointestinal symptoms, and peripheral neuropathy associated with PRNP Q160X nonsense mutation, with symptom onset at age 27...
October 4, 2016: Journal of Alzheimer's Disease: JAD
Yvette Lahbib-Mansais, Harmonie Barasc, Maria Marti-Marimon, Florence Mompart, Eddie Iannuccelli, David Robelin, Juliette Riquet, Martine Yerle-Bouissou
BACKGROUND: To explore the relationship between spatial genome organization and gene expression in the interphase nucleus, we used a genomic imprinting model, which offers parental-specific gene expression. Using 3D FISH in porcine fetal liver cells, we compared the nuclear organization of the two parental alleles (expressed or not) of insulin-like growth factor 2 (IGF2), a paternally imprinted gene located on chromosome 2. We investigated whether its nuclear positioning favors specific locus associations...
October 1, 2016: BMC Cell Biology
Thomas D Brekke, Lindy A Henry, Jeffrey M Good
The importance of regulatory incompatibilities to the early stages of speciation remains unclear. Hybrid mammals often show extreme parent-of-origin growth effects that are thought to be a consequence of disrupted genetic imprinting (parent-specific epigenetic gene silencing) during early development. Here we test the long-standing hypothesis that abnormal hybrid growth reflects disrupted gene expression due to loss of imprinting (LOI) in hybrid placentas, resulting in dosage imbalances between paternal growth factors and maternal growth repressors...
October 7, 2016: Evolution; International Journal of Organic Evolution
W L Flowers, F Deller, K R Stewart
The objective of this study was to evaluate relationships between common semen quality estimates including sperm motility, sperm morphology, spontaneous capacitation status and seminal plasma proteins and boar fertility using heterospermic inseminations and subsequent paternity testing. All boars (n=12) used in the study had excellent semen quality (≥70% normal sperm) that resulted in average farrowing rates and litter sizes of 88.9±0.7% and 11.7±0.1 pigs, respectively. Their ejaculates were combined to make heterospermic insemination doses in such a way that each boar was tested against all of his contemporaries...
September 29, 2016: Animal Reproduction Science
Edward J Romasko, Nora Engel
Genomic imprinting is an epigenetic mechanism that affects a subset of mammalian genes, resulting in monoallelic expression depending on the parental origin of the alleles. Imprinted regions contain regulatory elements that are methylated in the gametes in a sex-specific manner (differentially methylated regions or DMRs). DMRs are present at non-imprinted loci as well, but whereas most regions are equalized after fertilization, methylation at imprinted regions maintains asymmetry. We tested the hypothesis that paternally unmethylated DMRs are occupied by transcription factors (TFs) present during male gametogenesis...
September 30, 2016: G3: Genes—Genomes—Genetics
I Paterniti, M Campolo, M Cordaro, D Impellizzeri, R Siracusa, R Crupi, E Esposito, S Cuzzocrea
Melatonin is the principal secretory product of the pineal gland, and its role as an immunomodulator is well established. Recent evidence shows that melatonin is a scavenger of oxyradicals and peroxynitrite and reduces the development of inflammation and tissue injury events associated with spinal cord trauma. Previous results suggest that peroxisome proliferator-activated receptor α (PPAR-α), a nuclear receptor protein that functions as a transcription factor activated by fatty acids, plays a role in control of secondary inflammatory process associated with spinal cord injury (SCI)...
September 29, 2016: Molecular Neurobiology
Jing Chen, Bingbing Xie, Yaran Yang, Meng Yang, Chao Liu, Yuexin Lv, Chuguang Chen, Xiu Liu, Xiangdong Fang, Huijuan Wu, Jiangwei Yan
BACKGROUND: Investigation of allele and genotype frequencies of microsatellite loci in various populations is an essential prerequisite in forensic application. AIM: In the present study, we obtained population genetic data and forensic parameters of 39 autosomal Short Tandem Repeats (STRs) loci from Chinese Li ethnic group and estimated the genetic relationships between Li and other reference populations. SUBJECTS AND METHODS: Thirty-nine STR loci, which include D19S433, D5S818, D21S11, D18S51, D6S1043, D3S1358, D13S317, D7S820, D16S539, CSF1PO, Penta D, D2S441, vWA, D8S1179, TPOX, Penta E, TH01, D12S391, D2S1338, FGA, D6S477, D18S535, D19S253, D15S659, D11S2368, D20S470, D1S1656, D22-GATA198B05, D8S1132, D4S2366, D21S1270, D13S325, D9S925, D3S3045, D14S608, D10S1435, D7S3048, D17S1290 and D5S2500, were amplified two multiplex DNA-STR fluorescence detection systems for 189 unrelated healthy individuals of Chinese Li ethnic group...
September 26, 2016: Annals of Human Biology
Johan Bester, Cristie M Cole, Eric Kodish
In this paper, we examine the limits of informed consent with particular focus on ways in which various factors can overwhelm decision-making capacity. We introduce overwhelm as a phenomenon commonly experienced by patients in clinical settings and distinguish between emotional overwhelm and informational overload. We argue that in these situations, a clinician's primary duty is prevention of harm and suggest ways in which clinicians can discharge this obligation. To illustrate our argument, we consider the clinical application of genetic sequencing testing, which involves scientific and technical information that can compromise the understanding and decisional capacity of most patients...
2016: AMA Journal of Ethics
Prashant P Sharma, Marc A Santiago, Ricardo Kriebel, Savana M Lipps, Perry A C Buenavente, Arvin C Diesmos, Milan Janda, Sarah L Boyer, Ronald M Clouse, Ward C Wheeler
The taxonomy and systematics of the armored harvestmen (suborder Laniatores) are based on various sets of morphological characters pertaining to shape, armature, pedipalpal setation, and the number of articles of the walking leg tarsi. Few studies have tested the validity of these historical character systems in a comprehensive way, with reference to an independent data class, i.e., molecular sequence data. We examined as a test case the systematics of Podoctidae, a family distributed throughout the Indo-Pacific...
September 21, 2016: Molecular Phylogenetics and Evolution
Min A Kim, Shin-Jeong Kim, Haeryun Cho
The aims of our pilot study were to test (1) the effectiveness of tactile stimulation by fathers on their infants' physiological responses such as oxygen saturation levels, heart rates (HRs), and respiration rates (RRs) and (2) fathers' perceived levels of attachment to infants in the neonatal intensive care unit (NICU). This was a quasi-experimental design using a control group, which assessed pre- and post-intervention differences via t tests. Twenty neonate-father dyads participated in the intervention and 20 neonate-father dyads populated a control group from one general hospital located in South Korea...
September 22, 2016: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
Valentina Silvestri, Veronica Zelli, Virginia Valentini, Piera Rizzolo, Anna Sara Navazio, Anna Coppa, Simona Agata, Cristina Oliani, Daniela Barana, Tiziana Castrignanò, Alessandra Viel, Antonio Russo, Maria Grazia Tibiletti, Ines Zanna, Giovanna Masala, Laura Cortesi, Siranoush Manoukian, Jacopo Azzollini, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Paolo Radice, Domenico Palli, Giuseppe Giannini, Giovanni Chillemi, Marco Montagna, Laura Ottini
BACKGROUND: Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation-negative MBC cases. METHODS: Germ-line DNA of 1 male and 2 female BRCA1/2 mutation-negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES...
September 20, 2016: Cancer
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
Haojun Jiang, Yifan Xie, Xuchao Li, Huijuan Ge, Yongqiang Deng, Haofang Mu, Xiaoli Feng, Lu Yin, Zhou Du, Fang Chen, Nongyue He
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels in order to verify the performance in clinical cases...
2016: PloS One
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