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https://www.readbyqxmd.com/read/29770149/diffuse-gastric-ganglioneuromatosis-novel-presentation-of-pten-hamartoma-syndrome-case-report-and-review-of-gastric-ganglioneuromatous-proliferations-and-a-novel-pten-gene-mutation
#1
Alexander J Williams, Emily S Doherty, Michael H Hart, Douglas J Grider
Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#2
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29745039/childhood-central-adiposity-at-ages-5-and-9-shows-consistent-relationship-with-that-of-the-maternal-grandmother-but-not-other-grandparents
#3
R Somerville, H Khalil, R Segurado, J Mehegan, K Viljoen, M Heinen, C Murrin, C C Kelleher
BACKGROUND: The importance of a life course approach to childhood obesity has been emphasized; however, few studies can prospectively investigate relationships in three-generation families. OBJECTIVE: To prospectively investigate the relationship between grandparental and grandchild waist circumference (WC) at ages 5 and 9 down maternal and paternal lines. METHODS: At baseline in the Lifeways Cross-Generation Cohort, 1094 children were born to 1082 mothers; 585 were examined at age 5 and 298 at age 9...
May 9, 2018: Pediatric Obesity
https://www.readbyqxmd.com/read/29742732/recurrent-pulmonary-embolism-associated-with-deep-venous-thrombosis-diagnosed-as-protein-s-deficiency-owing-to-a-novel-mutation-in-pros1-a-case-report
#4
Xiaojie Huang, Fangfang Xu, Carmel Rebecca Assa, Laigen Shen, Bing Chen, Zhenjie Liu
RATIONALE: Protein S (PS) deficiency that can be inherited or acquired is an independent risk factor for venous thromboembolism (VTE). PATIENT CONCERNS: In this report, we present a case of recurrent pulmonary embolism (PE) and deep venous thrombosis (DVT) due to PS deficiency. DIAGNOSES: A 32-year-old male patient with significant decrease in PS activity was detected by laboratory tests. Genetic examination of the PROS1 gene showed a transition of G to T in exon 14 (c...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29739989/haplotypic-polymorphisms-and-mutation-rate-estimates-of-22-y-chromosome-strs-in-the-northern-chinese-han-father-son-pairs
#5
Yaran Yang, Weini Wang, Feng Cheng, Man Chen, Tong Chen, Jing Zhao, Chong Chen, Yan Shi, Chen Li, Chuguang Chen, Yacheng Liu, Jiangwei Yan
Y chromosome Short tandem repeats (Y-STRs) analysis has been widely used in forensic identification, kinship testing, and population evolution. An accurate understanding of haplotype and mutation rate will benefit these applications. In this work, we analyzed 1123 male samples from Northern Chinese Han population which including 578 DNA-confirmed father-son pairs at 22 Y-STRs loci. A total of 537 haplotypes were observed and the overall haplotype diversity was calculated as 1.0000 ± 0.0001. Except that only two haplotypes were observed twice, all the rest of the 535 were unique...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29739116/evaluation-of-samples-with-dfs-staining-pattern-detected-by-indirect-immunofluorescence-assay
#6
Alper Togay, Esvet Mutlu, Gozde Ongut, Derya Mutlu, Dilek Colak, Meral Gultekin
BACKGROUND: In this study, we aimed to determine the presence of anti DFS70 antibody by a specific IB method in samples showing the DFS pattern and to determine the distribution of DFS pattern in different patient groups. METHODS: 2,401 serum samples, which were received for ANA screening, were tested by IIF method at Akdeniz University Hospital Diagnostic Laboratory. Out of 139 samples with DFS pattern, 75 samples were tested for the presence of anti DFS70 antibody by IB and were included in the study...
March 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29730404/parental-exposure-to-heavy-fuel-oil-induces-developmental-toxicity-in-offspring-of-the-sea-urchin-strongylocentrotus-intermedius
#7
Meina Duan, Deqi Xiong, Mengye Yang, Yijun Xiong, Guanghui Ding
The present study investigated the toxic effects of parental (maternal/paternal) exposure to heavy fuel oil (HFO) on the adult reproductive state, gamete quality and development of the offspring of the sea urchin Strongylocentrotus intermedius. Adult sea urchins were exposed to effluents from HFO-oiled gravel columns for 7 days to simulate an oil-contaminated gravel shore, and then gametes of adult sea urchins were used to produce embryos to determine developmental toxicity. For adult sea urchins, no significant difference in the somatic size and weight was found between the various oil loadings tested, while the gonad weight and gonad index were significantly decreased at higher oil loadings...
May 3, 2018: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29721288/the-effects-of-food-and-parasitism-on-reproductive-performance-of-a-wild-rodent
#8
Pei-Jen L Shaner, Ai-Yun Yu, Shou-Hsien Li, Ching-Ho Hou
Food and parasitism can have complex effects on small mammal reproduction. In this study, we tested the effects of sex, food, and parasitism on reproductive performance of the Taiwan field mouse ( Apodemus semotus ). In a field experiment, we increased food availability for a portion of the mice in the population by providing sorghum seeds to a set of food stations. We reduced parasite intensity of randomly chosen mice through ivermectin treatment. We determined the number and quality of offspring for the mice using paternity analysis...
April 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29717496/evidence-for-paternal-kin-bias-in-the-social-affiliation-of-adult-female-blue-monkeys
#9
Marina Cords, Taylor Minich, Su-Jen Roberts, Clio Sleator
If animals increase inclusive fitness by cooperating with relatives, nepotism should involve maternal and paternal kin equally, all else being equal. Evidence of a behavioral bias toward paternal half-siblings in primates is both limited and mixed, with most positive reports from papionins. To expand knowledge of paternal kin recognition, particularly in cercopithecine monkeys, we examined evidence for paternal kin bias in wild blue monkeys (Cercopithecus mitis), a species living mostly in one-male groups. Seasonal breeding and the amount of male reproductive skew in blue monkeys suggests that opportunities to distinguish paternal kin are plentiful, and their social system would make such discrimination beneficial...
May 1, 2018: American Journal of Primatology
https://www.readbyqxmd.com/read/29706641/australians-views-on-personal-genomic-testing-focus-group-findings-from-the-genioz-study
#10
Sylvia A Metcalfe, Chriselle Hickerton, Jacqueline Savard, Bronwyn Terrill, Erin Turbitt, Clara Gaff, Kathleen Gray, Anna Middleton, Brenda Wilson, Ainsley J Newson
Personal genomic testing provides healthy individuals with access to information about their genetic makeup for purposes including ancestry, paternity, sporting ability and health. Such tests are available commercially and globally, with accessibility expected to continue to grow, including in Australia; yet little is known of the views/expectations of Australians. Focus groups were conducted within a multi-stage, cross-disciplinary project (Genioz) to explore this. In mid-2015, 56 members of the public participated in seven focus groups, allocated into three age groups: 18-24, 25-49, and ≥50 years...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29701759/polyspermy-produces-viable-haploid-diploid-mosaics-in-sturgeon
#11
Viktoriia Iegorova, Martin Psenicka, Ievgen Lebeda, Marek Rodina, Taiju Saito
Most of sturgeon species (Acipenseridae) are currently critically endangered. Attempts to revive these populations include artificial breeding in hatcheries. However, under artificial reproduction, sturgeon embryos occasionally develop atypically, showing 3, 5, 6, 7, 9, or 10 cells at the 2- to 4-cell stage. This study was undertaken with the objective of understanding the mechanism of the atypical division (AD) in embryos during artificial breeding. Using several sturgeon species, we tested two hypotheses: 1) polyspermy and 2) retention of the second polar body...
April 25, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29698014/longitudinal-associations-between-family-members-internalizing-symptoms-across-middle-childhood
#12
Deyaun L Villarreal, Jackie A Nelson
An individual's internalizing symptoms have been shown to relate to greater symptoms in family members. However, an examination of how family members' symptoms are associated with one another is needed with a model including mothers, fathers, and children. Using 633 families from the National Institutes of Child Health and Human Development Study of Early Child Care and Youth Development, the current study examines relations between different family members' internalizing symptoms over time. In the archival data set, mothers', fathers', and children's internalizing symptoms at first, third, and fifth grades were assessed during home and laboratory visits...
April 2018: Journal of Family Psychology: JFP
https://www.readbyqxmd.com/read/29692359/seminal-fluid-metabolome-and-epididymal-changes-after-antibiotic-treatment-in-mice
#13
Cheryl Susan Rosenfeld, Angela B Javurek, Sarah A Johnson, Zhentian Lei, Lloyd W Summer, Rex A Hess
Paternal environment can induce detrimental developmental origins of health and disease (DOHaD) effects in resulting offspring and even future descendants. Such paternal-induced DOHaD effects might originate from alterations in a possible seminal fluid microbiome (SFM) and composite metabolome. Seminal vesicles secrete a slightly basic product enriched with fructose and other carbohydrates, providing an ideal habitat for microorganisms. Past studies confirm the existence of a SFM that is influenced by genetic and nutritional status...
April 24, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29677481/mutation-analysis-of-short-tandem-repeats-in-a-population-sample-from-upper-silesia-southern-poland
#14
Kornelia Droździok, Jadwiga Kabiesz, Marcin Tomsia, Rafał Skowronek, Krzysztof Rębała
In paternity testing, DNA polymorphism analysis not only settles explicitly disputed paternity issue but also provides information on mutation frequencies in STR loci. In this study, insertion or deletion of one repetitive unit was observed in 38 of 32,391 meiotic transfers analysed in 953 paternity testing cases. Parentage samples from Upper Silesia (southern Poland) were examined in 2008-2014 with the use of three commercially available amplification kits: AmpFlSTR Identifiler (Applied Biosystems), PowerPlex 16 HS (Promega) and PowerPlex ESX 17 (Promega)...
April 1, 2018: Legal Medicine
https://www.readbyqxmd.com/read/29669660/correlation-between-vitamin-d-serum-levels-and-passive-smoking-exposure-in-children-with-asthma
#15
Iolanda Chinellato, Michele Piazza, Marco Sandri, Giulia Paiola, Giovanna Tezza, Attilio L Boner
OBJECTIVE: To establish the relationship between vitamin D serum levels, pulmonary function, asthma control, and passive smoking exposure in children with asthma. METHODS: We studied the relationship between 25-hydroxy cholecalciferol (25[OH]D) concentrations and baseline spirometry and levels of asthma control, and the effect of parental tobacco smoke exposure in 152 white children (84 boys [55.3%]) with a mean age ± standard deviation of 9.9 ± 2.0 years (range 5-15 years) in a cross-sectional study carried out during the winter and early spring...
May 1, 2018: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/29667547/new-markers-for-predicting-fertility-of-the-male-gametes-in-the-post-genomic-age
#16
Savina Dipresa, Luca De Toni, Carlo Foresta, Andrea Garolla
A number of test have been proposed to assess male fertility potential, ranging from routine testing by light microscopic method for evaluating semen samples, to screening test for DNA integrity aimed to look at sperm chromatin abnormalities. Spermatozoa are an extremely differentiated cell, they have critical functions for embryo development and heredity, in addiction to delivering a haploid paternal genome to the oocyte. Towards this goal certain requirements must always be met. The ability of spermatozoa to perform its reproductive function taking place in the spermatogenesis, a highly specialized process depending on multiple factors with effect on male fertility...
April 18, 2018: Protein and Peptide Letters
https://www.readbyqxmd.com/read/29657813/extreme-fertilization-bias-towards-freshly-inseminated-sperm-in-a-species-exhibiting-prolonged-female-sperm-storage
#17
Clelia Gasparini, Emma Daymond, Jonathan P Evans
The storage of sperm by females across successive reproductive cycles is well documented in internal fertilizers, yet the fate of stored sperm when they compete with 'new' sperm to fertilize a female's eggs has rarely been considered. This gap in our understanding is likely due to the logistical difficulties of controlling behavioural interactions during or after mating, which in turn may influence how many sperm are inseminated and how stored sperm are ultimately used during successive bouts of sperm competition with freshly inseminated sperm...
March 2018: Royal Society Open Science
https://www.readbyqxmd.com/read/29655581/paternal-understanding-of-menstrual-concerns-in-young-women
#18
Jane E Girling, Samuel Cj Hawthorne, Jennifer L Marino, Abdul G Nur Azurah, Sonia R Grover, Yasmin L Jayasinghe
STUDY OBJECTIVE: No studies have specifically considered paternal understanding of menstruation. This study aimed to establish the degree of understanding of fathers of adolescent girls with menstrual symptoms relative to mothers. DESIGN AND SETTING: This is a cross-sectional survey-based study. Adolescent patients attending an outpatient gynaecology clinic for dysmenorrhoea and/or heavy menstrual bleeding (HMB) and their parents were invited to complete surveys...
April 12, 2018: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29651645/parental-depressive-symptoms-as-a-risk-factor-for-child-depressive-symptoms-testing-the-social-mediators-in-internationally-adopted-children
#19
Krista Liskola, Hanna Raaska, Helena Lapinleimu, Marko Elovainio
Parental depressive symptoms have shown to be associated with offspring depression but much of the research has been focused on maternal depression. The aim of our study was to investigate the extent to which depressive symptoms of both parents associate with offspring depressive symptoms and whether social factors mediate these associations using data from adopted children with no shared genetic background. Data were derived from the Finnish Adoption survey study (a subsample of adopted children aged between 9 and 12 years, n = 548)...
April 12, 2018: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/29626747/non-invasive-prenatal-paternity-testing-using-cell-free-fetal-dna-from-maternal-plasma-dna-isolation-and-genetic-marker-studies
#20
REVIEW
Shanshan Zhang, Shuyi Han, Maoxiu Zhang, Yunshan Wang
Invasive prenatal paternity tests can result in miscarriage and congenital malformations; therefore, a non-invasive method of testing is preferable. However, little progress could be made in this field until the introduction of cell-free fetal DNA (cffDNA) in 2009. In this review, two aspects regarding the history and development of non-invasive prenatal paternity testing (NIPAT) are summarized: (1) extraction and enrichment of cffDNA and (2) genetic marker-based studies. Although column-based kits are used widely for NIPAT, some researchers have suggested that an automated method, such as magnetic extraction, generally has a higher cffDNA yield than that of manual column-based extraction; therefore, its popularity might increase in the near future...
April 1, 2018: Legal Medicine
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