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https://www.readbyqxmd.com/read/28912863/a-novel-mutation-in-the-hepatocyte-nuclear-factor-1%C3%AE-gene-in-maturity-onset-diabetes-of-the-young-5-with-multiple-renal-cysts-and-pancreas-hypogenesis-a-case-report
#1
You Lv, Zhuo Li, Kan He, Ying Gao, Xianchao Xiao, Yujia Liu, Guixia Wang
A 17-year-old Chinese male was hospitalized exhibiting hyperglycemia and increased serum urea nitrogen and creatinine levels in addition to weight loss. The patient was treated with gliclazide. The patient was 150 cm tall, weighed 35 kg and had no family history of diabetes or kidney disease. Physical examination revealed cephalus quadratus, rachitic rosary and a visible toe-out gait. Laboratory examinations revealed that the patient's fasting plasma glucose and glycosylated hemoglobin levels were markedly increased, fasting plasma C-peptide level was slightly increased and no peak 2 h postprandial was observed...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28904145/older-fathers-children-have-lower-evolutionary-fitness-across-four-centuries-and-in-four-populations
#2
Ruben C Arslan, Kai P Willführ, Emma M Frans, Karin J H Verweij, Paul-Christian Bürkner, Mikko Myrskylä, Eckart Voland, Catarina Almqvist, Brendan P Zietsch, Lars Penke
Higher paternal age at offspring conception increases de novo genetic mutations. Based on evolutionary genetic theory we predicted older fathers' children, all else equal, would be less likely to survive and reproduce, i.e. have lower fitness. In sibling control studies, we find support for negative paternal age effects on offspring survival and reproductive success across four large populations with an aggregate N > 1.4 million. Three populations were pre-industrial (1670-1850) Western populations and showed negative paternal age effects on infant survival and offspring reproductive success...
September 13, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28900802/assessment-of-m2-anxa5-haplotype-as-a-risk-factor-in-couples-with-placenta-mediated-pregnancy-complications
#3
Nina Rogenhofer, Lara R M Nienaber, Lea C Amshoff, Nadia Bogdanova, David Petroff, Peter Wieacker, Christian J Thaler, Arseni Markoff
PURPOSE: The aim of this study was to confirm the associated M2/ANXA5 carrier risk in women with placenta-mediated pregnancy complications (PMPC) and to test their male partners for such association. Further analysis evaluated the influence of maternal vs. paternal M2 alleles on miscarriage. METHODS: Two hundred eighty-eight couples with preeclampsia (PE), intrauterine growth restriction (IUGR), or premature birth (PB) were recruited (n = 96 of each phenotype)...
September 13, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#4
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan, Natalie Canham
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing)...
September 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28893722/parental-occupational-exposure-to-organic-solvents-and-testicular-germ-cell-tumors-in-their-offspring-nord-test-study
#5
Charlotte Le Cornet, Béatrice Fervers, Eero Pukkala, Tore Tynes, Maria Feychting, Johnni Hansen, Kayo Togawa, Karl-Christian Nordby, Susanne Oksbjerg Dalton, Sanni Uuksulainen, Pernilla Wiebert, Torill Woldbæk, Niels E Skakkebæk, Ann Olsson, Joachim Schüz
BACKGROUND: Testicular germ cell tumors (TGCT) were suggested to have a prenatal environmentally related origin. The potential endocrine disrupting properties of certain solvents may interfere with the male genital development in utero. OBJECTIVES: We aimed to assess the association between maternal and paternal occupational exposures to organic solvents during the prenatal period and TGCT risk in their offspring. METHODS: This registry-based case control study included TGCT cases aged 14-49 y (n=8,112) diagnosed from 1978 to 2012 in Finland, Norway, and Sweden...
June 30, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28893040/relationship-between-parental-bonding-and-tobacco-specific-practices-as-predictors-of-tobacco-usage-in-adults
#6
Kailash Asawa, Astha Doshi, Nagesh Bhat, Mridula Tak, Ashish Chhajlani, Satish Bhosle, Sandeep Jain, Disha Shah
INTRODUCTION: Parents influence their child's conduct and adolescence hostility either directly or indirectly. Similarly children can acquire a particular behaviour by observing and intentionally imitating their parents in order to simply copy them without understanding the positive or negative outcome. AIM: To assess and compare the association between parental tobacco usage and parental bonding with participants tobacco usage habits. MATERIALS AND METHODS: A descriptive cross-sectional study was conducted among 130 adults...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28868577/x-chromosomal-str-based-genetic-structure-of-sichuan-tibetan-minority-ethnicity-group-and-its-relationships-to-various-groups
#7
Guanglin He, Ye Li, Xing Zou, Ying Zhang, Hepei Li, Mengge Wang, Jin Wu
The X-chromosomal short tandem repeats (STRs) with more informative than autosomal STRs in some complicated biological relationships identification due to its specific mode of genetic transmission can be used as a complementary tool in forensic case practices. In this study, we presented the population genetic data of 19 X-STRs, consisting of DXS10174, DXS10075, DXS10079, DXS101, DXS10101, DXS10103, DXS10134, DXS10135, DXS10148, DXS10159, DXS10162, DXS10164, DXS6789, DXS6809, DXS7132, DXS7423, DXS7424, DXS8378, and HPRTB loci, in a sample of 235 individuals of Tibetan nationality from Sichuan province, Southwest China...
September 3, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28868569/genetic-analysis-of-12-x-str-loci-in-the-serbian-population-from-vojvodina-province
#8
Igor Veselinović, Dušan Vapa, Mihajla Djan, Nevena Veličković, Tanja Veljović, Galina Petrić
The analysis of 12 X-STR loci included in the Investigator® Argus X-12 kit was performed on a sample of 325 unrelated persons from Vojvodina Province, Republic of Serbia. No significant differences were observed in the allele frequencies in males and females. Heterozygosity values among the studied loci ranged from 67.62 to 94.28%. All loci in female individuals were consistent with the Hardy-Weinberg equilibrium test. The combined power of discrimination values in male and female individuals was 0.9999999994 and 0...
September 3, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28862993/a-statistical-test-for-detecting-parent-of-origin-effects-when-parental-information-is-missing
#9
Chiara Sacco, Cinzia Viroli, Mario Falchi
Genomic imprinting is an epigenetic mechanism that leads to differential contributions of maternal and paternal alleles to offspring gene expression in a parent-of-origin manner. We propose a novel test for detecting the parent-of-origin effects (POEs) in genome wide genotype data from related individuals (twins) when the parental origin cannot be inferred. The proposed method exploits a finite mixture of linear mixed models: the key idea is that in the case of POEs the population can be clustered in two different groups in which the reference allele is inherited by a different parent...
September 26, 2017: Statistical Applications in Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28862121/elucidation-of-a-conserved-proteomic-pattern-of-breast-cancer-tissue-and-metastatic-axillary-lymph-node
#10
Gurler Akpinar, Turgay Simsek, Ata Guler, Murat Kasap, Nuh Zafer Canturk
OBJECTIVE: Breast cancer is one of the most devastating cancer types affecting women. For critical decision making regarding the fate of cancerous breast tissue, the assessment of axillary lymph node (ALN) involvement is required. However, such ALN involvement is difficult to predict without surgical intervention. Therefore, an easy predictive test using protein markers may be a desirable approach. In this study, we performed a whole proteome analysis to reveal the presence of a putative biomarker panel using primary breast tumor tissue...
July 2017: Chirurgia
https://www.readbyqxmd.com/read/28857150/a-model-of-maternal-and-paternal-ethnic-socialization-of-mexican-american-adolescents-self-views
#11
George P Knight, Gustavo Carlo, Cara Streit, Rebecca M B White
Data from a sample of 462 Mexican-American adolescents (M = 10.4 years, SD = .55; 48.1% girls), mothers, and fathers were used to test an ethnic socialization model of ethnic identity and self-efficacy that also considered mainstream parenting styles (e.g., authoritative parenting). Findings supported the ethnic socialization model: parents' endorsement of Mexican-American values were associated with ethnic socialization at fifth grade and seventh grade; maternal ethnic socialization at fifth grade and paternal ethnic socialization at seventh grade were associated with adolescents' ethnic identity exploration at 10th grade and, in turn, self-efficacy at 12th grade...
August 30, 2017: Child Development
https://www.readbyqxmd.com/read/28855677/no-evidence-for-parental-age-effects-on-offspring-leukocyte-telomere-length-in-free-living-soay-sheep
#12
H Froy, E J Bird, R V Wilbourn, J Fairlie, S L Underwood, E Salvo-Chirnside, J G Pilkington, C Bérénos, J M Pemberton, D H Nussey
In humans, the effect of paternal age at conception (PAC) on offspring leukocyte telomere length (LTL) is well established, with older fathers thought to pass on longer telomeres to their offspring in their sperm. Few studies have looked for PAC effects in other species, but it has been hypothesised that the effect will be exacerbated in polygamous species with higher levels of sperm competition and production. We test for maternal (MAC) and paternal age at conception effects on offspring LTL in Soay sheep, a primitive breed experiencing strong sperm competition...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28854191/use-of-noninvasive-bug-eggs-to-enable-comparative-inferences-on-genetic-mating-system-with-and-without-parental-information-a-study-in-a-cattle-egret-colony
#13
Carolina Isabel Miño, Elaine Dantas de Souza, Emmanuel Moralez-Silva, Talita Alvarenga Valdes, Vera Lúcia Cortiço Corrêa Rodrigues, Sílvia Nassif Del Lama
Colonial waterbirds such as herons, egrets and spoonbills exhibit ecological characteristics that could have promoted the evolution of conspecific brood parasitism and extra-pair copulation. However, an adequate characterization of the genetic mating systems of this avian group has been hindered by the lack of samples of elusive candidate parents which precluded conducting conventional parentage allocation tests. Here, we investigate the genetic mating system of the invasive cattle egret using hematophagous insects contained in fake eggs to collect blood from incubating adults in a wild breeding colony...
2017: PloS One
https://www.readbyqxmd.com/read/28852585/implications-of-nutritional-stress-as-nestling-or-fledgling-on-subsequent-attractiveness-and-fecundity-in-zebra-finches-taeniopygia-guttata
#14
Mariam Honarmand, E Tobias Krause, Marc Naguib
The conditions an organism experiences during early development can have profound and long lasting effects on its subsequent behavior, attractiveness, and life history decisions. Most previous studies have exposed individuals to different conditions throughout development until nutritional independence. Yet under natural conditions, individuals may experience limitations for much shorter periods due to transient environmental fluctuations. Here, we used zebra finches (Taeniopygia guttata) in captivity to determine if conditions experienced during distinctly different early developmental phases contribute differently to male and female attractiveness and subsequent reproduction...
2017: PeerJ
https://www.readbyqxmd.com/read/28845069/highly-polymorphic-microsatellite-markers-for-the-assessment-of-male-reproductive-skew-and-genetic-variation-in-critically-endangered-crested-macaques-macaca-nigra
#15
Antje Engelhardt, Laura Muniz, Dyah Perwitasari-Farajallah, Anja Widdig
Genetic analyses based on noninvasively collected samples have become an important tool for evolutionary biology and conservation. Crested macaques (Macaca nigra), endemic to Sulawesi, Indonesia, are important for our understanding of primate evolution as Sulawesi macaques represent an exceptional example of primate adaptive radiation. Crested macaques are also Critically Endangered. However, to date we know very little about their genetics. The aim of our study was to find and validate microsatellite markers useful for evolutionary, conservation, and other genetic studies on wild crested macaques...
2017: International Journal of Primatology
https://www.readbyqxmd.com/read/28837237/pseudodominant-inheritance-pattern-in-a-family-with-cmt2-caused-by-gdap1-mutations
#16
Barbara W van Paassen, Marieke Bronk, Camiel Verhamme, Fred van Ruissen, Frank Baas, Karin Y van Spaendonck-Zwarts, Marianne de Visser
We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of generalized muscle weakness. The sister showed the same symptoms although to a lesser extent. The father and paternal aunt had foot deformity and atrophy of lower legs. A homozygous GDAP1 mutation was found in the proband and in the sister...
August 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28833343/correlates-of-androgens-in-wild-male-barbary-macaques-testing-the-challenge-hypothesis
#17
Alan V Rincon, Laëtitia Maréchal, Stuart Semple, Bonaventura Majolo, Ann MacLarnon
Investigating causes and consequences of variation in hormonal expression is a key focus in behavioral ecology. Many studies have explored patterns of secretion of the androgen testosterone in male vertebrates, using the challenge hypothesis (Wingfield, Hegner, Dufty, & Ball, 1990; The American Naturalist, 136(6), 829-846) as a theoretical framework. Rather than the classic association of testosterone with male sexual behavior, this hypothesis predicts that high levels of testosterone are associated with male-male reproductive competition but also inhibit paternal care...
August 17, 2017: American Journal of Primatology
https://www.readbyqxmd.com/read/28831823/mutation-rates-for-20-str-loci-in-a-population-from-s%C3%A3-o-paulo-state-southeast-brazil
#18
J Martinez, D F Braganholi, I B Ambrósio, F S Polverari, Rmb Cicarelli
Short tandem repeats (STRs) are genetic markers largely employed in forensic analysis and paternity investigation cases. When an inconsistency between parent and child were considered as a possible mutation, the mutation rate should be incorporated into paternity index calculations to have a robust result and to reduce the chance of misinterpretation. The aim of this study was to estimate mutation rate of 20 autosomal STRs loci used for paternity tests. In these loci were analyzed 29,831 parent-child allelic transfers from 929 duos or trios paternity tests carried out during 2012-2016 from São Paulo State, Brazil...
August 23, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28829768/association-of-pre-pregnancy-body-mass-index-with-offspring-metabolic-profile-analyses-of-3-european-prospective-birth-cohorts
#19
Diana L Santos Ferreira, Dylan M Williams, Antti J Kangas, Pasi Soininen, Mika Ala-Korpela, George Davey Smith, Marjo-Riitta Jarvelin, Debbie A Lawlor
BACKGROUND: A high proportion of women start pregnancy overweight or obese. According to the developmental overnutrition hypothesis, this could lead offspring to have metabolic disruption throughout their lives and thus perpetuate the obesity epidemic across generations. Concerns about this hypothesis are influencing antenatal care. However, it is unknown whether maternal pregnancy adiposity is associated with long-term risk of adverse metabolic profiles in offspring, and if so, whether this association is causal, via intrauterine mechanisms, or explained by shared familial (genetic, lifestyle, socioeconomic) characteristics...
August 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28811893/knowledge-of-obstetric-danger-signs-and-associated-factors-among-pregnant-women-attending-antenatal-care-at-health-facilities-of-yirgacheffe-town-gedeo-zone-southern-ethiopia
#20
Desalegn Tsegaw Hibstu, Yadeshi Demisse Siyoum
BACKGROUND: Obstetric danger signs are not the literal obstetric complications, merely symptoms that are well named by non-clinical personnel. The identification of these danger signs and its relation with complications during pregnancy would increase the capacity of women, their partners and families to seek for timely health care, following the appropriate steps to insure a safe birth and post-partum. The aim of this study was to assess the knowledge of obstetric danger signs and associated factors among pregnant women attending antenatal care in Yirgacheffe town, Gedeo zone, Southern Ethiopia...
2017: Archives of Public Health, Archives Belges de Santé Publique
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