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https://www.readbyqxmd.com/read/29330548/shox-haploinsufficiency-presenting-with-isolated-short-long-bones-in-the-second-and-third-trimester
#1
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHOX haploinsufficiency was distinct in each case...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29328966/cementum-as-a-source-of-dna-in-challenging-forensic-cases
#2
Hussam Mansour, Oliver Krebs, Jan Peter Sperhake, Christa Augustin, Till Koehne, Michael Amling, Klaus Püschel
Each forensic case is characterized by its own uniqueness. Deficient forensic cases require additional sources of human identifiers to assure the identity. We report on two different cases illustrating the role of teeth in answering challenging forensic questions. The first case involves identification of an adipocere male found in a car submersed in water for approximately 2 years. The second scenario, which involves paternity DNA testing of an exhumed body, was performed approximately 2.8 years post-mortem...
January 3, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29324255/aberrant-autistic-and-food-related-behaviors-in-adults-with-prader-willi-syndrome-the-comparison-between-young-adults-and-adults
#3
Hiroyuki Ogata, Hiroshi Ihara, Masao Gito, Masayuki Sayama, Nobuyuki Murakami, Tadayuki Ayabe, Yuji Oto, Toshiro Nagai, Kazutaka Shimoda
This study aims to explore the differences of age as well as genotype in regards to the severity of behavioral symptoms in Prader-Willi syndrome (PWS), with emphasis on the comparison between youngadults and adults.The Food Related Problem Questionnaire (FRPQ), the Aberrant Behavior Checklist Japanese Version (ABC-J), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 46 PWS patients, including 33 young adults (ages 18-28) and 13 adults(ages 30-45). To examine the differences between young adults and adults, Mann-Whitney U tests were conducted...
January 8, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29321878/asymmetric-reproductive-interference-the-consequences-of-cross-pollination-on-reproductive-success-in-sexual-apomictic-populations-of-potentilla-puberula-rosaceae
#4
Christoph Dobeš, Susanne Scheffknecht, Yulia Fenko, Dagmar Prohaska, Christina Sykora, Karl Hülber
Apomixis evolves from a sexual background and usually is linked to polyploidization. Pseudogamous gametophytic apomicts, which require a fertilization to initiate seed development, of various ploidy levels frequently co-occur with their lower-ploid sexual ancestors, but the stability of such mixed populations is affected by reproductive interferences mediated by cross-pollination. Thereby, reproductive success of crosses depends on the difference in ploidy levels of mating partners, that is, on tolerance of deviation from the balanced ratio of maternal versus paternal genomes...
January 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29321245/limited-support-for-the-x-linked-grandmother-hypothesis-in-pre-industrial-finland
#5
Simon N Chapman, Jenni E Pettay, Virpi Lummaa, Mirkka Lahdenperä
The level of kin help often depends on the degree of relatedness between a helper and the helped. In humans, grandmother help is known to increase the survival of grandchildren, though this benefit can differ between maternal grandmothers (MGMs) and paternal grandmothers (PGMs) and between grandsons and granddaughters. The X-linked grandmother hypothesis posits that differential X-chromosome relatedness between grandmothers and their grandchildren is a leading driver of differential grandchild survival between grandmother lineages and grandchild sexes...
January 2018: Biology Letters
https://www.readbyqxmd.com/read/29301586/effectiveness-of-a-psycho-educational-intervention-to-prevent-postpartum-parental-distress-and-enhance-infant-well-being-study-protocol-of-a-randomized-controlled-trial
#6
Marjolein Missler, Roseriet Beijers, Jaap Denissen, Annemieke van Straten
BACKGROUND: The first months after birth can be challenging for parents, leading to parental distress and decreased well-being. Parents with high levels of distress are found to respond less adequately and sensitively to their infant, which in turn affects infant well-being and health. The goal of this study is to examine the effectiveness of a psycho-educational intervention to prevent postpartum parental distress and enhance the quality of caregiving and infant well-being. In contrast to other interventions, this intervention will be (1) offered already before birth, (2) offered to all parents-to-be, regardless of their risk of postpartum distress, and (3) include fathers...
January 4, 2018: Trials
https://www.readbyqxmd.com/read/29299300/an-integrative-mating-system-assessment-of-a-nonmodel-economically-important-pacific-rockfish-sebastes-melanops-reveals-nonterritorial-polygamy-and-conservation-implications-for-a-large-species-flock
#7
Kurt W Karageorge, Raymond R Wilson
Characterizing the mating systems of long-lived, economically important Pacific rockfishes comprising the viviparous Sebastes species flock is crucial for their conservation. However, direct assignment of mating success to sires is precluded by open, offshore populations and high female fecundity. We addressed this challenge by integrating paternity-assigned mating success of females with the adult sex ratio (ASR) of the population, male evolutionary responses to receptive females, and reproductive life history traits-in the framework of sexual selection theory-to assess the mating system of Sebastes melanops...
December 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29289657/effects-of-social-defeat-on-paternal-behavior-and-pair-bonding-behavior-in-male-california-mice-peromyscus-californicus
#8
Alex S Kowalczyk, Randy F Davila, Brian C Trainor
Male parental care is an important social behavior for several mammalian species. Psychosocial stress is usually found to inhibit maternal behavior, but effects on paternal behavior have been less consistent. We tested the effects of social defeat stress on pair bond formation and paternal behavior in the monogamous California mouse (Peromyscus californicus). Social defeat reduced time spent in a chamber with a stranger female during a partner preference test conducted 24h after pairing, but increased latency to the first litter...
December 28, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/29280769/disclosure-consent-opportunity-costs-and-inaccurate-risk-assessment-deter-pediatric-hiv-testing-a-mixed-methods-study
#9
Anjuli D Wagner, Gabrielle O'malley, Olivia Firdawsi, Cyrus Mugo, Irene N Njuguna, Elizabeth Maleche-Obimbo, Irene W Inwani, Dalton C Wamalwa, Grace C John-Stewart, Jennifer A Slyker
(250/250 words) BACKGROUND:: Prompt child HIV testing and treatment is critical; however, children are often not diagnosed until symptomatic. Understanding factors that influence pediatric HIV testing can inform strategies to increase testing. METHODS: A mixed-methods study was conducted at a tertiary hospital in Nairobi, Kenya. Three focus group discussions with health care workers (HCW) and 18 in-depth interviews with HIV-infected adults with children of unknown status were analyzed using thematic analysis...
December 22, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/29250994/posttraumatic-growth-and-parental-bonding-in-young-adults-of-parents-with-physical-disabilites-testing-mediation-model-of-resilience
#10
Yuli Li, Aihong Xing, Xiaoyun Chen, Fenglan Lou, Fenglin Cao
Positive parent-child relationships are associated with positive youth development, but little is known about the relationships between parental bonding, resilience, and posttraumatic growth, which is positive change resulting from the struggle with trauma. This study examined a mediation model among 119 female young adults with disabled parents. The model included resilience as a mediator of the relationship between the paternal Care and posttraumatic growth. The results revealed that resilience did mediate the relationship between the paternal Care and posttraumatic growth...
December 18, 2017: Psychology, Health & Medicine
https://www.readbyqxmd.com/read/29246599/manifestations-of-neurological-symptoms-and-thromboembolism-in-adults-with-mthfr-deficiency
#11
Paulus S Rommer, Johannes Zschocke, Brian Fowler, Manuela Födinger, Vassiliki Konstantopoulou, Dorothea Möslinger, Elisabeth Stögmann, Erhard Suess, Matthias Baumgartner, Eduard Auff, Gere Sunder-Plassmann
BACKGROUND: Methylenetetrahydrofolate-reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting intracellular folate metabolism with affection of different organ systems and clinical manifestation usually in childhood. OBJECTIVE: We report on four adult members of a family with MTHFR deficiency presenting with neurological and thromboembolic complications in adulthood. METHODS: Extensive diagnostic work-up including genetic testing was performed in four adult members...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29236092/paternal-smoking-and-maternal-protective-behaviors-at-home-on-infant-s-saliva-cotinine-levels
#12
Man-Ping Wang, Yi-Nam Suen, Bonny Yee-Man Wong, William Ho-Cheung Li, David Soo-Quee Koh, Tai-Hing Lam, Sophia Siu-Chee Chan
BackgroundWe investigated the association between paternal smoking, avoidance behaviors and maternal protective actions and smoke-free home rules with infant's saliva cotinine in Hong Kong.MethodsSix hundred and seventy-five non-smoking mothers (mean age 32.6 years) who attended the maternal-child health clinics with their newborns aged ≤18 months completed a questionnaire about paternal smoking and avoidance behaviors, maternal protective actions, smoke-free rules at home, and infant's second-hand smoke (SHS) exposure...
December 13, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29233637/compound-heterozygous-familial-hypercholesterolemia-in-a-chinese-boy-with-a-de%C3%A2-novo-and-transmitted-low-density-lipoprotein-receptor-mutation
#13
Yizhe Ma, Yingyun Gong, Abhimanyu Garg, Hongwen Zhou
BACKGROUND: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR). OBJECTIVE: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation. METHODS: Detailed family history and clinical and biochemical data were gathered from the pedigree...
October 26, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29231017/-forensic-application-of-huaxiatm-platinum-kit
#14
Y L Wang, X Sheng, M Li, Y L Chen, Y Lin, L Q Chen
OBJECTIVES: To investigate the genetic polymorphism of 23 autosomal STR loci of Huaxia™ Platinum kit in Chinese Han population, and to evaluate the forensic efficiency of Huaxia™ Platinum kit. METHODS: A total of 500 unrelated healthy individuals from Han population were genotyped with Huaxia™ Platinum kit. The frequency distribution and the parameter of population genetics of STR loci were analysed statistically. Huaxia™ Platinum kit was compared with other 7 commercial STR kits commonly seen at home and abroad in the number of STR loci, interior label, fluorescent mark, total number of alleles in Ladder and system effectiveness...
April 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29230991/-mutation-analysis-of-19-str-loci-in-20-723-cases-of-paternity-testing
#15
J Bi, J J Chang, M X Li, C Y Yu
OBJECTIVES: To observe and analyze the confirmed cases of paternity testing, and to explore the mutation rules of STR loci. METHODS: The mutant STR loci were screened from 20 723 confirmed cases of paternity testing by Goldeneye 20A system.The mutation rates, and the sources, fragment length, steps and increased or decreased repeat sequences of mutant alleles were counted for the analysis of the characteristics of mutation-related factors. RESULTS: A total of 548 mutations were found on 19 STR loci, and 557 mutation events were observed...
June 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29224585/long-term-implications-of-feed-energy-source-in-different-genetic-types-of-reproductive-rabbit-females-i-resource-acquisition-and-allocation
#16
A Arnau-Bonachera, C Cervera, E Blas, T Larsen, E Martínez-Paredes, L Ródenas, J J Pascual
To achieve functional but also productive females, we hypothesised that it is possible to modulate acquisition and allocation of animals from different genetic types by varying the main energy source of the diet. To test this hypothesis, we used 203 rabbit females belonging to three genetic types: H (n=66), a maternal line characterised by hyper-prolificacy; LP (n=67), a maternal line characterised by functional hyper-longevity; R (n=79), a paternal line characterised by growth rate. Females were fed with two isoenergetic and isoprotein diets differing in energy source: animal fat (AF) enhancing milk yield; cereal starch (CS) promoting body reserves recovery...
December 11, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29224584/long-term-implications-of-feed-energy-source-in-different-genetic-types-of-reproductive-rabbit-females-iii-fitness-and-productivity
#17
A Arnau-Bonachera, D Savietto, J J Pascual
The specialization process associated with genetic selection could be associated with functional disorders, affecting the reproductive success of females (fitness). We hypothesized that by modulating energy acquisition and allocation of females we could balance productivity and reproductive success. To test this hypothesis, we used 203 rabbit females belonging to three genetic types: H (n=66) maternal line specialized in prolificacy, LP (n=67) generalist maternal line, R (n=70) paternal line specialized in growth rate...
December 11, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29220824/extensive-geographical-and-social-structure-in-the-paternal-lineages-of-saudi-arabia-revealed-by-analysis-of-27-y-strs
#18
Yahya M Khubrani, Jon H Wetton, Mark A Jobling
Saudi Arabia's indigenous population is organized into patrilineal descent groups, but to date, little has been done to characterize its population structure, in particular with respect to the male-specific region of the Y chromosome. We have used the 27-STR Yfiler® Plus kit to generate haplotypes in 597 unrelated Saudi males, classified into five geographical regions (North, South, Central, East and West). Overall, Yfiler® Plus provides a good discrimination capacity of 95.3%, but this is greatly reduced (74...
December 2, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29218330/interactive-effects-of-parental-age-on-offspring-fitness-and-age-assortative-mating-in-a-wild-bird
#19
E Keith Bowers, Scott K Sakaluk, Charles F Thompson
Variation in parental age can have important consequences for offspring fitness and the structure of populations and disease transmission. However, our understanding of the effects of parental age on offspring in natural populations is limited. Here, we investigate consequences of parental age for offspring fitness and test for age-assortative mating in a short-lived bird, the house wren (Troglodytes aedon). Offspring immunoresponsiveness increased with maternal age and decreased with paternal age, but the strength of these effects varied with the age of one's mate...
June 2017: Journal of Experimental Zoology. Part A, Ecological and Integrative Physiology
https://www.readbyqxmd.com/read/29211324/non-invasive-prenatal-testing-for-fetal-inheritance-of-maternal-%C3%AE-thalassaemia-mutations-using-targeted-sequencing-and-relative-mutation-dosage-a-feasibility-study
#20
Li Xiong, Angela N Barrett, Rui Hua, Sherry S Y Ho, Li Jun, K C Allen Chan, Zhong Mei, Mahesh Choolani
OBJECTIVE: To evaluate whether targeted sequencing and relative mutation dosage can be used to correctly diagnose inheritance of maternal β-thalassaemia mutations in cell-free DNA. DESIGN: Feasibility study using samples collected in a prenatal clinic. SETTING: South East Asia. POPULATION: Couples where both partners were known to be carriers of one of four common β-thalassaemia mutations or an HbE mutation, and therefore at risk of carrying a fetus affected with β-thalassaemia...
December 6, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
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