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https://read.qxmd.com/read/30768665/a-microsatellite-multiplex-assay-for-profiling-pig-dna-in-mosquito-bloodmeals
#1
John B Keven, Edward D Walker, Patrick J Venta
Genetic profiling has been used to link mosquito bloodmeals to the individual humans, but this analysis has not been done for other mammalian bloodmeals. In this study, we describe a microsatellite-based method for identifying individual pigs in mosquito bloodmeals based on their unique multilocus genotypes. Eleven tetranucleotide microsatellites and a sex-specific marker were selected based on Smith-Waterman DNA sequence alignment scores from the reference genome and primers were designed with features that reduce primer dimers, promote complete adenylation, and enable fluorescent labeling of amplicons...
February 13, 2019: Journal of Medical Entomology
https://read.qxmd.com/read/30768402/adolescent-victimization-and-self-injurious-thoughts-and-behaviors-a-genetically-sensitive-cohort-study
#2
Jessie R Baldwin, Louise Arseneault, Avshalom Caspi, Terrie E Moffitt, Helen L Fisher, Candice L Odgers, Antony Ambler, Renate M Houts, Timothy Matthews, Dennis Ougrin, Leah S Richmond-Rakerd, Ryu Takizawa, Andrea Danese
OBJECTIVE: Victimized adolescents have elevated risk of self-injurious thoughts and behaviors. However, poor understanding of causal and non-causal mechanisms underlying this observed risk limits the development of interventions to prevent premature death among adolescents. We tested whether pre-existing family-wide and individual vulnerabilities account for victimized adolescents' elevated risk of self-injurious thoughts and behaviors. METHOD: Participants were 2,232 British children followed from birth to age 18 as part of the Environmental Risk (E-Risk) Longitudinal Twin Study...
December 11, 2018: Journal of the American Academy of Child and Adolescent Psychiatry
https://read.qxmd.com/read/30768229/optical-coherence-tomography-angiography-of-rpgr-associated-retinitis-pigmentosa-suggests-foveal-avascular-zone-is-a-biomarker-for-vision-loss
#3
Peter H Tang, Ruben Jauregui, Stephen H Tsang, Alexander G Bassuk, Vinit B Mahajan
RPGR-associated retinitis pigmentosa (RP) is a progressive disease with retina degeneration. Optical coherence tomography angiography (OCTA) is an imaging technique that provides novel insights. The authors report two affected male siblings who underwent OCTA imaging. The area of the foveal avascular zone (FAZ) was measured. Although the younger sibling exhibited more advanced clinical disease, his visual acuity was superior to his older sibling. OCTA imaging revealed a better preserved FAZ in the younger sibling as the reason for this...
February 1, 2019: Ophthalmic Surgery, Lasers & Imaging Retina
https://read.qxmd.com/read/30767899/depdc5-mutation-and-familial-focal-epilepsy-with-variable-foci-genotype-and-phenotype-of-a-family
#4
Marina Aberastury, Romina Fernández, Marta Córdoba, Betiana Comas, Martín Peralta, Guillermo Agosta, Marcelo Kauffman, Walter Silva
Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30767897/eeg-of-asymptomatic-first-degree-relatives-of-patients-with-juvenile-myoclonic-childhood-absence-and-rolandic-epilepsy-a-systematic-review-and-meta-analysis
#5
Mariam Tashkandi, Duaa Baarma, Andrea C Tricco, Cyrus Boelman, Reem Alkhater, Berge A Minassian
Rolandic (RE), childhood absence (CAE) and juvenile myoclonic (JME) epilepsy encompass centrotemporal sharp waves, 3-Hz spike waves and >3-Hz spike or polyspike waves, respectively. Evidence abounds for genetic roles in all three syndromes, yet involved genes for the vast majority of patients remain unknown. It has long been proposed that while each disease is genetically complex, its specific EEG trait may represent a genetically simpler endophenotype. This meta-analysis of the literature focuses on the frequency of EEG traits in clinically unaffected first-degree relatives towards determining inheritance patterns of the EEG endophenotypes...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30766797/infant-identical-triplets-presentation-of-human-parechovirus-type-3
#6
Bryan Weichelt, Elisabeth Hooper, Brian Chow
Introduction: Human parechovirus (HPeV) infections appear common across age groups, and transmission is likely fecal-oral and through respiratory secretions. Cyclical and seasonal patterns have been described; however, HPeV has likely been previously underdiagnosed due to lack of commercially available diagnostic testing. Presentation of Case: We present identical triplets contracting HPeV Type 3. Discussion: The clinical presentation, similar to echoviruses, is broad and includes asymptomatic shedding, severe pulmonary and neurologic disease, and disseminated intravascular coagulation...
2019: IDCases
https://read.qxmd.com/read/30766016/surviving-siblings-illnesses-treatments-health-services-over-13-months-after-a-sibling-s-death
#7
Dorothy A Brooten, JoAnne M Youngblut, Rosa M Roche, Carmen L Caicedo, Timothy F Page
Two million children experience sibling death annually and have problems that require clinical intervention although few receive such help. Effects on surviving siblings' mental health has been well documented, however their physical health has not. This study described surviving siblings' illnesses, treatments/health services at 2, 4, 6, and 13 months post-sibling death. The 132 children (76 girls, 56 boys, M 10.6 years, SD 3.43); 30% Hispanic, 51% Black, 26% White were recruited via hospital ICUs and published obituaries...
June 2018: Journal of Child and Family Studies
https://read.qxmd.com/read/30765858/integrated-analysis-of-mrnas-and-long-noncoding-rnas-in-the-semen-from-holstein-bulls-with-high-and-low-sperm-motility
#8
Xiuge Wang, Chunhong Yang, Fang Guo, Yaran Zhang, Zhihua Ju, Qiang Jiang, Xueming Zhao, Yong Liu, Han Zhao, Jinpeng Wang, Yan Sun, Changfa Wang, Huabin Zhu, Jinming Huang
Sperm motility is the main index used to assess the quality of bull semen. It may also be used to evaluate the fertility potential of bulls. Protein-coding mRNA and long noncoding RNA (lncRNA) participate in the regulation of spermatogenesis. Here, we employed strand-specific RNA sequencing to profile the semen transcriptome (mRNA and lncRNA) of six paired full-sibling Holstein bulls with divergent sperm motility and to determine the functions of mRNA and lncRNA in sperm motility. Among 20,875 protein-encoding genes detected in semen, 19 were differentially expressed between the high sperm motility group (H: H1, H2, and H3) and low sperm motility group (L: L1, L2, and L3)...
February 14, 2019: Scientific Reports
https://read.qxmd.com/read/30765297/utilizing-a-board-game-to-measure-family-parenting-factors-and-childhood-obesity-risk
#9
Jerica M Berge, Susan Telke, Allan Tate, Amanda Trofholz
OBJECTIVE: To describe a direct observational approach (ie, interactive family board game) to measure family functioning and parenting behaviors of relevance to child weight and weight-related behaviors and to examine family functioning and parenting factors from multiple family dyads (eg, siblings, parent-child) and their associations with child weight and weight-related behaviors. DESIGN: Cross-sectional, mixed-methods study. SETTING: Two home visits were conducted with families 10 days apart with a 7-day observational period between home visits...
February 11, 2019: Journal of Nutrition Education and Behavior
https://read.qxmd.com/read/30764791/sibship-physical-activity-and-sedentary-behavior-a-longitudinal-observational-study-among-mexican-heritage-sibling-dyads
#10
Kelly R Ylitalo, Christina N Bridges, Mariela Gutierrez, Joseph R Sharkey, M Renée Umstattd Meyer
BACKGROUND: Shared genetic and environmental factors suggest that family relationships are important predictors of obesity-related behaviors, yet little is known about how siblings influence physical activity and sedentary behaviors. This study examined physical activity and sedentary behavior between sibling dyads across summer and fall time points and determined if birth order and gender modify the relationship between sibling behaviors. METHODS: Mexican-heritage families residing in colonias along the United States-Mexico border were recruited using promotoras de salud to participate in summer and school year surveys...
February 14, 2019: BMC Public Health
https://read.qxmd.com/read/30763769/hla-g-allelic-distribution-in-sardinian-children-with-autism-spectrum-disorders-a-replication-study
#11
Franca R Guerini, Elisabetta Bolognesi, Stefano Sotgiu, Alessandra Carta, Claudia Clerici, Matteo Chiappedi, Alessandro Ghezzo, Michela Zanette, Maria Martina Mensi, Maria Paola Canevini, Milena Zanzottera, Cristina Agliardi, Andrea Saul Costa, Umberto Balottin, Mario Clerici
Recent results show that in mainland Italian children with Autism spectrum disorder (ASD), HLA-G coding alleles distribution is skewed and an association between HLA-G*01:05N and ASD is present. Herein, in an independent cohort of Sardinian ASD (sASD) children and their relatives, we verify whether HLA-G allele association with ASD could be confirmed in this genetically peculiar insular population. One hundred children with a diagnosis of ASD, born in Sardinia and of Sardinian descent, 91 of their mothers, and 40 of their healthy siblings were enrolled...
February 11, 2019: Brain, Behavior, and Immunity
https://read.qxmd.com/read/30762591/case-report-of-two-siblings-with-type-2a-von-willebrand-disease-involving-a-novel-mutation-within-the-calcium-binding-site-of-the-a2-domain-of-von-willebrand-factor
#12
Henry P Igid, Kyaw Z Thein, Michael Castine, Donald P Quick
: Calcium-binding at the A2 domain protects von Willebrand factor (VWF) from cleavage by a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS13) and is coordinated by five important residues (p.Asp1596, p.Arg1597, p.Ala1600, p.Asn1602, and p.Asp1498). Only variants of p.Arg1597 resulting in type 2A von Willebrand disease have been reported. We report a novel VWF variant, a heterozygous single nucleotide change, c.4493A>G, occurring at the p.Asp1498 residue of the calcium-binding site of the A2 domain in two sisters with type 2A von Willebrand disease...
February 11, 2019: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://read.qxmd.com/read/30762414/trouble-in-the-nest-antecedents-of-sibling-bullying-victimization-and-perpetration
#13
Slava Dantchev, Dieter Wolke
Sibling bullying is highly prevalent and has been found to have adverse effects on mental health lasting into early adulthood. What is unknown is what predicts sibling bullying roles (uninvolved, victim, bully-victim and bully). This study aimed to identify precursors of sibling bullying roles in middle childhood using a large sample of 6,838 children from the Avon Longitudinal Study of Parents and Children, a prospective United Kingdom birth-cohort. The relative associations of four sets of precursors: (a) structural family characteristics, (b) parent and parenting characteristics, (c) early social experiences, and (d) child individual differences was assessed before 8 years of age...
February 14, 2019: Developmental Psychology
https://read.qxmd.com/read/30761538/pollination-effectiveness-in-a-generalist-plant-adding-the-genetic-component
#14
Javier Valverde, Francisco Perfectti, José María Gómez
The pollination effectiveness of a flower visitor has traditionally been measured as the product of a quantity component that depends on the frequency of interaction and a quality component that measures the per-visit effects on plant reproduction. We propose that this could be complemented with a genetic component informing about each pollinator's contribution to the genetic diversity and composition of the plant progeny. We measured the quantity and quality components of effectiveness of most pollinator functional groups of the generalist herb Erysimum mediohispanicum...
February 14, 2019: New Phytologist
https://read.qxmd.com/read/30760880/a-12-kb-structural-variation-in-progressive-myoclonic-epilepsy-was-newly-identified-by-long-read-whole-genome-sequencing
#15
Takeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, Ayako Umemura, Katsushi Tokunaga, Yosuke Kawai, Minoru Nakamura, Masao Nagasaki, Kengo Kinoshita, Yasunobu Okamura, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto
We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses of a devastating neurodegenerative phenotype of two affected siblings were highly suggestive of a genetic etiology, which indicates that the survey of genetic variation by whole-exome sequencing was not comprehensive. To investigate the presence of a variant that remained unrecognized by standard genetic testing, PacBio long-read sequencing was performed...
February 13, 2019: Journal of Human Genetics
https://read.qxmd.com/read/30758763/risk-factors-for-recurrent-injuries-from-physical-violence-among-african-men-in-the-gambia
#16
Paul Bass, Wen-Yu Yu, Edrisa Sanyang, Mau-Roung Lin
While men are known to be at high risk of recurrent injuries from physical violence, the risk factors in African men have not been investigated. We conducted a matched case-control study to identify factors associated with recurrent injuries from physical violence in The Gambia. Eligible participants were injured male patients aged ≥ 15 years. Over the 12-month study period, 257 cases with recurrent injuries from physical violence, and 257 control patients each from two control groups (violence controls and nonviolence controls) were recruited from eight emergency rooms located in six districts of the Greater Banjul Metropolitan Area, The Gambia...
February 13, 2019: Journal of Community Health
https://read.qxmd.com/read/30756203/hearing-siblings-voices-exploring-the-online-support-needs-of-siblings-of-children-with-a-chronic-condition
#17
M M H Joosten, H Maurice-Stam, L Scholten, M A Grootenhuis
BACKGROUND: Siblings of children and adolescents with a chronic condition are at risk for developing psychosocial problems. It is important, that they receive appropriate support according to their needs. A sibling-specific module of an existing online intervention (Op Koers Online) for adolescents with a chronic condition might be an appropriate way to offer psychosocial support to siblings. The aim of the current study is to identify siblings' online support needs in order to develop a sibling-specific module of the existing Op Koers Online intervention...
February 12, 2019: Journal of patient-reported outcomes
https://read.qxmd.com/read/30755425/-when-you-hear-hooves-think-zebras-not-horses-two-challenging-cases-of-interstitial-lung-disease-ild
#18
Marissa O'Callaghan, Aurelie Fabre, Michael Keane, Timothy J McDonnell
Our case series describes two siblings with complex fibrosing lung diseases. The first patient was initially given a diagnosis of sarcoidosis based on imaging and exclusion of alternative diagnoses. A number of years after diagnosis, he had rapid deterioration of his disease and following surgical lung biopsy, his lung fibrosis was re-classified as chronic hypersensitivity pneumonitis (cHP) with a usual interstitial pneumonia pattern. He subsequently underwent successful lung transplantation. The second patient presented with rapidly progressing exertional dyspnoea...
February 11, 2019: BMJ Case Reports
https://read.qxmd.com/read/30755342/early-enzyme-replacement-therapy-enables-a-successful-hematopoietic-stem-cell-transplantation-in-mucopolysaccharidosis-type-ih-divergent-clinical-outcomes-in-two-japanese-siblings
#19
Narutoshi Yamazaki, Motomichi Kosuga, Kazuhiro Kida, Go Takei, Yasuyuki Fukuhara, Hiroshi Matsumoto, Masayoshi Senda, Akihito Honda, Akira Ishiguro, Takashi Koike, Hiromasa Yabe, Torayuki Okuyama
Mucopolysaccharidosis type IH (MPS IH, Hurler syndrome) is a progressive, multisystem autosomal recessive lysosomal storage disorder resulting in the consequent accumulation of glycosaminoglycans. It is well recognized that early hematopoietic stem cell transplantation (HSCT) prevents neurocognitive decline in MPS IH. We followed the divergent clinical course in two Japanese siblings with MPS IH. The elder sister (proband) received a diagnosis of MPS IH at 6 months old. At the time of this diagnosis enzyme replacement therapy (ERT) was not available in Japan...
February 9, 2019: Brain & Development
https://read.qxmd.com/read/30753453/the-health-of-children-conceived-by-art-the-chicken-or-the-egg
#20
Sine Berntsen, Viveca Söderström-Anttila, Ulla-Britt Wennerholm, Hannele Laivuori, Anne Loft, Nan B Oldereid, Liv Bente Romundstad, Christina Bergh, Anja Pinborg
Worldwide, more than 7 million children have now been born after ART: these delivery rates are steadily rising and now comprise 2-6% of births in the European countries. To achieve higher pregnancy rates, the transfer of two or more embryos was previously the gold standard in ART. However, recently the practise has moved towards a single embryo transfer policy to avoid multiple births. The positive consequences of the declining multiple birth rates after ART are decreasing perinatal risks and overall improved health for the ART progeny...
February 12, 2019: Human Reproduction Update
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