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Påvel G Lindberg, Maxime Térémetz, Sylvain Charron, Oussama Kebir, Agathe Saby, Narjes Bendjemaa, Stéphanie Lion, Benoît Crépon, Raphaël Gaillard, Catherine Oppenheim, Marie-Odile Krebs, Isabelle Amado
Inhibition is considered a key mechanism in schizophrenia. Short-latency intracortical inhibition (SICI) in the motor cortex is reduced in schizophrenia and is considered to reflect locally deficient γ-aminobutyric acid (GABA)-ergic modulation. However, it remains unclear how SICI is modulated during motor inhibition and how it relates to neural processing in other cortical areas. Here we studied motor inhibition Stop signal task (SST) in stabilized patients with schizophrenia (N = 28), healthy siblings (N = 21) and healthy controls (n = 31) matched in general cognitive status and educational level...
September 30, 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Laura M G Meems, Hasan Mahmud, Hendrik Buikema, Jorg Tost, Sven Michel, Janny Takens, Rikst N Verkaik-Schakel, Inge Vreeswijk-Baudoin, Irene V Mateo-Leach, Torsten Plosch, Rudolf A de Boer
Vitamin D deficiency is one of the most common nutritional deficiencies worldwide. Maternal vitamin D deficiency is associated with increased susceptibility to hypertension in offspring but the reasons for this remain unknown. The aim of this study was to determine if parental vitamin D deficiency leads to altered DNA methylation in offspring that may relate to hypertension. Male and female Sprague-Dawley rats were fed a standard or vitamin D depleted diet. After 10 weeks, non-sibling rats were mated. The conceived pups received standard chow...
October 21, 2016: American Journal of Physiology. Heart and Circulatory Physiology
Gabriela Albuquerque, Milton Severo, Andreia Oliveira
OBJECTIVE: To assess early life characteristics associated with appetite-related eating behaviors in 7-year-old children. STUDY DESIGN: The participants are children from the population-based birth cohort Generation XXI. Data on sociodemographics, health, and lifestyles and anthropometrics were collected at birth, and 4- and 7-year-old evaluations. A Portuguese version of the Children's Eating Behavior Questionnaire was completed by mothers (n = 3562 children) with children aged 7 years old...
October 18, 2016: Journal of Pediatrics
S Lühl, H Bode, W Schlötzer, M Bartsakoulia, R Horvath, A Abicht, M Stenzel, J Kirschner, S C Grünert
BACKGROUND: Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been reported so far. Characteristic clinical features comprise neonatal lactic acidosis, severe encephalopathy, intractable seizures, feeding problems and profound developmental delay. Most patients show typical neuroradiologic abnormalities including cerebellar hypoplasia and progressive pontocerebellar atrophy...
October 21, 2016: Orphanet Journal of Rare Diseases
Shang-Ju Li, Abraham Flaxman, Riyadh Lafta, Lindsay Galway, Tim K Takaro, Gilbert Burnham, Amy Hagopian
OBJECTIVES: We estimated war-related Iraqi mortality for the period 1980 through 1993. METHOD: To test our hypothesis that deaths reported by siblings (even dating back several decades) would correspond with war events, we compared sibling mortality reports with the frequency of independent news reports about violent historic events. We used data from a survey of 4,287 adults in 2000 Iraqi households conducted in 2011. Interviewees reported on the status of their 24,759 siblings...
2016: PloS One
Iulia Bădescu, M Anne Katzenberg, David P Watts, Daniel W Sellen
OBJECTIVES: Determining nutritional development in wild primates is difficult through observations because confirming dietary intake is challenging. Physiological measures are needed to determine the relative contributions of maternal milk and other foods at different ages, and time of weaning. We used fecal stable carbon and nitrogen isotopes (δ(13) C, δ(15) N) and fecal nitrogen concentrations (%N) from wild chimpanzees at Ngogo, Uganda, to derive physiological dietary indicators during the transition from total reliance on maternal milk to adult foods after weaning...
October 21, 2016: American Journal of Physical Anthropology
Karina A F S Miller, Luciana S Branco-de-Almeida, Sandra Wolf, Nicole Hovencamp, Tina Treloar, Peter Harrison, Ikramuddin Aukhil, Yan Gong, Luciana M Shaddox
AIM: To evaluate long-term clinical response to periodontal therapy and maintenance in localized aggressive periodontitis (LAP). MATERIALS AND METHODS: One hundred forty-one African-Americans diagnosed with LAP, aged 5-25 years, were enrolled. Patients underwent periodontal mechanical debridement plus one week of amoxicillin/metronidazole. Mechanical therapy was repeated as needed and clinical parameters were recorded at baseline, 3, 6, 12, 18, and 24 months, and 2 additional annual follow-up visits after treatment...
October 21, 2016: Journal of Clinical Periodontology
Brody Holohan, Wanil Kim, Tsung-Po Lai, Hirotoshi Hoshiyama, Ning Zhang, Anas M Alazami, Woodring E Wright, M Stephen Meyn, Fowzan S Alkuraya, Jerry W Shay
BACKGROUND: Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation. METHODS: Because human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in that organism, we investigated the effects of LARP7 silencing in human cells as well as in two distinct families with Alazami syndrome (loss of function of LARP7)...
October 17, 2016: BMC Genomics
Bengt Zöller, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist
BACKGROUND: Whether high cardiovascular fitness is associated with reduced risk of venous thromboembolism (VTE) is unknown. The present study aims to determine whether high cardiovascular fitness reduces the risk of VTE. METHODS: A Swedish cohort of male conscripts (n = 773925) born in 1954-1970 with no history of previous VTE were followed from enlistment (1972-1990) until 2010. Data on cardiovascular fitness using a cycle ergonometric test (maximal aerobic workload in Watt [Wmax]) at conscription were linked with national hospital register data and the Multi-Generation Register...
October 21, 2016: Annals of Medicine
Bengt Zöller, Xinjun Li, Henrik Ohlsson, Jianguang Ji, Ashfaque A Memon, Peter J Svensson, Karolina Palmér, Björn Dahlbäck, Jan Sundquist, Kristina Sundquist
Familial aggregation (clustering) of venous thromboembolism (VTE) is the clustering of VTE within a family. Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE. The epidemiology of the familial aggregation of VTE exhibits typical characteristics of complex traits. The family history of VTE in first-degree relatives is associated with a two to three times increased familial relative risk (FRR)...
October 20, 2016: Seminars in Thrombosis and Hemostasis
Jeffrey J Widrick, Matthew Alexander, Benjamin Sanchez, Devin Gibbs, Genri Kawahara, Alan Beggs, Louis Kunkel
Sapje zebrafish lack the protein dystrophin and are the smallest vertebrate model of Duchenne muscular dystrophy (DMD). Their small size makes them ideal for large-scale drug discovery screens. However, the extent that sapje mimic the muscle dysfunction of higher vertebrate models of DMD is unclear. We used an optical birefringence assay to differentiate affected dystrophic sapje larvae from their unaffected siblings and then studied trunk muscle contractility at 4-7 days post fertilization. Preparation cross-sectional area (CSA) was similar for affected and unaffected larvae, yet tetanic forces of affected preparations were only 30-60% of normal...
October 7, 2016: Physiological Genomics
Y Yu, S Cnattingius, J Olsen, E T Parner, M Vestergaard, Z Liew, N Zhao, J Li
BACKGROUND: The loss of a close relative is one of the most stressful life events. In pregnancy, this experience has been associated with a higher risk of fetal death and under-five mortality, but little is known about potential effects on long-term mortality in offspring. We examined the association between prenatal maternal bereavement and mortality in a cohort of 5.3 million children followed until up to 37 years of age. METHOD: The population-based cohort study included 5 253 508 live singleton births in Denmark (1973-2004) and Sweden (1973-2006)...
October 20, 2016: Psychological Medicine
Carrie Guy, Xianfu Wang, Xianglan Lu, Jin Lu, Shibo Li
We report a half-sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression was seen and the significance of deletion of 4p16.1 remains unclear.
October 2016: Clinical Case Reports
Fabien Aubret, Florent Bignon, Philippe J R Kok, Gaëlle Blanvillain
Egg-clustering and communal nesting behaviours provide advantages to offspring. Advantages range from anti-predatory benefits, maintenance of moisture and temperature levels within the nest, preventing the eggs from rolling, to enabling hatching synchrony through embryo communication. It was recently suggested that embryo communication may extend beyond development fine-tuning, and potentially convey information about the quality of the natal environment as well as provide an indication of forthcoming competition amongst siblings, conspecifics or even heterospecifics...
October 20, 2016: Scientific Reports
Ana María Hernández-Hernández, Dolores Viga-de Alva, Rodrigo Huerta-Quintanilla, Efrain Canto-Lugo, Hugo Laviada-Molina, Fernanda Molina-Segui
We use complex network theory to study the differences between the friendship concepts in elementary school and university students. Four friendship networks were identified from surveys. Three of these networks are from elementary schools; two are located in the rural area of Yucatán and the other is in the urban area of Mérida, Yucatán. We analyzed the structure and the communities of these friendship networks and found significant differences among those at the elementary schools compared with those at the university...
2016: PloS One
Michel J Massaad, Jia Zhou, Daisuke Tsuchimoto, Janet Chou, Haifa Jabara, Erin Janssen, Salomé Glauzy, Brennan G Olson, Henner Morbach, Toshiro K Ohsumi, Klaus Schmitz, Markianos Kyriacos, Jennifer Kane, Kumiko Torisu, Yusaku Nakabeppu, Luigi D Notarangelo, Eliane Chouery, Andre Megarbane, Peter B Kang, Eman Al-Idrissi, Hasan Aldhekri, Eric Meffre, Masayuki Mizui, George C Tsokos, John P Manis, Waleed Al-Herz, Susan S Wallace, Raif S Geha
Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we have identified a homozygous missense mutation in the gene encoding the base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity in 3 siblings from a consanguineous family. The NEIL3 mutation was associated with fatal recurrent infections, severe autoimmunity, hypogammaglobulinemia, and impaired B cell function in these individuals. The same homozygous NEIL3 mutation was also identified in an asymptomatic individual who exhibited elevated levels of serum autoantibodies and defective peripheral B cell tolerance, but normal B cell function...
October 17, 2016: Journal of Clinical Investigation
Myeongjee Lee, Marie Reilly, Linda Sofie Lindström, Kamila Czene
Family history of cancer is a well-known risk factor but the role of family history in survival is less clear. The aim of this study was to investigate the association between family history and cancer survival for the common cancers in Sweden. Using the Swedish population-based registers, patients diagnosed with the most common cancers were followed for cancer-specific death during 1991-2010. We used multivariate proportional hazards (Cox) regression models to contrast the survival of patients with a family history of cancer (individuals whose parent or sibling had a concordant cancer) to the survival of patients without a family history...
October 19, 2016: International Journal of Cancer. Journal International du Cancer
Cheng-I Yang, Min-Yun Hsieh, Li-Hung Lee, Shu-Ling Chen
Adult clients with schizophrenia are primarily cared for by their ageing parents. When the parents become ill or die, siblings are considered to be responsible for taking over the caregiving role. However, little is known about caregiving for a sibling with schizophrenia, and no studies have explored this phenomenon in an Asian context. The aim of the present descriptive, qualitative study was to understand the experiences of being the primary caregiver of a sibling with schizophrenia. Data were collected from 10 siblings of currently-hospitalized patients diagnosed with schizophrenia using semistructured, in-depth interviews...
October 19, 2016: International Journal of Mental Health Nursing
Bret Pasch, Rachel Sanford, Steven M Phelps
Interspecific aggression between sibling species may enhance discrimination of competitors when recognition errors are costly, but proximate mechanisms mediating increased discriminative ability are unclear. We studied behavioral and neural mechanisms underlying responses to conspecific and heterospecific vocalizations in Alston's singing mouse (Scotinomys teguina), a species in which males sing to repel rivals. We performed playback experiments using males in allopatry and sympatry with a dominant heterospecific (Scotinomys xerampelinus) and examined song-evoked induction of egr-1 in the auditory system to examine how neural tuning modulates species-specific responses...
October 18, 2016: Animal Cognition
Jin S Xiong, Steven E McKeand, Fikret Isik, Jill Wegrzyn, David B Neale, Zhao-Bang Zeng, Luciano da Costa E Silva, Ross W Whetten
BACKGROUND: The use of wood as an industrial raw material has led to development of plantation forestry, in which trees are planted, managed, and harvested as crops. The productivity of such plantations often exceeds that of less-intensively-managed forests, and land managers have the option of choosing specific planting stock to produce specific types of wood for industrial use. Stem forking, or division of the stem into two or more stems of roughly equal size, is a character trait important in determining the quality of the stem for production of solid wood products...
October 18, 2016: BMC Genetics
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