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https://www.readbyqxmd.com/read/28938649/family-based-whole-exome-sequencing-of-atopic-dermatitis-complicated-with-cataracts
#1
Wenxin Luo, Wangdong Xu, Lin Xia, Dan Xie, Lin Wang, Zaipei Guo, Yue Cheng, Yi Liu, Weimin Li
BACKGROUND: Atopic dermatitis (AD) is a common skin disorder with elevated prevalence. Cataract induced by AD rarely occurs in adolescent and young adult patients, which is also called atopic cataract. Using whole exome sequencing, we aimed to explore genetic alterations among AD and atopic cataract. RESULT: We recruited a 19 year-old Chinese male with AD accompanied with cataracts, his father with AD and his mother without AD or cataract. Through analysis of the exomic sequence of the 3 individuals from the same family, we identified that with respect to AD, there were 162 genes mutated in both this patient and his father but not in his mother...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938422/prepubertal-development-of-gonadotropin-releasing-hormone-gnrh-neuron-activity-is-altered-by-sex-age-and-prenatal-androgen-exposure
#2
Eden A Dulka, Suzanne M Moenter
Gonadotropin-releasing hormone (GnRH) neurons regulate reproduction though pulsatile hormone release. Disruption of GnRH release as measured via LH pulses occurs in polycystic ovary syndrome (PCOS), and in young hyperandrogenemic girls. In adult prenatally androgenized (PNA) mice, which exhibit many aspects of PCOS, increased LH is associated with increased GnRH neuron action potential firing. How GnRH neuron activity develops over the prepubertal period and whether or not this is altered by sex or prenatal androgen treatment are unknown...
September 15, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938259/hepatic-legionella-pneumophila-infection-in-an-infant-with-severe-combined-immunodeficiency
#3
Rotem Lapidot, Laila Alawdah, J R Köhler, Vera Paulson, Ofer Levy
Rare cases of extrapulmonary involvement in Legionella spp. infections have been described, mostly in immunocompromised adults. We report a case of a 2 month old male with reticular dysgenesis variant of severe combined immune deficiency (SCID) with multiple liver lesions. Core-needle biopsies of one liver lesion demonstrated Gram-negative bacilli and a broad-spectrum polymerase chain reaction (PCR) assay detected Legionella pneumophilia.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28938173/human-infants-understanding-of-social-imitation-inferences-of-affiliation-from-third-party-observations
#4
Lindsey J Powell, Elizabeth S Spelke
Imitation is ubiquitous in positive social interactions. For adult and child observers, it also supports inferences about the participants in such interactions and their social relationships, but the origins of these inferences are obscure. Do infants attach social significance to this form of interaction? Here we test 4- to 5.5-month-old infants' interpretation of imitation, asking if the imitative interactions they observe support inferences of social affiliation, across 10 experimental conditions that varied the modality of the imitation (movement vs...
September 19, 2017: Cognition
https://www.readbyqxmd.com/read/28937959/prenatal-fluoride-exposure-and-cognitive-outcomes-in-children-at-4-and-6-12-years-of-age-in-mexico
#5
Morteza Bashash, Deena Thomas, Howard Hu, E Angeles Martinez-Mier, Brisa N Sanchez, Niladri Basu, Karen E Peterson, Adrienne S Ettinger, Robert Wright, Zhenzhen Zhang, Yun Liu, Lourdes Schnaas, Adriana Mercado-García, Martha María Téllez-Rojo, Mauricio Hernández-Avila
BACKGROUND: Some evidence suggests that fluoride may be neurotoxic to children. Few of the epidemiologic studies have been longitudinal, had individual measures of fluoride exposure, addressed the impact of prenatal exposures or involved more than 100 participants. OBJECTIVE: Our aim was to estimate the association of prenatal exposure to fluoride with offspring neurocognitive development. METHODS: We studied participants from the Early Life Exposures in Mexico to Environmental Toxicants (ELEMENT) project...
September 19, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28937935/the-impact-of-the-2006-massachusetts-health-care-reform-law-on-spine-surgery-patient-payer-mix-status-and-age
#6
Nicolas W Villelli, Hong Yan, Jian Zou, Nicholas M Barbaro
OBJECTIVE Several similarities exist between the Massachusetts health care reform law of 2006 and the Affordable Care Act (ACA). The authors' prior neurosurgical research showed a decrease in uninsured surgeries without a significant change in surgical volume after the Massachusetts reform. An analysis of the payer-mix status and the age of spine surgery patients, before and after the policy, should provide insight into the future impact of the ACA on spine surgery in the US. METHODS Using the Massachusetts State Inpatient Database and spine ICD-9-CM procedure codes, the authors obtained demographic information on patients undergoing spine surgery between 2001 and 2012...
September 15, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28937597/total-antioxidant-capacity-from-dietary-supplement-decreases-the-likelihood-of-having-metabolic-syndrome-in-korean-adults
#7
Subeen Kim, YoonJu Song, Jung Eun Lee, Shinyoung Jun, Sangah Shin, Gyung-Ah Wie, Yoon Hee Cho, Hyojee Joung
This study was conducted to estimate antioxidant vitamin intake and total antioxidant capacity (TAC) from diet and dietary supplements and to examine their association with metabolic syndrome (MetS) in Korean adults. Out of 6308 adults 19~64 years old from the 2010~2011 Korea National Health and Nutrition Examination Survey, 1847 adults were classified as dietary supplement users and the other 4461 adults were classified as non-users. Antioxidant intake and TAC from diet and dietary supplements were estimated using dietary intake data and linked with the antioxidant and TAC database for common Korean foods...
September 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28937467/does-the-prevalence-of-spondylolysis-and-spina-bifida-occulta-observed-in-pediatric-patients-remain-stable-in-adults
#8
Julio Urrutia, Tomas Zamora, Jorge Cuellar
STUDY DESIGN: Cross-sectional study. OBJECTIVE: To compare the prevalence of lumbar spondylolysis and spina bifida occulta (SBO) in pediatric and adult populations. SUMMARY OF BACKGROUND DATA: The prevalence of spondylolysis reported from radiograph-based studies in children had been questioned in computed tomography (CT)-based studies in adults; however, a recent CT-based study in pediatric patients has confirmed the previously reported data in pediatric populations...
October 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28937300/infants-processing-of-prosodic-cues-electrophysiological-evidence-for-boundary-perception-beyond-pause-detection
#9
Julia Holzgrefe-Lang, Caroline Wellmann, Barbara Höhle, Isabell Wartenburger
Infants as young as six months are sensitive to prosodic phrase boundaries marked by three acoustic cues: pitch change, final lengthening, and pause. Behavioral studies suggest that a language-specific weighting of these cues develops during the first year of life; recent work on German revealed that eight-month-olds, unlike six-month-olds, are capable of perceiving a prosodic boundary on the basis of pitch change and final lengthening only. The present study uses Event-Related Potentials (ERPs) to investigate the neuro-cognitive development of prosodic cue perception in German-learning infants...
September 1, 2017: Language and Speech
https://www.readbyqxmd.com/read/28936198/social-isolation-modulates-clock-protein-and-beta-catenin-expression-pattern-in-gonadotropin-inhibitory-hormone-neurons-in-male-rats
#10
Chuin Hau Teo, Tomoko Soga, Ishwar S Parhar
Postweaning social isolation reduces the amplitude of the daily variation of CLOCK protein in the brain and induces lower reproductive activity. Gonadotropin-inhibitory hormone (GnIH) acts as an inhibitor in the reproductive system and has been linked to stress. Social isolation has been shown to lower neuronal activity of GnIH-expressing neurons in the dorsomedial hypothalamus (DMH). The exact mechanism by which social isolation may affect GnIH is still unclear. We investigated the impact of social isolation on regulatory cellular mechanisms in GnIH neurons...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28936193/video-head-impulse-tests-with-a-remote-camera-system-normative-values-of-semicircular-canal-vestibulo-ocular-reflex-gain-in-infants-and-children
#11
Sylvette R Wiener-Vacher, Sidney I Wiener
The video head impulse test (VHIT) is widely used to identify semicircular canal function impairments in adults. But classical VHIT testing systems attach goggles tightly to the head, which is not tolerated by infants. Remote video detection of head and eye movements resolves this issue and, here, we report VHIT protocols and normative values for children. Vestibulo-ocular reflex (VOR) gain was measured for all canals of 303 healthy subjects, including 274 children (aged 2.6 months-15 years) and 26 adults (aged 16-67)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28936132/architectural-style-and-green-spaces-predict-older-adults-evaluations-of-residential-facilities
#12
Veronica Cerina, Ferdinando Fornara, Sara Manca
The purpose of this study was to analyse the effects of residential facilities' design features on older adults' psychosocial responses. Participants (N = 192) were over 65-year-old residents who were randomly exposed to different experimental scenarios concerning a hypothetical residential facility for older adults, using a 3 × 2 between-subjects design (i.e. home-like vs. hotel-like vs. usual-standard architectural style; presence vs. absence of green spaces). After the experimental session, participants were asked to fill in a questionnaire that measured their attitudes towards short- and long-term relocation, anticipated residential satisfaction with the facility, and feelings of broken home attachment...
September 2017: European Journal of Ageing
https://www.readbyqxmd.com/read/28936028/social-support-and-postpartum-depression-revisited-the-traditional-female-role-as-moderator-among-mexican-women
#13
Analia F Albuja, M Asunción Lara, Laura Navarrete, Lourdes Nieto
Women who lack social support tend to have a higher risk of postpartum depression. The present study examined the traditional female role, understood here as the adoption of passive and submissive traits specific to Mexican women, as another risk factor for postpartum depressive symptomatology that interacts with social support. Using two waves of data from a longitudinal study of 210 adult Mexican women (20-44 years-old, Mage = 29.50 years, SD = 6.34), we found that lacking social support during the third trimester of their pregnancy was associated with greater depressive symptoms at 6 months in the postpartum, although this relationship depended on the level of endorsement of the traditional female role during pregnancy...
August 2017: Sex Roles
https://www.readbyqxmd.com/read/28935806/infants-make-more-attempts-to-achieve-a-goal-when-they-see-adults-persist
#14
Julia A Leonard, Yuna Lee, Laura E Schulz
Persistence, above and beyond IQ, is associated with long-term academic outcomes. To look at the effect of adult models on infants' persistence, we conducted an experiment in which 15-month-olds were assigned to one of three conditions: an Effort condition in which they saw an adult try repeatedly, using various methods, to achieve each of two different goals; a No Effort condition in which the adult achieved the goals effortlessly; or a Baseline condition. Infants were then given a difficult, novel task. Across an initial study and two preregistered experiments (N = 262), infants in the Effort condition made more attempts to achieve the goal than did infants in the other conditions...
September 22, 2017: Science
https://www.readbyqxmd.com/read/28935354/anti-n-methyl-d-aspartate-receptor-encephalitis-in-children-of-central-south-china-clinical-features-treatment-influencing-factors-and-outcomes
#15
Ying Wang, Weixi Zhang, Jinghua Yin, Qianjin Lu, Fei Yin, Fang He, Jing Peng
BACKGROUND AND PURPOSE: We analyzed the clinical manifestations of children with anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis in Central South China and the factors influencing the effectiveness of treatment. METHODS: A retrospective study of children (0-14years old) with anti-NMDAR encephalitis in Central South China was carried out from March 2014 to November 2016. Demographics, clinical features, treatment, outcome, and the factors influencing the effectiveness of treatment were reviewed...
September 11, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28935172/a-pediatric-case-with-peripheral-facial-nerve-palsy-caused-by-a-granulomatous-lesion-associated-with-cat-scratch-disease
#16
Chizuko Nakamura, Yuji Inaba, Keiko Tsukahara, Mie Mochizuki, Emi Sawanobori, Yozo Nakazawa, Kouki Aoyama
BACKGROUND: Cat scratch disease is a common infectious disorder caused by Bartonella henselae that is transmitted primarily by kittens. It typically exhibits a benign and self-limiting course of subacute regional lymphadenopathy and fever lasting two to eight weeks. The most severe complication of cat scratch disease is involvement of the nervous system, such as encephalitis, meningitis, and polyneuritis. Peripheral facial nerve palsy associated with Bartonella infection is rare; few reported pediatric and adult cases exist and the precise pathogenesis is unknown...
September 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28934719/exposure-to-road-railway-and-aircraft-noise-and-arterial-stiffness-in-the-sapaldia-study-annual-average-noise-levels-and-temporal-noise-characteristics
#17
Maria Foraster, Ikenna C Eze, Emmanuel Schaffner, Danielle Vienneau, Harris Héritier, Simon Endes, Franziska Rudzik, Laurie Thiesse, Reto Pieren, Christian Schindler, Arno Schmidt-Trucksäss, Mark Brink, Christian Cajochen, Jean Marc Wunderli, Martin Röösli, Nicole Probst-Hensch
BACKGROUND: The impact of different transportation noise sources and noise environments on arterial stiffness remains unknown. OBJECTIVES: We evaluated the association between residential outdoor exposure to annual average road, railway, and aircraft noise levels, total noise intermittency (IR), and total number of noise events (NE) and brachial-ankle pulse wave velocity (baPWV) following a cross-sectional design. METHODS: We measured baPWV (meters/second) in 2,775 participants (49-81 y old) at the second follow-up (2010-2011) of the Swiss Cohort Study on Air Pollution and Lung and Heart Diseases in Adults (SAPALDIA)...
September 7, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28934698/visual-artificial-grammar-learning-in-dyslexia-a-meta-analysis
#18
Merel van Witteloostuijn, Paul Boersma, Frank Wijnen, Judith Rispens
BACKGROUND: Literacy impairments in dyslexia have been hypothesized to be (partly) due to an implicit learning deficit. However, studies of implicit visual artificial grammar learning (AGL) have often yielded null results. AIMS: The aim of this study is to weigh the evidence collected thus far by performing a meta-analysis of studies on implicit visual AGL in dyslexia. METHODS AND PROCEDURES: Thirteen studies were selected through a systematic literature search, representing data from 255 participants with dyslexia and 292 control participants (mean age range: 8...
September 18, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28934344/care-requirements-for-clients-who-present-after-rape-and-clients-who-presented-after-consensual-sex-as-a-minor-at-a-clinic-in-harare-zimbabwe-from-2011-to-2014
#19
Rebecca E Harrison, Linda Pearson, Michael Vere, Prosper Chonzi, Brian Tafadzwa Hove, Sharon Mabaya, Margaret Chigwamba, Juliana Nhamburo, Juliet Gura, An Vandeborne, Sandra Simons, Daphne Lagrou, Eva De Plecker, Rafael Van den Bergh
STUDY GOALS: To describe the differences between clients presenting after rape and clients who have consented to sex as a minor to an SGBV clinic in Harare, Zimbabwe, and how these differences affect their care requirements. BACKGROUND: Adolescents and adults presenting at the specialized Sexual and Gender Based Violence clinic in Harare are offered a standardised package of free medical and psychosocial care. Zimbabwe has an HIV prevalence of 14%, so prevention of HIV infection using PEP for those that present within 72 hours is a key part of the response...
2017: PloS One
https://www.readbyqxmd.com/read/28934290/the-oldest-known-digestive-system-consisting-of-both-paired-digestive-glands-and-a-crop-from-exceptionally-preserved-trilobites-of-the-guanshan-biota-early-cambrian-china
#20
Melanie J Hopkins, Feiyang Chen, Shixue Hu, Zhifei Zhang
The early Cambrian Guanshan biota of eastern Yunnan, China, contains exceptionally preserved animals and algae. Most diverse and abundant are the arthropods, of which there are at least 11 species of trilobites represented by numerous specimens. Many trilobite specimens show soft-body preservation via iron oxide pseudomorphs of pyrite replacement. Here we describe digestive structures from two species of trilobite, Palaeolenus lantenoisi and Redlichia mansuyi. Multiple specimens of both species contain the preserved remains of an expanded stomach region (a "crop") under the glabella, a structure which has not been observed in trilobites this old, despite numerous examples of trilobite gut traces from other Cambrian Lagerstätten...
2017: PloS One
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