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https://www.readbyqxmd.com/read/29150638/the-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome-associated-gene-rogdi-encodes-a-novel-presynaptic-protein
#1
Donatus Riemann, Rebecca Wallrafen, Thomas Dresbach
Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and hence the pathogenic mechanisms underlying Kohlschütter-Tönz syndrome have remained elusive. Using immunofluorescence of rat cultured hippocampal neurons and brain sections we find that Rogdi is enriched at synaptic sites...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150469/impact-of-preterm-birth-on-parental-separation-a-french-population-based-longitudinal-study
#2
Simon Nusinovici, Bertrand Olliac, Cyril Flamant, Jean-Baptiste Müller, Marion Olivier, Valérie Rouger, Géraldine Gascoin, Hélène Basset, Charlotte Bouvard, Jean-Christophe Rozé, Matthieu Hanf
OBJECTIVE: The objective of this study was to investigate both the effects of low gestational age and infant's neurodevelopmental outcome at 2 years of age on the risk of parental separation within 7 years of giving birth. DESIGN: Prospective. SETTING: 24 maternity clinics in the Pays-de-la-Loire region. PARTICIPANTS: This study included 5732 infants delivered at <35 weeks of gestation born between 2005 and 2013 who were enrolled in the population-based Loire Infant Follow-up Team cohort and who had a neurodevelopmental evaluation at 2 years...
November 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/29149756/residual-anxiety-may-be-associated-with-depressive-relapse-during-continuation-therapy-of-bipolar-ii-depression
#3
Lorenzo Lorenzo-Luaces, Jay D Amsterdam, Robert J DeRubeis
BACKGROUND: Anxiety symptoms are common in bipolar disorder. We explored the effect of anxiety on the outcome of acute and continuation pharmacotherapy of bipolar II depression. METHODS: Data were derived from a randomized double-blind 12-week acute (N = 129) and 6-month continuation (N = 55) comparison of venlafaxine versus lithium monotherapy in bipolar II depression in adults. We distinguished between the items of the Hamilton Rating Scale for Depression (HRSD) that capture depression vs...
November 8, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29146525/maternal-nutritional-determinants-of-colostrum-fatty-acids-in-the-eden-mother-child-cohort
#4
Martine Armand, Jonathan Y Bernard, Anne Forhan, Barbara Heude, Marie-Aline Charles
BACKGROUND & AIMS: Programming of infant development and later health may depend on early-milk polyunsaturated fatty acids (PUFA) contents, that are very variable between women for reasons not well elucidated. Indeed, a high n-6/n-3 PUFA in milk was associated with higher adiposity, arterial pressure and lower psychomotor scores in childhood. We aimed to explore the respective contribution of several maternal and perinatal factors to the variability of linoleic (LA), α-linolenic (ALA), arachidonic (AA), and docosahexaenoic (DHA) acid levels in early milk...
October 21, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29145901/-food-bolus-obstruction-of-the-oesophagus-or-ingestion-of-a-foreign-body-what-should-you-do
#5
P R Oosterwijk, M A C Meijssen
A food bolus obstruction of the oesophagus and foreign body ingestion are frequently encountered in common clinical practice. There is currently no guideline in the Netherlands for management of these problems. We present two cases to illustrate how these can be managed in line with European and American guidelines. The first patient was a 36-year-old female with total obstruction of the oesophagus by a food bolus. Biopsies taken following endoscopic removal showed eosinophilic infiltration of the mucosa and a subsequent diagnosis of eosinophilic oesophagitis...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#6
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29141041/effects-of-a-mixed-berry-beverage-on-cognitive-functions-and-cardiometabolic-risk-markers-a-randomized-cross-over-study-in-healthy-older-adults
#7
Anne Nilsson, Ilkka Salo, Merichel Plaza, Inger Björck
BACKGROUND: Berries and associated bioactive compounds, e.g. polyphenols and dietary fibre (DF), may have beneficial implications with respect to the metabolic syndrome, including also cognitive functions. The aim of this study was to evaluate effects on cognitive functions and cardiometabolic risk markers of 5 wk intervention with a mixture of berries, in healthy humans. METHODS: Forty healthy subjects between 50-70 years old were provided a berry beverage based on a mixture of berries (150g blueberries, 50g blackcurrant, 50g elderberry, 50g lingonberries, 50g strawberry, and 100g tomatoes) or a control beverage, daily during 5 weeks in a randomized crossover design...
2017: PloS One
https://www.readbyqxmd.com/read/29137721/current-robotic-curricula-for-surgery-residents-a-need-for-additional-cognitive-and-psychomotor-focus
#8
Courtney A Green, Hueylan Chern, Patricia S O'Sullivan
BACKGROUND: Current robot surgery curricula developed by industry were designed for expert surgeons. We sought to identify the robotic curricula that currently exist in general surgery residencies and describe their components. METHODS: We identified 12 residency programs with robotic curricula. Using a structured coding form to identify themes including sequence, duration, emphasis and assessment, we generated a descriptive summary. RESULTS: Curricula followed a similar sequence: learners started with online modules and simulation exercises, followed by bedside experience during R2-R3 training years, and then operative opportunities on the console in the final years of training...
November 6, 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#9
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#10
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29130122/arhgef9-mutations-in-epileptic-encephalopathy-intellectual-disability-toward-understanding-the-mechanism-underlying-phenotypic-variation
#11
Jing-Yang Wang, Peng Zhou, Jie Wang, Bin Tang, Tao Su, Xiao-Rong Liu, Bing-Mei Li, Heng Meng, Yi-Wu Shi, Yong-Hong Yi, Na He, Wei-Ping Liao
ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABAA receptor localization. ARHGEF9 mutations have been identified in patients with heterogeneous phenotypes, including epilepsy of variable severity and intellectual disability. However, the mechanism underlying phenotype variation is unknown. Using next-generation sequencing, we identified a novel mutation, c.868C > T/p.R290C, which co-segregated with epileptic encephalopathy, and validated its association with epileptic encephalopathy...
November 13, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29127859/the-risk-of-subsequent-epilepsy-in-children-with-febrile-seizure-after-5-years-of-age
#12
Pinar Gencpinar, Hamdi Yavuz, Öznur Bozkurt, Şenay Haspolat, Özgür Duman
PURPOSE: Despite their age-dependent definition, febrile seizures (FS) may be observed in people of almost any age. The risk of developing unprovoked seizures after an FS is well defined. However, there are limited data about FS starting or persisting after 5 years of age. In the present study, we evaluated patients who developed FS after 5 years of age. METHOD: Between 2010 and 2014, we prospectively enrolled all patients with FS. We collected demographic and clinical features, radiologic images, electroencephalograms (EEGs), and results of psychomotor development tests and treatment data of the patients...
November 6, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29127204/mutations-in-the-x-linked-atp6ap2-cause-a-glycosylation-disorder-with-autophagic-defects
#13
Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, Julien H Park, Peter Freisinger, Erika Souche, Maria Clara Guida, Esther M Maier, Yoshinao Wada, Stefanie Jäger, Nevan J Krogan, Oliver Kretz, Susana Nobre, Paula Garcia, Dulce Quelhas, Thomas D Bird, Wendy H Raskind, Michael Schwake, Sandrine Duvet, Francois Foulquier, Gert Matthijs, Thorsten Marquardt, Matias Simons
The biogenesis of the multi-subunit vacuolar-type H(+)-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that ATP6AP2 deficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects...
November 10, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29126328/repeated-administration-effects-on-psychomotor-vigilance-test-pvt-performance
#14
Mathias Basner, Emanuel Hermosillo, Jad Nasrini, Sarah McGuire, Salil Saxena, Tyler M Moore, Ruben C Gur, David F Dinges
Study Objectives: The Psychomotor Vigilance Test (PVT) is reported to be free of practice effects that can otherwise confound the effects of sleep loss and circadian misalignment on performance. This differentiates the PVT from more complex cognitive tests. To our knowledge, no study has systematically investigated practice effects on the PVT across multiple outcome domains, depending on administration interval, and in ecologically more valid settings. Methods: We administered a validated 3-minute PVT (PVT-B) 16 times in 45 subjects (23 male, mean±SD age 32...
November 8, 2017: Sleep
https://www.readbyqxmd.com/read/29118675/selecting-optimal-second-generation-antihistamines-for-allergic-rhinitis-and-urticaria-in-asia
#15
Marysia Tiongco Recto, Ma Teresita Gabriel, Kanokvalai Kulthanan, Pongsakorn Tantilipikorn, Derrick Chen-Wee Aw, Tak Hong Lee, Ch'ng Chin Chwen, Somasundran Mutusamy, Nguyen Trong Hao, Vo Thanh Quang, Giorgio Walter Canonica
Background: Allergic diseases are on the rise in many parts of the world, including the Asia-Pacific (APAC) region. Second-generation antihistamines are the first-line treatment option in the management of allergic rhinitis and urticaria. International guidelines describe the management of these conditions; however, clinicians perceive the additional need to tailor treatment according to patient profiles. This study serves as a consensus of experts from several countries in APAC (Hong Kong, Malaysia, the Philippines, Singapore, Thailand, Vietnam), which aims to describe the unmet needs, practical considerations, challenges, and key decision factors when determining optimal second-generation antihistamines for patients with allergic rhinitis and/or urticaria...
2017: Clinical and Molecular Allergy: CMA
https://www.readbyqxmd.com/read/29118588/professionalism-among-paramedic-students-achieving-the-measure-or-missing-the-mark
#16
REVIEW
L Michael Bowen, Brett Williams, Luke Stanke
Background: Professionalism is a pillar of paramedicine. Internationally paramedic curricula emphasize valid assessment of three domains: cognitive, psychomotor, and affective domains (professionalism). Little is reported on competency measures for professionalism specific to paramedicine. Literature suggests that paramedic students, paramedic practitioners, medical directors, and patients believe that professional attributes should have an increased focus. Objective: The objective of this scoping review is to outline valid and reliable assessments that evaluate professional behaviors...
2017: Advances in Medical Education and Practice
https://www.readbyqxmd.com/read/29117651/comparison-of-psychomotor-development-screening-test-and-clinical-assessment-of-psychomotor-development
#17
Goranka Radmilović, Valentina Matijević, Iris Zavoreo
Numerous adverse factors are acting in the prenatal, perinatal and postnatal period of life and may be the cause of later mild or severe deviations from normal psychomotor development. Therefore, it is crucial to identify infants with neurological risk factors and infants that already have a delay from orderly development, in order to immediately initiate the rehabilitation process. The aim of this study was to determine whether there is difference in the assessment of psychomotor development in neurological risk children based on the psychomotor development test (Croatian, Razvoj psihomotorike, RPM test) and clinical evaluation of neuromotor development...
December 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29117409/development-of-a-perfusion-based-cadaveric-simulation-model-integrated-into-neurosurgical-training-feasibility-based-on-reconstitution-of-vascular-and-cerebrospinal-fluid-systems
#18
Gabriel Zada, Joshua Bakhsheshian, Martin Pham, Mike Minneti, Eisha Christian, Jesse Winer, Aaron Robison, Bozena Wrobel, Jonathan Russin, William J Mack, Steven Giannotta
BACKGROUND: Novel methodologies providing realistic simulation of the neurosurgical operating room environment are currently needed, particularly for highly subspecialized operations with steep learning curves, high-risk profiles, and demands for advanced psychomotor skills. OBJECTIVE: To describe the development of a curriculum for using perfusion-based cadaveric simulation models in a "Mock Operating Room" for neurosurgical procedures. METHODS: At the USC Keck School of Medicine Fresh Tissue Dissection Laboratory between 2012 and 2016, 43 cadaveric specimens underwent cannulation of the femoral or carotid artery and artificial perfusion of the arterial system, and/or cannulation of the intradural cervical spine for intrathecal reconstitution of the cerebrospinal fluid (CSF) system...
May 13, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29116367/double-blind-comparison-of-the-two-hallucinogens-psilocybin-and-dextromethorphan-similarities-and-differences-in-subjective-experiences
#19
Theresa M Carbonaro, Matthew W Johnson, Ethan Hurwitz, Roland R Griffiths
RATIONALE: Although psilocybin and dextromethorphan (DXM) are hallucinogens, they have different receptor mechanisms of action and have not been directly compared. OBJECTIVE: This study compared subjective, behavioral, and physiological effects of psilocybin and dextromethorphan under conditions that minimized expectancy effects. METHODS: Single, acute oral doses of psilocybin (10, 20, 30 mg/70 kg), DXM (400 mg/70 kg), and placebo were administered under double-blind conditions to 20 healthy participants with histories of hallucinogen use...
November 7, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/29114732/amyloid-%C3%AE-deposition-and-suspected-non-alzheimer-pathophysiology-and-cognitive-decline-patterns-for-12-years-in-oldest-old-participants-without-dementia
#20
Yujing Zhao, Dana L Tudorascu, Oscar L Lopez, Ann D Cohen, Chester A Mathis, Howard J Aizenstein, Julie C Price, Lewis H Kuller, M Ilyas Kamboh, Steven T DeKosky, William E Klunk, Beth E Snitz
Importance: The prevalence of pathologic conditions of the brain associated with Alzheimer disease increases strongly with age. Little is known about the distribution and clinical significance of preclinical biomarker staging in the oldest old, when most individuals without dementia are likely to have positive biomarkers. Objective: To compare the patterns of long-term cognitive decline in multiple domains by preclinical biomarker status in the oldest old without dementia...
November 6, 2017: JAMA Neurology
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