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https://www.readbyqxmd.com/read/29190809/molecular-diagnosis-of-patients-with-epilepsy-and-developmental-delay-using-a-customized-panel-of-epilepsy-genes
#1
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel)...
2017: PloS One
https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#2
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29141310/-analysis-of-gene-mutation-of-early-onset-epileptic-spasm-with-unknown-reason
#3
X Yang, G Pan, W H Li, L M Zhang, B B Wu, H J Wang, P Zhang, S Z Zhou
Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29140376/evaluating-maxillary-sinus-septa-using-cone-beam-computed-tomography-is-there-a-difference-in-frequency-and-type-between-the-dentate-and-edentulous-posterior-maxilla
#4
Martina Schriber, Thomas von Arx, Pedram Sendi, Reinhilde Jacobs, Valerie Ga Suter, Michael M Bornstein
PURPOSE: To analyze and compare the frequency, type, and location of maxillary sinus septa in patients with a dentate and an edentulous posterior maxilla using cone beam computed tomography (CBCT) imaging. MATERIALS AND METHODS: The study consisted of 100 maxillary sinuses: 50 from patients with a dentate and 50 from patients with an edentulous posterior maxilla. The aim was to assess the frequency, morphology, and location of maxillary sinus septa in axial, sagittal, and coronal CBCT images...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29107069/the-species-origin-of-the-cellular-microenvironment-influences-markers-of-beta-cell-fate-and-function-in-endoc-%C3%AE-h1-cells
#5
N Jeffery, S Richardson, C Beall, L W Harries
Interaction between islet cell subtypes and the extracellular matrix influences beta-cell function in mammals. The tissue architecture of rodent islets is very different to that of human islets; cell-to-cell communication and interaction with the extracellular matrix may vary between species. In this work, we have compared the responses of the human EndoC-βH1 cell line to non-human and human-derived growth matrices in terms of growth morphology, gene expression and glucose-stimulated insulin secretion (GSIS)...
October 26, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/29103923/artemether-does-not-turn-%C3%AE-cells-into-%C3%AE-cells
#6
Talitha van der Meulen, Sharon Lee, Els Noordeloos, Cynthia J Donaldson, Michael W Adams, Glyn M Noguchi, Alex M Mawla, Mark O Huising
Pancreatic α cells retain considerable plasticity and can, under the right circumstances, transdifferentiate into functionally mature β cells. In search of a targetable mechanistic basis, a recent paper suggested that the widely used anti-malaria drug artemether suppresses the α cell transcription factor Arx to promote transdifferentiation into β cells. However, key initial experiments in this paper were carried out in islet cell lines, and most subsequent validation experiments implied transdifferentiation without direct demonstration of α to β cell conversion...
November 1, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/29062978/interneuronopathies-and-their-role-in-early-life-epilepsies-and-neurodevelopmental-disorders
#7
Anna-Maria Katsarou, Solomon L Moshé, Aristea S Galanopoulou
GABAergic interneurons control the neural circuitry and network activity in the brain. The advances in genetics have identified genes that control the development, maturation and integration of GABAergic interneurons and implicated them in the pathogenesis of epileptic encephalopathies or neurodevelopmental disorders. For example, mutations of the Aristaless-Related homeobox X-linked gene (ARX) may result in defective GABAergic interneuronal migration in infants with epileptic encephalopathies like West syndrome (WS), Ohtahara syndrome or X-linked lissencephaly with abnormal genitalia (XLAG)...
September 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29060096/assisting-people-with-nystagmus-through-image-stabilization-using-an-arx-model-to-overcome-processing-delays
#8
Stephan Polzer, Klaus Miesenberger
Pathological Nystagmus is characterized by an unintended and involuntary eye-movement, which tends to impact on visual acuity. Today only view therapies (for instance medication or surgeries) to treat nystagmus are at hand and the existing therapies only show partial improvement. Only general Assistive Technology (AT) solutions like glasses, screen magnifiers, speech output, display adaptation and concepts holders are at hand to support daily living. More specific ATs to reduce the impact of nystagmus are missing...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28985375/rapid-monoterpene-induction-promotes-the-susceptibility-of-a-novel-host-pine-to-mountain-pine-beetle-colonization-but-not-to-beetle-vectored-fungi
#9
Jonathan A Cale, Marlena Muskens, Ahmed Najar, Guncha Ishangulyyeva, Altaf Hussain, Sanat S Kanekar, Jennifer G Klutsch, Spencer Taft, Nadir Erbilgin, Jörg-Peter Schnitzler
Chemical induction can drive tree susceptibility to and host range expansions of attacking insects and fungi. Recently, mountain pine beetle (Dendroctonus ponderosae Hopkins; MPB) has expanded its host range from its historic host lodgepole pine (Pinus contorta var. latifolia Douglas ex Loudon) to jack pine (Pinus banksiana Lamb) in western Canada. Beetle success in jack pine forests likely depends upon the suitability of tree chemistry to MPB and its symbiotic phytopathogenic fungi. In particular, how rapid induced defenses of jack pine affect MPB colonization and the beetle's symbionts is unknown...
July 17, 2017: Tree Physiology
https://www.readbyqxmd.com/read/28970231/the-terminal-nerve-plays-a-prominent-role-in-gnrh-1-neuronal-migration-independent-from-proper-olfactory-and-vomeronasal-connections-to-the-olfactory-bulbs
#10
Ed Zandro M Taroc, Aparna Prasad, Jennifer M Lin, Paolo E Forni
Gonadotropin-releasing hormone-1 (GnRH-1) neurons (GnRH-1 ns) migrate from the developing olfactory pit into the hypothalamus during embryonic development. Migration of the GnRH-1 neurons is required for mammalian reproduction as these cells control release of gonadotropins from the anterior pituitary gland. Disturbances in GnRH-1 ns migration, GnRH-1 synthesis, secretion or signaling lead to varying degrees of hypogonadotropic hypogonadism (HH), which impairs pubertal onset and fertility. HH associated with congenital olfactory defects is clinically defined as Kallmann Syndrome (KS)...
October 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28965696/gene-expression-profiles-of-ovarian-low-grade-serous-carcinoma-resemble-those-of-fallopian-tube-epithelium
#11
Chunping Qiu, Nan Lu, Xiao Wang, Qing Zhang, Cunzhong Yuan, Shi Yan, Samina Dongol, Yingwei Li, Xiaomei Sun, Chenggong Sun, Zhiwei Zhang, Wenxin Zheng, Beihua Kong
OBJECTIVE: The cell of origin of ovarian low-grade serous carcinoma (LGSC) remains unclarified. Our recent morphologic and immunophenotypic study suggests that most LGSCs may be derived from the fallopian tube. The purpose of the current study was to gain further insight into the origin of LGSC at the molecular level. METHODS: RNA-seq analysis was performed on a total of 31 tissue samples including LGSC (n=6), serous borderline tumors (SBT, n=6), fallopian tube epithelia (FTE, n=5), ovarian surface epithelia (OSE, n=4), and human peritoneal mesothelia (HPM, n=4)...
September 28, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28953922/germline-and-somatic-mutations-in-cortical-malformations-molecular-defects-in-argentinean-patients-with-neuronal-migration-disorders
#12
Dolores González-Morón, Sebastián Vishnopolska, Damián Consalvo, Nancy Medina, Marcelo Marti, Marta Córdoba, Cecilia Vazquez-Dusefante, Santiago Claverie, Sergio Alejandro Rodríguez-Quiroga, Patricia Vega, Walter Silva, Silvia Kochen, Marcelo Andrés Kauffman
Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains unattainable in a high proportion of cases. Here, we present the results of 38 patients with lissencephaly, periventricular heterotopia and subcortical band heterotopia from Argentina. We performed Sanger and Next Generation Sequencing (NGS) of DCX, FLNA and ARX and searched for copy number variations by MLPA in PAFAH1B1, DCX, POMT1, and POMGNT1...
2017: PloS One
https://www.readbyqxmd.com/read/28931935/alpha-tc1-and-beta-tc-6-genomic-profiling-uncovers-both-shared-and-distinct-transcriptional-regulatory-features-with-their-primary-islet-counterparts
#13
Nathan Lawlor, Ahrim Youn, Romy Kursawe, Duygu Ucar, Michael L Stitzel
Alpha TC1 (αTC1) and Beta-TC-6 (βTC6) mouse islet cell lines are cellular models of islet (dys)function and type 2 diabetes (T2D). However, genomic characteristics of these cells, and their similarities to primary islet alpha and beta cells, are undefined. Here, we report the epigenomic (ATAC-seq) and transcriptomic (RNA-seq) landscapes of αTC1 and βTC6 cells. Each cell type exhibits hallmarks of its primary islet cell counterpart including cell-specific expression of beta (e.g., Pdx1) and alpha (e.g., Arx) cell transcription factors (TFs), and enrichment of binding motifs for these TFs in αTC1/βTC6 cis-regulatory elements...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28929231/patent-nasopalatine-ducts-an-update-of-the-literature-and-a-series-of-new-cases
#14
REVIEW
Th von Arx, M Schaffner, M M Bornstein
PURPOSE: The objective of this review is to present an update and summary of clinical findings of cases with a patent nasopalatine duct (NPD) reported in the literature from 1881 to 2016. METHODS: Previous articles and reviews about patent NPDs were studied and copies of all original publications were obtained for data verification. Furthermore, a literature search was conducted. In addition, the study sample was complemented with four cases recently seen in our institution...
September 19, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28924486/expression-of-transcription-factors-in-men1-associated-pancreatic-neuroendocrine-tumors
#15
Yasutaka Takeda, Yukihiro Fujita, Kentaro Sakai, Tomoe Abe, Tomonobu Nakamura, Tsuyoshi Yanagimachi, Hidemitsu Sakagami, Jun Honjo, Atsuko Abiko, Yuichi Makino, Masakazu Haneda
MEN1-associated pancreatic neuroendocrine tumors (pNETs) may potentially express distinct hormones, but the mechanism has not been elucidated. Transcription factors such as MafA and Pdx1 have been identified to lead to beta cell differentiation, while Arx and Brn4 to alpha cell differentiation in developing pancreas. We hypothesized those transcription factors are important to produce specific hormones in pNETs, similarly to developing pancreas, and examined the expression of transcription factors in a case of MEN1 who showed immunohistological coexistence of several hormone-producing pNETs including insulinoma...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28920140/frequency-location-and-association-with-dental-pathology-of-mucous-retention-cysts-in-the-maxillary-sinus-a-radiographic-study-using-cone-beam-computed-tomography-cbct
#16
Andy Wai Kan Yeung, Ray Tanaka, Pek-Lan Khong, Thomas von Arx, Michael M Bornstein
OBJECTIVES: The purpose of the present study was to evaluate the frequency, locations, and dimensions of mucous retention cysts of the maxillary sinus and analyze potential associated dental pathology. MATERIALS AND METHODS: A total of 156 cone beam computed tomography (CBCT) scans were included in the analysis, resulting in an evaluation of 310 maxillary sinuses. The presence of mucous retention cysts (MRC) manifesting as dome-shaped radiopacities in the sinus was diagnosed...
September 17, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28851506/swiss-epilepsy-center-zurich-switzerland
#17
Martin Bieri, Ian Mothersill, Priska von Arx, Jörg Wehr
No abstract text is available yet for this article.
November 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28817424/impact-of-simulator-based-training-in-focused-transesophageal-echocardiography-a-randomized-controlled-trial
#18
RANDOMIZED CONTROLLED TRIAL
Andreas Bloch, Robert von Arx, Reto Etter, David Berger, Heiko Kaiser, Armando Lenz, Tobias M Merz
BACKGROUND: The aim of the study was to determine if training in transesophageal echocardiography (TEE) using a TEE simulator improves the ability of novice operators to perform and interpret a focused critical care TEE. METHODS: In this prospective, randomized, controlled study with blinded outcome assessment, 44 intensive care unit trainees were randomly assigned to a control group receiving 4 hours of lecture-based training only, or an intervention group which was additionally trained for 4 hours using a TEE simulator...
October 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28715316/virtual-humans-for-implantable-device-safety-assessment-in-mri-mitigating-magnetic-resonance-imaging-hazards-for-implanted-medical-devices
#19
James E Brown, Rui Qiang, Paul J Stadnik, Larry J Stotts, Jeffrey A Von Arx
Magnetic resonance imaging (MRI) is the preferred modality for soft tissue imaging because of its nonionizing radiation and lack of contrast agent. Due to interactions between the MR system and active implantable medical devices (AIMDs), patients with implants such as pacemakers are generally denied access to MRI, which presents a detriment to that population. It has been estimated that 50-75% of patients with a cardiac device were denied access to MRI scanning and, moreover, that 17% of pacemaker patients need an MRI within 12 months of implantation [1]...
July 2017: IEEE Pulse
https://www.readbyqxmd.com/read/28694108/increased-blood-pressure-variability-upon-standing-up-improves-reproducibility-of-cerebral-autoregulation-indices
#20
Adam Mahdi, Dragana Nikolic, Anthony A Birch, Mette S Olufsen, Ronney B Panerai, David M Simpson, Stephen J Payne
Dynamic cerebral autoregulation, that is the transient response of cerebral blood flow to changes in arterial blood pressure, is currently assessed using a variety of different time series methods and data collection protocols. In the continuing absence of a gold standard for the study of cerebral autoregulation it is unclear to what extent does the assessment depend on the choice of a computational method and protocol. We use continuous measurements of blood pressure and cerebral blood flow velocity in the middle cerebral artery from the cohorts of 18 normotensive subjects performing sit-to-stand manoeuvre...
July 7, 2017: Medical Engineering & Physics
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