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https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#1
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28798477/er-k-linked-gpcr-g-protein-fusions-systematically-modulate-second-messenger-response-in-cells
#2
Rabia U Malik, Matthew Dysthe, Michael Ritt, Roger K Sunahara, Sivaraj Sivaramakrishnan
FRET and BRET approaches are well established for detecting ligand induced GPCR-G protein interactions in cells. Currently, FRET/BRET assays rely on co-expression of GPCR and G protein, and hence depend on the stoichiometry and expression levels of the donor and acceptor probes. On the other hand, GPCR-G protein fusions have been used extensively to understand the selectivity of GPCR signaling pathways. However, the signaling properties of fusion proteins are not consistent across GPCRs. In this study, we describe and characterize novel sensors based on the Systematic Protein Affinity Strength Modulation (SPASM) technique...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28673221/intravascular-catheters-an-ultrasound-imaging-based-observational-study-of-position-and-function
#3
P D Hebbard, P Flinn
Peripheral intravenous and intra-arterial catheters often block with movement of the limb in which they are inserted. Although the cause of this blockage is commonly attributed to a valve or other structure within the vein, evidence for this is lacking. We used ultrasound to assess the cause of blockage on movement, and degree of tip movement, of 62 venous and 21 radial arterial catheters. In both venous and arterial catheters, blockage was predominantly caused by impingement of the catheter on the vessel wall, with catheter kinking and spasm of the vessel also seen...
July 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/28660741/split-brain-phenomena-in-anterior-communicating-artery-aneurysm-rupture-a-case-report
#4
Natalya Korsakova, Elizabeth Liebson, Lena Moskovich
In 1976, a patient with an anterior communicating artery aneurysm (ACoAA) rupture (diagnosed on angiography) and sub-arachnoid hemorrhage (SAH) underwent serial neuropsychological testing revealing a classical anterior cerebral artery (ACA) spasm picture with severe anterograde amnesia of Korsakoff's type and dysexecutive syndrome. In addition, the patient demonstrated impaired hemispheric interaction with alien hand syndrome, dyscopia-dysgraphia, complete left ear neglect, and other, more complex, split-brain phenomena...
June 2017: PsyCh Journal
https://www.readbyqxmd.com/read/28586458/disease-stabilization-of-dyt1-positive-primary-generalized-dystonia-with-deep-brain-stimulation-of-the-globus-pallidus-interna-a-15-yr-follow-up
#5
Derrick A Dupre, Raj Nangunoori, Sravanthi Koduri, Cindy Angle, Diane Cantella, Donald Whiting
BACKGROUND AND IMPORTANCE: Primary generalized dystonia (PGD) is a genetic form of dystonia that frequently displays pharmacological resistance and progresses quickly after onset. Deep brain stimulation (DBS) has been used successfully to treat refractory dystonia, specifically globus pallidus interna (GPi) DBS for DYT1-positive PGD patients. Long-term follow-up of the safety and efficacy falls short of the longevity seen in other diseases treated with DBS. CASE PRESENTATION: A male patient presented for neurosurgical evaluation with scapular winging, hand contractures, and violent truncal spasms, which forced him to be bedridden...
June 6, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28584677/microvascular-decompression-for-hypoglossal-nerve-palsy-secondary-to-vertebral-artery-compression-a-case-report-and-review-of-the-literature
#6
Yasuhiro Kuroi, Shigeru Tani, Hidenori Ohbuchi, Hidetoshi Kasuya
BACKGROUND: Neurovascular-compression syndrome (NCS) is described as a prominent pathological contact between cranial nerves and vessels. Trigeminal neuralgia, hemifacial spasm, and glossopharyngeal neuralgia are typical clinical entities associated with NCS. On the other hand, the hyoglossal nerve is rarely affected by NCS. CASE DESCRIPTION: We present a case of hypoglossal nerve palsy (HNP) secondary to vertebral artery (VA) compression. A 47-year-old man presented to our hospital with a 1-month history of dysarthria and dysphagia...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28523890/handy-hints-about-raynaud-s-phenomenon-in-children-a-critical-review
#7
REVIEW
Donato Rigante, Michele Fastiggi, Francesco Ricci, Francesca D'Errico, Benedetta Bracci, Cristina Guerriero
Raynaud's phenomenon (RP) is a vasospastic disorder characterized by recurrent self-limited episodes of skin pallor, cyanosis, and hyperemia caused by paroxysmal spasms in the small arteries of the fingers and toes and can occur in any age group. Hands, feet, nose, ears, and nipples can be affected. The diagnosis is made clinically, assessing varying degrees of ischemia in the involved areas of skin, but this transient ischemia may also herald the onset of connective tissue disease. Investigation is recommended when RP starts in childhood to exclude an underlying autoimmune condition and close follow-up for its development...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28498061/microvascular-decompression-for-hemifacial-spasm-can-intraoperative-lateral-spread-response-monitoring-improve-surgical-efficacy
#8
Yongxu Wei, Wenlei Yang, Weiguo Zhao, Chunhua Pu, Ning Li, Yu Cai, Hanbing Shang
OBJECTIVE The purpose of this study was to evaluate whether intraoperative monitoring of lateral spread response (LSR) improves the efficacy of microvascular decompression (MVD) for hemifacial spasm (HFS). METHODS In this prospective study, patients undergoing MVD for HFS were assigned to one of 2 groups, Group A (MVD with intraoperative LSR monitoring) or Group B (MVD without LSR monitoring). Clinical outcome at 12 months after surgery was assessed through telephone survey. Data analysis was performed to investigate the effect of intraoperative LSR monitoring on efficacy of MVD...
May 12, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28397999/scalp-eeg-ictal-gamma-and-beta-activity-during-infantile-spasms-evidence-of-focality
#9
Hiroki Nariai, Jules Beal, Aristea S Galanopoulou, Wenzhu B Mowrey, Stephan Bickel, Yoshimi Sogawa, Rana Jehle, Shlomo Shinnar, Solomon L Moshé
OBJECTIVE: We investigated temporal and spatial characteristics of ictal gamma and beta activity on scalp EEG during spasms in patients with West syndrome (WS) to evaluate potential focal cortical onset. METHODS: A total of 1,033 spasms from 34 patients with WS of various etiologies were analyzed on video-electroencephalography (EEG) using time-frequency analysis. Ictal gamma (35-90 Hz) and beta (15-30 Hz) activities were correlated with visual symmetry of spasms, objective EMG (electromyography) analysis, and etiology of WS...
May 2017: Epilepsia
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#10
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28214088/a-case-of-seropositive-autoimmune-autonomic-ganglionopathy-with-diffuse-esophageal-spasm
#11
Nobutoshi Morimoto, Sakuma Takahashi, Tomoki Inaba, Motonori Takamiya, Yasuhiko Kageyama, Mizuki Morimoto, Yoshiaki Takahashi, Hirotake Nishimura, Shunya Nakane, Koji Abe
Autoimmune autonomic ganglionopathy (AAG) is an immune-mediated disorder that leads to various autonomic failures associated with anti-ganglionic acetylcholine receptor antibodies (anti-gAChR-Abs). Diffuse esophageal spasm (DES) is an uncommon esophageal motility disorder. We herein report the case of a 68-year-old woman with DES as a partial symptom of AAG. She presented with chronic esophageal transit failure, constipation, and numbness of the hands and feet, Adie's pupil, thermal hypoalgesia, and decreased deep tendon reflexes...
May 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28164065/localized-tetanus-in-an-adult-patient-case-report
#12
Mohamed Amirali Gulamhussein, Yueyang Li, Abhijit Guha
INTRODUCTION: Tetanus is a severe and potentially fatal infection caused by the bacterium Clostridium tetani. Of all the cases described in literature, generalized tetanus is by far the most common presentation, but it may also present as neonatal tetanus, cephalic tetanus, and localized tetanus, the latter two being much rarer. In this case report, we present the rare form of this disease, i.e., localized tetanus in an adult male with a history of minimal trauma as well as a late, unusual mode of presentation...
September 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28132692/a-recurrent-de-novo-variant-in-nacc1-causes-a-syndrome-characterized-by-infantile-epilepsy-cataracts-and-profound-developmental-delay
#13
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R Bearden, Asbjorg Stray-Pedersen, Oyvind L Busk, Nicholas Stong, Eriskay Liston, Ronald D Cohn, Fernando Scaglia, Jill A Rosenfeld, Jennifer Tarpinian, Cara M Skraban, Matthew A Deardorff, Jeremy N Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A Mikati, Peter G Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F Nelson, Hane Lee, Naghmeh Dorrani, David B Goldstein, Rui Xiao, Yaping Yang, Jennifer E Posey, Julian A Martinez-Agosto, James R Lupski, Michael F Wangler, Vandana Shashi
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28116965/rare-gripping-object-in-electrocution-cadaveric-spasm-at-its-best
#14
Mohit Chauhan, C Behera, Jatin Bodwal, P C Dikshit
Cadaveric spasm causes instantaneous rigor without preceding post-mortem flaccidity. The precise pathophysiological basis of this phenomenon is still unknown. We report a case of accidental electrocution where the deceased was found dead with a metallic water supply pipe of a motor booster pump firmly gripped in his hand. In this report, we review the literature and consider the mechanisms that may cause this phenomenon.
January 1, 2017: Medico-legal Journal
https://www.readbyqxmd.com/read/27911020/changes-in-resting-state-connectivity-in-musicians-with-embouchure-dystonia
#15
Bernhard Haslinger, Jonas Noé, Eckart Altenmüller, Valentin Riedl, Claus Zimmer, Tobias Mantel, Christian Dresel
OBJECTIVE: Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. METHODS: We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27910134/effectiveness-of-handmade-jacky-like-catheter-as-a-single-multipurpose-catheter-in-transradial-coronary-angiography-a-randomized-comparison-with-conventional-two-catheter-strategy
#16
RANDOMIZED CONTROLLED TRIAL
Ismail Erden, Ebru Golcuk, Serdar Bozyel, Emine Cakcak Erden, Yakup Balaban, Kivanc Yalın, Burak Turan
OBJECTIVE: To investigate safety and efficacy of specialized hand-modified "Jacky-Like" catheter (JLC) as a single dual-purpose catheter in transradial coronary angiography. METHODS: Patients over 18 years undergoing diagnostic CAG through right radial artery (RRA) were prospectively enrolled. Procedures were performed with a single JLC modified from a left Judkins (JL) 3.5 catheter or by using 2-catheter approach (2C). Procedures with coronary artery bypass grafts or ventricular angiographies were excluded from the study...
February 2017: Journal of Interventional Cardiology
https://www.readbyqxmd.com/read/27759565/intramuscular-neurotrophin-3-normalizes-low-threshold-spinal-reflexes-reduces-spasms-and-improves-mobility-after-bilateral-corticospinal-tract-injury-in-rats
#17
Claudia Kathe, Thomas Haynes Hutson, Stephen Brendan McMahon, Lawrence David Falcon Moon
Brain and spinal injury reduce mobility and often impair sensorimotor processing in the spinal cord leading to spasticity. Here, we establish that complete transection of corticospinal pathways in the pyramids impairs locomotion and leads to increased spasms and excessive mono- and polysynaptic low threshold spinal reflexes in rats. Treatment of affected forelimb muscles with an adeno-associated viral vector (AAV) encoding human Neurotrophin-3 at a clinically-feasible time-point after injury reduced spasticity...
October 19, 2016: ELife
https://www.readbyqxmd.com/read/27651808/comparison-of-antispasmodic-effect-of-hydroalcoholic-extract-of-dracocephalum-kotschyi-boiss-in-rat-uterus-and-ileum
#18
Hassan Sadraei, Gholamreza Asghari, Mahla Alinejad
Dracocephalum kotschyi Boiss. is a traditional medicine with antispasmodic activities. The objective of this research was to study antispasmodic activities of hydroalcoholic extract of D. kotschyi on rat isolated uterus contractions for comparison with isolated ileum. Hydroalcoholic extract was obtained from aerial part of D. kotschyi using percolation method. A portion of rat ileum or uterus was suspended in Tyrode's solution at 37°C and gassed with O2. Effect of D. kotschyi extract was assessed on ileum or uterus contractions induced by KCl (80 mM), acetylcholine (ACh, 500 nM), electrical field stimulation (EFS) or oxytocin (0...
July 2016: Research in Pharmaceutical Sciences
https://www.readbyqxmd.com/read/27515204/accommodative-spasm-might-influence-surgical-planning-and-outcomes-in-acute-acquired-distance-esotropia-in-myopia
#19
Michela Fresina, Giuseppe Giannaccare, Piera Versura, Emilio C Campos
INTRODUCTION: Acute acquired distance esotropia (AADE) is a poorly understood moderate-angle strabismus, affecting young adult myopes and determining bothersome diplopia. Symptoms can be intermittent in the early stages, becoming constant in long-lasting disease. Symptomatic therapy includes prism correction, while surgery is the only curative treatment. However, the latter is affected by high rate of symptoms recurrence with the frequent need for reoperation. HYPOTHESIS: We hypothesize that AADE could be caused by the increase of the accommodative demand, often secondary to a myopic overcorrection...
September 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27134989/limbus-vertebra-presenting-with-inflammatory-low-back-pain-a-case-report
#20
Serpil Tuna, Tayfun Özdemir, Hande Ece Öz
Limbus vertebra is a condition characterized by marginal interosseous herniation of the nucleus pulposus, and causes non specific symptoms like low back pain, back pain, muscle spasms and radiculopathy. It is frequently confused with vertebral fracture, infection, schmorl nodule or tumour because it has not a spesific symptom. It usually causes mechanical low back pain rather than inflammatory low back pain. We reported a patient presented with inflammatory low back pain and diagnosed with anterior limbus vertebra because it is rare and the patient has atypical clinical presentation...
March 2016: Journal of Clinical and Diagnostic Research: JCDR
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