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https://www.readbyqxmd.com/read/28515516/changes-in-cardiac-index-during-labour-analgesia-a-double-blind-randomised-controlled-trial-of-epidural-versus-combined-spinal-epidural-analgesia-a-preliminary-study
#1
Stephanie Yacoubian, Corrina M Oxford, Bhavani Shankar Kodali
BACKGROUND AND AIMS: Combined spinal-epidural (CSE) analgesia for labour and delivery is occasionally associated with foetal bradycardia. Decreases in cardiac index (CI) and/or uterine hypertonia are implicated as possible aetiological factors. No study has evaluated CI changes following combined spinal analgesia for labour and delivery. This prospective, double-blind, randomised controlled trial evaluates haemodynamic trends during CSE and epidural analgesia for labour. METHODS: Twenty-six parturients at term requesting labour analgesia were randomised to receive either epidural (E) or CSE analgesia...
April 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/28514307/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient-mainly-presented-with-retinal-detachment-lens-and-vitreous-opacities-microcephaly-and-developmental-delay-case-report-and-literature-review
#2
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang
RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28511417/effectiveness-of-a-four-week-diet-regimen-exercise-and-psychological-intervention-for-weight-loss
#3
Tobias Weinreich, Hans-Peter Filz, Ursula Gresser, Barbara M Richartz
INTRODUCTION: Obesity is accompanied by restriction in the quality of life and an increased risk of morbidity and mortality. Cardiovascular, orthopedic, and metabolic disorders are among the possible consequences. In the management of obesity, a combination therapy that includes dietary, exercise, and behaviour modules has proven its worth. AIM: To evaluate the effect of weight-associated parameters, circulation associated parameters, glucose metabolism, body composition and life quality changes within a four-week inpatient rehabilitation program...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28503163/different-effects-of-cold-stimulation-on-reflex-and-non-reflex-components-of-poststroke-spastic-hypertonia
#4
Sheng Li, Henry Shin, Ping Zhou, Xiaoyan Li
OBJECTIVE: To use an established biomechanical approach to quantify reflex and non-reflex responses from spastic-paretic elbow flexors in response to controlled cold and heat stimulation. METHODS: Thirteen spastic-hemiplegic stroke subjects were tested in the experiment. The spastic elbow joint was stretched into extension for 50° at two speeds (5°/s and 100°/s) in a customized apparatus. Thermal stimulation (HEAT at heat pain threshold, COLD at 0°C, or BASELINE at room temperature) was applied to the thenar eminence of the contralateral hand immediately prior to stretching for at least 30 s...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28495146/neonatal-vein-of-labb%C3%A3-infarction-size-is-associated-with-long-term-language-outcomes
#5
Kristen L Benninger, Lynne Ruess, Laurel A Slaughter, Nathalie L Maitre, Jerome A Rusin
BACKGROUND: The vein of Labbé is a superficial cortical vein, which drains the lateral surface of the temporal lobe. Thrombosis of the vein of Labbé can occur in the neonatal period. The developmental outcomes of infants who had vein of Labbé thrombosis are unknown as few studies of outcomes exist. METHODS: We completed a retrospective review of infants born ≥34 weeks of gestation, diagnosed with vein of Labbé thrombosis, and/or infarction on neuroimaging during the first 30 days of life...
April 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28433979/lethal-high-acute-disseminated-encephalomyelitis-adem-triggered-by-toxic-effect-of-synthetic-cannabinoid-black-mamba
#6
Kiran Samra, Ian S Boon, Gregory Packer, Saiju Jacob
A previously well 25-year-old man presented with agitation, double incontinence and left-sided incoordination. His symptoms started after smoking a synthetic cannabinoid (black mamba) 5 days earlier. Over 48 hours, he developed aphasia, generalised hypertonia, hyper-reflexia and dense left hemiparesis. This progressed to profuse diaphoresis, fever, tachycardia, hypertension and a possible seizure necessitating admission to the intensive care unit. CT head and cerebrospinal fluid analysis were unremarkable...
April 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#7
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28378817/severe-neurodegeneration-progressive-cerebral-volume-loss-and-diffuse-hypomyelination-associated-with-a-homozygous-frameshift-mutation-in-cstb
#8
Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon
Mutations of the cystatin B gene (CSTB; OMIM 601145) are known to cause Unverricht-Lundborg disease or progressive myoclonic epilepsy-1A (EPM1A, MIM #254800). Most patients are homozygous for an expanded (>30) dodecamer repeat in the promoter region of CSTB, or are compound heterozygotes for the dodecamer repeat and a point mutation. We report two adolescent sisters born to consanguineous parents of Sri Lankan descent who presented with profound global developmental delay, microcephaly, cortical blindness and axial hypotonia with appendicular hypertonia...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28377349/-factors-affecting-recovery-of-consciousness-in-patients-with-disorders-of-consciousness-following-brain-trauma-a-logistic-regression-analysis
#9
Qing Lin, Qiu-You Xie, Yan-Bin He, Yan Chen, Xiao-Xiao Ni, Ye-Qun Guo, Yan Shen, Rong-Hao Yu
OBJECTIVE: To explore the factors that affect the recovery of consciousness in patients with disorders of consciousness following brain trauma. METHODS: We analyzed the data of 114 patients with disorders of consciousness following brain trauma admitted for rehabilitation. Bilateral logistic regression analysis was used to explore the factors that affected the recovery of the patients' consciousness. A logistic regression model was established and the ROC curve was drawn to obtain the optimal threshold of the prognostic model...
March 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28347765/spinal-cord-injury-in-hypertonic-newborns-after-antenatal-hypoxia-ischemia-in-a-rabbit-model-of-cerebral-palsy
#10
Alexander Drobyshevsky, Katharina A Quinlan
While antenatal hypoxia-ischemia (H-I) is a well-established cause of brain injury, the effects of H-I on the spinal cord remain undefined. This study examined whether hypertonia in rabbits was accompanied by changes in spinal architecture. Rabbit dams underwent global fetal H-I at embryonic day 25 for 40min. High resolution diffusion tensor imaging was performed on fixed neonatal CNS. Fractional anisotropy (FA) and regional volumetric measurements were compared between kits with and without hypertonia after H-I and sham controls using Tract Based Spatial Statistics...
March 24, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28347207/evaluation-of-the-effectiveness-of-transcranial-direct-current-stimulation-tdcs-and-psychosensory-stimulation-through-docs-scale-in-a-minimally-conscious-subject
#11
Danilo Dimitri, Daniela De Filippis, Valentina Galetto, Marina Zettin
The aim of our study was to assess the effectiveness of transcranial direct current stimulation (tDCS) on alertness improvement in a patient in a minimally conscious state (MCS) by means of disorders of consciousness scale combined with psycho-sensory stimulation. The effects of tDCS on muscle hypertonia through the Ashworth scale were also examined. tDCS was performed through a two-channel intra-cephalic stimulator. After stimulation, the patient followed a psychosensory stimulation training. Results pointed out an increase in DOCunit score, as well as an increase in alertness maintenance and an improvement in muscle hypertonia, although a MCS state persisted...
March 27, 2017: Neurocase
https://www.readbyqxmd.com/read/28319872/intrathecal-baclofen-bolus-reduces-exaggerated-extensor-coactivation-during-pre-swing-and-early-swing-of-gait-after-acquired-brain-injury
#12
John W Chow, Stuart A Yablon, Dobrivoje S Stokic
OBJECTIVE: To characterize the concurrent activation of rectus femoris (RF) and medial gastrocnemius (MG) muscles (extensor coactivation) during gait in subjects with pronounced resting hypertonia after acquired brain injury (ABI) and examine changes after intrathecal baclofen (ITB) bolus injection. METHODS: Magnitude and duration of extensor coactivation during different phases of gait were assessed by recording gait kinematics and activity in bilateral RF and MG muscles in 18 controls and 18 ABI subjects before and at 2, 4, and 6h after a 50-μg ITB injection...
May 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28268656/pendulum-test-measure-correlates-with-gait-parameters-in-children-with-cerebral-palsy
#13
M Lotfian, M M Mirbagheri, M R Kharazi, F Dadashi, R Nourian, A Irani, A Mirbagheri
Individuals with cerebral palsy (CP) usually suffer from different impairments including gait impairment and spasticity. Spastic hypertonia is a defining feature of spasticity and manifests as a mechanical abnormality. The objective of this study was to determine the relationship between spastic hypertonia and gait impairments in spastic children with CP, addressing an important controversial issue. Spastic hypertonia was quantified using the pendulum test. The gait impairments were evaluated using the motion capture system in a gait laboratory...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28243183/multidisciplinary-management-of-sexual-dysfunction-perineal-pain-and-elimination-dysfunction-in-a-woman-with-multiple-sclerosis
#14
Michela Miletta, Fabrizio Bogliatto, Leonardo Bacchio
BACKGROUND: Multiple sclerosis (MS) is a chronic disease that commonly affects young women and is associated with sexual dysfunction (SD) and lower anourogenital dysfunction, which affect quality of life. We evaluated the importance of an integrated multidisciplinary approach in the Lower Female Ano-Uro-Genital Network (LFAUGN) to manage a variety of complex symptoms. METHODS: A 40-year-old woman with MS and primary concerns about perineal pain and SD was treated by a trained midwife from the LFAUGN and a physical therapist after a multidisciplinary diagnostic process that included gynecologic evaluation for perineal pain and SD, physiatric assessment, urologic assessment for bladder retention (BR), and surgical examination for obstructed defecation syndrome (ODS)...
January 2017: International Journal of MS Care
https://www.readbyqxmd.com/read/28226839/pendulum-test-measure-correlates-with-gait-parameters-in-children-with-cerebral-palsy
#15
M Lotfian, M M Mirbagheri, M R Kharazi, F Dadashi, R Nourian, A Irani, A Mirbagheri, M Lotfian, M M Mirbagheri, M R Kharazi, F Dadashi, R Nourian, A Irani, A Mirbagheri, M Lotfian, R Nourian, M M Mirbagheri, A Mirbagheri, A Irani, F Dadashi, M R Kharazi
Individuals with cerebral palsy (CP) usually suffer from different impairments including gait impairment and spasticity. Spastic hypertonia is a defining feature of spasticity and manifests as a mechanical abnormality. The objective of this study was to determine the relationship between spastic hypertonia and gait impairments in spastic children with CP, addressing an important controversial issue. Spastic hypertonia was quantified using the pendulum test. The gait impairments were evaluated using the motion capture system in a gait laboratory...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28180185/precision-therapy-for-a-new-disorder-of-ampa-receptor-recycling-due-to-mutations-in-atad1
#16
Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, Matthew A Deardorff, Alisha B Wilkens, Laura K Conlin, Avni B Santani, Addie Nesbitt, Jane Juulsola, Erica Ma, Ted M Dawson, Valina L Dawson, Eric D Marsh
OBJECTIVE: ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice and humans. METHODS: Using exome sequencing, we identified a novel ATAD1 mutation (p.E276X) as the etiology of a devastating neurologic disorder characterized by hypertonia, seizures, and death in a consanguineous family...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28115439/brief-resolved-unexplained-event-new-diagnosis-in-infants
#17
Karen Arane, Ilene Claudius, Ran D Goldman
QUESTION: For many years, the term apparent life-threatening event (ALTE) was associated with sudden infant death syndrome, and parents who described an acute event in their infants were sent to the hospital for admission. I understand that for infants new terminology is recommended. What is the current approach to a near-death experience of an infant? ANSWER: A recent clinical practice guideline revised the name and definition of an ALTE to a brief resolved unexplained event (BRUE)...
January 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28063749/symmetrical-thalamic-calcification-a-trio-whole-exome-sequencing-negative-series
#18
Kathleen Mary Gorman, John James Aird, Judith Conroy, Deirdre Devaney, Michael Farrell, Mary Dolores King
Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified. Two affected children from singleton pregnancies were reported and therefore, a genetic cause proposed. No previous reports have performed genetic testing to confirm or reject this hypothesis...
May 2017: Brain & Development
https://www.readbyqxmd.com/read/28018155/neonatal-toxicity-from-escitalopram-use-in-utero-a-case-report
#19
Jessica Degiacomo, Sherry Luedtke
Selective serotonin reuptake inhibitor (SSRI) exposure during pregnancy can result in symptoms of serotonin syndrome or serotonin withdrawal. In contrast to other SSRIs, reports of serotonin behavioral syndrome following in utero exposure to escitalopram and citalopram are limited. We describe a case of suspected toxicity following in utero exposure to 20 mg escitalopram throughout pregnancy. The infant was transferred to our neonatal intensive unit at 9 hours of life for further evaluation of lethargy, weak cry, bradycardia, and non-reactive pupils...
November 2016: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/28005829/reproducible-measurements-of-muscle-characteristics-using-the-myotonpro-device-comparison-between-individuals-with-and-without-paratonia
#20
Bieke Van Deun, Johannes S M Hobbelen, Barbara Cagnie, Birgit Van Eetvelde, Nele Van Den Noortgate, Dirk Cambier
BACKGROUND AND PURPOSE: The MyotonPRO is a portable device that measures muscle tone and biomechanical muscle properties objectively. MyotonPRO has already proven to be effective in measuring muscle properties in healthy and diseased populations. However, to the best of our knowledge, it has never been tested in individuals suffering from paratonia, a form of hypertonia frequently accompanying dementia. The aims of the present study were to (1) compare muscle tone, elasticity, and stiffness between 3 different subpopulations of young and old healthy adults and individuals with paratonia, and (2) investigate the intra- and interrater reproducibility of MyotonPRO measurements of the biceps brachii (BB) muscle in each subpopulation...
December 21, 2016: Journal of Geriatric Physical Therapy
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