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https://www.readbyqxmd.com/read/29443755/argininemia-as-a-cause-of-severe-chronic-stunting-and-partial-growth-hormone-deficiency-pghd-a-case-report
#1
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood. PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29442178/the-use-of-cannabis-and-cannabinoids-in-treating-symptoms-of-multiple-sclerosis-a-systematic-review-of-reviews
#2
REVIEW
Suzanne Nielsen, Rada Germanos, Megan Weier, John Pollard, Louisa Degenhardt, Wayne Hall, Nicholas Buckley, Michael Farrell
PURPOSE OF REVIEW: Pharmaceutical cannabinoids such as nabiximols, nabilone and dronabinol, and plant-based cannabinoids have been investigated for their therapeutic potential in treating multiple sclerosis (MS) symptoms. This review of reviews aimed to synthesise findings from high quality systematic reviews that examined the safety and effectiveness of cannabinoids in multiple sclerosis. We examined the outcomes of disability and disability progression, pain, spasticity, bladder function, tremor/ataxia, quality of life and adverse effects...
February 13, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29438993/identification-of-progesterone-receptor-membrane-component-1-as-an-interaction-partner-and-possible-regulator-of-fatty-acid-2-hydroxylase
#3
Robert Hardt, Dominic Winter, Volkmar Gieselmann, Matthias Eckhardt
The fatty acid 2-hydroxylase (FA2H) is essential for synthesis of 2-hydroxylated fatty acids in myelinating and other cells and deficiency of this enzyme causes a complicated form of hereditary spastic paraplegia also known as fatty acid hydroxylase-associated neurodegeneration. Despite its important role in sphingolipid metabolism, regulation of FA2H and its interaction with other proteins involved in the same or other metabolic pathways is poorly understood. To identify potential interaction partners of the enzyme, quantitative mass-spectrometry using stable isotope labeling of cells was combined with formaldehyde cross-linking and proximity biotinylation, respectively...
February 9, 2018: Biochemical Journal
https://www.readbyqxmd.com/read/29438658/functional-capacity-in-adults-with-cerebral-palsy-lower-limb-muscle-strength-matters
#4
Jarred G Gillett, Glen A Lichtwark, Roslyn N Boyd, Lee A Barber
OBJECTIVE: To investigate the relationship between lower limb muscle strength, passive muscle properties and functional capacity outcomes in adults with cerebral palsy (CP). DESIGN: Cross-sectional study. SETTING: Tertiary institution biomechanics laboratory. PARTICIPANTS: Sample of 33 adults with spastic-type CP with a mean age of 25 (range, 15-51) years; mean ± SD body mass 70.15 ± 21.35 kg; Gross Motor Function Classification System (GMFCS) level I n=20, level II n=13...
February 10, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29437246/early-movement-restriction-leads-to-enduring-disorders-in-muscle-and-locomotion
#5
Maxime Delcour, Vicky S Massicotte, Michaël Russier, Hélène Bras, Julie Peyronnet, Marie-Hélène Canu, Florence Cayetanot, Mary F Barbe, Jacques-Olivier Coq
Motor control and body representation in the central nervous system (CNS) as well as musculoskeletal architecture and physiology are shaped during development by sensorimotor experience and feedback, but the emergence of locomotor disorders during maturation and their persistence over time remain a matter of debate in the absence of brain damage. By using transient immobilization of the hind limbs, we investigated the enduring impact of postnatal sensorimotor restriction (SMR) on gait and posture on treadmill, age-related changes in locomotion, musculoskeletal histopathology and Hoffmann reflex in adult rats without brain damage...
February 13, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29436487/intraoperative-identification-of-the-corticospinal-tract-and-dorsal-column-of-the-spinal-cord-by-electrical-stimulation
#6
Vedran Deletis, Kathleen Seidel, Francesco Sala, Andreas Raabe, Darko Chudy, Juergen Beck, Karl F Kothbauer
OBJECTIVES: Anatomical identification of the corticospinal tract (CT) and the dorsal column (DC) of the exposed spinal cord is difficult when anatomical landmarks are distorted by tumour growth. Neurophysiological identification is complicated by the fact that direct stimulation of the DC may result in muscle motor responses due to the centrally activated H-reflex. This study aims to provide a technique for intraoperative neurophysiological differentiation between CT and DC in the exposed spinal cord...
February 7, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29436374/kinesio-taping-associated-with-acupuncture-in-the-treatment-of-the-paretic-upper-limb-after-stroke
#7
Moisés Schabarum Dall'Agnol, Fernanda Cechetti
Consider the leading cause of disability in adults, stroke leads to different consequences, like hemiparesis and loss of function in the upper limb which can impair the performance of activities during daily life. Different techniques have been used to soften this process, like Acupuncture and Kinesio Taping (KT). However, there is no consensus on their concomitant effect on neurological patients. This study aimed to analyze the effects of acupuncture associated with KT on the upper limb of patients with chronic hemiparesis after stroke...
January 4, 2018: Journal of Acupuncture and Meridian Studies
https://www.readbyqxmd.com/read/29433419/changes-in-tactile-function-during-intensive-bimanual-training-in-children-with-unilateral-spastic-cerebral-palsy
#8
Geoffroy Saussez, Marie Van Laethem, Yannick Bleyenheuft
Recently, an intensive bimanual intervention using sensory enriched materials resulted in improved tactile function in children with unilateral spastic cerebral palsy (USCP), raising the question of whether the observed tactile function improvement was due to the sensory enriched environment or the bimanual intervention per se. The present study investigates whether a bimanual intensive intervention improves tactile function. Nineteen children with USCP received 90 hours of bimanual training without enriched environment...
March 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29433186/traumatic-atlantoaxial-spondyloptosis-associated-with-displaced-odontoid-fracture-complete-reduction-via-posterior-approach-using-joint-remodeling-technique
#9
Amandeep Kumar, Gaurav Varshney, Pankaj K Singh, Deepak Agrawal, Guru D Satyarthee, Poodipedi S Chandra, Shashank S Kale, Ashok K Mahapatra
BACKGROUND: Atlantoaxial spondyloptosis (AAS), which is defined as complete displacement of facets of atlas anterior to the facets of axis such that there is no contact between the 2 articulating surfaces, is an extremely rare manifestation of atlantoaxial instability. The reason for an extreme rarity of traumatic AAS is probably the severity of injury in traumatic AAS that is usually incompatible to life. It represents the most severe form of atlantoaxial dislocation, and complete reduction in such a case presents a real technical challenge because of the interlocking of C1-C2 facets...
February 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29433185/c1-2-and-c2-3-instability-in-the-presence-of-hypoplastic-posterior-elements-of-c2-vertebra-report-of-2-cases
#10
Atul Goel, Apurva Prasad, Abhidha Shah, Sandeep More
BACKGROUND: We present 2 cases involving a previously unreported clinical situation in which basilar invagination, atlantoaxial instability, and C2-3 instability were associated with a bifid posterior arch of the axis bone. CASE DESCRIPTIONS: Two young males presented with limb weakness, spasticity, and paresthesias. Both patients had altered voice quality, with reduced and thin volume, and difficulty sleeping supine. Radiologic imaging showed an absence of the posterior elements of the C2 vertebrae...
February 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29433091/the-influence-of-lower-limb-impairments-on-racerunning-performance-in-athletes-with-hypertonia-ataxia-or-athetosis
#11
Marietta L van der Linden, Sadaf Jahed, Nicola Tennant, Martine H G Verheul
OBJECTIVES: RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled running bike that has a saddle and a chest plate for support but no pedals. For RaceRunning to be included as a Para athletics event, an evidence-based classification system is required. Therefore, the aim of this study was to assess the association between a range of impairment measures and RaceRunning performance. METHODS: The following impairment measures were recorded: lower limb muscle strength assessed using Manual Muscle Testing (MMT), selective voluntary motor control assessed using the Selective Control Assessment of the Lower Extremity (SCALE), spasticity recorded using both the Australian Spasticity Assessment Score (ASAS) and Modified Ashworth Scale (MAS), passive range of motion (ROM) of the lower extremities and the maximum static step length achieved on a stationary bike (MSSL)...
February 5, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29432722/the-clinical-assessment-of-spasticity-in-people-with-spinal-cord-damage-recommendations-from-the-ability-network-an-international-initiative
#12
Anand V Nene, Alexandre Rainha Campos, Klemen Grabljevec, Arminda Lopes, Bengt Skoog, Anthony S Burns
A thorough assessment of the extent and severity of spasticity, and its impact on functioning, is central to the effective management of spasticity in persons with spinal cord damage (SCD). These individuals, however, do not always receive adequate assessment of their spasticity. Inadequate assessment compromises management when the impact of spasticity and/or need for intervention are not fully recognized. Assessment is also central to determining treatment efficacy. A barrier to spasticity assessment has been the lack of consensus on clinical and functional measures suitable for routine clinical practice...
February 9, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29432019/binding-of-tolperisone-hydrochloride-with-human-serum-albumin-effects-on-the-conformation-thermodynamics-and-activity-of-hsa
#13
Gulam Rabbani, Eun Ju Lee, Khurshid Ahmad, Mohammad Hassan Baig, Inho Choi
Tolperisone hydrochloride (TH) has muscle relaxant activity, and has been widely used for several years in clinical practice to treat pathologically high skeletal muscle tone (spasticity) and related pains. The current study was designed to explore the binding efficacy of TH with human serum albumin (HSA) using a multispectroscopic approach, FRET, esterase-like activity, and a molecular docking method. A reduction in fluorescence emission at 340 nm of HSA was attributed to florescence quenching by TH via a static quenching type...
February 12, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29430868/a-novel-homozygous-ap4b1-mutation-in-two-brothers-with-ap-4-deficiency-syndrome-and-ocular-anomalies
#14
Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau, Jacques L Michaud, Myriam Srour
Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype...
February 12, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29428567/clinical-features-of-fatal-severe-fever-with-thrombocytopenia-syndrome-that-is-complicated-by-invasive-pulmonary-aspergillosis
#15
Xiancheng Chen, Zhuxi Yu, Yajun Qian, Danjiang Dong, Yingying Hao, Ning Liu, Qin Gu
INTRODUCTION: Severe fever with thrombocytopenia syndrome (SFTS) has been prevalent in parts of Asia during recent years. However, SFTS with invasive pulmonary aspergillosis (IPA) is rare, and it is important to understand its clinical features. MATERIALS AND METHODS: Total four cases of SFTS with IPA are reviewed and detailing the disease progression, treatment options, and prognosis were summarized and analyzed. RESULTS: The patients with SFTS-associated IPA first presented with fever, gastrointestinal symptoms, thrombocytopenia, leukopenia, and multiple organ failure...
February 7, 2018: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29428470/dsp-6952-a-novel-5-ht4-receptor-partial-agonist-inhibits-visceral-hypersensitivity-and-ameliorates-gastrointestinal-dysfunction-in-experimental-animals
#16
Yukiko Mine, Tomohiro Itakura, Seiko Oku, Reiko Asada, Isao Shimizu
The pharmacological profile of DSP-6952, a novel 5-HT4 receptor partial agonist, was investigated to evaluate the potential use for GI disorders, and to compare its effects in some GI dysfunction models with those of clinically efficacious prokinetic agents. DSP-6952 enhanced gastric motility and caused colonic giant migrating contractions (GMCs) associated with defecation in conscious dogs, having ED50 value for inducing GMCs of 1.56mg/kg. DSP-6952 (3-10mg/kg, i.g.) significantly enhanced colonic transit rate in guinea pigs; this enhancement was antagonized by SB-207266, a selective 5-HT4 receptor antagonist...
February 8, 2018: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29428347/optimizing-the-management-of-spasticity-in-people-with-spinal-cord-damage-a-clinical-care-pathway-for-assessment-and-treatment-decision-making-from-the-ability-network-an-international-initiative
#17
Indira Lanig, Peter New, Anthony S Burns, Gerald Bilsky, Jesus Benito-Penalva, Djamel Bensmail, Michael Yochelson
The recognition, evaluation and management of disabling spasticity in persons with spinal cord damage (SCD) is a challenge for healthcare providers, health systems and patients. To guide the assessment and management of disabling spasticity in individuals with SCD, the Ability Network, an international panel of clinical experts, developed a clinical care pathway. The aim of this pathway is to facilitate treatment decisions that take into account the impact of disabling spasticity on health status, individual preferences and treatment goals, tolerance for adverse events, and burden on caregivers...
February 8, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29428154/neonatal-infection-in-children-with-cerebral-palsy-a-registry-based-cohort-study
#18
Anne-Sophie Smilga, Jarred Garfinkle, Pamela Ng, John Andersen, David Buckley, Darcy Fehlings, Adam Kirton, Ellen Wood, Esias van Rensburg, Michael Shevell, Maryam Oskoui
BACKGROUND: The goal of this study was to explore the association between neonatal infection and outcomes in children with cerebral palsy. METHODS: We conducted a retrospective cohort study using the Canadian CP Registry. Neonatal infection was defined as meeting one of the following criteria: (1) septicemia, (2) septic shock, or (3) administration of antibiotics for ≥10 days. Phenotypic profiles of children with cerebral palsy with and without an antecedent neonatal infection were compared...
December 13, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29428080/reliability-of-a-clinical-3d-freehand-ultrasound-technique-analyses-on-healthy-and-pathological-muscles
#19
Francesco Cenni, Simon-Henri Schless, Lynn Bar-On, Erwin Aertbeliën, Herman Bruyninckx, Britta Hanssen, Kaat Desloovere
BACKGROUND AND OBJECTIVE: 3D freehand Ultrasonography is a medical imaging technique that can be used to measure muscle and tendon morphological and structural properties, including volume, lengths and echo-intensity. These properties are clinically relevant in neurological disorders such as spastic cerebral palsy to monitor disease progression and evaluate the effect of treatment. This study presents a methodology for extracting these parameters along with a clinical reliability analysis for the data acquisition and processing...
March 2018: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/29424661/preventive-care-among-primary-care-patients-living-with-spinal-cord-injury
#20
Aisha Lofters, Maha Chaudhry, Morgan Slater, Andree Schuler, James Milligan, Joseph Lee, Sara J T Guilcher
OBJECTIVE: Context/Objective: Family physicians may lack the knowledge or resources to adequately support patients with spinal cord injury (SCI). Our objectives were to determine patterns of preventive care for patients with SCI in a primary care setting (i.e. cancer screening, influenza vaccinations, general physicals, bone mineral density tests), and determine physicians' level of comfort with providing primary care to patients with SCI. DESIGN: i) Retrospective chart review, ii) Survey of physicians in the family practice...
February 9, 2018: Journal of Spinal Cord Medicine
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