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https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#1
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29790978/mobilization-of-the-anterior-posterior-inferior-cerebellar-artery-on-the-cerebellar-surface-in-microvascular-decompression-surgery-for-hemifacial-spasm-potential-effect-on-hearing-preservation
#2
Kenichi Amagasaki, Saiko Watanabe, Atushi Hosono, Hiroshi Nakaguchi
BACKGROUND: The infrafloccular approach in microvascular decompression (MVD) for hemifacial spasm (HFS) reduces the risk of postoperative hearing impairment. However, location of the anterior/posterior inferior cerebellar artery (AICA/PICA) on the cerebellar surface in the surgical route requires mobilization to maintain the approach direction for the protection of hearing function. OBJECTIVE: To evaluate the effectiveness of mobilization of the AICA/PICA on the cerebellar surface in the surgical route...
May 22, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29790968/-macrovascular-decompression-of-dolichoectatic-vertebral-artery-causing-hemifacial-spasm-using-goretex-sling-2-dimensional-operative-video
#3
Stephan A Munich, Jacques J Morcos
Hemifacial spasm is characterized by painless and involuntary spasms of the muscles supplied by the facial nerve, most commonly involving the orbicularis oculi. The most common cause of hemifacial spasm is compression of the facial nerve's root by the anterior inferior, or posterior inferior, cerebellar arteries (AICA or PICA). However, in <1% of cases, the compression can be due to a dolichoectatic vertebral artery. Microvascular decompression using Teflon patties may be sufficient when the offending artery is small (eg, AICA or PICA)...
May 22, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29789705/the-short-term-effect-of-ultrasound-and-peripheral-nerve-stimulator-guided-femoral-nerve-block-with-phenol-on-the-outcomes-of-patients-with-traumatic-spinal-cord-injury
#4
Yasin Demir, Ayça Uran Şan, Serdar Kesikburun, Evren Yaşar, Bilge Yılmaz
STUDY DESIGN: A pre-post descriptive study. OBJECTIVES: To examine the immediate effects of ultrasound-guided femoral nerve block with phenol (UGFNBwP) in managing the lower limb spasticity of individuals with traumatic spinal cord injury (SCI). SETTING: Ankara, Turkey. METHODS: Nineteen patients with traumatic SCI presenting with lower extremity spasticity were treated with UGFNBwP. Modified Ashworth Scale of hip flexion and knee extension, functional independence measure motor subscale, difficulty of catheterization, hygiene score, spasm frequency, sleep quality, and patient satisfaction (PS) were measured in all patients prior to treatment, in the first week and second month...
May 22, 2018: Spinal Cord
https://www.readbyqxmd.com/read/29789138/introduction-to-primary-hemifacial-spasm-a-neurosurgical-disease
#5
P Mercier, M Sindou
Primary hemifacial spasm is a hyperactive cranial nerve syndrome. The cause is always a neurovascular compression, generally at the root exit zone from the brainstem. Its curative treatment is microvascular compression, that may be performed as a first option, or secondarily when botulinum toxin injections fail.
May 19, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29788154/macrovascular-decompression-of-facial-nerve-with-anteromedial-transposition-of-a-dolichoectatic-vertebral-artery-3-dimensional-operative-video
#6
Halima Tabani, Sonia Yousef, Jan-Karl Burkhardt, Sirin Gandhi, Arnau Benet, Michael T Lawton
Most cranial nerve compression syndromes (ie, trigeminal neuralgia and hemifacial spasm) are caused by small arteries impinging on a nerve and are relieved by microvascular decompression. Rarely, cranial nerve compression syndromes can be caused by large artery impingement and can be relieved by macrovascular decompression. When present, this compression often occurs in association with degenerative atherosclerosis in the vertebral arteries (VA) and basilar artery. Conservative treatment is recommended for mild forms, but surgical transposition of the VA away from the root entry zone (REZ) can be considered...
May 21, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29787923/epileptic-spasms-evidence-for-oral-corticosteroids-and-implications-for-low-and-middle-income-countries
#7
REVIEW
Sharika V Raga, Jo M Wilmshurst
Implementation of international guidelines for the treatment of epileptic spasms, is challenging when access to adrenocorticotrophic hormone (ACTH) and vigabatrin is restricted, especially in Low and Middle Income Countries (LMIC). Oral corticosteroids are alternative interventions but evidence for the optimal agent, dose, duration, efficacy and long-term effects is lacking. A systematic review of the literature was performed to assess the quality of evidence of prednisone and prednisolone (oral corticosteroids) for the management of epileptic spasms...
May 19, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29785989/cerebral-visual-impairment-in-children-causes-and-associated-ophthalmological-problems
#8
Niranjan Pehere, Pratik Chougule, Gordon N Dutton
Purpose: The aim of this study is to identify common causes, associated ophthalmological abnormalities, and systemic comorbidities in children in Andhra Pradesh, India, with cerebral visual impairment (CVI). Methods: A retrospective review of case records of all children aged <16 years with diagnosis of CVI seen between January 2016 and December 2016 was carried out. Data were collected for their age, gender, cause of CVI, refraction, accommodation, anterior and posterior segment examination findings, and systemic problems...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29784621/endoscope-assisted-retrosigmoid-approach-in-hemifacial-spasm-our-experience
#9
Giampietro Ricci, Arianna Di Stadio, Luca D'Ascanio, Ruggero La Penna, Franco Trabalzini, Antonio Della Volpe, Jacques Magnan
INTRODUCTION: The use of surgical decompression of facial hemispasm due to the loop in the internal auditory canal is not always accepted due to the risk related to the surgical procedure. Currently a new surgical technique allows surgeons to work in safer conditions. OBJECTIVE: To report the results with endoscope-assisted retrosigmoid approach for facial nerve microvascular decompression in hemifacial spasm due to neurovascular conflict. The surgical technique is described...
May 9, 2018: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29784450/physician-assessed-and-patient-reported-urinary-morbidity-after-radio-chemotherapy-and-image-guided-adaptive-brachytherapy-for-locally-advanced-cervical-cancer
#10
Lars Fokdal, Richard Pötter, Kathrin Kirchheiner, Jacob Chr Lindegaard, Nina Boje Kibsgaard Jensen, Christian Kirisits, Cyrus Chargari, Umesh Mahantshetty, Ina Maria Jürgenliemk-Schulz, Barbara Segedin, Peter Hoskin, Kari Tanderup
BACKGROUND AND PURPOSE: The EMBRACE study is a prospective multi-institutional study on MRI guided adaptive brachytherapy (IGABT) in locally advanced cervix cancer (LACC). This analysis describes early to late urinary morbidity assessed by physicians and patients (PRO). MATERIAL AND METHODS: A total of 1176 patients were analysed. Median follow up (FU) was 27 (1-83) months. Morbidity (CTCAE v.3) and PRO (EORTC QLQ-C30&CX24) was prospectively assessed at baseline (BL), and during FU...
May 18, 2018: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/29784434/cell-therapy-with-autologous-mesenchymal-stromal-cells-in-post-traumatic-syringomyelia
#11
Jesús Vaquero, Mercedes Zurita, Miguel A Rico, Concepcion Aguayo, Cecilia Fernandez, Gregorio Rodriguez-Boto, Esperanza Marin, Noemi Tapiador, Marta Sevilla, Joaquin Carballido, David Vazquez, Damian Garcia-Olmo, Hector Guadalajara, Miguel Leon, Ignacio Valverde
BACKGROUND AIMS: Recently, clinical studies show that cell therapy with mesenchymal stromal cells (MSCs) improves the sequelae chronically established in paraplegic patients, being necessary to know which of them can obtain better benefit. METHODS: We present here a phase 2 clinical trial that includes six paraplegic patients with post-traumatic syringomyelia who received 300 million MSCs inside the syrinx and who were followed up for 6 months. Clinical scales, urodynamic, neurophysiological, magnetic resonance (MR) and studies of ano-rectal manometry were performed to assess possible improvements...
May 18, 2018: Cytotherapy
https://www.readbyqxmd.com/read/29784430/microvascular-decompression-for-hemifacial-spasm-surgical-techniques-and-intraoperative-monitoring
#12
M Sindou, P Mercier
Primary hemifacial spasm with few exceptions is due to the vascular compression of the facial nerve that can be evidenced with high resolution MRI. Microvascular decompression is the only curative treatment for this pathology. According to literature review detailed in chapter "conflicting vessels", the compression is located at the facial Root Exit Zone (REZ) in 95% of the cases, and in 5% distally at the cisternal or the intrameatal portion of the root as the sole conflict or in addition to one at brainstem/REZ...
May 18, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29783237/-evaluation-on-changes-in-risk-of-spasm-of-accommodation-in-pupils-due-to-implementation-of-prevention-program
#13
Maryna O Starynets, Oleksandr M Ocheredko
OBJECTIVE: Introduction: Number of children with myopia increased 3-fold while those with spasm of accommodation followed a suit by 5-fold increase over last decade to some extend due to computerization. These tidings necessitate the development and implementation of primordial prevention programs. The aim was to evaluate the changes in risk of spasm of accommodation in pupils due to implementation of prevention program. PATIENTS AND METHODS: Materials and methods: Data collection was based on dynamic panel of pupils padding by first-formers over 2012-2015 and tracing up to 2017, sample size is 1115...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783234/-myocardial-bridge-as-the-only-cause-of-acute-coronary-syndrome-among-the-young-patients
#14
Liudmila O Miakinkova, Yurii V Teslenko, Irina V Tsyhanenko
OBJECTIVE: Introduction: Myocardial bridge is an inborn anomaly of coronary artery development, when a part of it is submerged in a myocard, which is pressing the coronary artery to a systola and restrains coronary blood circulation. Generally this feature of coronary blood circulation does not cause any clinical symptoms because the 85% of coronary blood stream of the left ventricle is provided by diastolic filling. Hemodynamic changes in atherosclerosis, tahicardie, hypertrophie of myocard are leading to the manifestation of clinical symptoms of ischemia...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29780109/a-case-of-cardiogenic-shock-due-to-pulseless-electrical-activity-arrest-associated-with-severe-coronary-artery-spasm
#15
Shozo Sueda, Kaori Fujimoto, Yasuhiro Sasaki, Hirokazu Habara, Hiroaki Kohno
A 75-year-old man was admitted to our hospital for follow-up coronary angiography. Just after starting coronary angiography, his electrocardiogram showed ST-segment elevation in the V1-6, I, II, and aVF leads, and he fell into catastrophic cardiogenic shock. His left coronary arteriogram showed proximal total obstruction in the left anterior descending artery and proximal subtotal occlusion in the left circumflex artery. Because pulseless electrical activity arrest was recognized, cardiopulmonary support was started...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29779974/administration-of-rotaglide%C3%A2-solution-for-treating-refractory-severe-radial-artery-spasm-a-case-report
#16
Vikram Raje, Sanah Christopher, Dennis A Hopkinson, Danielle A Kania, Ion S Jovin
Severe radial artery spasm is a complication of transradial cardiac catheterization. We describe a case of severe radial artery spasm causing catheter entrapment. The spasm was refractory and resistant to intra-arterial vasodilators, systemic vasodilators, and moderate sedation. Rotaglide™ (Boston Scientific, Marlborough, MA) solution via continuous infusion was delivered through the catheter and then the sheath, resolving the spasm and allowing the removal of the catheter and sheath without injury to the radial artery...
May 5, 2018: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/29779610/surgical-anatomy-for-hemifacial-spasm
#17
P Mercier, F Bernard
Classically in the cerebello-pontine angle the facial (CN VII) and vestibular-cochlear (CN VIII) nerves should run parallel with the anterior inferior cerebellar artery, whereas the lower nerves (CN IX-XI) continue with the posterior-inferior-cerebellar artery (PICA). In fact, this is not always true, particularly when dealing with hemispasm surgery where the relationships between CN VII, CN VIII and PICA are often different and closer. Knowledge of anatomical bases in surgical situation will help neurosurgeons to appreciate anatomical nuances, that are important to increase effectiveness and safety of hemifacial spasm surgery...
May 17, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29776555/sudden-coronary-death-in-the-young-evidence-of-contractile-phenotype-of-smooth-muscle-cells-in-the-culprit-atherosclerotic-plaque
#18
Stefania Rizzo, Matteo Coen, Antonija Sakic, Monica De Gaspari, Gaetano Thiene, Giulio Gabbiani, Cristina Basso, Marie-Luce Bochaton-Piallat
BACKGROUND: Culprit coronary atherosclerotic plaques (APs) from young sudden cardiac death (SCD) victims are mostly non-atheromatous, i.e., consisting of proliferative smooth muscle cells (SMCs). Coronary vasospasm has been advocated to explain plaque instability in the absence of thrombosis. Our aim was to characterize the SMC phenotype in the intima and media of coronary arteries from young SCD victims. METHODS AND RESULTS: A total of 38 coronary artery segments were studied: (a) 18 APs from young (≤40 years old) SCD patients, (b) 9 APs from old (>40 years old) SCD patients, (c) 11 non-atherosclerotic coronary arteries from young patients (≤40 years old)...
August 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29775120/successful-improvement-of-pain-symptomatology-in-a-suspected-case-of-cramp-fasciculation-syndrome-via-interventional-pain-treatment
#19
Anita Gupta, Lucas First, Celeste A Swain
Peripheral nerve hyperexcitability (PNH) syndromes are a rare set of neuromuscular disorders that include cramp-fasciculation syndrome (CFS) and Isaacs syndrome (IS). Successful treatment of these diseases has been achieved with antiepileptic medications; however, chronic pain symptoms can persist. We provide a case report of a 25-year-old female who has suffered from painful severe muscle spasms and fasciculations since childhood. With CFS as our working diagnosis, a treatment regimen using interventional pain techniques, including sympathetic chain blocks, ketamine infusions, and trigger point injections, resulted in a significant decrease in the patient's chronic pain symptoms...
May 18, 2018: Journal of Pain & Palliative Care Pharmacotherapy
https://www.readbyqxmd.com/read/29771429/the-relationship-between-number-and-function-of-epcs-and-concentration-of-vegf165-and-sdf-1-in-coronary-artery-spasm
#20
Z-Q Sheng, Y-F Li, K-L Zheng, H-H Lu, J Xie, H Wu, B Xu
OBJECTIVE: We aimed at investigating the functions of endothelial progenitor cells (EPCs) in the pathophysiology of coronary artery spasm (CAS) and coronary artery disease (CAD), as well as to evaluate the correlation of these diseases with the number and function of EPCs, the plasma concentration of vascular endothelial growth factor 165 (VEGF165) and stromal cell-derived factor 1 (SDF-1). PATIENTS AND METHODS: Participants were recruited into three groups, CAS, CAD and the control...
May 2018: European Review for Medical and Pharmacological Sciences
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