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https://www.readbyqxmd.com/read/29131041/skin-manifestations-of-targeted-antineoplastic-therapy
#1
Onofre Sanmartín
The management of oncology patients has changed significantly over recent years, with the development of new targeted anticancer therapies. Cutaneous adverse effects are among the most frequently observed toxicities with many targeted agents; their intensity can be dose-limiting or lead to the discontinuation of therapy. Tyrosine kinase inhibitors can cause maculopapular rash and hand-foot reaction, whereas papulopustular rash, paronychia, regulatory changes in hair, and dryness are caused by epidermal growth factor receptor inhibitors...
2018: Current Problems in Dermatology
https://www.readbyqxmd.com/read/29124438/reorganization-of-sensory-input-at-brainstem-in-hemifacial-spasm-and-postparalytic-facial-syndrome
#2
Meral E Kızıltan, Ayşegul Gunduz
We hypothesized the filtering of sensory input from face and hand at brainstem may reorganize in hemifacial spasm (HFS) and postparalytic facial syndrome (PFS). Thus, we examined the prepulse inhibition of blink reflex (BR-PPI) in HFS and PFS. We included 12 healthy subjects, 13 patients with HFS, and 11 patients with PFS. Baseline BR, BR recovery at interstimulus interval (ISI) of 300 ms and BR-PPI at ISI of 100 ms were performed on the right sides of healthy subjects and on both sides of patients. Within-subject analysis showed baseline BR and BR-PPI were similar between asymptomatic and symptomatic sides of patients with HFS whereas BR recovery was higher on the symptomatic side...
November 9, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#3
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29047014/a-callosal-catastrophe-toxic-leukoencephalopathy-associated-with-thermogenic-weight-loss-supplement-use
#4
Zakraus K Mahdavi, Ram Narayan, Shraddha Mainali, Benjamin M Greenberg, Venkatesh Aiyagari, David L McDonagh
BACKGROUND: The use of weight loss drugs and dietary supplements is common, but safety profiles for these drugs are largely unknown. Reports of toxicity have been published, and the use of these agents should be considered in clinical differential diagnoses. METHODS: We report the case of a patient with toxic leukoencephalopathy and hyponatremia associated with oral consumption of a thermogenic dietary supplement and essential oils. RESULTS: A 30-year-old woman presented after 2 days of headache, blurred vision, photophobia, vomiting, and hand spasms...
October 18, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28981930/-report-of-a-case-with-14q12-triplication-and-literature-review-for-foxg1-related-diseases
#5
Fangfang Wang, Rong Luo, Bin Zhou, Tao Yu, Xiaolu Chen
OBJECTIVE: To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene. METHODS: The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review. RESULTS: The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28905530/nonspecific-bronchoprovocation-test
#6
REVIEW
Myoung Kyu Lee, Hyoung Kyu Yoon, Sei Won Kim, Tae Hyung Kim, Seoung Ju Park, Young Min Lee
Bronchial asthma is a disease characterized by the condition of airway hyper-responsiveness, which serves to produce narrowing of the airway secondary to airway inflammation and/or various spasm-inducing stimulus. Nonspecific bronchoprovocation testing is an important method implemented for the purpose of diagnosing asthma; this test measures the actual degree of airway hyper-responsiveness and utilizes direct and indirect bronchoprovocation testing. Direct bronchoprovocation testing using methacholine or histamine may have superior sensitivity as these substances directly stimulate the airway smooth muscle cells...
October 2017: Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28866981/carpal-spasm-in-a-girl-as-initial-presentation-of-celiac-disease-a-case-report
#7
Atifete Ramosaj-Morina, A Keka-Sylaj, V Hasbahta, A Baloku-Zejnullahu, M Azemi, R Zunec
BACKGROUND: Celiac disease is an immune-mediated disorder elicited by ingestion of gluten in genetically susceptible persons. This disorder is characterized by specific histological changes of the small intestine mucosa resulting in malabsorption. This case was written up as it was an unusual and dramatic presentation of celiac disease. CASE PRESENTATION: We report the case of a 3-year-old Albanian girl who presented at our clinic with carpal spasms and hand paresthesia...
September 4, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#8
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...
October 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28798477/er-k-linked-gpcr-g-protein-fusions-systematically-modulate-second-messenger-response-in-cells
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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