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https://www.readbyqxmd.com/read/28443623/novel-slc25a32-mutation-in-a-patient-with-a-severe-neuromuscular-phenotype
#1
Debby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, Alexandra T M Hendrickx, Ralph W Gottschalk, Janneke G J Hoeijmakers, Daphna D Habets, Jörgen Bierau, Kees G Schoonderwoerd, Hubert J M Smeets
In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance, exome sequencing revealed a novel homozygous variant (c.-264_31delinsCTCACAAATGCTCA) in the mitochondrial FAD-transporter gene SLC25A32. Flavin adenine dinucleotide (FAD) is an essential co-factor for many mitochondrial enzymes and impaired mitochondrial FAD-transport was supported by a reduced oxidative phosphorylation complex II activity in the patient's muscle, decreased ATP production in fibroblasts, and a deficiency of mitochondrial FAD-dependent enzymes...
April 26, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28443187/treatment-with-penicillin-g-and-hydrocortisone-reduces-als-associated-symptoms-a-case-series-of-three-patients
#2
Bert Tuk, Harmen Jousma, Pieter J Gaillard
Three male Caucasian patients with ALS were admitted to the hospital due to progressive dysphagia and dysarthria. During two 21-day courses of penicillin G and hydrocortisone, these patients' dysphagia and dysarthria resolved. The patient's other ALS-associated symptoms also improved, including respiratory function, coordination, walking, and muscle strength. This is the first report of a treatment with a protocol for treating dysphagia, dysarthria, respiratory depression and other ALS-related symptoms. Furthermore, the observations are consistent with the recent hypothesis that the successful treatment of ALS symptoms with this treatment course in six patients with syphilitic ALS was not directly due to the treatment of syphilis; but that the administered penicillin G and/or hydrocortisone treated these patients' ALS symptoms due the off-target pharmacological activity of penicillin G and/or hydrocortisone...
2017: F1000Research
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#3
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28433096/wilson-disease-neurologic-features
#4
Anna Członkowska, Tomasz Litwin, Grzegorz Chabik
Wilson disease (WD) is a neurodegenerative disorder, which presents as a spectrum of neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea, dysarthria, and dysphagia, together with a combination of neurologic symptoms that can easily lead to misdiagnosis. An early diagnosis of WD, and appropriate anticopper treatment, usually leads to a marked improvement in patient health. Conversely, delayed diagnosis can result in persistent pathology, which, left untreated, can ultimately prove lethal...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28427701/multiple-sclerosis-showing-elevation-of-adenosine-deaminase-levels-in-the-cerebrospinal-fluid
#5
Miharu Samuraki, Kenji Sakai, Yasuko Odake, Mitsuhiro Yoshita, Kouichi Misaki, Mitsutoshi Nakada, Masahito Yamada
An 80-year-old man developed dysarthria, quadriplegia, sensory disturbance and ataxia in all limbs. Brain and spinal magnetic resonance imaging (MRI) revealed multiple enhanced lesions. Cerebrospinal fluid (CSF) levels of adenosine deaminase (ADA) remarkably elevated. Tuberculosis DNA was not detected, and tuberculosis was not cultured either in the CSF. Brain biopsy revealed the inflammatory demyelinating lesions. With the diagnosis of multiple sclerosis, corticosteroid therapy resulted in rapid improvement of his symptoms and MRI abnormalities...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28422031/the-importance-of-labyrinthine-examination-in-the-prognosis-and-therapy-for-balance-in-spinocerebellar-ataxia
#6
João Henrique Faryniuk, Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive, Vinicius Ribas Fo, Paulo Breno Noronha Liberalesso, Jair Mendes Marques
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia. OBJECTIVE: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs. MATERIALS AND METHODS: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41...
April 19, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28416787/a-family-with-hereditary-cerebellar-ataxia-finally-confirmed-as-gerstmann-straussler-scheinker-syndrome-with-p102l-mutation-in-prnp-gene
#7
Ling Long, Xiaodong Cai, Yaqing Shu, Zhengqi Lu
Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28414688/ecg-of-the-month-mental-disturbance-for-4-days
#8
D Luke Glancy, Theresa Mills, Fred Lopez
A family brought their 61-year-old mother to the emergency department because for 4 days she had been confused, incoherent, and somnolent. She also had dysphagia, dysarthria, diplopia, and had fallen out of bed. She had been in the hospital 3 weeks earlier for atrial fibrillation and an exacerbation of congestive heart failure. She also carried a diagnosis of chronic obstructive pulmonary disease and used an albuterol inhaler. She was obese (BMI of 45); and had adult-onset diabetes mellitus. She had a 43 pack-year history of cigarette smoking but had recently quit...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28414663/not-another-acs-rule-out
#9
S Preston, R Nelson, M Watts, D Smith, T Dewenter, D Spruill
CASE: A 50 year old African-American woman with diabetes, hypertension, and hyperlipidemia presented with progressively worsening retro-sternal chest pain, exacerbated by activity and relieved by rest. She also endorsed a thirty-pound unintentional weight loss, and dysphagia. She was dysarthric with left-sided Bell's Palsy and a palpable left axillary lymph node. She had been evaluated at several hospitals in the previous months for similar typical chest pain. Her troponin values were normal, and an EKG showed T-wave inversions in leads I and aVL...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28409073/facial-paralysis-and-hearing-loss-a-rare-manifestation-of-prostate-cancer-metastases
#10
Uroosa Ibrahim, Amina Saqib, Farhan Mohammad, Muhammad R Raza, Nikhil Nalluri, Frank Forte
Dural prostate metastases (DPM) are a rare manifestation of metastatic prostate cancer seen in approximately one to six percent of cases. Presenting symptoms may include signs of elevated intracranial pressure, headache, altered mental status, or cranial nerve palsies. Hearing loss, sensory changes, dysarthria, and dysphagia are rare symptoms in DPM that were present in our patient. We present a case of a 58-year-old male with a known diagnosis of adenocarcinoma of the prostate presenting with symptoms of acute exacerbation of chronic obstructive pulmonary disease (COPD), sub-acute right-sided hearing loss, and right-sided facial paralysis...
March 3, 2017: Curēus
https://www.readbyqxmd.com/read/28400397/fluorescence-in-a-cryptococcoma-following-administration-of-5-aminolevulinic-acid-hydrochloride-gliolan
#11
Waldo Gerard Solis, Mitchell Hansen
A 54-year-old man presented with two episodes of dysarthria and left facial droop. Both episodes resolved by the time of examination. MRI of the brain revealed a right frontotemporal, heterogeneously enhancing mass with surrounding vasogenic oedema, suggestive of a high-grade primary brain neoplasm. The patient was administered preoperative 5-aminolevulinic acid hydrochloride (Gliolan), and fluorescence-guided resection of the lesion was undertaken. Cryptococcus gattii infection was diagnosed from the specimen and the patient was given appropriate antifungal treatment...
April 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28392953/acute-psychosis-as-main-manifestation-of-central-pontine-myelinolysis
#12
Mangala Gopal, Melvin Parasram, Harsh Patel, Chike Ilorah, Hrachya Nersesyan
Central pontine myelinolysis (CPM) is an acute demyelinating neurological disorder affecting primarily the central pons and is frequently associated with rapid correction of hyponatremia. Common clinical manifestations of CPM include spastic quadriparesis, dysarthria, pseudobulbar palsy, and encephalopathy of various degrees; however, coma, "locked-in" syndrome, or death can occur in most severe cases. Rarely, CPM presents with neuropsychiatric manifestations, such as personality changes, acute psychosis, paranoia, hallucinations, or catatonia, typically associated with additional injury to the brain, described as extrapontine myelinolysis (EPM)...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28377827/anti-yo-mediated-paraneoplastic-cerebellar-degeneration-associated-with-pseudobulbar-affect-in-a-patient-with-breast-cancer
#13
Allison N Martin, Patrick M Dillon, David E Jones, David R Brenin, David A Lapides
Paraneoplastic cerebellar degeneration (PCD) is a rare anti-Yo mediated paraneoplastic syndromes rarely that is infrequently associated with breast cancer. We present a case of a 52-year-old female presenting with diplopia, gait instability, dysarthria, dysphagia, nystagmus, and, most notably, new onset paroxysmal episodes of uncontrollable crying concerning for pseudobulbar affect (PBA). Serologic testing showed anti-Yo antibodies. The patient was found to have stage IIIA breast cancer as the inciting cause of the paraneoplastic syndrome...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28355722/-a-clinical-analysis-of-5-patients-with-infratentorial-primary-angiitis-of-central-nervous-system
#14
L J Peng, H R Qian, L L Mao, D Y Xia, X K Qi
Objective: To explore the clinical characteristics of infratentorial primary angiitis in central nervous system(PACNS). Methods: A total of 5 cases diagnosed as infratentorial PACNS in the neurology department of Navy General Hospital of PLA in 2015 were enrolled in the study. The clinical, imaging and pathological data were collected and analyzed. Results: All the 5 cases were male with the median onset age of thirty-four. Five cases presented with dizziness, two with headache, three with walking unstable, two with facial numbness and one with dysarthria...
April 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28347614/evolution-and-novel-radiological-changes-of-neurodegeneration-associated-with-mutations-in-c19orf12
#15
Marta Skowronska, Tomasz Kmiec, Elzbieta Jurkiewicz, Katarzyna Malczyk, Iwona Kurkowska-Jastrzębska, Anna Czlonkowska
INTRODUCTION: Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders with accumulation of iron in the brain, mostly basal ganglia. NBIA subtype mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by recently discovered mutations in C19orf12, which encodes a protein localized in the mitochondrial membrane. METHODS: The present and past radiological features of 14 MPAN patients were analyzed. RESULTS: Clinical evaluation did not reveal novel findings: spastic para- and tetraparesis with muscle atrophy are typical for MPAN...
March 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28341090/transient-isolated-lower-bulbar-palsy-with-elevated-serum-anti-gm1-and-anti-gd1b-antibodies-during-aripiprazole-treatment
#16
Tae Hwan Han, Do Yeon Kim, Dong Woo Park, Jin-Hwa Moon
BACKGROUND: Transient bulbar palsy without involvement of the facial or extraocular muscles is a rare presentation. It is considered a form of cranial polyneuropathy, a variant of Guillain-Barré syndrome that is related to the autoimmune mechanisms induced by preceding infections or vaccinations. However, drug-induced cranial polyneuropathy has not previously been reported. We describe a boy with isolated bulbar palsy and positive serum antiganglioside antibodies during aripiprazole treatment...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28323306/metronidazol-gav-sv%C3%A3-r-biverkning-med-neurologiska-symtom-m%C3%A3-jligen-finns-ett-m%C3%A3-rkertal-av-odiagnostiserade-patienter
#17
Marina Karayianni, Anders von Heijne, Ann-Charlotte Laska
Encefalopathy as a side effect of metronidazole therapy - a case report  Neurological symptoms as side effects of pharmacological treatment generally tend to remain underdiagnosed. In this report, we present a case of a 79 year old patient that developed encephalopathy whilst undergoing prophylactic treatment with Metronidazole. The initial presentation of disseminated neurological symptoms lead to the suspicion of a cerebrovascular lesion. However, exacerbation of symptomatology with gait disturbance, ataxia and dysarthria challenged the preliminary diagnosis...
March 20, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28322482/progressive-multifocal-leukoencephalopathy-associated-with-fumaric-acid-esters-treatment-in-psoriasis-patients
#18
Deepak M W Balak, Enes Hajdarbegovic, Wichor M Bramer, Martino H A Neumann, H Bing Thio
BACKGROUND: Fumaric acid esters (FAEs) are a systemic treatment for psoriasis considered to have a favorable long-term safety profile without an increased risk for immunosuppression. However, progressive multifocal leukoencephalopathy (PML), a rare, opportunistic viral infection of the central nervous system, has been linked anecdotally to FAE treatment. OBJECTIVE: to assess clinical features and outcomes of FAE-associated PML cases. METHODS: Systematic literature search in multiple databases up to February, 25(th) 2016 for reports of PML in psoriasis patients treated with FAEs...
March 21, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28321080/the-improvement-of-the-outcome-of-osmotic-demyelination-syndrome-by-plasma-exchange
#19
Saeko Kumon, Ryosuke Usui, Shinzo Kuzuhara, Kosaku Nitta, Minako Koike
A 71-year-old Japanese woman presented with progressive fatigue, lethargy, dysarthria and a gait disorder. Her laboratory data revealed hyponatremia (Na 101 mEq/L), and we started correcting her serum sodium level. Within a few days, she became comatose, bedridden, and was intubated. We diagnosed osmotic demyelination syndrome (ODS) and started performing plasma exchange (PE) on the 39th day of hospitalization. She fully recovered after starting PE, and was discharged on foot unassisted. PE can be a beneficial treatment in patients with chronic ODS...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28320669/regularized-speaker-adaptation-of-kl-hmm-for-dysarthric-speech-recognition
#20
Myungjong Kim, Younggwan Kim, Joohong Yoo, Jun Wang, Hoirin Kim
This paper addresses the problem of recognizing the speech uttered by patients with dysarthria, which is a motor speech disorder impeding the physical production of speech. Patients with dysarthria have articulatory limitation, and therefore, they often have trouble in pronouncing certain sounds, resulting in undesirable phonetic variation. Modern automatic speech recognition systems designed for regular speakers are ineffective for dysarthric sufferers due to the phonetic variation. To capture the phonetic variation, Kullback-Leibler divergence based hidden Markov model (KL-HMM) is adopted, where the emission probability of state is parametrized by a categorical distribution using phoneme posterior probabilities obtained from a deep neural network-based acoustic model...
March 13, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
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