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Shimpei Baba, Takashi Saito, Yasukazu Yamada, Eri Takeshita, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu, Masayuki Sasaki
Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient...
October 18, 2016: Nucleosides, Nucleotides & Nucleic Acids
Fahad A Bashiri, Abdulrahman A Al-Rasheed, Saeed M Hassan, Muddathir H A Hamad, Heba Y El Khashab, Amal Y Kentab, Fahad B AlBadr, Mustafa A Salih
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls with the disorder are reported; they were aged 4 years, 5 years and 10 months. The 10-month-old infant who is one of the youngest patients reported with anti-NMDAR encephalitis worldwide, had MRI features suggestive of herpes simplex encephalitis (known to trigger anti-NMDAR encephalitis), but CSF PCR for herpes simplex was negative...
June 22, 2016: Paediatrics and International Child Health
José Luiz Pedroso, Thiago Cardoso Vale, Marcos Knobel, Rodrigo Meirelles Massaud, Elias Knobel
Poststroke movement disorders may manifest as parkinsonism, dystonia, chorea, ballism, athetosis, tremor, myoclonus, stereotypies, and akathisia. In this article, we describe a patient with clonic perseveration 2 days after an acute ischemic stroke. We discuss the phenomenology and provide insights on possible pathophysiological mechanisms involved.
August 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Kylee Tustin, Hortensia Gimeno, Erin Morton, Jonathan Marsden
AIM: To examine intra- and interrater reliability/agreement, and time taken to score, when the Quality Function Measure (QFM) is applied to children with hyperkinetic movement disorders (HMD; e.g. dystonia, chorea, athetosis, tremor, and myoclonus). METHOD: Fifteen ambulant children with HMD participated (eight males, seven females; mean age 13y 7mo, SD 3y 7mo). Three trained raters (two physiotherapists, one occupational therapist) independently scored the QFM using videos of each child performing Gross Motor Function Measure (GMFM) Stand and Walk/Run/Jump dimensions...
August 2016: Developmental Medicine and Child Neurology
William Alves Martins, Luiz Carlos Porcello Marrone, Helena Fussiger, Viviane Maria Vedana, Rafael do Amaral Cristovam, Marjorye Z Taietti, Antonio Carlos Huf Marrone
Movement disorders are not commonly associated with stroke. Accordingly, thalamic strokes have rarely been associated with tremor, pseudo-athetosis and dystonic postures. We present a 75-year-old man who developed a disabling tremor 1 year after a posterolateral thalamic stroke. This tremor had low frequency (3-4 Hz), did not disappear on focus and was exacerbated by maintaining a static posture and on target pursuit, which made it very difficult to perform basic functions. MRI demonstrated an old ischemic lesion at the left posterolateral thalamus...
April 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Angelika Richter, Melanie Hamann, Jörg Wissel, Holger A Volk
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research...
2015: Frontiers in Veterinary Science
(no author information available yet)
The Food and Drug Administration (FDA or the Agency) is publishing an order granting a petition requesting exemption from premarket notification requirements for electric positioning chair devices. An electric positioning chair is a device with a motorized positioning control that is intended for medical purposes and that can be adjusted to various positions. These devices are used to provide stability for patients with athetosis (involuntary spasms) and to alter postural positions. This order exempts electric positioning chairs, class II devices, from premarket notification, subject to certain conditions for exemption...
November 20, 2015: Federal Register
Elena Cellini, Aglaia Vignoli, Tiziana Pisano, Melania Falchi, Anna Molinaro, Patrizia Accorsi, Alessia Bontacchio, Lorenzo Pinelli, Lucio Giordano, Renzo Guerrini
AIM: Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG1 syndrome have often been mentioned but not characterized. METHOD: We clinically assessed and analysed video recordings of eight patients with different mutations or copy number variations affecting the FOXG1 gene and describe the peculiar pattern of the associated movement disorder...
January 2016: Developmental Medicine and Child Neurology
Dan Ding, Sergio Peral Rodriguez, Rory A Cooper, Cameron N Riviere
Prior work has highlighted the challenges faced by people with athetosis when trying to acquire on-screen targets using a mouse or trackball. The difficulty of positioning the mouse cursor within a confined area has been identified as a challenging task. We have developed a target acquisition assistance algorithm that features transition assistance via directional gain variation based on target prediction, settling assistance via gain reduction in the vicinity of a predicted target, and expansion of the predicted target as the cursor approaches it...
2015: Assistive Technology: the Official Journal of RESNA
Ali Ataya, Eloise Harman
A 39-year-old black man presented with a 2-week history of progressively worsening involuntary movements of the left arm that had been sudden in onset. His medical history consisted of hypertension and poorly controlled diabetes that were now under control. A physical examination revealed chorea of..
May 21, 2015: New England Journal of Medicine
Maria Jaquelini Dias dos Santos, Dionísia Aparecida Cusin Lamônica, Maria Valeriana Leme de Moura Ribeiro, Wendy McCracken, Leandra Tabanez do Nascimento Silva, Orozimbo Alves Costa
OBJECTIVE: Analyze the progress of hearing and language in a group of children with cerebral palsy (CP) who have received cochlear implants (CI) and compare their progress in the clinical and functional domains. METHODS: This is a prospective transdisciplinary study developed within a tertiary referral center, with a group of nine cochlear-implanted children with CP, two- to seven-year-old. The assessments undertaken included audiological, language, and communication assessments complemented by the assessment of functional abilities and the level of independence as evaluated by the Pediatric Evaluation of Disability Inventory (PEDI) and Gross Motor Function Classification System (GMFCS)...
July 2015: International Journal of Pediatric Otorhinolaryngology
Manoel J Teixeira, Humberto K Schroeder, Guilherme Lepski
Spasticity represents a common and very often incapacitating neurologic condition, for which a limited number of treatment options are available. Stereotactic ablation of the dentate cerebellar nuclei (dentatotomy) was widely used in the past with variable results. In the present study, we reviewed 12 consecutive cases operated on at the Midland Centre for Neurosurgery and Neurology at Birmingham University (Smetwick, UK) in the 1980s. The following clinical aspects were analyzed: severity of spasticity, occurrence of abnormal movements (dystonia/athetosis), language fluency, gait, and overall clinical condition...
December 2015: British Journal of Neurosurgery
Ichiro Morioka, Hajime Nakamura, Tsubasa Koda, Hitomi Sakai, Daisuke Kurokawa, Masahiko Yonetani, Takeshi Morisawa, Yoshinori Katayama, Hiroshi Wada, Masahisa Funato, Akihiro Takatera, Akihisa Okumura, Itsuko Sato, Seiji Kawano, Kazumoto Iijima
BACKGROUND: This study aimed to evaluate peak serum total bilirubin (TB) and unbound bilirubin (UB) levels in preterm infants with clinical kernicterus (KI) who were diagnosed by clinical findings during infancy. DESIGN/SUBJECTS: For this multicenter retrospective study, 18 Japanese extremely low birth weight (ELBW) infants with clinical KI were included. Clinical KI was diagnosed based on the presence of motor developmental impairment with/without athetosis, and abnormal magnetic resonance imaging or brainstem auditory evoked potential findings during infancy...
September 2015: Brain & Development
Chiara Bertossi, Matteo Cassina, Ambra Cappellari, Irene Toldo, Margherita Nosadini, Chiara Rigon, Agnese Suppiej, Stefano Sartori
BACKGROUND: 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome. A mixture of jerks, athetosis, chorea, and dystonia is observed early in life in many patients. The aim of this article is to report on the spectrum of movement disorders associated with FOXG1 haploinsufficiency, as described in the literature. PATIENTS AND METHODS: We provide a review of the cases reported in the literature, adding two new patients...
February 2015: Neuropediatrics
Ana Filipa Santos, Sofia Rocha, Sara Varanda, João Pinho, Margarida Rodrigues, João Ramalho Fontes, João Soares-Fernandes, Carla Ferreira
Hypertrophic olivary degeneration is a rare kind of trans-synaptic degeneration that occurs after lesions of the dentatorubro-olivary pathway. The lesions, commonly unilateral, may result from hemorrhage due to vascular malformation, trauma, surgical intervention or hypertension, tumor, or ischemia. Bilateral cases are extremely rare. This condition is classically associated with development of palatal tremor, but clinical manifestations can include other involuntary movements. We describe 2 cases: unilateral hypertrophic olivary degeneration in a 60-year-old man with contralateral athetosis and neurologic worsening developing several years after a pontine hemorrhage and bilateral hypertrophic olivary degeneration in a 77-year-old woman with development of palatal tremor, probably secondary to pontine ischemic lesions (small vessel disease)...
February 2015: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Olga Waln, Joseph Jankovic
Paroxysmal dyskinesias represent a group of episodic abnormal involuntary movements manifested by recurrent attacks of dystonia, chorea, athetosis, or a combination of these disorders. Paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, paroxysmal exertion-induced dyskinesia, and paroxysmal hypnogenic dyskinesia are distinguished clinically by precipitating factors, duration and frequency of attacks, and response to medication. Primary paroxysmal dyskinesias are usually autosomal dominant genetic conditions...
February 2015: Neurologic Clinics
Ichiro Morioka, Sota Iwatani, Tsubasa Koda, Kazumoto Iijima, Hajime Nakamura
Bilirubin-induced neurologic dysfunction (BIND) is a syndrome of subtle bilirubin neurotoxic disorders. The risk for developing BIND in newborns usually increases with elevated serum/plasma concentrations of unconjugated bilirubin. This risk is further increased by disorders of bilirubin binding to albumin, which includes a reduction in serum albumin concentrations or in the bilirubin-binding capacity and affinity of albumin, and the presence of displacing substances or infection. Serum unbound bilirubin (UB) concentration may be an ideal marker that reflects changes in bilirubin binding to albumin...
November 26, 2014: Seminars in Fetal & Neonatal Medicine
Katherine A Benfer, Rachel Jordan, Sasaka Bandaranayake, Christine Finn, Robert S Ware, Roslyn N Boyd
OBJECTIVES: To compare the patterns of motor type and gross motor functional severity in preschool-aged children with cerebral palsy (CP) in Bangladesh and Australia. METHODS: We used comparison of 2 prospective studies. A total of 300 children with CP were aged 18 to 36 months, 219 Australian children (mean age, 26.6 months; 141 males) recruited through tertiary and community services, and 81 clinic-attendees born in Bangladesh (mean age, 27.5 months; 50 males)...
December 2014: Pediatrics
Wei-Chen Chuang, Chun-Yen Chen, Shin-Chang Kuo, Tien-Yu Chen, Yi-Wei Yeh
PURPOSE: A case of rapid-onset mania after initiating amisulpride in a patient with schizophrenia and cerebral disease is reported. SUMMARY: A 19-year-old Taiwanese man had a 1-year history of schizophrenia, paranoid type, and cerebral palsy. His only medication was a 12-week course of risperidone 6 mg orally daily. His positive symptoms of auditory hallucinations and paranoid delusions improved markedly, but negative symptoms of inattention, avolition, and anhedonia continued...
December 1, 2014: American Journal of Health-system Pharmacy: AJHP
Qiao Wang, Yuan Ding, Yupeng Liu, Xiyuan Li, Tongfei Wu, Jinqing Song, Yujie Wang, Yanling Yang
OBJECTIVE: To investigate the clinical, biochemical and genetic profiles of 28 Chinese patients with glutaric aciduria type 1. METHOD: Twenty-eight patients with glutaric aciduria type 1 seen in the Department of Pediatrics, Peking University First Hospital from July 2003 to October 2013 were studied. The data of clinical course, laboratory examinations, cranial MRI and GCDH gene mutations of the patients were analyzed. RESULT: (1) Three cases were detected by newborn screening, and the other patients were diagnosed at the age of 2 months to 17 years...
June 2014: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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