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https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#1
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#2
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#3
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28297693/-a-case-of-central-type-disc-herniation-at-the-c7-t1-level-presenting-with-myelopathy
#4
Masatoshi Yunoki, Takahiro Kanda, Kenta Suzuki, Atsuhito Uneda, Koji Hirashita, Kimihiro Yoshino
In contrast to other levels of upper disc spaces, the Luschka joints are usually absent at the C7/T1 disc space. Therefore, it has been reported that the C7/T1 disc herniation is prone to herniate laterally rather than centrally. In this manuscript, we describe an extremely rare central-type disc herniation at the C7/T1 level presented with myelopathy. A 76-year-old man presented with a 20-day history of progressive gait disturbance. Physical examination revealed bilateral lower extremity hyperreflexia and mild foot numbness with no upper extremity motor weakness or sensory disturbance...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28258180/rare-case-of-severe-serotonin-syndrome-leading-to-bilateral-compartment-syndrome
#5
Verena Clarissa Samara, Judith Warner
The term 'serotonin syndrome' describes a constellation of symptoms caused by serotonergic overstimulation. Its characteristic clinical presentation consists of encephalopathy, neuromuscular signs and autonomic hyperactivity. After removal of the offending agent, the clinical course is usually self-limited but can occasionally lead to severe symptoms. We report the case of a 68-year-old woman who presented emergently with encephalopathy. Home medications included paroxetine and dextroamphetamine/amphetamine...
March 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28255305/xeroderma-pigmentosum-with-severe-neurological-manifestations-de-sanctis-cacchione-syndrome-and-a-novel-xpc-mutation
#6
Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada
Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28235814/differentiating-cognitive-impairment-due-to-corticobasal-degeneration-and-alzheimer-disease
#7
Gregory S Day, Tae Sung Lim, Jason Hassenstab, Alison M Goate, Elizabeth A Grant, Catherine M Roe, Nigel J Cairns, John C Morris
OBJECTIVE: To identify clinical features that reliably differentiate individuals with cognitive impairment due to corticobasal degeneration (CBD) and Alzheimer disease (AD). METHODS: Clinical features were compared between individuals with autopsy-proven CBD (n = 17) and AD (n = 16). All individuals presented with prominent cognitive complaints and were evaluated annually with semistructured interviews, detailed neurologic examinations, and neuropsychological testing...
March 28, 2017: Neurology
https://www.readbyqxmd.com/read/28226077/superficial-siderosis-of-the-central-nervous-system-is-a-rare-and-possibly-underdiagnosed-disorder
#8
Yara Dadalti Fragoso, Tarso Adoni, Joseph Bruno Bidin Brooks, Sidney Gomes, Marcus Vinicius Magno Goncalves, Cassio Lemos Jovem, Andre Palma da Cunha Matta, Joao Filipe Oliveira, Fabio Siquinelli, Carlos Bernardo Tauil, Guilherme Navarro Troiani, Paulo Roberto Wille
Methods: Series of cases collected from Brazilian centers. Results: We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion: SS-CNS is a rare disease that may remain undiagnosed for long periods...
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28168342/spinal-rosai-dorfman-disease-case-report-and-literature-review
#9
Haocheng Xu, Fan Zhang, Feizhou Lu, Jianyuan Jiang
OBJECTIVE: Sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman disease (RDD) is a rare benign disease of dubious etiology that arises predominantly in lymph nodes with generalized fever and malaise. Isolated intraspinal involvement has its unique characteristics. The purpose of this study is to present the largest series of cases in the spinal Rosai-Dorfman disease literature to increase familiarity with its clinicopathologic features, diagnosis, and treatment of RDD from spine...
February 6, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28162871/a-young-female-with-urinary-retention-a-case-report-of-hashimoto-s-encephalopathy
#10
Benjamin L Cooper, Shane E Appel, Hussam M Ammar
Hashimoto's Encephalopathy (HE) is a rare form of autoimmune encephalopathy associated with Hashimoto's thyroiditis in which patients experience cognitive impairment and various neurologic symptoms. We present a case of a young female that presented to the emergency department with urinary retention, and was ultimately diagnosed with HE. Examination was significant for direction-changing and vertical nystagmus (direction-changing nystagmus describes a phenomenon where the fast beat changes with the direction of gaze), hyperreflexia, clonus, and Babinski and Hoffman's reflexes (all upper motor neuron (UMN) signs)...
January 26, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28141723/anxiety-associated-with-asthma-exacerbations-and-overuse-of-medication-the-role-of-cultural-competency
#11
Yousuke T Horikawa, Tina Y Udaka, Janet K Crow, John I Takayama, Martin T Stein
Toshi, a 14-year-old Japanese boy, had uncontrolled asthma after relocating from Japan with his family 1 year ago. In Japan, he was diagnosed with moderate, persistent asthma, which was controlled with salmeterol and albuterol on an as needed basis. Since moving to the United States, Toshi complained of frequent dyspnea.Initially, he was seen by a Japanese physician who prescribed 200 mg of fluticasone 3 times a day and albuterol nebulization as needed. When Toshi came to the Pediatric Primary Care Clinic, he reported using his nebulizer up to 25 times daily...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28120582/diagnostic-clue-of-meningeal-melanocytoma-case-report-and-review-of-literature
#12
REVIEW
Jae Koo Lee, Young Joon Rho, Dong Mun Jeong, Seung Chul Rhim, Sang Joon Kim
In this report, the patient was pre-diagnosed as meningioma before surgery, which turned out to be meningeal melanocytoma. Hence, we will discuss the interpretation of imaging and neurological statuses that may help avoid this problem. A 45-year-old man had increasing pain around the neck 14 months prior to admission. His cervical spine MR imaging revealed a space-occupying, contrast-enhancing mass within the dura at the level of C1. The neurologic examination revealed that the patient had left-sided lower extremity weakness of 4+, decreased sensation on the right side, and hyperreflexia in both legs...
March 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28025023/correlation-between-preoperative-physical-signs-and-functional-outcomes-after-laminoplasty-for-ossification-of-the-posterior-longitudinal-ligament
#13
Takashi Tsuji, Nobuyuki Fujita, Kota Watanabe, Masaya Nakamura, Morio Matsumoto, Ken Ishii
BACKGROUND: Ossification of the posterior longitudinal ligament (OPLL) can cause myelopathy that is often managed surgically. Knowledge of predictors of surgical outcomes can provide decision support to surgeons. The aims of this study were to investigate the relationships between preoperative physical signs and postoperative functional outcomes in patients with OPLL and to clarify whether physical signs could predict functional outcomes. METHODS: Fifty-five patients with OPLL who had undergone cervical laminoplasty were included in this study...
December 23, 2016: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/27999131/melanoderma-uncommon-presentation-of-a-common-condition
#14
Priyadarshini Gunaseelan, Sarveswari Narasingarajan, Shriraam Mahadevan
A 64-year-old man presented with blackish pigmentation of skin and tongue for more than 2 years that did not improve with local remedies. He had no history of comorbid medical or surgical illnesses. General examination showed severe hyperpigmentation of skin and mucosa and also showed anaemia. Systemic examination was unremarkable except for Romberg sign and mild hyperreflexia. Adrenal insufficiency was ruled out by normal cortisol levels and haemogram showed macrocytosis with hypersegmented neutrophils suggestive of severe vitamin B12 deficiency which confirmed by low serum B12 levels...
December 20, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27928380/facial-dystonia-with-facial-grimacing-and-vertical-gaze-palsy-with-round-the-houses-sign-in-a-29-year-old-woman
#15
J Crespi, G Bråthen, P Quist-Paulsen, J Pagonabarraga, C Roig-Arnall
A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27915967/liver-transplant-can-resolve-severe-neuropsychiatric-manifestations-of-wilson-disease-a-case-report
#16
Gregory Walker, Trana Hussaini, Robert Stowe, Silke Cresswell, Eric M Yoshida
Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait...
December 2, 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27891403/efficacy-of-transcutaneous-electrical-nerve-stimulation-in-the-treatment-of-overactive-bladder
#17
Nidhi Sharma, Kaja Rekha, Krishnamurthy Jayashree Srinivasan
INTRODUCTION: Overactive Bladder (OAB) accounts for 40-70% cases of incontinence. The etiology is unknown though detrusor instability is found in urodynamic evaluation of almost all cases. Detrusor instability or hyperreflexia can be inhibited by direct inhibition of impulses in the pre-ganglionic afferent neuron or by inhibition of bladder pre-ganglionic neurons of the efferent limb of micturition reflex. Transcutaneous Electrical Nerve Stimulation (TENS) is based on the gate control theory of abolishing the local micturition reflex arc...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27854092/nitrous-oxide-induced-subacute-combined-degeneration-presenting-with-dystonia-and-pseudoathetosis-a-case-report
#18
Hung-Ju Chen, Chih-Shan Huang
PURPOSE: Nitrous oxide (N2O) is neurotoxic by interfering with vitamin B12 bioavailability. The clinical picture is indistinguishable to that of subacute combined degeneration (SCD). A movement disorder might occur though it is not a characteristic feature. We report a patient with N2O-induced SCD, exhibiting a combination of different involuntary movements. CASE REPORT: A 20-year-old woman presented with one month of progressive unsteady gait, involuntary movements and tingling sensation in a stocking-glove distribution...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27792117/use-of-central-motor-conduction-time-and-spinal-cord-evoked-potentials-in-the-electrophysiological-assessment-of-compressive-cervical-myelopathy
#19
Kazuhiro Fujimoto, Tsukasa Kanchiku, Yasuaki Imajo, Hidenori Suzuki, Masahiro Funaba, Norihiro Nishida, Toshihiko Taguchi
STUDY DESIGN: Retrospective study. OBJECTIVE: This study investigated the pathophysiology of compressive cervical myelopathy (CCM) with prolonged central motor conduction time (CMCT) in the upper limbs (UL) rather than lower limbs (LL) and prolonged CMCT at the thoracic level (TL). SUMMARY OF BACKGROUND DATA: Earlier reports indicated the usefulness of CMCT to assess preoperative CCM severity. However little information exists on patients with prolonged CMCT-UL rather than CMCT-LL and prolonged CMCT-TL...
October 25, 2016: Spine
https://www.readbyqxmd.com/read/27761272/clinical-heterogeneity-of-guillain-barr%C3%A3-syndrome-in-the-emergency-department-impact-on-clinical-outcome
#20
Athanasios Papathanasiou, Ioannis Markakis
Guillain-Barré syndrome (GBS) is mainly classified into acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). Although diagnosis of GBS requires progressive weakness and universal areflexia or hyporeflexia, cases of GBS with preserved or increased deep tendon reflexes (DTRs) have been increasingly recognized. We report three cases of GBS, presenting at a single unit in six months. Our first case presented with pure sensory symptoms. The second case had nonspecific generalized weakness, while the third presented with typical ascending weakness...
2016: Case Reports in Emergency Medicine
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