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https://www.readbyqxmd.com/read/29644085/protein-molecular-modeling-shows-residue-t599-is-critical-to-wild-type-function-of-polg-and-description-of-a-novel-variant-associated-with-the-sando-phenotype
#1
John E Richter, Hector G Robles, Elizabeth Mauricio, Ahmed Mohammad, Paldeep S Atwal, Thomas R Caulfield
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma ( POLG ). We modeled a novel POLG variant, T599P, that causes the SANDO phenotype and another variant at the same residue, p.T599E, to observe their effect on protein function and confirm the pathogenicity of T599P. Through neoteric molecular modeling techniques, we show that changes at the T599 residue position introduce extra rigidity into the surrounding helix-loop-helix, which places steric pressure on nearby nucleotides...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29627774/acute-lower-limb-ischaemia-secondary-to-intestinal-occlusion
#2
Francois-Charles Malo, Philippe Acar, Véronique Lapie, Valérie Bédard
In general, acute lower limb ischaemia is caused by embolic, thrombotic or traumatic phenomena. Here, we describe the case of a 67-year-old woman in an emergency room setting who was initially assessed for paralysis and numbness of her lower left limb. On physical examination, the abdomen was distended and non-compressible. An abdominal AngioScan showed complete occlusion of the left iliac artery by extrinsic compression of the dilated small intestine. After a review of the literature, no case was found describing a lower limb ischaemia by extrinsic vascular compression secondary to a compartment syndrome caused by small bowel obstruction...
April 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29600211/unusual-presentation-of-spinal-gout-2-cases-report-and-literature-review
#3
Wesley Ng, Cheuk Hang Sin, Chong Hing Wong, Wing Fat Chiu, On Ming Chung
Introduction: Gouty spondyloarthropathy is generally believed to be uncommon. Together with the fact that it can mimic a variety of disease entities, it imposes significant diagnostic challenge in our clinical practice. In this article, we report two patients diagnosed with spinal gout, and both were initially suspected to have a pyogenic infection. Case Reports: The first patient, a 66-year-old man, was admitted for fever and a short history of bilateral upper limb weakness...
November 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29599656/degenerative-cervical-myelopathy-a-clinical-review
#4
REVIEW
Justin Gibson, Aria Nouri, Bryan Krueger, Nikita Lakomkin, Rani Nasser, David Gimbel, Joseph Cheng
Degenerative Cervical Myelopathy (DCM) is the most common form of spinal cord impairment in adults and results in disability and reduced quality of life. DCM can present with a wide set of clinical and imaging findings, including: 1) pain and reduced range of motion of the neck, and motor and sensory deficits on clinical exam, and 2) cord compression due to static and dynamic injury mechanisms resulting from degenerative changes of the bone, ligaments, and intervertebral discs on MRI. The incidence and prevalence of DCM has been estimated at a minimum of 4...
March 2018: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/29581892/primary-intramedullary-spinal-cord-tumour-in-pregnancy-a-case-report
#5
Kyoko Fujii, Makoto Orisaka, Makoto Yamamoto, Koji Nishijima, Yoshio Yoshida
Introduction: Primary spinal cord tumours can lead to severe neurological complications and even death. Pregnant women often complain of discomfort of the lower limbs, which is usually caused by sciatica. Here we present the case of a pregnant woman, who was initially considered to have sciatica, but was finally diagnosed with a primary intramedullary spinal cord tumour. Case presentation: A 28-year-old pregnant woman presented to our hospital with inexplicable numbness in her lower limbs...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/29560002/a-rare-case-of-eosinophilic-granulomatosis-with-polyangiitis-associated-with-cryoglobulinemia-presenting-with-a-bullous-skin-eruption-of-the-lower-limbs
#6
D D K Abeyaratne, C Liyanapathirana, C L Fonseka, P W M C S B Wijekoon
Background: Eosinophilic granulomatosis with polyangiitis (EGPA) is an antineutrophil cytoplasmic antibody- (ANCA-) associated small vessel vasculitis with multisystem involvement. It is characterized with asthma, eosinophilia, and renal and peripheral nervous system involvement. However, EGPA presenting with bullous skin eruption is an uncommon dermatological manifestation. We report a rare case of EGPA overlapped with mixed essential cryoglobulinemia presenting with a bullous skin eruption...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29548540/the-investigation-and-management-of-iliac-artery-endofibrosis-lessons-learned-from-a-case-series
#7
Lewis K Peake, Fabrizio D'Abate, John Farrah, Maria Morgan, Robert J Hinchliffe
OBJECTIVE/BACKGROUND: The objective was to summarise the lessons learned, and evolution in local practice over the last 7 years, in the investigation and surgical management of iliac artery endofibrosis. METHODS: This was a retrospective case series. A case note review of consecutive patients investigated for suspected iliac artery endofibrosis by a single surgeon, over a 7 year period, was undertaken. Included were cases of first presentation and those who had previously undergone intervention...
March 13, 2018: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29545868/diagnosis-and-management-of-spinal-tuberculosis-combined-with-brucellosis-a-case-report-and-literature-review
#8
Dexin Zou, Junlin Zhou, Xiaobing Jiang
Tuberculosis combined with brucellosis is a very rare condition. Overlapping clinical presentation and laboratory parameters of tuberculosis and brucellosis may lead to misdiagnosis or delayed diagnosis of the condition. The current study presents the case of a 45-year-old male with symptoms of lower back pain, non-tender swelling in the right flank, intermittent hyperpyrexia, sweating, body aches and numbness and weakness of right lower limb. A lumbar computed tomograph (CT) scan and magnetic resonance imaging indicated vertebral destruction and the formation of sequestra and thecal sac compression...
April 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29517664/a-case-report-of-neuromyelitis-optica-spectrum-disorder-with-peripheral-neuropathy-as-the-first-episode
#9
Lu-Mei Chi, Yu Gao, Guang-Xian Nan
RATIONALE: Neuromyelitis optica spectrum disorders (NMOSDs) represent recurrent autoimmune diseases, generally beginning with optic nerve neuritis or acute transverse myelitis. PATIENT CONCERNS: A 57-year-old male with long-term alcohol intake was hospitalized because of limb numbness. EMG examination showed the peripheral sensory nerve was in demyelination and an axonal injury was found. His symptoms could not be improved by vitamin B injection but were later significantly attenuated by dexamethasone treatment...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29505015/longitudinally-extensive-transverse-myelitis-with-pulmonary-tuberculosis-two-case-reports
#10
Yu Zhang, Mingqin Zhu, Lifang Wang, Miao Shi, Hui Deng
RATIONALE: Longitudinally extensive transverse myelitis (LETM) is characterized by contiguous inflammatory lesions of spinal cord extending to ≥3 vertebral segments. The etiology of LETM is complicated, including various infection, autoimmune disease, and so on. Neuromyelitis optic spectrum disorder (NMOSD) is the most common cause of LETM. Several case reports have suggested the associations between NMOSD and pulmonary tuberculosis (PTB). PATIENT CONCERNS: Patient 1, a 20-year-old woman who had a past history of PTB, presented with weakness, numbness, and pain in the limbs...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29489680/miller-fisher-syndrome-complicated-by-bickerstaff-brainstem-encephalitis-a-case-report
#11
Chaoyang Jing, Zhuo Wang, Chaojia Chu, Ming Dong, Weihong Lin
RATIONALE: Bickerstaff brainstem encephalitis (BBE) and Miller-Fisher syndrome (MFS) might be a pedigree disease. Herein, we report a rare case that fits the diagnoses of both MFS and BBE. PATIENT CONCERNS: A 48-year-old woman was hospitalized due to blurred vision and unsteady gait lasting for 9 days, and numbness of the limbs lasting for 6 days. Physical examination showed restricted eye movement without nystagmus, bilateral flattening of forehead and nasolabial folds, and positive eyelash sign...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29480881/cheiro-oral-syndrome-caused-by-thalamus-hemorrhage-a-case-report
#12
Yen-Hung Wu, Kuan-Ting Liu, I-Jeng Yeh, Chia-Wen Chang
RATIONALE: Cheiro-Oral syndrome (COS) is a pure sensory deficit confined to the perioral area and ipsilateral distal fingers or hand. Owing to relatively minor clinical findings and various presentations in different cases, the insidious and severe illness it implies may be overlooked at acute settings. PATIENT CONCERNS: A 70-year-old man with history of hypertension and type II diabetes mellitus under regular medication control came to our emergency department with chief complaint of sudden onset of right perioral region and right upper limb numbness...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29476997/a-novel-anterior-revision-surgery-for-the-treatment-of-cervical-ossification-of-posterior-longitudinal-ligament-case-report-and-review-of-the-literature
#13
Jinhao Miao, Jingchuan Sun, Jiangang Shi, Yu Chen, Deyu Chen
PURPOSE: A 62-year-old blind man with severe ossification of posterior longitudinal ligament was presented. The patient received posterior laminectomy and fixation. After surgery, the patient was not satisfied with the recovery of upper limbs although the JOA score increased from 9 to 12 points. Because the tactile sensation of his hands is especially important to his daily life, the patient asked for further treatment after 6 months. The paper is to report the novel revision surgery we invented and the outcome of the patient after the novel surgery...
February 21, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29424157/-clinical-observation-of-5-cases-of-diabetes-insipidus-complicated-with-skeletal-fluorosis
#14
Shuan-Chi Wang, Xiao-Bing Tao, Fang-Fang Wang, Nan Zhang
OBJECTIVE: To investigate the mechanism of diabetes insipidus complicated with skeletal fluorosis and the surgical treatment of spinal canal stenosis caused by skeletal fluorosis. METHODS: From January 2000 to November 2011, 5 patients with diabetes insipidus complicated with skeletal fluorosis were treated with drug and cervical or thoracic posterior decompression including 2 males and 3 females with age of 35, 45, 47, 49, 55 years old respectively. The symptoms was mainly limb motor sensory disturbance accompanied by polyuria and polyuria...
July 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29390464/vascular-spinal-cord-obstruction-associated-with-superior-vena-cava-syndrome-a-case-report-and-literature-review
#15
Xiaoling Zhang, Xinyuan Li, Meihong Meng, Jie Cao, Xiaonan Song, Kangding Liu, Shaokuan Fang
RATIONALE: Superior vena cava syndrome (SVCS) is the obstruction of blood flow through the SVC, causing complete or partial blockade of the collateral circulation of returning venous blood. SVCS is frequently presented with facial, neck, trunk, and upper limbs swelling and so on. However, to the best of our knowledge, the obstruction of the venous return in the spinal veins is rarely a manifestation of SVCS. PATIENT CONCERNS: We presented a rare case of a 52-year-old male patient with 2-month history of progressive right upper limb numbness and swelling and 10-day history of extremities malfunctioning...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29382028/intraoperative-conversion-of-artificial-cervical-disc-replacement-to-anterior-cervical-discectomy-and-fusion-for-iatrogenic-fracture-a-rare-case-report
#16
Bei-Yu Wang, Ting-Kui Wu, Hao Liu, Yu-Xiao Deng, Chen Ding
RATIONALE: Artificial cervical disc replacement (ACDR) has been reported to be an effective and safe surgical treatment for cervical spondylosis. However, iatrogenic fracture during ACDR surgery has rarely been reported. Considering its infrequency, we report a rare clinical case, with the aim of sharing our experience and exploring when to convert ACDR to fusion intraoperatively. PATIENTS CONCERNS: A 47-year-old woman felt neck pain with weakness and numbness in both upper limbs for 5 months...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29367379/rare-presentation-of-aica-syndrome
#17
Syed H Shabbir, Faryal Nadeem, Daniel Labovitz
We report a rare presentation of an anterior inferior cerebellar artery (AICA) infarct in a 74-year-old woman with acute-onset nausea, vomiting, vertigo and gait instability long before the full onset of symptoms and a negative MRI on admission. Over the next several days the patient developed left facial weakness, numbness, hypoacusis, and limb and gait ataxia, and was found to have acute infarcts of the left pons and cerebellar peduncle consistent with an AICA syndrome. We discuss this rare stepwise presentation in AICA syndrome and possible underlying pathophysiology...
January 23, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29325948/spinal-metastasis-resulting-from-atypical-thymic-carcinoid-a-case-report
#18
Xinjie Wu, Yingna Qi, Feng Yang, Mingsheng Tan, Jie Lin
BACKGROUND: Thymic carcinoid with spinal metastasis is an extremely rare entity. Clinically, the tumor presents either by its endocrine manifestations or by mechanical compression of surrounding structures. However, no previously published case studies have reported neck pain and neurologic deficit in the initial presentation of an atypical thymic carcinoid. CASE DESCRIPTION: A 56-year-old man, a nonsmoker, presented with a 12-month history of intermittent neck pain and a 1-month history of progressive numbness and weakness of the right upper limb...
March 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29323631/endovascular-treatment-with-tirofiban-during-the-acute-stage-of-cervical-spinal-cord-infarction-due-to-vertebral-artery-dissection
#19
Yuanling Wu, Wenxian Li, Xiaomei Xie, Zhen Jing, Weibiao Lu, Li'an Huang
CONTEXT: Cervical spinal cord infarction is a rare and severe complication of vertebral artery dissection (VAD). We report a case of VAD in an acute stage followed by cervical spinal cord infarction that was treated using direct endovascular tirofiban infusion via digital subtraction angiography (DSA) monitoring. FINDINGS: A 48-year-old man presented with vertigo, neck pain, numbness and weakness in four limbs with subsequent cardiac and respiratory arrest. Neurological examination revealed hypoesthesia below the neck with grade one myodynamia on the right side of the limbs and zero on the left side...
January 11, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29279594/poems-syndrome
#20
W W T Nyunt, R Remli, F A Abdul Muttlib, C F Leong, N Masir, N R Tumian, S F S Abdul Wahid
POEMS syndrome is the syndrome of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and typical Skin changes. A 65-year-old lady presented with the 2-day-history of inability to walk, 4-month-history of progressive worsening of muscle weakness of both lower limbs and 1-year-history of progressive worsening of bilateral numbness of lower limbs. Nerve conduction study revealed generalized sensorimotor demyelinating polyneuropathy. She was initially treated as chronic inflammatory demyelinating polyradiculoneuropathy with intravenous immunoglobulin (IVIG) and high-dose prednisolone...
December 2017: Malaysian Journal of Pathology
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