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case report neurology

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https://www.readbyqxmd.com/read/29666731/ischemic-stroke-in-an-hiv-positive-patient-an-initial-presentation-of-neurosyphilis
#1
Kalimullah Jan, Rebecca Hoe Hui Min, Tan Seow Yen, Shekhawat Ravindra Singh
Ischemic stroke occurring in patients with human immunodeficiency virus (HIV) needs to be approached with a vast differential diagnosis in mind. We report a case of middle-aged male patient with immune reconstituted HIV on therapy without known cardiovascular risk factors who had a right middle cerebral artery territory infarct. After a thorough evaluation, he received a final diagnosis of neurosyphilis-associated vasculitis leading to stroke. He recovered without any neurological deficits following treatment with intravenous benzylpenicillin...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29666711/creutzfeldt-jakob-disease-presenting-as-expressive-aphasia-and-nonconvulsive-status-epilepticus
#2
Hafiz B Mahboob, Kazi H Kaokaf, Jeremy M Gonda
Creutzfeldt-Jakob disease (CJD), the most common form of human prion diseases, is a fatal condition with a mortality rate reaching 85% within one year of clinical presentation. CJD is characterized by rapidly progressive neurological deterioration in combination with typical electroencephalography (EEG) and magnetic resonance imaging (MRI) findings and positive cerebrospinal spinal fluid (CSF) analysis for 14-3-3 proteins. Unfortunately, CJD can have atypical clinical and radiological presentation in approximately 10% of cases, thus making the diagnosis often challenging...
2018: Case Reports in Critical Care
https://www.readbyqxmd.com/read/29666219/symptoms-at-lung-cancer-diagnosis-are-associated-with-major-differences-in-prognosis
#3
Victoria L Athey, Stephen J Walters, Trevor K Rogers
We report a cohort study of survival of patients with lung cancer presenting to a single multidisciplinary team between 1997 and 2011, according to symptoms at presentation. The overall median survival of the 3800 lung cases was 183 days (95% CI 171 to 195). There was a statistically significant difference in survival between the 12 symptom groups identified both without and with adjustment for the prognostic variables of age, gender and histology (P<0.001). Compared with the cough-alone symptom group, the risks of dying or HRs were significantly higher for the groups presenting with breathlessness (HR 1...
April 17, 2018: Thorax
https://www.readbyqxmd.com/read/29665426/human-papillomavirus-vaccine-and-demyelinating-diseases-a-systematic-review-and-meta-analysis
#4
Julie Mouchet, Francesco Salvo, Emanuel Raschi, Elisabetta Poluzzi, Ippazio Cosimo Antonazzo, Fabrizio De Ponti, Bernard Bégaud
BACKGROUND: Approved in 2006, human papillomavirus (HPV) vaccines were initially targeted for girls aged 9-14 years. Although the safety of these vaccines has been monitored through post-licensure surveillance programmes, cases of neurological events have been reported worldwide. PURPOSE: The present study aimed to assess the risk of developing demyelination after HPV immunization by meta-analysing risk estimates from pharmacoepidemiologic studies. DATA SOURCES: A systematic review was conducted in Medline, Embase, ISI Web of Science and the Cochrane Library from inception to 10 May 2017, without language restriction...
April 14, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29664508/oral-self-mutilation-in-lesch-nyhan-syndrome-case-report
#5
Andrés Campolo González, Alex Vargas Díaz, Daniel Fontboté Riesco, Marta Hernández Chávez
INTRODUCTION: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions. OBJECTIVE: To present a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29663900/congenital-toxoplasmosis-in-tunisia-prenatal-and-neonatal-diagnosis-and-postnatal-follow-up-of-35-cases
#6
Boudaouara Yosr, Aoun Karim, Maatoug Rania, Souissi Olfa, Bouratbine Aïda, Ben Abdallah Rym
Congenital toxoplasmosis (CT) results from transplacental passage of Toxoplasma gondii to the fetus during acute maternal infection. Our study aims to report clinical and biological patterns of 35 cases of CT diagnosed at the department of the Parasitology of the Pasteur Institute of Tunis and to access the performance of prenatal and early postnatal diagnosis techniques. Serological screening of maternal infection was performed by Immunoglobulin (Ig) M and IgG detection and IgG avidity determination. Prenatal diagnosis was based on both Toxoplasma DNA detection in the amniotic fluid and monthly ultrasound examinations...
April 16, 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29663869/the-effect-of-self-assessed-fatigue-and-subjective-cognitive-impairment-on-work-capacity-the-case-of-multiple-sclerosis
#7
Gisela Kobelt, Dawn Langdon, Linus Jönsson
OBJECTIVES: The impact of physical disability in multiple sclerosis on employment is well documented but the effect of neurological symptoms has been less well studied. We investigated the independent effect of self-reported fatigue and cognitive difficulties on work. METHODS: In a large European cost of illness survey, self-reported fatigue, subjective cognitive impairment (SCI), and productivity at work were assessed with visual analogue scales (VAS 0-10). The analysis controlled for country, age, age at diagnosis, gender, education, and physical disability...
April 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29663074/detection-of-pro-apoptotic-bax%C3%A2-2-proteins-in-the-human-cerebellum
#8
Adriana Mañas, Aislinn Davis, Sydney Lamerand, Jialing Xiang
Bax∆2 is a pro-apoptotic protein originally discovered in colon cancer patients with high microsatellite instability. Unlike most pro-apoptotic Bax family members, Bax∆2 mediates cell death through a non-mitochondrial caspase 8-dependent pathway. In the scope of analyzing the distribution of Bax∆2 expression in human tissues, we examined a panel of human brain samples. Here, we report four cerebellar cases in which the subjects had no neurological disorder or disease documented. We found Bax∆2 positive cells scattered in all areas of the cerebellum, but most strikingly concentrated in Purkinje cell bodies and dendrites...
April 17, 2018: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/29662730/myelopathy-improvement-following-removal-of-cervical-sublaminar-wiring
#9
Hurtis J Tullos, Robert G Briggs, Andrew K Conner, Allison E Williams, John B Maxwell, Michael D Martin
Posterior cervical wiring has been used by spine surgeons in fixation procedures for patients with spinal instability. It is historically considered an effective method of treating cervical instability with a low risk of complications leading to neurological deterioration. We experienced a case of delayed neurological decline associated with myelopathy, lower extremity spasticity, and associated syringomyelia secondary to instrumentation failure and resultant sublaminar wire protrusion into the cervical spinal cord...
February 14, 2018: Curēus
https://www.readbyqxmd.com/read/29662725/multiple-cranial-neuropathies-in-a-patient-with-diffuse-large-b-cell-lymphoma-case-report-and-review-of-literature
#10
Nakul Katyal, Anant Wadhwa, Pradeep C Bollu
Neuropathies can occur in patients with diffuse large B-cell lymphoma (DLBCL) at any stage of the disease as a presenting symptom or during later stages of illness. A wide spectrum of neurological association is known to occur with DLBCL, ranging from cranial nerve palsies to peripheral neuropathies. Evaluation of cranial and peripheral neuropathies in patients with DLBCL requires meticulous clinical, imaging, and electrodiagnostic testing. A 75-year-old right-handed female with a known history of multiple cranial neuropathies and DLBCL presented with acute dysphagia and upper extremity weakness of one-week duration...
February 13, 2018: Curēus
https://www.readbyqxmd.com/read/29662290/extra-intestinal-manifestations-of-non-celiac-gluten-sensitivity-an-expanding-paradigm
#11
REVIEW
Giuseppe Losurdo, Mariabeatrice Principi, Andrea Iannone, Annacinzia Amoruso, Enzo Ierardi, Alfredo Di Leo, Michele Barone
Non celiac gluten sensitivity (NCGS) is a syndrome characterized by a cohort of symptoms related to the ingestion of gluten-containing food in subjects who are not affected by celiac disease (CD) or wheat allergy. The possibility of systemic manifestations in this condition has been suggested by some reports. In most cases they are characterized by vague symptoms such as 'foggy mind', headache, fatigue, joint and muscle pain, leg or arm numbness even if more specific complaints have been described. NCGS has an immune-related background...
April 14, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29661457/progressive-multifocal-leukoencephalopathy-following-combined-rituximab-based-immune-chemotherapy-for-post-transplant-lymphoproliferative-disorder-in-a-renal-transplant-recipient-a-case-report
#12
M Windpessl, S Burgstaller, A Kronbichler, H Pieringer, O Kalev, A Karrer, M Wallner, J Thaler
BACKGROUND: Transplant recipients are at risk of developing progressive multifocal leukoencephalopathy (PML), an opportunistic infection due to reactivation of JC virus. Post-transplant lymphoproliferative disorders (PTLDs) represent a common malignancy in this population, and antiCD20-therapy has become an established component of its treatment. CASE PRESENTATION: We describe the first case of a renal allograft transplant recipient with PTLD who received rituximab-based immune-chemotherapy and developed PML shortly thereafter...
April 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29661453/late-onset-post-transplantation-central-nervous-system-lymphoproliferative-disorder-case-report
#13
J Rego Silva, R A Macau, H Oliveira Coelho, F Camelo, P Cruz, A Mateus, A Oliveira, C Oliveira, A Ramos
Post-transplantation lymphoproliferative disorder (PTLD) is a heterogeneous group of conditions that complicate organ transplantation and are due to immunosuppression. Central nervous system (CNS)-PTLD is rare but its incidence is increasing. It often occurs late and is associated with kidney transplantation and Epstein-Barr virus (EBV) infection. Outcomes are poor. We present the case of a 77-year-old white male who received a cadaveric kidney transplant in 2003. Maintenance immunosuppression consisted of mycofenolate mofetil (MMF), cyclosporine, and prednisolone...
April 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29660028/reoperation-for-medulloblastoma-prior-to-adjuvant-therapy
#14
Prayash Patel, David Wallace, Frederick A Boop, Brandy Vaughn, Giles W Robinson, Amar Gajjar, Paul Klimo
BACKGROUND: Surgery remains an integral part of the treatment of medulloblastoma. We present our experience with repeat surgery for this tumor before initiation of adjuvant therapy. OBJECTIVE: To report what was found intraoperatively and where at time of second-look surgery and detail any postoperative events or readmissions within 90 days of surgery. METHODS: Two separate institutional databases were queried to identify patients who underwent repeat resection of suspected residual medulloblastoma from January 2003 to January 2017...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29659200/atypical-tuberous-sclerosis-complex-presenting-as-familial-renal-cell-carcinoma-with-leiomyomatous-stroma
#15
Ismaël Bah, Somayyeh Fahiminiya, Louis R Bégin, Nancy Hamel, Maria Daniela D'Agostino, Simon Tanguay, William D Foulkes
We report an atypical tuberous sclerosis complex phenotype presenting as familial multiple renal cell carcinomas with (angio)leiomyomatous stroma (5/7 familial renal cell carcinomas) on a background of multiple angiomyolipomas, hypopigmented skin macules and absence of neurological anomalies. In the index case and 3 relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic variant [c.2714 G>A, (p.Arg905Gln)], a rare TSC-associated alteration which has previously been associated with a milder TSC phenotype...
April 16, 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29657732/two-cases-of-spontaneous-cervical-epidural-hematoma-without-back-or-neck-pain-in-elderly-japanese-men
#16
Takashi Hongo, Kenichi Iseda, Midori Tsuchiya, Mototaka Inaba, Satoshi Nozaki, Kenji Takahashi, Masaaki Nakajima, Toshifumi Fujiwara
Cases: Spontaneous spinal epidural hematoma (SSEH) is an uncommon disease. Most SSEH cases involve back and/or neck pain. We report the cases of two men who experienced SSEH with dysstasia but without back or neck pain. Outcomes: This study presents two cases involving elderly Japanese men who visited an emergency department because of sudden dysstasia without back or neck pain. The results of the neurological examinations revealed ataxic gait. Cervical spinal epidural hematomas were observed by computed tomography and magnetic resonance imaging...
April 2018: Acute Medicine & Surgery
https://www.readbyqxmd.com/read/29657181/a-personal-narrative-on-living-and-dealing-with-psychiatric-symptoms-after-dbs-surgery
#17
Frédéricand Gilbert, John Noel Viaña
Although deep brain stimulation (DBS) may result in dramatic motor improvement in people with Parkinson's disease (PD), it has been correlated with a number of postoperative psychiatric side effects. We report a case of a person with PD experiencing depression and hypomania following DBS surgery. We provide a detailed report of the patient's personal experiences dealing with and managing these psychiatric side effects for three years. Providing a personal narrative focusing on detailed patient subjective experiences complements reports that give insight into the short- and long-term effects of DBS on established psychiatric measures and neurologic activity...
2018: Narrative Inquiry in Bioethics
https://www.readbyqxmd.com/read/29657082/horner-s-syndrome-following-obstetric-neuraxial-blockade-a-systematic-review-of-the-literature
#18
D J Chambers, K Bhatia
Horner's syndrome is a rarely reported complication of neuraxial blockade. In obstetric practice, the neurological signs of Horner's syndrome may cause anxiety amongst patients and healthcare staff, but more importantly may herald the onset of maternal hypotension. Medline, CINAHL, and EMBASE databases were searched to identify cases of Horner's syndrome following obstetric neuraxial blockade. Anaesthetic technique, clinical features, anaesthetic management of the Horner's syndrome and time to resolution were assessed...
March 17, 2018: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#19
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29656294/gray-matter-heterotopia-mental-retardation-developmental-delay-microcephaly-and-facial-dysmorphisms-in-a-boy-with-ring-chromosome-6-a-10-year-follow-up-and-literature-review
#20
Shu Liu, Zhiqing Wang, Sisi Wei, Jinqun Liang, Nuan Chen, Haimei OuYang, Weihong Zeng, Liying Chen, Xunjie Xie, Jianhui Jiang
Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2...
April 14, 2018: Cytogenetic and Genome Research
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