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Clinical case report neurology

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https://www.readbyqxmd.com/read/28649320/food-allergy-in-a-child-with-de-novo-kat6a-mutation
#1
Varpu Elenius, Tuire Lähdesmäki, Marja Hietala, Tuomas Jartti
Crying combined with miscellaneous gastrointestinal symptoms are typical symptoms of infant with food allergy, but are also common among children with abnormal neurological development. Mutations in KAT6A gene is known to cause a syndrome characterized by developmental delay, hypotonia, cardiac defects, microcephaly, specific facial features and early feeding problems. However, these feeding problems have not earlier been specified. We present the first reported case of a DBPCFC confirmed food allergy in a child with KAT6A mutation whose feeding problems resolved with elimination diet...
2017: Clinical and Translational Allergy
https://www.readbyqxmd.com/read/28648908/intraventricular-cavernomas-of-the-third-ventricle-report-of-two-cases-and-a-systematic-review-of-the-literature
#2
Vivek B Beechar, Visish M Srinivasan, Oleg E Reznik, Anish Sen, Tiemo J Klisch, Alexander E Ropper, Jacob J Mandel, Kent A Heck, Timothy J Seipel, Akash J Patel
BACKGROUND: Intraventricular cavernous malformations (IVCMs) are relatively rare benign vascular malformations. Patients may be asymptomatic or present with symptoms including headache, seizure, hemorrhage, and neurological deficits. We report two cases of patients with cavernomas in the third ventricle and at the foramen of Monro (FoM) and a systematic review of the literature to examine the clinical features and the efficacy of the current standard of care for these lesions. METHODS: A systematic review was performed according to PRISMA guidelines...
June 22, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28647654/the-clinical-features-and-surgical-outcomes-of-spinal-cord-tanycytic-ependymomas-a-report-of-40-cases
#3
Xiaogang Tao, Zonggang Hou, Shuyu Hao, Qi Zhang, Zhen Wu, Junting Zhang, Baiyun Liu
OBJECTIVE: Spinal cord tanycytic ependymomas (TEs) are rarely reported because of extremely low incidence. Understanding of this disease is therefore poor. The aim of this study was to analyze the incidence and clinical, radiological, pathological, and prognostic features of spinal cord TEs. METHODS: Approximately 4,000 spinal cord tumors were surgically resected in Beijing Tiantan Hospital between April 2009 and May 2016. We identified all cases of pathologically proved TEs among these patients...
June 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28645597/spinal-arteriovenous-malformation-associated-with-parkes-weber-syndrome-report-of-two-cases-and-literature-review
#4
Zi-Fu Li, Qiang Li, Yi Xu, Bo Hong, Qing-Hai Huang, Jian-Min Liu
OBJECTIVE: To present two cases of Parkes Weber syndrome (PWS) with spinal arteriovenous malformation(AVM), and discuss the radiological features and clinical treatment with literature review. METHODS: Clinical data on two PWS patients with spinal AVM was acquired in a prospective follow-up investigation. Clinical manifestations, radiographic features, procedural results and follow-up outcome were collected and reviewed together with literature review. RESULTS: The first patient presented with limb weakness and urinary dysfunction and the second with repetitive subarachnoid hemorrhage followed by paraplegia...
June 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28645592/enlarged-encephalo-duro-myo-synangiosis-treatment-for-moyamoya-disease-in-young-children
#5
Wenjun Shen, Bin Xu, Hao Li, Xiaofeng Gao, Yujun Liao, Wei Shi, Rui Zhao, Yi Zhang
OBJECTIVE: To retrospectively evaluate the mid-term therapeutic effect of enlarged encephalo-duro-myo-synangiosis (EDMS) for moyamoya disease (MMD) in young children. METHODS: Seventy-seven children diagnosed with MMD by digital subtraction angiography (DSA) or magnetic resonance angiography (MRA) were treated between January 2011 and December 2014 in our center. Their clinical features, imaging and operative reports were analyzed. RESULTS: Four patients presented with intracerebral hemorrhage while 73 presented with ischemic symptoms...
June 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28644688/intraosseous-administration-of-antidotes-a-systematic-review
#6
Audrée Elliott, Pierre-André Dubé, Amélie Cossette-Côté, Laura Patakfalvi, Eric Villeneuve, Martin Morris, Sophie Gosselin
CONTEXT: Intraosseous (IO) access is an established route of administration in resuscitation situations. Patients with serious poisoning presenting to the emergency department may require urgent antidote therapy. However, intravenous (IV) access is not always readily available. OBJECTIVE: This study reviews the current evidence for IO administration of antidotes that could be used in poisoning. The primary outcome was mortality as a surrogate of efficacy. Secondary outcomes included hemodynamic variables, electrocardiographic variables, neurological status, pharmacokinetics outcomes, and adverse effects as defined by each article...
June 23, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28644254/sporadic-creutzfeldt-jakob-disease-with-unilateral-symptoms-in-the-setting-of-metastatic-renal-cell-carcinoma
#7
Kyle C Rossi, Christine M Stahl, Pengfei Zhang, John W Liang, Lara V Marcuse, Fred Lublin
INTRODUCTION: Although it is not rare for magnetic resonance imaging findings in Creutzfeldt-Jakob disease to be asymmetric, unilateral clinical syndromes are uncommonly reported and may confound diagnosis. In addition, neurological paraneoplastic syndromes are not common in renal cell carcinoma, though there are cases reported, often without an offending antibody isolated. CASE REPORT: A 66-year-old man was admitted with 1 month of left-sided numbness and "loss of control" of the left arm...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28644156/clinical-case-of-the-month-a-57-year-old-man-with-an-axillary-mass
#8
Palak Desai, Andrew Myers, Brian Boulmay, Fred A Lopez
A 57-year-old man presented to the surgical oncology clinic with a mildly tender mass under his right arm. Four years prior, the patient had a melanoma removed from his right shoulder along with an ipsilateral right axillary sentinel lymph sampling. Computed tomography (CT) scan was negative for metastatic disease at that time. The patient did not undergo completion axillary node dissection and was lost to follow-up. The patient was originally from Australia, did not tan but reported multiple sunburns before age 18...
May 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28644112/susac-syndrome-misdiagnosed-as-multiple-sclerosis-with-exacerbation-by-interferon-beta-therapy
#9
Hussein Algahtani, Bader Shirah, Muhammad Amin, Eyad Altarazi, Hashem Almarzouki
Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28644064/frequent-vomiting-attacks-in-a-patient-with-lhermitte-duclos-disease-a-rare-pathophysiology-of-cerebellar-lesions
#10
Chika Somagawa, Tomonori Ono, Ryoko Honda, Hiroshi Baba, Takeshi Hiu, Ryujiro Ushijima, Keisuke Toda, Kei Sato, Masahiro Ito, Keisuke Tsutsumi
Lhermitte-Duclos disease (LDD) is a neurological disease caused by a hamartomatous lesion in the cerebellum. Clinically, LDD is commonly associated with progressive space-occupying lesion effects in the posterior fossa, increasing intracranial pressure, occlusive hydrocephalus, and focal neurological deficits of adjacent structures. The authors report the case of a 10-year-old boy with LDD who had been suffering from vomiting attacks (VAs). These VAs had been brief in duration but extremely frequent, and they had been resistant to antiemetic drugs since the early postnatal period...
June 23, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28643176/a-promising-tool-in-retina-regeneration-current-perspectives-and-challenges-when-using-mesenchymal-progenitor-stem-cells-in-veterinary-and-human-ophthalmological-applications
#11
REVIEW
Anna Cislo-Pakuluk, Krzysztof Marycz
Visual impairment is a common ailment of the current world population, with more exposure to CCD screens and fluorescent lighting, approximately 285 billion people suffer from this deficiency and 13% of those are considered clinically blind. More common causes for visual impairment include age-related macular degeneration (AMD), glaucoma and diabetic retinopathy (Zhu et al. Molecular Medicine Reports, 2015; Kolb et al. 2007; Machalińska et al. Current Eye Research, 34(9),748-760, 2009) among a few. As cases of retinal and optic nerve diseases rise, it is vital to find a treatment, which has led to investigation of the therapeutic potential of various stem cells types (Bull et al...
June 22, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28641497/a-neuropsychiatric-analysis-of-the-cotard-delusion
#12
Aradhana Sahoo, Keith A Josephs
Cotard's syndrome, a condition in which the patient denies his or her own existence or the existence of body parts, is a rare illness that has been reported in association with several neuropsychiatric diagnoses. The majority of published literature on the topic is in the form of case reports, many of which are several years old. The authors evaluated associated diagnoses, neuroimaging, and treatments recorded in patients diagnosed with Cotard's syndrome at their institution. A search of the Mayo Clinic database for patients with mention of signs and symptoms associated with Cotard's in their records between 1996 and 2016 was conducted...
June 23, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28641304/hyperemesis-gravidarum-a-review-of-recent-literature
#13
Viktoriya London, Stephanie Grube, David M Sherer, Ovadia Abulafia
BACKGROUND: In the United States, hyperemesis gravidarum is the most common cause of hospitalization during the first half of pregnancy and is second only to preterm labor for hospitalizations in pregnancy overall. In approximately 0.3-3% of pregnancies, hyperemesis gravidarum is prevalent and this percentage varies on account of different diagnostic criteria and ethnic variation in study populations. Despite extensive research in this field, the mechanism of the disease is largely unknown...
June 23, 2017: Pharmacology
https://www.readbyqxmd.com/read/28638573/acute-intermittent-porphyria-a-test-of-clinical-acumen
#14
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637445/cerebellar-mutism-syndrome-in-children-with-brain-tumours-of-the-posterior-fossa
#15
Morten Wibroe, Johan Cappelen, Charlotte Castor, Niels Clausen, Pernilla Grillner, Thora Gudrunardottir, Ramneek Gupta, Bengt Gustavsson, Mats Heyman, Stefan Holm, Atte Karppinen, Camilla Klausen, Tuula Lönnqvist, René Mathiasen, Pelle Nilsson, Karsten Nysom, Karin Persson, Olof Rask, Kjeld Schmiegelow, Astrid Sehested, Harald Thomassen, Ingrid Tonning-Olsson, Barbara Zetterqvist, Marianne Juhler
BACKGROUND: Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28635494/urea-cycle-disorder-misdiagnosed-as-multiple-sclerosis-a-case-report-and-review-of-the-literature
#16
Hussein Algahtani, Seham Alameer, Yousef Marzouk, Bader Shirah
Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis. In this paper, we report a patient who presented with neurological dysfunction and coma in the immediate postpartum period. She was misdiagnosed for many years as a case of multiple sclerosis. The importance of reporting this case is to illustrate that the wrong diagnosis of patients as being affected with multiple sclerosis for many years due to magnetic resonance imaging abnormalities rather than the classic relapsing-remitting nature of the disease may lead to catastrophic consequences...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28635420/the-most-common-comorbidities-in-dandy-walker-syndrome-patients-a-systematic-review-of-case-reports
#17
Emelina Stambolliu, Myrsini Ioakeim-Ioannidou, Kimonas Kontokostas, Maria Dakoutrou, Antonis A Kousoulis
OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1 year old (40...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28634503/monitoring-the-diagnostic-process-on-an-inpatient-neurology-service
#18
Amar Dhand, Robert Bucelli, Arun Varadhachary, Michael Tsiaklides, Gabriela de Bruin, Gurpreet Dhaliwal
The Institute of Medicine report Improving Diagnosis in Health Care called for tools to monitor physicians' diagnostic process. We addressed this need by developing a tool for clinicians to record and analyze their diagnostic process. The tool was a secure web application in which clinicians used a structured grading system to assess the relative impact of clinical, laboratory, and neuroimaging data for every new diagnosis. Four neurohospitalists used the tool for 6.5 months on a general neurology ward service at a single tertiary-level teaching hospital...
July 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28633725/well-differentiated-neuroendocrine-tumor-a-low-b-grade-tumor-s-aggressive-course-and-dismal-outcome-a-case-report
#19
Dinesh Atwal, Krishna Prasad Joshi, Susanne Jeffus, James Ntambi, Fade Mahmoud
INTRODUCTION: Incidence of well-differentiated neuroendocrine tumors (NETs) of the colon and rectum is increasing and is now approximately 1 per 100,000 in the US. NETs are either well-differentiated (indolent) or poorly differentiated (aggressive). The majority of these tumors are found incidentally during screening colonoscopies and rarely are associated with symptoms of hormonal syndrome, even during the advanced stage. Metastatic well-differentiated NETs of the colon and rectum are incurable, hard to treat, and associated with a poor prognosis and survival rates similar to colorectal adenocarcinoma survival...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28633266/complete-neurological-recovery-after-acute-total-occlusion-of-the-superior-vena-cava
#20
Yafen Liang, Clayton A Kaiser, Matthew R Danter
Superior vena cava (SVC) syndrome, characterized by swelling of the upper torso, can result from a wide range of causes. The presence and severity of clinical symptoms depends on the degree of stenosis, the location of stenosis, the speed of development of stenosis, and existing collateral flow. Acute complete occlusion of the SVC frequently leads to poor neurologic outcomes such as coma or death. We report a case of a patient who had complete neurologic recovery after 26 minutes of acute total occlusion of the SVC...
July 2017: Annals of Thoracic Surgery
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