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case study in neurology

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https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#1
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29221687/leptomeningeal-carcinomatosis-in-colorectal-cancer-the-mayo-clinic-experience
#2
Gretchen Taylor, Nina Karlin, Thorvardur R Halfdanarson, Kyle Coppola, Axel Grothey
BACKGROUND: Leptomeningeal metastasis (LM) is an uncommon form of metastatic disease in many cancers. There remains a paucity of literature with regard to the course and management of LM in colorectal cancers (CRCs). The aim of this study was to estimate the incidence of LM in patients with CRC seen at our institution over a 15-year period, and to describe the clinical course and outcome of these cases. METHODS: LM in CRC primary cases between 2000 and 2014 were identified in the Mayo Clinic databases...
November 21, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29220741/an-update-on-the-prevalence-and-incidence-of-epilepsy-among-older-adults
#3
Queeny Ip, Daniel C Malone, Jenny Chong, Robin B Harris, David M Labiner
OBJECTIVE: To estimate the prevalence and incidence of epilepsy among beneficiaries of Arizona Medicare aged 65 and over. METHODS: An analysis of Medicare administrative claims data for 2009-2011 for the State of Arizona was conducted. Epilepsy was defined as a beneficiary who had either≥one claim with diagnostic code of 345.xx (epilepsy) or at least two claims with diagnosis code of 780.3x (seizure) ≥30days apart. Stroke-related and psychiatric comorbidities were determined by diagnostic codes...
December 5, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29219779/metastases-of-spinal-myxopapillary-ependymoma-unique-characteristics-and-clinical-management
#4
Theresa Kraetzig, Lily McLaughlin, Mark H Bilsky, Ilya Laufer
OBJECTIVE Myxopapillary ependymoma is a benign WHO Grade I tumor most commonly located in the conus-cauda equina region of the spine. Although this tumor is defined by an overall excellent survival, dissemination throughout the whole neuraxis occurs frequently. The current study evaluated the clinical characteristics and significance of myxopapillary ependymoma metastases. METHODS Patients who underwent surgery from 2005 to 2015 for treatment of spinal myxopapillary ependymoma were included in the study. Charts were reviewed for primary tumor symptoms and initial treatment, local recurrence, response to salvage therapy, and presence and behavior of distant metastases...
December 8, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/29218798/high-risk-clinical-features-for-acute-aortic-dissection-a-case-control-study
#5
Robert Ohle, Justin Um, Omar Anjum, Helena Bleeker, Lindy Luo, George Wells, Jeffrey J Perry
BACKGROUND: Acute aortic dissection (AAD) is a rare condition with a high mortality that is often missed. The objective of our study was to assess the diagnostic accuracy of clinical and laboratory findings for AAD, in confirmed cases of AAD and a low risk control group. METHODS: Historical matched case-control study: participants were adults >18 years old presenting to two tertiary care emergency departments (ED) or one regional cardiac referral center. CASES: new ED or in-hospital diagnosis of non-traumatic AAD confirmed by computed tomography or echocardiography...
December 8, 2017: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/29218503/differential-alterations-in-metabolism-and-proteolysis-related-proteins-in-human-parkinson-s-disease-substantia-nigra
#6
Edna Grünblatt, Josefine Ruder, Camelia Maria Monoranu, Peter Riederer, Moussa Bh Youdim, Silvia A Mandel
Parkinson's disease is the most common neurodegenerative disorder after Alzheimer's disease, with the majority of cases being sporadic or "idiopathic". The aetiology of the sporadic form is still unknown, but there is a broad consensus that Parkinson's disease involves multiple pathways. In previous human post-mortem studies investigating substantia nigra of parkinsonian subjects, gene expression alterations in various metabolic pathways including protein folding, trafficking, aggregation, ubiquitination and oxidative stress were found...
December 7, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/29218468/prediction-of-unfavorable-outcomes-in-cryptococcal-meningitis-results-of-the-multicenter-infectious-diseases-international-research-initiative-id-iri-cryptococcal-meningitis-study
#7
I N Hakyemez, H Erdem, G Beraud, M Lurdes, A Silva-Pinto, C Alexandru, B Bishop, F Mangani, X Argemi, M Poinot, R Hasbun, M Akcaer, S Alp, T Demirdal, K Angamuthu, F Amer, E Ragab, G A Shehata, D Ozturk-Engin, N Ozgunes, L Larsen, S Zimmerli, O R Sipahi, E Tukenmez Tigen, G Celebi, N Oztoprak, A C Yardimci, Y Cag
Cryptococcal meningitis (CM) is mostly seen in immunocompromised patients, particularly human immunodeficiency virus (HIV)-positive patients, but CM may also occur in apparently immunocompetent individuals. Outcome analyses have been performed in such patients but, due to the high prevalence of HIV infection worldwide, CM patients today may be admitted to hospitals with unknown HIV status, particularly in underdeveloped countries. The objective of this multicenter study was to analyze all types of CM cases in an aggregate cohort to disclose unfavorable outcomes...
December 8, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/29218384/is-it-possible-to-give-a-single-definition-of-the-rectosigmoid-junction
#8
Damien Massalou, David Moszkowicz, Daniela Mariage, Patrick Baqué, Olivier Camuzard, Nicolas Bronsard
AIM: The rectosigmoid junction is the limit separating the sigmoid colon and rectum. This transition zone has different definitions. We want to highlight different landmarks of the rectosigmoid junction (RSJ), to help the clinicians to adopt a consensual definition. METHOD: We reviewed anatomical, endoscopic, physiological and surgical points of view concerning the rectosigmoid junction (RSJ). RESULTS: The rectosigmoid junction has a different definition depending on who is studying it...
December 7, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/29217500/peripheral-neuropathy-as-a-complication-of-diabetic-ketoacidosis-in-a-child-with-newly-diagnosed-diabetes-type-1-case-report
#9
Marta Baszyńska-Wilk, Marta Wysocka-Mincewicz, Anna Świercz, Jolanta Świderska, Magdalena Marszał, Mieczysław Szalecki
BACKGROUND: Neurological complications of diabetic ketoacidosis are considered to be very serious clinical problem. The most common complication is cerebral edema. However this group includes also less common syndromes such as ischemic or hemorrhagic stroke, cerebral venous and sinus thrombosis or very rare peripheral neuropathy. CASE REPORT: We present a case of 9-year old girl with new onset type 1 diabetes, diabetic ketoacidosis, cerebral edema, multifocal vasogenic brain lesions and lower limbs peripheral paresis...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29216502/intraventricular-hemorrhage-related-to-avm-rupture-description-outcomes-and-impact-of-intraventricular-fibrinolysis
#10
Vianney Gilard, Thomas Metayer, Clement Gakuba, Olivier Langlois, François Proust, Evelyne Emery, Thomas Gaberel
OBJECTIVES: Arteriovenous malformation (AVM) rupture could lead to intraventricular hemorrhage (IVH), a particularly severe form of intracranial bleeding. The epidemiology, presentation, management and outcomes of IVH related to AVM rupture have not been clearly addressed yet. The aim of the present study was to investigate the characteristics of IVH related to AVM rupture, with particular attention paid to functional outcomes and to the impact of intraventricular fibrinolysis (IVF). PATIENTS AND METHODS: Between 2011 and 2015, all patients suffering from IVH admitted in two tertiary neurosurgical centers were included in a prospective register...
December 4, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29214702/skin-injuries-and-joint-contractures-of-the-upper-extremities-in-rett-syndrome
#11
D Hirano, T Taniguchi
OBJECTIVES: The purpose of this study was to investigate the incidence and type of skin injuries and joint contractures of the upper extremities in individuals with Rett syndrome. METHODS: In 2016, a questionnaire regarding skin injuries and joint contractures was sent to 1016 directors of schools for special needs education and 204 directors of departments of rehabilitation [consisting of 130 facilities for persons with severe motor and intellectual disabilities (SMID), 73 wards for patients with SMID, and the National Hospital Organisation and National Centre Hospital, National Centre of Neurology and Psychiatry] in Japan...
January 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29214122/peripheral-nerve-sheath-tumors-of-the-upper-extremity-and-hand-in-patients-with-neurofibromatosis-type-1-topography-of-tumors-and-evaluation-of-surgical-treatment-in-62-patients
#12
Reinhard E Friedrich, Caroline Diekmeier
Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform neurofibromas (PNF) are detected in a high proportion of affected patients. The tumors can lead to severe disfigurement and are classified as precancerous. This study examines the surgical procedures that have been performed on large PNST of the upper limb and hand, and investigates whether a specific distribution pattern of the tumors can be detected in surgically treated cases...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/29213523/mild-cognitive-impairment-mci-and-dementia-in-a-sample-of-adults-in-the-city-of-bogot%C3%A3
#13
Olga Lucia Pedraza, Ana Maria Salazar Montes, Fabio Alexander Sierra, Maria Camila Montalvo, Yolanda Muñoz, Jose Miguel Díaz, Angela Lozano, Cesar Piñeros
The low prevalence of dementia described in communities is likely due to the low sensitivity of screening tests and an absence of evaluation by specialists. OBJECTIVE: To estimate the prevalence of mild cognitive impairment (MCI) and dementia in adults older than 50 years. METHODS: A two-phase, cross-sectional study was conducted by specialists to evaluate cognition and associated demographic risk factors in 1,235 independent community-dwelling adults from Bogotá...
July 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213515/rehabilitation-in-severe-memory-deficit-a-case-study
#14
Nariana Mattos Figueiredo Sousa
The term amnesia refers to a pathological state of mind in which memory and learning are affected to a greater extent than other cognitive functions in a patient without altered level of consciousness. The aim of the current study was to describe a case of severe amnesia in a patient during neurological rehabilitation and to report the importance of preserved cognitive functions to compensate for the mnemonic deficit. VJA presented a clinical condition suggestive of encephalopathy due to caloric-protein malnutrition following several abdominal surgical procedures for complicated choledocholithiasis...
April 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213169/clinical-profile-of-neural-tube-defects-in-sudanese-children-is-malaria-a-risk-factor
#15
Basma Sadik, Haydar E Babikir, Mohammed A R Arbab
Neural tube defects (NTDs) are one of the most common structural malformations in human kind. It is a public health problem with great impact on the child, parents and the community at large. The aim is to study the epidemiological profile and patterns of NTDs in under five-year of age Sudanese children who attended the neurosurgical clinic at the National Centre of Neurological Sciences (NCNS), Khartoum during the period from March 2014 to December 2014. This was a prospective cross-sectional study conducted at the neurosurgery clinic in NCNS, Khartoum...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#16
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29211360/cerebral-venous-thrombosis-as-a-diagnostic-challenge-clinical-and-radiological-correlation-based-on-the-retrospective-analysis-of-own-cases
#17
Anna Zimny, Edyta Dziadkowiak, Joanna Bladowska, Justyna Chojdak-Łukasiewicz, Aleksandra Loster-Niewińska, Marek Sąsiadek, Bogusław Paradowski
BACKGROUND: Cerebral venous thrombosis (CVT) is a rare condition which constitutes 0.5-1% of all strokes. The clinical and radiological picture of CVT is non-specific and can mimic other disorders. OBJECTIVES: The aim of the study was to retrospectively evaluate and correlate clinical and radiological symptoms presented by patients with CVT, both in the initial and follow-up neurological and neuroimaging examinations, with a special emphasis on diagnostic difficulties...
October 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29211243/evidence-of-hidden-leprosy-in-a-supposedly-low-endemic-area-of-brazil
#18
Fred Bernardes, Natália Aparecida de Paula, Marcel Nani Leite, Thania Loyola Cordeiro Abi-Rached, Sebastian Vernal, Moises Batista da Silva, Josafá Gonçalves Barreto, John Stewart Spencer, Marco Andrey Cipriani Frade
OBJECTIVES: Show that hidden endemic leprosy exists in a municipality of inner São Paulo state (Brazil) with active surveillance actions based on clinical and immunological evaluations. METHODS: The study sample was composed by people randomly selected by a dermatologist during medical care in the public emergency department and by active surveillance carried out during two days at a mobile clinic. All subjects received a dermato-neurological examination and blood sampling to determine anti-PGL-I antibody titers by enzyme-linked immunosorbent assay (ELISA)...
December 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/29210354/neurocysticercosis-among-people-living-nearby-pigs-heavily-infected-with-cysticercosis-in-rural-endemic-peru
#19
Brian T Garvey, Luz M Moyano, Viterbo Ayvar, Silvia Rodriguez, Robert H Gilman, Armando E Gonzalez, Hector H Garcia, Seth E O'Neal, For The Cysticercosis Working Group In Peru
Neurocysticercosis causes substantial neurologic morbidity in endemic regions around the world. In this cross-sectional study, we describe the frequency of neurocysticercosis among a presumed high-risk group of people in an endemic community in northern Peru. Participants who screened positive on a nine-question seizure survey were evaluated clinically to diagnose epilepsy using International League Against Epilepsy criteria. Those with epilepsy were offered a noncontrast computerized tomography (CT) of the head...
December 4, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29210077/estimating-verbal-fluency-and-naming-ability-from-the-test-of-premorbid-functioning-and-demographic-variables-regression-equations-derived-from-a-regional-uk-sample
#20
Toni-Marie Jenkinson, Steven Muncer, Miranda Wheeler, Don Brechin, Stephen Evans
OBJECTIVES: Neuropsychological assessment requires accurate estimation of an individual's premorbid cognitive abilities. Oral word reading tests, such as the test of premorbid functioning (TOPF), and demographic variables, such as age, sex, and level of education, provide a reasonable indication of premorbid intelligence, but their ability to predict other related cognitive abilities is less well understood. This study aimed to develop regression equations, based on the TOPF and demographic variables, to predict scores on tests of verbal fluency and naming ability...
December 6, 2017: British Journal of Clinical Psychology
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