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https://www.readbyqxmd.com/read/28324264/reverse-locked-in-syndrome
#1
Pooja Raibagkar, Ram V Chavali, Tamara B Kaplan, Jennifer A Kim, Meaghan V Nitka, Sherry H-Y Chou, Brian L Edlow
BACKGROUND: Basilar artery occlusion can cause locked-in syndrome, which is characterized by quadriplegia, anarthria, and limited communication via eye movements. Here, we describe an uncommon stroke syndrome associated with endovascular recanalization of the top of the basilar artery: "reverse locked-in syndrome." METHODS: We report the case of a patient with atypical neurological deficits caused by acute ischemic stroke of the midbrain tegmentum. We perform neuroanatomic localization of the patient's infarcts by mapping the magnetic resonance imaging (MRI) data onto a brainstem atlas...
March 21, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28320194/acquired-pendular-nystagmus
#2
REVIEW
Sarah Kang, Aasef G Shaikh
Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320172/neuropathological-findings-from-an-autopsied-case-showing-posterior-reversible-encephalopathy-syndrome-like-neuroradiological-findings-associated-with-premedication-including-tacrolimus-for-autologous-peripheral-blood-stem-cell-transplantation
#3
Yuichi Hayashi, Akio Kimura, Hiroshi Nakamura, Maya Mimuro, Yasushi Iwasaki, Akira Hara, Mari Yoshida, Takashi Inuzuka
Posterior reversible encephalopathy syndrome (PRES) is diagnosed based on neuroradiological findings. Typically, PRES is reversible and presents with a good outcome; however, fatal outcomes have been reported. We report an autopsied case showing PRES-like neuroradiological findings associated with premedication including tacrolimus for autologous peripheral blood stem cell transplantation in a 28-year-old woman with a 2-year history of acute myeloid sarcoma/acute myeloid leukemia. Neurological examination revealed disturbed consciousness, muscle weakness in all extremities, and bilaterally diminished tendon reflexes...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320169/probable-zika-virus-associated-guillain-barr%C3%A3-syndrome-challenges-with-clinico-laboratory-diagnosis
#4
Eliza Miller, Zoe Becker, Daniel Shalev, Christopher T Lee, Comana Cioroiu, Kiran Thakur
A 55year old woman in New York City presented in May 2016 with progressive weakness, ataxia, paresthesia, and areflexia, shortly after returning from the Dominican Republic. Lumbar puncture revealed cytoalbuminological dissociation. Due to her recent travel, Zika-associated Guillain Barré syndrome (GBS) was suspected and she underwent evaluation for recent flavivirus exposure. Zika virus RNA was not detected in serum, but Zika virus immunoglobulin M (IgM) was detected in both serum and cerebrospinal fluid...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320147/malignancy-in-guillain-barr%C3%A3-syndrome-a-twelve-year-single-center-study
#5
Fu Liong Hiew, Yusuf A Rajabally
The relationship between Guillain-Barré syndrome (GBS) and malignancy is uncertain. We retrospectively analyzed data of 118 consecutive patients admitted with GBS from Birmingham, U.K. (2001-2012). We calculated relative cancer risk using different definitions and determined characteristics of malignancy-associated GBS. Malignancy was globally commoner in our GBS cohort compared to the general population (odds ratio: 2.08; CI: 1.06-3.71; p=0.036). However, this was unconfirmed if paraneoplastic criteria were applied...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320115/reversible-cerebral-vasoconstriction-syndrome-in-puerperium-a-prospective-study
#6
Gian Paolo Anzola, Renato Brighenti, Milena Cobelli, Alessia Giossi, Sara Mazzucco, Silvia Olivato, Elisa Pari, Maria Paola Piras, Alessandro Padovani, Fabrizio Rinaldi, Giulia Turri
BACKGROUND AND AIM OF THE STUDY: Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by severe "thunderclap" headache, with or without associated neurological symptoms and neuroimaging findings of reversible vasoconstriction of cerebral arteries. Puerperium is a recognized precipitant, but the incidence of puerperal RCVS is unknown. We conducted a prospective study to assess incidence, risk factors and clinical features of RCVS. MATERIAL AND METHOD: Nine-hundred consecutive puerperae were prospectively enrolled within three days of delivery...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319210/oculo-dento-digital-dysplasia-oddd-due-to-a-gja1-mutation-report-of-a-case-with-emphasis-on-dental-manifestations
#7
Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George A Tanteles, Maria A Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1...
March 20, 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28318729/acute-cerebellitis-in-paediatric-patients-our-experience
#8
J P García-Iñiguez, F J López-Pisón, P Madurga Revilla, I Montejo Gañán, M Domínguez Cajal, L Monge Galindo, S B Sánchez Marco, M C García Jiménez
INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression...
March 15, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#9
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28315624/extrapontine-myelinolysis-manifested-selectively-by-acute-severe-parkinsonian-syndrome-case-report
#10
(no author information available yet)
OBJECTIVES: Osmotic demyelination syndrome (ODMS) is a rare and serious neurologic disorder with acute myelin disintegration, usually in the pontine area (central pontine myelinolysis) and to a lesser extent, even in other areas of the central nervous system (extrapontine myelinolysis). The main underlying mechanism is the change of serum osmolality with quick correction of low mineral levels, mainly hyponatraemia. Clinical manifestation is various and depends on the localization. DESIGN: We describe an acute isolated extrapontine myelinolysis causing acute onset of parkinsonism in a 61-year-old man who developed quickly progressing parkinsonian syndrome after the rapid correction of hyponatraemia...
November 19, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28314977/isolated-vestibular-syndromes-due-to-brainstem-and-cerebellar-lesions
#11
Sung-Hee Kim, Hyo Jung Kim, Ji-Soo Kim
Dizziness/vertigo is the most common symptoms of posterior circulation strokes. Isolated vestibular symptoms and signs without other neurologic deficits have been found in infarctions involving the brainstem and cerebellum. In the brainstem, infarctions responsible for isolated vestibular syndrome are usually restricted to the dorsal portion that contains the vestibular nucleus and the nucleus prepositus hypoglossi. Cerebellar lesions confined to the flocculus, tonsil, and nodulus also produce isolated vertigo and imbalance...
March 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28314918/oculomotor-prismatic-training-is-effective-in-ameliorating-spatial-neglect-a-pilot-study
#12
I Ronga, M Franza, P Sarasso, M Neppi-Modona
Visuomotor prismatic training has been demonstrated to be among the most effective rehabilitative techniques of spatial neglect, a neurological syndrome manifested by a number of right brain-damaged patients characterized by unawareness of the egocentric left half of the world. In the present study, we demonstrate that a novel oculomotor prismatic training procedure only consisting in a sequence of gaze shifts to visual targets, can reduce spatial neglect symptoms. Following oculomotor prismatic training, patients show a significant decrease in neglect severity in straight ahead and paper and pencil tasks...
March 17, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28314518/the-interface-between-chronic-fatigue-syndrome-and-depression-a-psychobiological-and-neurophysiological-conundrum
#13
Derek Larkin, Colin R Martin
The chronic fatigue syndrome (CFS) remains a contentious and controversial presentation despite decades of systematic research from a variety of medical specialties and associated disciplines. Variously championed as a condition of immunological, neurological, neurophysiological, psychiatric or psychological origin, consensus on a cogent and evidenced-based pathway has yet to be achieved. Irrespective of the ambiguity regarding aetiology, what is incontrovertible is the experience of significant depression, which often accompanies this most distressing clinical presentation...
March 14, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28306573/redefining-progressive-encephalomyelitis-with-rigidity-and-myoclonus-after-the-discovery-of-antibodies-to-glycine-receptors
#14
Sarah J Crisp, Bettina Balint, Angela Vincent
PURPOSE OF REVIEW: This review highlights the recent discovery of antibodies to glycine receptor (GlyR-Ab) and discusses the relationship between these antibodies and neurological disorders. RECENT FINDINGS: Since the initial description in 2008 of antibodies to glycine receptors (GlyR-Abs) in a patient with progressive encephalomyelitis with rigidity and myoclonus (PERM), these antibodies have been found in PERM and in some patients with a variety of stiff person spectrum (SPS) or related disorders...
March 16, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28306571/cns-syndromes-associated-with-antibodies-against-metabotropic-receptors
#15
Eric Lancaster
PURPOSE OF REVIEW: Autoantibodies to Central nervous system (CNS) metabotropic receptors are associated with a growing family of autoimmune brain diseases, including encephalitis, basal ganglia encephalitis, Ophelia syndrome, and cerebellitis. The purpose of this review is to summarize the state of knowledge regarding the target receptors, the neurological autoimmune disorders, and the pathogenic mechanisms. RECENT FINDINGS: Antibodies to the γ-aminobutyric acid B receptor are associate with limbic encephalitis and severe seizures, often with small cell lung cancers...
March 16, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28303733/bi-parametric-magnetic-resonance-imaging-applied-to-obstetrics
#16
Lucia Manganaro, Valeria Vinci, Antonella Giancotti, Sandro Gerli, Denis A Cozzi, Teresa Pusiol, Michele Scialpi, Luca Roncati
Foetal magnetic resonance imaging (MRI) plays an increasingly important role in the diagnosis of foetal abnormalities. Over the years, we have successfully applied bi-parametric MRI (bp-MRI) to the following obstetric conditions: (1) neurologic vascular diseases; (2) assessment of lung parenchyma maturation; (3) renal pathologies, such as polycystic kidney, suspected renal infarction, unilateral or bilateral renal agenesis; (4) placental pathologies, as twin-twin transfusion syndrome or placenta accreta; (5) benignant and malignant congenital tumours or cysts of the liver, such as haemangioendothelioma, hepatoblastoma or metastatic neuroblastoma, of the kidney (e...
March 17, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28303559/-thoracic-outlet-syndrome
#17
Sven Seifert, Pavel Sebesta, Marian Klenske, Mirko Esche
Introduction Thoracic outlet syndrome (TOS) is one of the most extensively discussed diagnoses. There is neither a clear and homogenous clinical presentation nor an accepted definition. The term describes a complex of symptoms and complaints caused by the compression of nerves and vascular structures at one of the three defined constrictions of the upper thoracic aperture. Methods Based on a comprehensive literature review, this article presents the etiology, epidemiology and clinical diagnostics as well as the possibilities and outcomes of surgical treatment...
February 2017: Zentralblatt Für Chirurgie
https://www.readbyqxmd.com/read/28302762/brain-fdg-pet-metabolic-abnormalities-in-macrophagic-myofasciitis-are-they-stable
#18
Paul Blanc-Durand, Axel Van Der Gucht, Mehdi Aoun Sebaiti, Mukedaisi Abulizi, Francois-Jérome Authier, Emmanuel Itti
We address this letter in addition to our recent published study (1). The aim is to add some insight to the evolution of the brain abnormalities that are observed with macrophagic myofasciitis (MMF). MMF is a chronic disease whom evolution is slow and symptoms first may occurs from months to year after a vaccination containing aluminium hydroxid adjuvants (2). Nevertheless, its evolution is not fully understood or known. MMF associated cognitive dysfunction (MACD) is based on a tripod combining dysexecutive syndrom, visual memory impairment and interhemispheric disconnection...
March 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28302064/a-sibship-with-duplication-of-xq28-inherited-from-the-mother-genomic-characterization-and-clinical-outcomes
#19
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283)...
March 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28301076/clinical-development-of-anti-cd19-chimeric-antigen-receptor-t-cell-therapy-for-b-cell-non-hodgkin-lymphoma
#20
Shinichi Makita, Kiyoshi Yoshimura, Kensei Tobinai
B-cell non-Hodgkin lymphoma (B-NHL) is the most frequent hematological malignancy. Although refined chemotherapy regimens and several new therapeutics including rituximab, a chimeric anti-CD20 monoclonal antibody, have improved its prognosis in recent decades, there are still a substantial number of patients with chemorefractory B-NHL. Anti-CD19 chimeric antigen receptor (CAR) T-cell therapy is expected to be an effective adoptive cell treatment and has the potential to overcome the chemorefractoriness of B-cell leukemia and lymphoma...
March 16, 2017: Cancer Science
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