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https://www.readbyqxmd.com/read/29042004/quantitative-functional-mri-and-neurophysiological-markers-in-a-case-of-gerstmann-str%C3%A3-ussler-scheinker-syndrome
#1
Silvia Marino, Rosa Morabito, S De Salvo, L Bonanno, A Bramanti, P Pollicino, R Giorgianni, Placido Bramanti
Gerstmann-Sträussler-Scheinker syndrome (GSS) is an inherited autosomal dominant prion disease, caused by a codon 102 proline to leucine substitution (P102L) in the prion protein gene (PRNP). We describe the case of a 40-year-old male, affected by a slowly progressive gait disturbance, leg weakness and cognitive impairment. Genomic DNA revealed a point mutation of PRNP at codon 102, resulting in P102L, and the diagnosis of GSS was confirmed. Somatosensory evoked potentials showed alterations of principal parameters, particularly in the right upper and lower limbs...
July 2017: Functional Neurology
https://www.readbyqxmd.com/read/29033382/clinical-pathological-correlations-in-three-patients-with-fibrodysplasia-ossificans-progressiva
#2
Kelly L Wentworth, Katherine Bigay, Tea V Chan, Jennifer P Ho, Blanca M Morales, Joseph Connor, Erin Brooks, M Shahriar Salamat, Henry Charles Sanchez, Geoffrey Wool, Robert J Pignolo, Frederick S Kaplan, Edward C Hsiao
OBJECTIVE: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder in which heterotopic bone forms in the soft tissues. This often occurs in response to injury or inflammation, leading to joint immobilization and significant disability. There are currently no definitive treatment options for this devastating disease. Although the most dramatic phenotype in FOP is the episodic and progressive heterotopic ossification, patients report a number of symptoms that affect other organ systems...
October 12, 2017: Bone
https://www.readbyqxmd.com/read/29027038/rescue-of-outer-hair-cells-with-antisense-oligonucleotides-in-usher-mice-is-dependent-on-age-of-treatment
#3
Abhilash Ponnath, Frederic F Depreux, Francine M Jodelka, Frank Rigo, Hamilton E Farris, Michelle L Hastings, Jennifer J Lentz
The absence of functional outer hair cells is a component of several forms of hereditary hearing impairment, including Usher syndrome, the most common cause of concurrent hearing and vision loss. Antisense oligonucleotide (ASO) treatment of mice with the human Usher mutation, Ush1c c.216G>A, corrects gene expression and significantly improves hearing, as measured by auditory-evoked brainstem responses (ABRs), as well as inner and outer hair cell (IHC and OHC) bundle morphology. However, it is not clear whether the improvement in hearing achieved by ASO treatment involves the functional rescue of outer hair cells...
October 12, 2017: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/29026366/trigeminal-trophic-syndrome-associated-with-the-use-of-synthetic-marijuana
#4
Fawad A Khan, Rinu Manacheril, Robin Ulep, Julie E Martin, Anil Chimakurthy
BACKGROUND: Trigeminal trophic syndrome (TTS) is an uncommon disorder of the trigeminal nerve tract and trigeminal brainstem nucleus. The syndrome is characterized by a triad of unilateral crescentic ulcers with anesthesia and paresthesias of the involved trigeminal dermatomes. CASE REPORT: A 24-year-old right-handed black female presented to our emergency department with a 4-week history of rapidly progressive painless desquamation/denudation of skin over her right face and scalp...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29022157/radiosurgery-in-trochlear-and-abducens-nerve-schwannomas-case-series-and-systematic-review
#5
Iulia Peciu-Florianu, Constantin Tuleasca, Jean-Nicolas Comps, Luis Schiappacasse, Michele Zeverino, Roy Thomas Daniel, Marc Levivier
INTRODUCTION: Schwannomas involving the occulomotor cranial nerves  (CNs; III, IV and VI), can be disabling, due to the associated diplopia and decreased quality of life and are extremely rare. We evaluated the role of Gamma Knife surgery (GKS) in these cases. METHODS: Five patients with CN IV and VI schwannomas (three and two, respectively) were treated in Lausanne University Hospital between 2010 and 2015. Four benefitted from upfront GKS and one from a combined approach (planned subtotal resection followed by GKS), due to a large preoperative tumour volume (size, 3 × 2 × 2...
October 11, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29021956/grey-and-white-matter-differences-in-chronic-fatigue-syndrome-a-voxel-based-morphometry-study
#6
Andreas Finkelmeyer, Jiabao He, Laura Maclachlan, Stuart Watson, Peter Gallagher, Julia L Newton, Andrew M Blamire
OBJECTIVE: Investigate global and regional grey and white matter volumes in patients with Chronic Fatigue Syndrome (CFS) using magnetic resonance imaging (MRI) and recent voxel-based morphometry (VBM) methods. METHODS: Forty-two patients with CFS and thirty healthy volunteers were scanned on a 3-Tesla MRI scanner. Anatomical MRI scans were segmented, normalized and submitted to a VBM analysis using randomisation methods. Group differences were identified in overall segment volumes and voxel-wise in spatially normalized grey matter (GM) and white matter (WM) segments...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28979169/severe-neuropsychiatric-systemic-lupus-erythematosus-successfully-treated-with-rituximab-an-alternative-to-standard-of-care
#7
Elisabetta Chessa, Matteo Piga, Alberto Floris, Alessandro Mathieu, Alberto Cauli
Demyelinating syndrome secondary to systemic lupus erythematosus (DS-SLE) is a rare encephalomyelitis burden with a high risk of disability and death. We report on a 49-year-old Caucasian woman with systemic lupus erythematosus (SLE) complicated by severe cognitive dysfunction, brainstem disease, cranial nerve palsies, weakness and numbness in limbs and multiple discrete magnetic resonance imaging (MRI) areas of damage within the white matter of semioval centers, temporal lobe, external capsule, claustrum, subinsular regions and midbrain...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28977137/dorsal-brainstem-syndrome-and-the-use-of-neurally-adjusted-ventilatory-assist-nava-in-an-infant
#8
José Colleti, Walter Koga, Werther Brunow de Carvalho
OBJECTIVE: To report a rare case of dorsal brainstem syndrome in an infant after hypoxic-ischemic episode due to severe sepsis and the use of neurally adjusted ventilatory assist (NAVA) to aid in diagnosis and in the removal of mechanical ventilation. CASE DESCRIPTION: A 2-month-old male infant, previously healthy, presented with severe sepsis that evolved to dorsal brainstem syndrome, which usually occurs after hypoxic-ischemic injury in neonates and infants, and is related to very specific magnetic resonance images...
September 21, 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28958731/brainstem-infarction-associated-with-hhv-6-infection-in-an-infant
#9
Aya Wada, Kazuhiro Muramatsu, Yasuo Sunaga, Takahisa Mizuno, Mariko Takei, Satoshi Ogasawara, Miho Uchida, Kiwako Tsukida, Masahiko Tashiro
INTRODUCTION: The relevant literature includes several case reports on cerebral infarction in children with HHV-6 infection; however, there is no report of brain stem infarction. CASE: An 11-month-old girl was hospitalized because of fever. She was unable to stand up and meet her mother's gaze. Magnetic resonance imaging (MRI) indicated a right pons and mid-brain lesion; a diagnosis of brainstem infarction was made. After her fever subsided, a rash developed on her trunk and limbs; blood examination results indicated a primary HHV-6 infection...
September 25, 2017: Brain & Development
https://www.readbyqxmd.com/read/28951832/advancing-functional-dysconnectivity-and-atrophy-in-progressive-supranuclear-palsy
#10
Jesse A Brown, Alice Y Hua, Andrew Trujllo, Suneth Attygalle, Richard J Binney, Salvatore Spina, Suzee E Lee, Joel H Kramer, Bruce L Miller, Howard J Rosen, Adam L Boxer, William W Seeley
Progressive supranuclear palsy syndrome (PSP-S) results from neurodegeneration within a network of brainstem, subcortical, frontal and parietal cortical brain regions. It is unclear how network dysfunction progresses and relates to longitudinal atrophy and clinical decline. In this study, we evaluated patients with PSP-S (n = 12) and healthy control subjects (n = 20) at baseline and 6 months later. Subjects underwent structural MRI and task-free functional MRI (tf-fMRI) scans and clinical evaluations at both time points...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28942483/the-pathophysiology-of-the-trigeminal-autonomic-cephalalgias-with-clinical-implications
#11
REVIEW
Mads C J Barloese
The hallmark of primary headaches belonging to the group known as the trigeminal autonomic cephalalgias is unilateral headache accompanied by cranial autonomic symptoms. Being relatively rare and poorly understood, they represent a clinical challenge, leading to underdiagnosis and undertreatment. While the headache is the most obvious and disabling symptom, it is only part of a complex symptomatology which hints at the involved pathophysiological mechanisms. Activation of the trigeminal-autonomic reflex results in the aforementioned cranial autonomic symptoms, which are well understood; however, it is obvious that this brainstem reflex is regulated by higher centers that seemingly play a pivotal role in the attacks and the wide range of other symptoms indicating a homeostatic disturbance...
September 23, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28934520/damage-of-inner-ear-sensory-hair-cells-via-mitochondrial-loss-in-a-murine-model-of-sleep-apnea-with-chronic-intermittent-hypoxia
#12
Young Joon Seo, Hyun Mi Ju, Sun Hee Lee, Sang Hyun Kwak, Min Jung Kang, Joo-Heon Yoon, Chang-Hoon Kim, Hyung-Ju Cho
Study Objectives: Investigating the exact pathophysiology of obstructive sleep apnea syndrome (OSAS)-induced hearing loss is critical. We sought to verify the hypothesis that a correlation exists between mitochondrial dysfunction in inner ear hair cells and the auditory dysfunction induced by chronic intermittent hypoxia (CIH) in a murine model of sleep apnea. Methods: C57BL/6J adult male mice were randomized to 4 weeks of CIH (n = 12) or normoxia (Sham) (n = 12)...
September 1, 2017: Sleep
https://www.readbyqxmd.com/read/28931890/pathogenesis-of-lethal-aspiration-pneumonia-in-mecp2-null-mouse-model-for-rett-syndrome
#13
Hiroshi Kida, Tomoyuki Takahashi, Yuki Nakamura, Takashi Kinoshita, Munetsugu Hara, Masaki Okamoto, Satoko Okayama, Keiichiro Nakamura, Ken-Ichiro Kosai, Takayuki Taniwaki, Yushiro Yamashita, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2), located on the X chromosome. Many RTT patients have breathing abnormalities, such as apnea and breathing irregularity, and respiratory infection is the most common cause of death in these individuals. Previous studies showed that MeCP2 is highly expressed in the lung, but its role in pulmonary function remains unknown. In this study, we found that MeCP2 deficiency affects pulmonary gene expression and structures...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931039/abnormalities-in-substance-p-neurokinin-1-receptor-binding-in-key-brainstem-nuclei-in-sudden-infant-death-syndrome-related-to-prematurity-and-sex
#14
Fiona M Bright, Robert Vink, Roger W Byard, Jhodie R Duncan, Henry F Krous, David S Paterson
Sudden infant death syndrome (SIDS) involves failure of arousal to potentially life threatening events, including hypoxia, during sleep. While neuronal dysfunction and abnormalities in neurotransmitter systems within the medulla oblongata have been implicated, the specific pathways associated with autonomic and cardiorespiratory failure are unknown. The neuropeptide substance P (SP) and its tachykinin neurokinin-1 receptor (NK1R) have been shown to play an integral role in the modulation of homeostatic function in the medulla, including regulation of respiratory rhythm generation, integration of cardiovascular control, and modulation of the baroreceptor reflex and mediation of the chemoreceptor reflex in response to hypoxia...
2017: PloS One
https://www.readbyqxmd.com/read/28926645/alterations-in-regional-homogeneity-of-resting-state-cerebral-activity-in-patients-with-chronic-prostatitis-chronic-pelvic-pain-syndrome
#15
Yusong Lin, Yan Bai, Peng Liu, Xuejuan Yang, Wei Qin, Jianqin Gu, Degang Ding, Jie Tian, Meiyun Wang
The purpose of this study was to explore the neural mechanism in Chronic prostatitis/Chronic pelvic pain syndrome (CP/CPPS) using resting-state functional magnetic resonance imaging. The functional magnetic resonance imaging was performed on 31 male CP/CPPS-patients and 31 age and education matched male healthy controls on a 3-T magnetic resonance imaging unit. A two-sample t-test was adopted to reveal the regional homogeneity between the patients and healthy controls. The mean regional homogeneity values in the alerted brain regions of patients were correlated with the clinical measurements by using Pearson's correlation analyses...
2017: PloS One
https://www.readbyqxmd.com/read/28922849/medullary-serotonin-neuron-abnormalities-in-an-australian-cohort-of-sudden-infant-death-syndrome
#16
Fiona M Bright, Roger W Byard, Robert Vink, David S Paterson
Serotonin (5-hydroxytryptamine [5-HT]) neurons in the medulla oblongata project extensively to key autonomic and respiratory nuclei in the brainstem and spinal cord regulating critical homeostatic functions. Multiple abnormalities in markers of 5-HT function in the medulla in sudden infant death syndrome (SIDS) have been reported, informing the hypothesis that at least a subset of SIDS cases is caused by deficits in 5-HT function resulting in impaired homeostatic responses to potentially life-threatening events during sleep...
October 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28905844/metastatic-renal-cell-carcinoma-presenting-as-one-and-a-half-syndrome
#17
Mukesh Patil, Anita Ganger, Sanjay Sharma, Rohit Saxena
We report a case of 43-year-old male, presented with sudden onset binocular diplopia on lateral gazes. Ocular examination showed features of ipsilateral one-and-a-half syndrome. Comprehensive systemic work in conjunction with magnetic resonance imaging of the brain illustrated irregular mixed solid and cystic lesions in the brainstem, possibly indicative of brain metastases. Further imaging revealed hidden renal cell carcinoma as a primary neoplasm, which led to secondary manifestations.
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28905216/slowly-progressing-varicella-zoster-brainstem-encephalitis-complicating-ramsay-hunt-syndrome-in-an-immunocompetent-patient-case-report-and-review-of-the-literature
#18
Vito A G Ricigliano, Lorenzo Saraceno, Michele Cavalli, Mariaemma Rodegher, Giovanni Meola
A 56-year-old immunocompetent male developed brainstem encephalitis complicating Ramsay Hunt syndrome. The disease had a slowly progressing course of months after the triggering infection, much longer than previously reported. Furthermore, magnetic resonance imaging, physical-chemical, and cell count analyses on cerebrospinal fluid were normal, whereas polymerase chain reaction for varicella zoster virus DNA was positive. The simultaneous negativity of both imaging and basic CSF exams is very rare, although possible event which confirms the irreplaceable role of viral screening on CSF...
September 13, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28899886/brainstem-encephalitis-and-acute-polyneuropathy-associated-with-hepatitis-e-infection
#19
Omar Jabbar Salim, Amy Davidson, Kathy Li, John Paul Leach, Craig Heath
A 59-year-old man presented with feverish illness. His Glasgow Coma Scale was 15, had reduced visual acuity in the left eye with partial left ptosis and mild left hemiparesis with an extensor left plantar. Over 48 hours, he accrued multiple cranial nerves palsies and progressed to a flaccid paralysis necessitating admission to an intensive care unit.Cerebrospinal fluid (CSF) study showed 20 lymphocytes and raised protein. Viral and bacterial PCRs were negative. Samples for Lyme, blood-borne viruses, syphilis and autoantibodies were also negative...
September 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28899286/restless-legs-syndrome-related-to-hemorrhage-of-a-thoracic-spinal-cord-cavernoma
#20
Malik Hamdaoui, Elisabeth Ruppert, Henri Comtet, Ulker Kilic-Huck, Valérie Wolff, Marc Bataillard, Patrice Bourgin
CONTEXT: Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move the lower limbs often accompanied by unpleasant sensations in the legs, worsened at rest and in the evening. Symptoms are improved by movement. Its pathophysiology remains poorly understood. Lesion-related RLS has been reported, mainly in cases of stroke-related RLS involving the brainstem and lenticulostriate nuclei. Only few data of RLS in a context of spinal cord injury have been reported...
September 12, 2017: Journal of Spinal Cord Medicine
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