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https://www.readbyqxmd.com/read/29339535/functional-changes-of-ampa-responses-in-human-induced-pluripotent-stem-cell-derived-neural-progenitors-in-fragile-x-syndrome
#1
Venkat Swaroop Achuta, Tommi Möykkynen, Ulla-Kaisa Peteri, Giorgio Turconi, Claudio Rivera, Kari Keinänen, Maija L Castrén
Altered neuronal network formation and function involving dysregulated excitatory and inhibitory circuits are associated with fragile X syndrome (FXS). We examined functional maturation of the excitatory transmission system in FXS by investigating the response of FXS patient-derived neural progenitor cells to the glutamate analog (AMPA). Neural progenitors derived from induced pluripotent stem cell (iPSC) lines generated from boys with FXS had augmented intracellular Ca2+ responses to AMPA and kainate that were mediated by Ca2+-permeable AMPA receptors (CP-AMPARs) lacking the GluA2 subunit...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29315514/cytotoxic-edema-at-onset-in-west-syndrome-of-unknown-etiology-a-longitudinal-diffusion-tensor-imaging-study
#2
Chikako Ogawa, Hiroyuki Kidokoro, Tatsuya Fukasawa, Hiroyuki Yamamoto, Naoko Ishihara, Yuji Ito, Yoko Sakaguchi, Yu Okai, Atsuko Ohno, Tomohiko Nakata, Yoshiteru Azuma, Ayako Hattori, Tetsuo Kubota, Takeshi Tsuji, Akihiro Hirakawa, Hisashi Kawai, Jun Natsume
OBJECTIVE: To clarify longitudinal changes in white matter microstructures from the onset of disease in patients with West syndrome (WS) of unknown etiology. METHODS: Diffusion tensor imaging (DTI) was prospectively performed at onset and at 12 and 24 months old in 17 children with WS of unknown etiology. DTI was analyzed using tract-based spatial statistics (TBSS) and tract-specific analysis (TSA) of 13 fiber tracts, and fractional anisotropy (FA) and mean diffusivity (MD) were compared with those of 42 age-matched controls...
January 8, 2018: Epilepsia
https://www.readbyqxmd.com/read/29280178/relationship-between-cavum-septi-pellucidi-measurements-and-fetal-hypoplastic-left-heart-syndrome-or-dextro-transposition-of-the-great-arteries
#3
Michael Saadeh, Yili Zhao, Hadiza Galadima, Rabih Chaoui, Elena Sinkovskaya, Alfred Abuhamad
OBJECTIVES: The aim of this study was to compare the size and position of the cavum septi pellucidi (CSP) in fetuses with hypoplastic left heart syndrome (HLHS) or dextro-transposition of the great arteries (d-TGA) with healthy fetuses. METHODS: The CSP length, CSP width, and frontal lobe length were measured in 185 healthy fetuses (404 scans), 11 fetuses with HLHS (16 scans), and 11 fetuses with d-TGA (12 scans) between January 2005 and April 2016. Each measurement was compared between healthy fetuses and those with HLHS or d-TGA, controlling for the biparietal diameter...
December 27, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29258840/sleep-related-hypermotor-syndrome-an-arousal-parasomnia-or-nocturnal-frontal-lobe-epilepsy
#4
EDITORIAL
Sudhansu Chokroverty
No abstract text is available yet for this article.
September 21, 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29237665/intermittent-catatonia-and-complex-automatisms-caused-by-frontal-lobe-epilepsy-in-dementia
#5
Robynne George, Alex Langford
An 82-year-old man was admitted to the emergency department following bizarre behaviour. Police had noticed him driving erratically through his village. He did not stop when instructed, drove slowly home and appeared 'vacant' on questioning. While in hospital, he had approximately 15 episodes of catatonia, involving rigidity, negativism, mutism except echolalia and perseveration, automatic obedience and utilisation phenomena, lasting 2-20 min each. Between episodes, he was amnestic but otherwise well. Electroencephalography demonstrated bifrontal slowing with left-sided emphasis, and captured two focal onset partial seizures with the clinical correlate of the syndrome described above...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29229431/altered-neurocognitive-processing-of-tactile-stimuli-in-patients-with-complex-regional-pain-syndrome-crps
#6
Anoop Kuttikat, Valdas Noreika, Srivas Chennu, Nicholas Shenker, Tristan Bekinschtein, Christopher A Brown
Chronic pain in CRPS has been linked to tactile misperceptions and deficits in somatotopic representation of the affected limb. Here, we identify altered cognitive processing of tactile stimuli in CRPS patients that we propose marks heterogeneity in tactile decision-making mechanisms. In a case-control design, we compared middle and late-latency somatosensory-evoked potentials (SEPs) in response to pseudo-randomised mechanical stimulation of the digits of both hands (including CRPS-affected and non-affected sides) between 13 CRPS patients and 13 matched healthy controls...
December 8, 2017: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29228180/longitudinal-structural-and-molecular-neuroimaging-in-agrammatic-primary-progressive-aphasia
#7
Katerina A Tetzloff, Joseph R Duffy, Heather M Clark, Edythe A Strand, Mary M Machulda, Christopher G Schwarz, Matthew L Senjem, Robert I Reid, Anthony J Spychalla, Nirubol Tosakulwong, Val J Lowe, Clifford R Jack, Keith A Josephs, Jennifer L Whitwell
The agrammatic variant of primary progressive aphasia affects normal grammatical language production, often occurs with apraxia of speech, and is associated with left frontal abnormalities on cross-sectional neuroimaging studies. We aimed to perform a detailed assessment of longitudinal change on structural and molecular neuroimaging to provide a complete picture of neurodegeneration in these patients, and to determine how patterns of progression compare to patients with isolated apraxia of speech (primary progressive apraxia of speech)...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29213045/-an-effect-of-epilepsy-on-sleep-structure
#8
S G Khachatryan, Yu S Tunyan
In this review, the authors discuss the problem of management of the patient with epilepsy with regard an impact of epileptic seizures and syndromes on sleep structure. Sleep disorders can lead to worsening of seizure control and general medical condition of the patients. However, seizures themselves and types of epilepsy can affect the sleep architecture. One of the most frequent symptoms of disordered sleep in epilepsy patients is excessive daytime sleepiness, which can be a consequence of poor sleep quality due to frequent nocturnal seizures or excessive interictal epileptiform activity during sleep leading to frequent arousals...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29209885/neuroimaging-findings-associated-with-congenital-zika-virus-syndrome-case-series-at-the-time-of-first-epidemic-outbreak-in-pernambuco-state-brazil
#9
Pedro Pires, Patricia Jungmann, Jully Moura Galvão, Adriano Hazin, Luiza Menezes, Ricardo Ximenes, Gabriele Tonni, Edward Araujo Júnior
PURPOSE: This study aimed to describe the prenatal and postnatal neuroimaging and clinical findings in a clinical series following congenital Zika virus syndrome during the first epidemic Zika virus (ZIKV) outbreak in the State of Pernambuco, Brazil. METHODS: We (the authors) conducted a retrospective study of a prospectively collected case series of fetuses and neonates with microcephaly born to mothers with presumed/confirmed congenital ZIKV syndrome. Prenatal ultrasound findings were reviewed to identify potential central nervous system (CNS) abnormalities...
December 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29201855/posterior-reversible-encephalopathy-syndrome-after-head-trauma-surgery-in-pediatric-patient-without-any-underlying-disease
#10
Jae Eon Yoon, Cheol Young Lee, Hyun Woo Kim
Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder characterized by signs of posterior cerebral edema upon radiographic examination. A 16-year-old girl was involved in motorcycle accident and depressed frontal fracture was presented. She had generalized seizures 3 days after dural repair and fracture reduction. Signal changes was noted on both parietal lobes in the magnetic resonance images and it was completely resolved in 3 months follow-up. We would like to present the case that demonstrated PRES related hypertension after head trauma surgery for cerebrospinal fluid leakage in pediatric patient without any underlying disease...
October 2017: Korean Journal of Neurotrauma
https://www.readbyqxmd.com/read/29192947/-executive-functions-in-frontal-lob-syndrome-a-case-report
#11
Özge Metin, Ali Evren Tufan, Nagihan Cevher Binici, Özge Saraçlı, Adnan Atalay, Ayşegül Yolga Tahiroğlu
Prefrontal cortex in frontal lobe (FL) is the center of executive functions (EF). FL damage can lead to executive dysfunction by influencing frontal-subcortical circuits (dorsolateral, orbitofrontal, ventromedial). Damage to the dorsolateral prefrontal cortex (DLPFC) can lead to deterioration in EF, whereas damage to the orbitofrontal cortex (OFC) can lead to personality changes with the characteristic of disinhibition and irritability. In addition, damage to the anterior cingulate cortex/medial prefrontal cortex (ACC/MPFC) can result in decreased spontaneity...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/29179101/the-cinderella-syndrome-a-narrative-study-of-social-curfews-and-lifestyle-restrictions-in-juvenile-myoclonic-epilepsy
#12
Teresa Leahy, Michael J Hennessy, Timothy J Counihan
Several factors are thought to contribute to inadequate seizure control in patients with juvenile myoclonic epilepsy (JME), including drug resistance, neuropsychiatric comorbidity, and poor lifestyle choices. Recent evidence supports the existence of frontal lobe microstructural deficits and behavioral changes that may contribute to poor seizure control in a minority of patients. Counseling patients on the importance of adequate sleep hygiene and alcohol restriction is an important part of the management strategy for patients with JME...
November 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29169617/primary-histiocytic-sarcoma-of-the-brain-in-an-african-hedgehog-atelerix-albiventris
#13
Kikumi Ogihara, Kaoru Suzuki, Hiroo Madarame
A 2.5-year-old African hedgehog (Atelerix albiventris) with signs of progressive paresis/paralysis for approximately 6 months was diagnosed with 'wobbly hedgehog syndrome' (WHS). Post-mortem examination revealed a primary central nervous system (CNS) histiocytic sarcoma (HS) associated with neurodegenerative changes of the CNS and skeletal muscle atrophy. Grossly, a spherical mass infiltrated the left forebrain and was located between the frontal lobe and thalamus in coronal sections. Microscopically, the neoplastic cells had eccentrically located anisokaryotic nuclei and abundant eosinophilic cytoplasm...
November 2017: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/29167592/using-large-scale-granger-causality-to-study-changes-in-brain-network-properties-in-the-clinically-isolated-syndrome-cis-stage-of-multiple-sclerosis
#14
Anas Z Abidin, Udaysankar Chockanathan, Adora M DSouza, Matilde Inglese, Axel Wismüller
Clinically Isolated Syndrome (CIS) is often considered to be the first neurological episode associated with Multiple sclerosis (MS). At an early stage the inflammatory demyelination occurring in the CNS can manifest as a change in neuronal metabolism, with multiple asymptomatic white matter lesions detected in clinical MRI. Such damage may induce topological changes of brain networks, which can be captured by advanced functional MRI (fMRI) analysis techniques. We test this hypothesis by capturing the effective relationships of 90 brain regions, defined in the Automated Anatomic Labeling (AAL) atlas, using a large-scale Granger Causality (lsGC) framework...
March 2017: Proceedings of SPIE
https://www.readbyqxmd.com/read/29137644/functional-resonance-magnetic-imaging-fmri-in-adolescents-with-idiopathic-musculoskeletal-pain-a-paradigm-of-experimental-pain
#15
Juliana Molina, Edson Amaro, Liana Guerra Sanches da Rocha, Liliana Jorge, Flavia Heloisa Santos, Claudio A Len
BACKGROUND: Studies on functional magnetic resonance imaging (fMRI) have shown that adults with musculoskeletal pain syndromes tolerate smaller amount of pressure (pain) as well as differences in brain activation patterns in areas related to pain.The objective of this study was to evaluate, through fMRI, the brain activation in adolescents with idiopathic musculoskeletal pain (IMP) while performing an experimental paradigm of pain. METHODS: The study included 10 consecutive adolescents with idiopathic musculoskeletal pain (average age 16...
November 14, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29117647/personality-changes-following-brain-artery-aneurysm-surgery
#16
Ljiljana Pačić-Turk, Tena Šulentić, Ana Havelka Meštrović, Josip Paladino, Goran Mrak
Neuropsychological testing of patients in the course of their recovery from brain injuries enables analysis of cognitive deficiencies and/or emotional changes. The principle study objective was to define organic and/or reactive personality changes and the course of these changes in the function of the time span following brain artery aneurysm surgery in both female and male patients. The study was carried out at the Clinical Department of Neurosurgery, Zagreb University Hospital Center in Zagreb. The data refer to the period from 1989 to 2012 collected in two time intervals, i...
December 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29110334/frontotemporal-dementia-with-trans-activation-response-dna-binding-protein-43-presenting-with-catatonic-syndrome
#17
Ryohei Watanabe, Ito Kawakami, Mitsumoto Onaya, Shinji Higashi, Nobutaka Arai, Haruhiko Akiyama, Masato Hasegawa, Tetsuaki Arai
Catatonia is a clinical syndrome characterized by symptoms such as immobility, mutism, stupor, stereotypy, echophenomena, catalepsy, automatic obedience, posturing, negativism, gegenhalten and ambitendency. This syndrome occurs mostly in mood disorder and schizophrenic patients, and is related to neuronal dysfunction involving the frontal lobe. Some cases of frontotemporal dementia (FTD) with catatonia have been reported, but these cases were not examined by autopsy. Here, we report on a FTD case which showed catatonia after the first episode of brief psychotic disorder...
November 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29099546/the-diagnostic-challenge-of-the-late-onset-frontal-lobe-syndrome-clinical-predictors-for-primary-psychiatric-disorders-versus-behavioral-variant-frontotemporal-dementia
#18
Everard G B Vijverberg, Flora Gossink, Welmoed Krudop, Sietske Sikkes, Cora Kerssens, Niels Prins, Max Stek, Philip Scheltens, Yolande Pijnenburg, Annemiek Dols
OBJECTIVE: Primary psychiatric disorders (PsD) can present with symptomatology identical to that of behavioral variant frontotemporal dementia (bvFTD). To date, clinical guidelines do not provide a solution for this diagnostic challenge. The aim of our study was to prospectively determine which demographic, clinical, neuropsychological, neuroimaging, and cerebrospinal fluid biomarkers are important in distinguishing PsD from bvFTD. METHODS: Patients with late-onset behavioral disturbances (aged 45-75 years, 73% male) were included based on their scores on the Frontal Behavioral Inventory and the Stereotypy Rating Inventory and followed for 2 years from April 2011 to June 2015...
October 31, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29033429/cowden-syndrome-with-a-novel-pten-mutation-presenting-with-partial-epilepsy-related-to-focal-cortical-dysplasia
#19
Tadashi Adachi, Hiroshi Takigawa, Takashi Nomura, Yasuhiro Watanabe, Hisanori Kowa
Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurological abnormalities while he was not having a seizure. Brain magnetic resonance imaging showed focal cortical dysplasia in the left frontal lobe. Electroencephalography showed sharp waves over the left frontal lesion...
October 16, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29018010/unusual-complications-from-amitriptyline-intoxication
#20
Takeshi Nishimura, Hayato Maruguchi, Atsunori Nakao, Shinichi Nakayama
Althoughtricyclic antidepressants(TCAs) are frequently prescribed to patients with depression, these drugs can also be misused. A 21-year-old comatose patient was referred to our hospital presenting with ventricular tachycardia. Despite initial treatment including intravascular lipid emulsion, ventricular fibrillation occurred soon after arrival. Venoarterial extracorporeal membrane oxygenation and therapeutic hypothermia were administered. Refractory arrhythmia disappeared on the next day. A high concentration of amitriptyline was identified in his blood samples on arrival...
October 10, 2017: BMJ Case Reports
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