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https://www.readbyqxmd.com/read/28441636/psychological-features-and-quality-of-life-in-50-adult-patients-with-epilepsy-and-their-caregivers-from-the-lecco-epilepsy-center-italy
#1
Alessandra Petruzzi, Andrea Rigamonti, Claudia Yvonne Finocchiaro, Paolo Borelli, Elena Lamperti, Antonio Silvani, Rossana Regazzoni, Lorenzo Stanzani, Andrea Salmaggi
Epilepsy is one of the most common neurological disorders. To the best of our knowledge, in Italy, the relationship between patients' and caregivers' psychological state has rarely been analyzed. Thus, we sought to evaluate both the psychological state of patients with epilepsy and that of their caregivers and the interrelationship between them. We also assessed the existing relation between psychological features and some clinical and demographic information, such as number of antiepileptic drugs (AEDs), epilepsy duration and education level of patients and their caregivers...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28441414/regional-early-and-progressive-loss-of-brain-pericytes-but-not-vascular-smooth-muscle-cells-in-adult-mice-with-disrupted-platelet-derived-growth-factor-receptor-%C3%AE-signaling
#2
Angeliki Maria Nikolakopoulou, Zhen Zhao, Axel Montagne, Berislav V Zlokovic
Pericytes regulate key neurovascular functions of the brain. Studies in pericyte-deficient transgenic mice with aberrant signaling between endothelial-derived platelet-derived growth factor BB (PDGF-BB) and platelet-derived growth factor receptor β (PDGFRβ) in pericytes have contributed to better understanding of the role of pericytes in the brain. Here, we studied PdgfrβF7/F7 mice, which carry seven point mutations that disrupt PDGFRβ signaling causing loss of pericytes and vascular smooth muscle cells (VSMCs) in the developing brain...
2017: PloS One
https://www.readbyqxmd.com/read/28441394/maternal-obese-type-gut-microbiota-differentially-impact-cognition-anxiety-and-compulsive-behavior-in-male-and-female-offspring-in-mice
#3
Annadora J Bruce-Keller, Sun-Ok Fernandez-Kim, R Leigh Townsend, Claudia Kruger, Richard Carmouche, Susan Newman, J Michael Salbaum, Hans-Rudolf Berthoud
Maternal obesity is known to predispose offspring to metabolic and neurodevelopmental abnormalities. While the mechanisms underlying these phenomena are unclear, high fat diets dramatically alter intestinal microbiota, and gut microbiota can impact physiological function. To determine if maternal diet-induced gut dysbiosis can disrupt offspring neurobehavioral function, we transplanted high fat diet- (HFD) or control low fat diet-associated (CD) gut microbiota to conventionally-housed female mice. Recipient mice were then bred and the behavioral phenotype of male and female offspring was tracked...
2017: PloS One
https://www.readbyqxmd.com/read/28441266/safety-of-the-inactivated-japanese-encephalitis-virus-vaccine-ixiaro%C3%A2-in-children-an-open-label-randomized-active-controlled-phase-3-study
#4
Katrin L Dubischar, Vera Kadlecek, Benjamin Sablan, Charissa Fay Borja-Tabora, Salvacion Gatchalian, Susanne Eder-Lingelbach, Zsuzsanna Mueller, Kerstin Westritschnig
BACKGROUND: Japanese encephalitis (JE) remains a serious health concern in Asian countries and has sporadically affected pediatric travelers. In the present study we monitored the safety profile of the JE virus (JEV) vaccine IXIARO in a pediatric population. METHODS: We randomized 1869 children between the age of 2 months and 17 years in an age-stratified manner to vaccination with IXIARO or one of the control vaccines, Prevnar and HAVRIX 720. Adverse events (AEs) (unsolicited and solicited local and systemic adverse events), serious AEs and medically-attended AEs were assessed up to Day 56 and Month 7 after the first dose...
April 24, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28440900/phosphoglycerate-dehydrogenase-phgdh-deficiency-without-epilepsy-mimicking-primary-microcephaly
#5
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff, Hala Nasser, Catherine Delanoe, Emma Cuadro, Rémi Kom, Narcisse Elanga, Anne Favre, Séverine Drunat, Alain Verloes
Phosphoglycerate dehydrogenase (PHGDH) deficiency (OMIM 256520) is a rare autosomal recessive disorder of serine synthesis, with mostly severe congenital microcephaly, caused by mutations in the PHGDH gene. Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440798/improved-gene-delivery-to-adult-mouse-spinal-cord-through-the-use-of-engineered-hybrid-adeno-associated-viral-serotypes
#6
J J Siu, N J Queen, W Huang, F Q Yin, X Liu, C Wang, D M McTigue, L Cao
Adeno-associated viral (AAV) vectors are often used in gene therapy for neurological disorders because of its safety profile and promising results in clinical trials. One challenge to AAV gene therapy is effective transduction of large numbers of the appropriate cell type, which can be overcome by modulating the viral capsid through DNA shuffling. Our previous study demonstrates that Rec2, among a family of novel engineered hybrid capsid serotypes (Rec1~4) transduces adipose tissue with far superior efficiency than naturally occurring AAV serotypes...
April 25, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#7
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28439316/epigenetic-assays-for-chemical-biology-and-drug-discovery
#8
REVIEW
Sheraz Gul
The implication of epigenetic abnormalities in many diseases and the approval of a number of compounds that modulate specific epigenetic targets in a therapeutically relevant manner in cancer specifically confirms that some of these targets are druggable by small molecules. Furthermore, a number of compounds are currently in clinical trials for other diseases including cardiovascular, neurological and metabolic disorders. Despite these advances, the approved treatments for cancer only extend progression-free survival for a relatively short time and being associated with significant side effects...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28439226/the-phosphodiesterase-10a-inhibitor-pf-2545920-enhances-hippocampal-excitability-and-seizure-activity-involving-the-upregulation-of-glua1-and-nr2a-in-post-synaptic-densities
#9
Yanke Zhang, Baobing Gao, Fangshuo Zheng, Shanshan Lu, Yun Li, Yan Xiong, Qin Yang, Yong Yang, Pengfei Fu, Fei Xiao, Xuefeng Wang
Phosphodiesterase regulates the homeostasis of cAMP and cGMP, which increase the strength of excitatory neural circuits and/or decrease inhibitory synaptic plasticity. Abnormally, synchronized synaptic transmission in the brain leads to seizures. A phosphodiesterase 10A (PDE10A) inhibitor PF-2545920 has recently attracted attention as a potential therapy for neurological and psychiatric disorders. We hypothesized that PF-2545920 plays an important role in status epilepticus (SE) and investigated the underlying mechanisms...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28439198/assessment-of-tumors-in-children-with-tuberous-sclerosis-a-single-centre-s-experience
#10
Suna Emir, Şadan Hacısalihoğlu, Derya Özyörük, Filiz Ekici, Aydan Değerliyurt, Alev Güven, İlker Çetin
AIM: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. MATERIAL AND METHODS: Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments...
March 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28439196/clinical-differences-of-influenza-subspecies-among-hospitalized-children
#11
Manolya Acar, Murat Sütçü, Hacer Aktürk, Selda Hançerli Törün, Metin Uysalol, Sevim Meşe, Nuran Salman, Ayper Somer
AIM: Clinical findings, mortality, and morbidity rates differ among influenza subspecies. Awareness of these differences will lead physicians to choose the proper diagnostic and therapeutic strategies and to foresee possible complications. The aim of this study was to evaluate the clinical differences of influenza subspecies among hospitalized children. MATERIAL AND METHODS: Hospitalized children with proven influenza infection by polymerase chain reaction on nasopharyngeal swab specimens in our clinic, between December 2013 and March 2016, were enrolled...
March 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28439079/translation-but-not-transfection-limits-clinically-relevant-exogenous-mrna-based-induction-of-alpha-4-integrin-expression-on-human-mesenchymal-stem-cells
#12
Adam Nowakowski, Anna Andrzejewska, Johannes Boltze, Franziska Nitzsche, Li-Li Cui, Jukka Jolkkonen, Piotr Walczak, Barbara Lukomska, Miroslaw Janowski
Mesenchymal stem cells (MSCs) represent promising resource of cells for regenerative medicine in neurological disorders. However, efficient and minimally invasive methods of MSCs delivery to the brain still have to be developed. Intra-arterial route is very promising, but MSCs are missing machinery for diapedesis through blood-brain barrier. Thus, here we have tested a mRNA-based method to induce transient expression of ITGA4, an adhesion molecule actively involved in cell extravasation. We observed that transfection with an ITGA4-mRNA construct bearing a conventional cap analogue (7-methylguanosine) failed to produce ITGA4 protein, but exogenous ITGA4-mRNA was detected in transfected MSCs...
April 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#13
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28437682/sleep-problems-in-pediatric-epilepsy-and-adhd-the-impact-of-comorbidity
#14
Ozalp Ekinci, Çetin Okuyaz, Serkan Gunes, Nuran Ekinci, Merve Kalınlı, Muhammet Emin Tan, Halenur Teke, Meltem Çobanoğulları Direk, Semra Erdoğan
AIMS: Attention-deficit hyperactivity disorder (ADHD) is a frequent comorbidity in pediatric epilepsy. Although sleep problems are commonly reported in both children with primary ADHD and epilepsy, those with epilepsy-ADHD comorbidity have not been well studied. This study aimed to compare sleep problems among three groups of children: 1) children with epilepsy, 2) children with epilepsy and ADHD (epilepsy-ADHD), and 3) children with primary ADHD. METHODS: 53 children with epilepsy, 35 children with epilepsy-ADHD, and 52 children with primary ADHD completed the Children's Sleep Habits Questionnaire (CSHQ)...
April 21, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28437057/psychotic-and-bipolar-disorders-behavioral-disorders-in-dementia
#15
Sherri Morgan
Psychosis is one of the most common conditions in later life, with dementia being a main contributing factor. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), now categorizes the various types of dementia as neurocognitive disorders. Alzheimer disease is a common cause of dementia and psychosis. Psychosis also is seen in patients with vascular dementia and dementia with Lewy bodies. Psychosis can be primary, caused by a psychiatric disorder listed in the DSM-5, or secondary, due to a medical or neurologic condition...
April 2017: FP Essentials
https://www.readbyqxmd.com/read/28436627/-temporal-lobe-epilepsy-and-adult-hippocampal-neurogenesis
#16
Liying Chen, Yi Wang, Zhong Chen
Temporal lobe epilepsy (TLE) is a common and severe neurological disorder which is often intractable. It can not only damage the normal structure and function of hippocampus, but also affect the neurogenesis in dentate gyrus (DG). It is well documented from researches on the animal models of TLE that after a latent period of several days, prolonged seizure activity leads to a dramatic increase in mitotic activity in the hippocampal DG. However, cell proliferation returns to baseline levels within 3-4 weeks after status epilepticus (SE)...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28436626/-the-role-of-central-cholinergic-system-in-epilepsy
#17
Ying Wang, Yi Wang, Zhong Chen
Epilepsy is a chronic neurological disorder, which is not only related to the imbalance between excitatory glutamic neurons and inhibitory GABAergic neurons, but also related to abnormal central cholinergic regulation. This article summarizes the scientific background and experimental data about cholinergic dysfunction in epilepsy from both cellular and network levels, further discusses the exact role of cholinergic system in epilepsy. In the cellular level, several types of epilepsy are believed to be associated with aberrant metabotropic muscarinic receptors in several different brain areas, while the mutations of ionotropic nicotinic receptors have been reported to result in a specific type of epilepsy-autosomal dominant nocturnal frontal lobe epilepsy...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28436603/parent-perception-of-the-impact-of-using-thickened-fluids-in-children-with-dysphagia
#18
Patricia Krummrich, Barbara Kline, Kate Krival, Michael Rubin
BACKGROUND: Oropharyngeal dysphagia occurs in children without known neurological disorders, increasing their risk for respiratory problems and inadequate intake. Clinicians may recommend thickening nutritive fluids; however, there is little research regarding the impact of thickening nutritive fluids on clinical outcomes in children. METHODS: We used a parental reporting tool to determine whether parents identified changes in signs of dysphagia or volume of intake when thickened fluids were incorporated into an individualized feeding program for dysphagic children without known neurological problems...
April 24, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28436328/potential-of-stem-cells-as-regenerative-medicine-from-preface-to-advancements
#19
Muhammad Shahid Javaid, Usman Ali Ashfaq, Muhammad Shareef Masoud
Regenerative medicine is an emerging field to find solutions to some of the most challenging medical problems of humans. Regenerative medicine has the potential to revolutionize the whole health care system, in dealing with conditions such as heart disease, emphysema, liver fibrosis, kidney disease, diabetes, and neurological disorders. Among the many challenges to bringing regenerative medicine to the clinic is the selection of the best cell types and reliable ways to expand the number of cells. Stem cells emerged as the best cell type for regeneration of different organs...
2017: Critical Reviews in Eukaryotic Gene Expression
https://www.readbyqxmd.com/read/28435477/acrodermatitis-enteropathica-in-a-pair-of-twins
#20
Abdullatif Al Rashed, Mohja Al Shehri, Feroze Kaliyadan
BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation...
December 31, 2016: Journal of Dermatological Case Reports
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