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Journal of Central Nervous System Disease

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https://www.readbyqxmd.com/read/29123435/early-infantile-leigh-like-slc19a3-gene-defects-have-a-poor-prognosis-report-and-review
#1
Majid Alfadhel
Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28855799/review-of-lisdexamfetamine-dimesylate-in-adults-with-attention-deficit-hyperactivity-disorder
#2
REVIEW
Jadwiga Najib, Dexter Wimer, Julie Zeng, Kristina W Lam, Natalya Romanyak, Eva Paige Morgan, Anu Thadavila
Lisdexamfetamine dimesylate (LDX) is the first prodrug stimulant used for the treatment of attention-deficit/hyperactivity disorder (ADHD) dosed once daily. Due to its long-acting properties, LDX remains pharmacologically inactive until an enzymatic process predominantly associated with red blood cells converts it to the active ingredient, d-amphetamine and the amino acid lysine. The efficacy of LDX over placebo has been demonstrated in several studies in adults with moderate to severe ADHD with significant improvements noted in ADHD rating scales, Clinical Global Improvement scores, and assessments of executive function, for all doses of LDX (30-70 mg daily)...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28855798/abnormalities-of-dopamine-d3-receptor-signaling-in-the-diseased-brain
#3
REVIEW
G Aleph Prieto
Dopamine D3 receptors (D3R) modulate neuronal activity in several brain regions including cortex, striatum, cerebellum, and hippocampus. A growing body of evidence suggests that aberrant D3R signaling contributes to multiple brain diseases, such as Parkinson's disease, essential tremor, schizophrenia, and addiction. In line with these findings, D3R has emerged as a potential target in the treatment of neurological disorders. However, the mechanisms underlying neuronal D3R signaling are poorly understood, either in healthy or diseased brain...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28811745/inhibition-of-inflammation-mediated-through-the-tumor-necrosis-factor-%C3%AE-biochemical-pathway-can-lead-to-favorable-outcomes-in-alzheimer-disease
#4
REVIEW
Daniah Shamim, Michael Laskowski
Tumor necrosis factor α (TNF-α) inhibitors have long been used as disease-modifying agents in immune disorders. Recently, research has shown a role of chronic neuroinflammation in the pathophysiology of neurodegenerative diseases such as Alzheimer disease, and interest has been generated in the use of anti-TNF agents and TNF-modulating agents for prevention and treatment. This article extensively reviewed literature on animal studies testing these agents. The results showed a role for direct and indirect TNF-α inhibition through agents such as thalidomide, 3,6-dithiothalidomide, etanercept, infliximab, exendin-4, sodium hydrosulfide, minocycline, imipramine, and atorvastatin...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28615985/treatment-of-movement-disorders-with-focused-ultrasound
#5
REVIEW
Paul S Fishman, Victor Frenkel
Although the use of ultrasound as a potential therapeutic modality in the brain has been under study for several decades, relatively few neuroscientists or neurologists are familiar with this technology. Stereotactic brain lesioning had been widely used as a treatment for medically refractory patients with essential tremor (ET), Parkinson disease (PD), and dystonia but has been largely replaced by deep brain stimulation (DBS) surgery, with advantages both in safety and efficacy. However, DBS is associated with complications including intracerebral hemorrhage, infection, and hardware malfunction...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28579870/tumor-necrosis-factor-%C3%AE-inhibition-for-alzheimer-s-disease
#6
REVIEW
Rudy Chang, Kei-Lwun Yee, Rachita K Sumbria
Tumor necrosis factor α (TNF-α) plays a central role in the pathophysiology of Alzheimer's disease (AD). Food and Drug Administration-approved biologic TNF-α inhibitors are thus a potential treatment for AD, but they do not cross the blood-brain barrier. In this short review, we discuss the involvement of TNF-α in AD, challenges associated with the development of existing biologic TNF-α inhibitors for AD, and potential therapeutic strategies for targeting TNF-α for AD therapy.
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28579869/management-of-viral-central-nervous-system-infections-a-primer-for-clinicians
#7
REVIEW
P Brandon Bookstaver, Phillip L Mohorn, Ansal Shah, Lauren D Tesh, April M Quidley, Ravish Kothari, Christopher M Bland, Sharon Weissman
Viruses are a common cause of central nervous system (CNS) infections with many host, agent, and environmental factors influencing the expression of viral diseases. Viruses can be responsible for CNS disease through a variety of mechanisms including direct infection and replication within the CNS resulting in encephalitis, infection limited to the meninges, or immune-related processes such as acute disseminated encephalomyelitis. Common pathogens including herpes simplex virus, varicella zoster, and enterovirus are responsible for the greatest number of cases in immunocompetent hosts...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28579868/evidence-based-brief-obsessive-compulsive-scale
#8
COMMENT
Susanne Bejerot, Gunnar Edman, Louise Frisén, Mats Humble
No abstract text is available yet for this article.
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28469524/olfactory-neuroepithelial-neural-progenitor-cells-from-subjects-with-bipolar-i-disorder
#9
Yonglin Gao, Welby Winstead, Zhenmin Lei, Chengliang Lu, Fred J Roisen, Rif S El-Mallakh
BACKGROUND: Research into the pathophysiology of bipolar disorder (BD) is limited by the inability to examine brain cellular processes in subjects with the illness. METHODS: Endoscopic biopsy was performed in subjects with bipolar I disorder to establish olfactory neural progenitor (ONP) cell lines. Olfactory function was assessed prebiopsy and postbiopsy using the University of Pennsylvania Smell Identification Test (UPSIT). Cells were characterized to determine their lineage...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28469523/role-of-transporters-in-central-nervous-system-drug-delivery-and-blood-brain-barrier-protection-relevance-to-treatment-of-stroke
#10
REVIEW
Hrvoje Brzica, Wazir Abdullahi, Kathryn Ibbotson, Patrick T Ronaldson
Ischemic stroke is a leading cause of morbidity and mortality in the United States. The only approved pharmacologic treatment for ischemic stroke is thrombolysis via recombinant tissue plasminogen activator (r-tPA). A short therapeutic window and serious adverse events (ie, hemorrhage, excitotoxicity) greatly limit r-tPA therapy, which indicates an essential need to develop novel stroke treatment paradigms. Transporters expressed at the blood-brain barrier (BBB) provide a significant opportunity to advance stroke therapy via central nervous system delivery of drugs that have neuroprotective properties...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28469522/unmasking-the-role-of-uptake-transporters-for-digoxin-uptake-across-the-barriers-of-the-central-nervous-system-in-rat
#11
Kunal S Taskar, T Thanga Mariappan, Vishwanath Kurawattimath, Shashyendra Singh Gautam, T V Radhakrishna Mullapudi, Srikanth K Sridhar, Raja Reddy Kallem, Punit Marathe, Sandhya Mandlekar
The role of uptake transporter (organic anion-transporting polypeptide [Oatp]) in the disposition of a P-glycoprotein (P-gp) substrate (digoxin) at the barriers of central nervous system, namely, the blood-brain barrier (BBB), blood-spinal cord barrier (BSCB), and brain-cerebrospinal fluid barrier (BCSFB), was studied using rat as a preclinical species. In vivo chemical inhibition of P-gp and Oatp was achieved using elacridar and rifampicin, respectively. Our findings show that (1) digoxin had a low brain-to-plasma concentration ratio (B/P) (0...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/27594793/evidence-based-assessment-of-obsessive-compulsive-disorder
#12
REVIEW
Amy M Rapp, R Lindsay Bergman, John Piacentini, Joseph F McGuire
Obsessive-compulsive disorder (OCD) is a neuropsychiatric illness that often develops in childhood, affects 1%-2% of the population, and causes significant impairment across the lifespan. The first step in identifying and treating OCD is a thorough evidence-based assessment. This paper reviews the administration pragmatics, psychometric properties, and limitations of commonly used assessment measures for adults and youths with OCD. This includes diagnostic interviews, clinician-administered symptom severity scales, self-report measures, and parent/child measures...
2016: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/27375363/molecular-mechanism-of-adult-neurogenesis-and-its-association-with-human-brain-diseases
#13
REVIEW
He Liu, Ni Song
Recent advances in neuroscience challenge the old dogma that neurogenesis occurs only during embryonic development. Mounting evidence suggests that functional neurogenesis occurs throughout adulthood. This review article discusses molecular factors that affect adult neurogenesis, including morphogens, growth factors, neurotransmitters, transcription factors, and epigenetic factors. Furthermore, we summarize and compare current evidence of associations between adult neurogenesis and human brain diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and brain tumors...
2016: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/27127413/benign-sphenoid-wing-meningioma-presenting-with-an-acute-intracerebral-hemorrhage-a-case-report
#14
Radek Frič, John K Hald, Ellen-Ann Antal
BACKGROUND AND STUDY OBJECT: We report an unusual case of a benign lateral sphenoid wing meningioma that presented with, and was masked by, an acute intracerebral hemorrhage. CASE REPORT: A 68-year-old woman was admitted after sudden onset of coma. Computed tomography (CT) revealed an intracerebral hemorrhage, without any underlying vascular pathology on CT angiography. During the surgery, we found a lateral sphenoid wing meningioma with intratumoral bleeding that extended into the surrounding brain parenchyma...
2016: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/26106267/bioinformatics-data-mining-approach-suggests-coexpression-of-agtpbp1-with-an-als-linked-gene-c9orf72
#15
Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-Ichi Satoh
BACKGROUND: Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 (C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Formation of nuclear RNA foci, accumulation of repeat-associated non-ATG-translated dipeptide-repeat proteins, and haploinsufficiency of C9orf72 are proposed for pathological mechanisms of C9ALS/FTD. However, at present, the physiological function of C9orf72 remains largely unknown...
2015: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/26023283/a-comprehensive-profile-of-chip-seq-based-olig2-target-genes-in-motor-neuron-progenitor-cells-suggests-the-possible-involvement-of-olig2-in-the-pathogenesis-of-amyotrophic-lateral-sclerosis
#16
Jun-Ichi Satoh, Naohiro Asahina, Shouta Kitano, Yoshihiro Kino
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is an intractable neurodegenerative disease that primarily affects motor neurons in the cerebral cortex and the spinal cord. Recent evidence indicates that dysfunction of oligodendrocytes is implicated in the pathogenesis of ALS. The basic helix-loop-helix (bHLH) transcription factor Olig2 plays a pivotal role in the development of both motor neurons and oligodendrocytes in the progenitor of motor neuron (pMN) domain of the spinal cord, supporting evidence for the shared motor neuron/oligodendrocyte lineage...
2015: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/24453523/aromatic-amino-acid-decarboxylase-deficiency-not-responding-to-pyridoxine-and-bromocriptine-therapy-case-report-and-review-of-response-to-treatment
#17
Majid Alfadhel, Rana Kattan
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme. The clinical features of this condition include a combination of dopamine, noradrenaline, and serotonin deficiencies, and a patient may present with hypotonia, oculogyric crises, sweating, hypersalivation, autonomic dysfunction, and progressive encephalopathy with severe developmental delay. We report the case of an 8-month-old boy who presented with the abovementioned symptoms and who was diagnosed with AADC deficiency based on clinical, biochemical, and molecular investigations...
January 7, 2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25336998/administration-of-an-amino-acid-based-regimen-for-the-management-of-autonomic-nervous-system-dysfunction-related-to-combat-induced-illness
#18
William E Shell, Marcus Charuvastra, Mira Breitstein, Stephanie L Pavlik, Anthony Charuvastra, Lawrence May, David S Silver
The etiology and pathophysiology of posttraumatic stress disorder (PTSD) remains poorly understood. The nutritional deficiencies associated with the altered metabolic processes of PTSD have not previously been studied in detail. This pilot study measured the reduction in symptoms in 21 military veterans reporting moderate to severe symptoms associated with PTSD. Two amino acid-based medical foods specifically formulated with biogenic amines and other nutrients were administered to study subjects targeting specific neurotransmitter deficiencies resulting from altered metabolic activity associated with PTSD...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25336997/idiopathic-ventral-spinal-cord-herniation-an-increasingly-recognized-cause-of-thoracic-myelopathy
#19
Jon Berg-Johnsen, Eivind Ilstad, Frode Kolstad, Mark Züchner, Jarle Sundseth
Idiopathic spinal cord herniation (ISCH), where a segment of the spinal cord has herniated through a ventral defect in the dura, is a rarely encountered cause of thoracic myelopathy. The purpose of our study was to increase the clinical awareness of this condition by presenting our experience with seven consecutive cases treated in our department since 2005. All the patients developed pronounced spastic paraparesis or Brown-Séquard syndrome for several years (mean, 4.7 years) prior to diagnosis. MRI was consistent with a transdural spinal cord herniation in the mid-thoracic region in all the cases...
2014: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/25249767/increased-epidermal-growth-factor-receptor-egfr-associated-with-hepatocyte-growth-factor-hgf-and-symptom-severity-in-children-with-autism-spectrum-disorders-asds
#20
Anthony J Russo
BACKGROUND: One in 88 children in the US is thought to have one of the autism spectrum disorders (ASDs). ASDs are characterized by social impairments and communication problems. Growth factors and their receptors may play a role in the etiology of ASDs. Research has shown that epidermal growth factor receptor (EGFR) activation is associated with nerve cell development and repair. This study was designed to measure plasma levels of EGFR in autistic children and correlate these levels with its ligand, epidermal growth factor, other related putative biomarkers such as hepatocyte growth factor (HGF), the ligand for MET (MNNG HOS transforming gene) receptor, as well as the symptom severity of 19 different behavioral symptoms...
2014: Journal of Central Nervous System Disease
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