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https://www.readbyqxmd.com/read/28934791/a-practical-guide-for-treatment-of-pain-in-patients-with-systemic-mast-cell-activation-disease
#1
Stefan Wirz, Gerhard J Molderings
Systemic mast cell activation disease (MCAD, a subclass of mastocytosis), which has a prevalence of around 17% (at least in the German population), is characterized by accumulation of genetically altered dysfunctional mast cells with abnormal release of these cells' mediators. Since mast cells affect functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing, this disease has to be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity of a generally inflammatory and allergic theme...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28934790/factors-associated-with-successful-responses-to-transforaminal-balloon-adhesiolysis-for-chronic-lumbar-foraminal-stenosis-retrospective-study
#2
Doo Hwan Kim, Seong-Sik Cho, Yeon-Jin Moon, Koo Kwon, Kunhee Lee, Jeong-Gil Leem, Jin-Woo Shin, Ji Hyun Park, Seong-Soo Choi
BACKGROUND: Recently, transforaminal balloon adhesiolysis was introduced to manage patients with chronic radicular pain occurring with or without low back pain. However, the factors associated with successful responses to transforaminal balloon adhesiolysis are not known. OBJECTIVE: To evaluate the factors associated with successful responses to transforaminal balloon adhesiolysis for chronic lumbar spinal stenosis. STUDY DESIGN: This is a retrospective observational study...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28934619/distinct-brain-metabolic-patterns-separately-associated-with-cognition-motor-function-and-aging-in-parkinson-s-disease-dementia
#3
Ji Hyun Ko, Audrey Katako, Maram Aljuaid, Andrew L Goertzen, Andrew Borys, Douglas E Hobson, Seok Min Kim, Chong Sik Lee
We explored whether patients with Parkinson's disease dementia (PDD) show a distinct spatial metabolic pattern that characterizes cognitive deficits in addition to motor dysfunction. Eighteen patients with PDD underwent 3 separate positron emission tomography sessions with [(18)F]fluorodeoxyglucose (for glucose metabolism), fluorinated N-3-fluoropropyl-2-beta-carboxymethoxy-3-beta-(4-iodophenyl) nortropane (for dopamine transporter density) and Pittsburgh compound-B (for beta-amyloid load). We confirmed in PDD versus normal controls, overall hypometabolism in the posterior and prefrontal brain regions accompanied with hypermetabolism in subcortical structures and the cerebellar vermis...
August 31, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28934536/glomus-tumor-of-the-sciatic-nerve-an-extraspinal-cause-of-sciatica
#4
Basilia Onyinyechukwu Nwankwo, Robert M Henshaw, Dhruv Kumar
Glomus tumors are small, benign tumors that arise from glomus bodies, structures found normally within the dermis that assist in temperature regulation via their vasoconstrictive response to sympathetic stimuli. Glomus tumors are found typically in the hand and are classically a cause of focal pain and temperature sensitivity. They often present as a small blue lesion seen under the nail bed of a finger or a toe and cause point tenderness. Glomus tumors of peripheral nerves are exceedingly rare and can lead to disability akin to compressive neuropathy when present...
September 21, 2017: Orthopedics
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#5
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934389/the-16p11-2-homologs-fam57ba-and-doc2a-generate-certain-brain-and-body-phenotypes
#6
Jasmine M McCammon, Alicia Blaker-Lee, Xiao Chen, Hazel Sive
Deletion of the 16p11.2 CNV affects 25 core genes and is associated with multiple symptoms affecting brain and body, including seizures, hyperactivity, macrocephaly, and obesity. Available data suggest that most symptoms are controlled by haploinsufficiency of two or more 16p11.2 genes. To identify interacting 16p11.2 genes, we used a pairwise partial loss of function antisense screen for embryonic brain morphology, using the accessible zebrafish model. fam57ba, encoding a ceramide synthase, was identified as interacting with the doc2a gene, encoding a calcium-sensitive exocytosis regulator, a genetic interaction not previously described...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934250/changes-in-striatal-activity-and-functional-connectivity-in-a-mouse-model-of-huntington-s-disease
#7
Magali Cabanas, Fares Bassil, Nicole Mons, Maurice Garret, Yoon H Cho
Hereditary Huntington's disease (HD) is associated with progressive motor, cognitive and psychiatric symptoms. A primary consequence of the HD mutation is the preferential loss of medium spiny projection cells with relative sparing of local interneurons in the striatum. In addition, among GABAergic striatal projection cells, indirect pathway cells expressing D2 dopamine receptors are lost earlier than direct pathway cells expressing D1 receptors. To test in vivo the functional integrity of direct and indirect pathways as well as interneurons in the striatum of male R6/1 transgenic mice, we assessed their c-Fos expression levels induced by a striatal-dependent cognitive task and compared them with age-matched wild-type littermates...
2017: PloS One
https://www.readbyqxmd.com/read/28934215/tracing-the-temporal-stability-of-autism-spectrum-diagnosis-and-severity-as-measured-by-the-autism-diagnostic-observation-schedule-a-systematic-review-and-meta-analysis
#8
Łucja Bieleninik, Maj-Britt Posserud, Monika Geretsegger, Grace Thompson, Cochavit Elefant, Christian Gold
BACKGROUND: Exploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms. The objective of this study was to examine the temporal stability of autism spectrum disorder and autism diagnosis, and the longitudinal trajectories of autism core symptom severity. We furthermore sought to identify possible predictors for change. METHODS: We searched PubMed, PsycInfo, EMBASE, Web of Science, Cochrane Library up to October 2015 for prospective cohort studies addressing the autism spectrum disorder/autism diagnostic stability, and prospective studies of intervention effects...
2017: PloS One
https://www.readbyqxmd.com/read/28933882/maternal-depressive-symptoms-mother-child-interactions-and-children-s-executive-function
#9
Noa Gueron-Sela, Marie Camerota, Michael T Willoughby, Lynne Vernon-Feagans, Martha J Cox
This study examined the independent and mediated associations between maternal depression symptoms (MDS), mother-child interaction, and child executive function (EF) in a prospective longitudinal sample of 1,037 children (50% boys) from predominantly low-income and rural communities. When children were 6, 15 and 24 months of age, mothers reported their level of depressive symptomatology. At 24 and 36 months of age, mother-child interactions during play were rated for warmth-sensitivity and harsh-intrusiveness, and dyadic joint attention and maternal language complexity were assessed from a book sharing activity...
September 21, 2017: Developmental Psychology
https://www.readbyqxmd.com/read/28933672/cognitive-impairment-and-the-regional-distribution-of-cerebellar-lesions-in-multiple-sclerosis
#10
Sean M Tobyne, Wilson B Ochoa, J Daniel Bireley, Victoria Mj Smith, Jeroen Jg Geurts, Jeremy D Schmahmann, Eric C Klawiter
BACKGROUND: Cerebellar lesions are often reported in relapsing-remitting multiple sclerosis (RRMS) and have been associated with impaired motor function and cognitive status. However, prior research has primarily focused on summary measures of cerebellar involvement (e.g. total lesion load, gray/white matter volume) and not on the effect of lesion load within specific regions of cerebellar white matter. OBJECTIVE: Spatially map the probability of cerebellar white matter lesion (CWML) occurrence in RRMS and explore the relationship between cognitive impairment and lesion (CWML) location within the cerebellum...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28933261/pharmacological-treatment-of-cognitive-symptoms-in-major-depressive-disorder
#11
Zihang Pan, Radu C Grovu, Danielle S Cha, Nicole E Carmona, Mehala Subramaniapillai, Margarita Shekotikhina, Carola Rong, Yena Lee, Roger S McIntyre
: Background: Cognitive dysfunction is a core transdiagnostic domain of Major Depressive Disorder (MDD) and is a principal determinant of functional recovery. However, it has been insufficiently targeted within the current therapeutic framework for MDD. OBJECTIVE: To highlight these unmet cognitive needs in MDD. METHODS: An article search was conducted using PubMed from inception to November 2016: Major Depressive Disorder (and/or variant) was cross-referenced with the following terms: antidepressants, augmentation, cognition, cognitive deficits, cognitive dysfunction, functional outcomes, mechanism of action, and treatment...
September 18, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28933254/the-efficacy-of-a-working-memory-training-in-substance-use-patients-a-randomized-double-blind-placebo-controlled-clinical-trial
#12
Sabine Wanmaker, Sophie Maaike Jorinde Leijdesdorff, Elke Geraerts, Ben J M van de Wetering, Peter J Renkema, Ingmar H A Franken
INTRODUCTION: Substance use disorder patients show impairments in working memory (WM) functioning. Previous findings indicate that a WM training results in improvements of working memory capacity (WMC) and in decreased clinical symptoms in a range of mental disorders, including alcohol use disorder. METHOD: The aim of the current study is to investigate the efficacy of a 24-session WM training in addition to treatment as usual on craving, WMC, substance use, impulsivity, attention bias, and psychopathology using a randomized double-blind placebo-controlled trial...
September 21, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28933237/cross-validation-and-development-of-empirically-derived-adhd-assessment-strategies-insights-from-the-national-longitudinal-study-of-adolescent-health-add-health
#13
Shirag K Shemmassian, Steve S Lee
OBJECTIVE: There is replicated evidence that individual ADHD symptoms differentially predict ADHD diagnostic status, and that non- Diagnostic and Statistical Manual of Mental Disorders (DSM)-based symptom algorithms are superior to DSM criteria for ruling in or ruling out ADHD. However, these findings have been limited to case-control samples, despite the need to replicate them in independent and more representative samples and to increase their generalizability. METHOD: We analyzed the base rates and psychometric properties of ADHD symptoms in the population-based National Longitudinal Study of Adolescent Health (Add Health; http://www...
September 1, 2017: Journal of Attention Disorders
https://www.readbyqxmd.com/read/28933213/repeated-mild-traumatic-brain-injury-potential-mechanisms-of-damage
#14
Brooke Fehily, Melinda Fitzgerald
Mild traumatic brain injury (mTBI) represents a significant public healthcare concern, accounting for the majority of all head injuries. While symptoms are generally transient, some patients go on to experience long-term cognitive impairments and additional mild impacts can result in exacerbated and persisting negative outcomes. To date, studies using a range of experimental models have reported chronic behavioral deficits in the presence of axonal injury and inflammation following repeated mTBI; assessments of oxidative stress and myelin pathology have thus far been limited...
July 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28933121/-effect-of-naoxintong-capsule-on-endothelial-progenitor-cell-mobilization-and-homing-following-bone-marrow-transplantation-in-a-mouse-hind-limb-ischemia-model
#15
Li-Zhen Qiu, Lu Chen, Chun-Xiao Li, Xiao Geng, Xing-Yu You, Lu-Sha Zhang, Hong Wang
Endothelial progenitor cells (EPCs) are precursor cells of endothelial cells. Signal molecules produced by ischemia and hypoxia can promote mobilization of bone marrow EPCs to peripheral circulation and formation of novel blood vessels in tissues that are damaged during heart attack. Naoxintong capsule (NXT) has the functions of promoting blood circulation, removing blood stasis, promoting the circulation of qi and relieving pain. The various components in NXT have protective effects on blood vessels and can effectively improve the symptoms of ischemia...
December 2016: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#16
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
September 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28932984/rnai-mediated-down-regulation-of-a-melanin-polyketide-synthase-pks1-gene-in-the-fungus-slafractonia-leguminicola
#17
Mohammad S Alhawatema, Sayed Gebril, Daniel Cook, Rebecca Creamer
The fungus Slafractonia leguminicola, the causal agent of blackpatch disease of legumes produces two mycotoxins slaframine and swainsonine, causing slobbers' symptoms and locoism of grazing animals, respectively. The genetics of this important fungus is poorly understood. This work aimed to develop a genetic transformation system and evaluate the efficacy of RNA interference (RNAi) in S. leguminicola. In this study, S. leguminicola was transformed using a PEG-mediated method with a fungal construct that carries a hygromycin resistance cassette...
September 20, 2017: World Journal of Microbiology & Biotechnology
https://www.readbyqxmd.com/read/28932969/primary-ovarian-insufficiency-in-classic-galactosemia-current-understanding-and-future-research-opportunities
#18
REVIEW
Mili Thakur, Gerald Feldman, Elizabeth E Puscheck
Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn screening. However, as children with galactosemia achieve adulthood, they face long-term complications. A majority of women with classic galactosemia develop primary ovarian insufficiency and resulting morbidity. The underlying pathophysiology of this complication is not clear...
September 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28932908/the-impact-of-specialized-palliative-care-on-cancer-patients-health-related-quality-of-life-a-systematic-review-and-meta-analysis
#19
REVIEW
Angelos P Kassianos, Myria Ioannou, Marianna Koutsantoni, Haris Charalambous
PURPOSE: Specialized palliative care (SPC) is currently underutilized or provided late in cancer care. The aim of this systematic review and meta-analysis is to critically evaluate the impact of SPC on patients' health-related quality of life (HRQoL). METHODS: Five databases were searched through June 2016. Randomized controlled trials (RCTs) and prospective studies using a pre- and post- assessment of HRQoL were included. The PRISMA reporting statement was followed...
September 20, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28932880/double-bundle-anatomical-medial-patellofemoral-ligament-reconstruction-with-lateral-retinaculum-plasty-can-lead-to-good-outcomes-in-patients-with-patellar-dislocation
#20
Yingzhen Niu, Xinmin Wang, Chang Liu, Xiaomeng Wang, Zhenyue Dong, Jinghui Niu, Fei Wang
PURPOSE: To evaluate the clinical outcomes of double-bundle anatomical medial patellofemoral ligament (MPFL) reconstruction combined with lateral retinaculum plasty versus isolated MPFL reconstruction for patellar dislocation. METHODS: From 2011 to 2013, 64 patients underwent either double-bundle anatomical MPFL reconstruction combined with lateral retinaculum plasty (Group A, 32 patients), or isolated MPFL reconstruction (Group B, 32 patients). Clinical evaluations were performed 2 years post-operatively and included determination of the number of patients with patellar redislocation, the patellar tilt angle, lateral patellar shift, subjective symptoms, and functional outcomes as evaluated with the Kujala score and Lysholm score...
September 20, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
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