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https://www.readbyqxmd.com/read/28716914/metabolic-profiles-of-exercise-in-patients-with-mcardle-disease-or-mitochondrial-myopathy
#1
Nigel F Delaney, Rohit Sharma, Laura Tadvalkar, Clary B Clish, Ronald G Haller, Vamsi K Mootha
McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28709831/clinical-impact-of-joabpeq-mental-health-scores-in-patients-with-low-back-pain-analysis-using-the-neuropathic-pain-screening-tool-paindetect
#2
Akihiko Hiyama, Hiroyuki Katoh, Daisuke Sakai, Masahiro Tanaka, Masato Sato, Masahiko Watanabe
BACKGROUND: In patients with low back pain (LBP) who combine psychosocial factors with clinical findings of pain, there is a possibility that the psychosocial factors modify the pain. In the current study, we investigated the relationship between the Japanese Orthopaedic Association Back Pain Evaluation Questionnaire (JOABPEQ) mental health score and the characteristics of LBP. METHODS: Of 650 patients with LBP, 319 were excluded, leaving 331 patients included in this study...
July 11, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28687693/adrenal-crisis-in-metastatic-breast-cancer
#3
Bernhard Doleschal, Andreas Petzer, Karl J Aichberger
A female patient with oestrogen receptor-positive and human epidermal growth factor receptor 2 (HER2)-positive invasive lobular breast cancer presented with progressive disease on CT scan. Some days after initiation of antineoplastic chemotherapy and anti-HER2 targeted antibody therapy, the patient presented with profuse diarrhoea, neutropaenia, nausea and weakness. Although Clostridium difficile was rapidly tackled as a causative agent of gastrointestinal complaints, clinical situation did not markedly improve despite proper antimicrobial treatment...
July 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28665518/increased-expression-of-tipe2-in-alternatively-activated-macrophages-is-associated-with-eosinophilic-inflammation-and-disease-severity-in-chronic-rhinosinusitis-with-nasal-polyps
#4
Yin Yao, Zhi-Chao Wang, Jin-Xin Liu, Jin Ma, Cai-Ling Chen, Yi-Ke Deng, Bo Liao, Nan Wang, Heng Wang, Qin Ning, Zheng Liu
BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a multifactorial disorder characterized by exaggerated local immune responses. Tumor necrosis factor-α-induced protein 8-like 2 (TIPE2) is a novel protein with potential immune modulating function. The expression and function of TIPE2 in human airway diseases are unclear. METHODS: The expression of TIPE2 in sinonasal mucosal samples was assessed by means of quantitative reverse transcript-polymerse chain reaction, immunohistochemistry, and Western blotting...
June 30, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28649892/are-we-exaggerating-neuropsychological-impairment-in-depression-reopening-a-closed-chapter
#5
Steffen Moritz, Katrin Stöckert, Marit Hauschildt, Hannah Lill, Lena Jelinek, Thomas Beblo, Sabrina Diedrich, Sönke Arlt
BACKGROUND: Meta-analyses conclude that individuals with depression display neurocognitive deficits. However, the extent to which some of these impairments occur due to secondary influences, and thus in part represent epiphenomena, has rarely been tested. Therefore, the authors examined the impact of performance motivation, attitude towards cognitive assessment, and momentary symptoms during assessment on neuropsychological test results in depression. RESEARCH DESIGN AND METHODS: Forty-five patients with depression and 60 nonclinical individuals underwent a comprehensive neuropsychological test battery...
June 26, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28624531/the-short-to-mid-term-symptom-prevalence-of-dumping-syndrome-after-primary-gastric-bypass-surgery-and-its-impact-on-health-related-quality-of-life
#6
Marloes Emous, Bruce H R Wolffenbuttel, Eric Totté, André P van Beek
BACKGROUND: Early and late dumping are complications of gastric bypass surgery. Early dumping occurs within an hour after eating, when the emptying of food into the small intestine triggers rapid fluid shifts into the intestinal lumen and the release of gastrointestinal hormones, resulting in gastrointestinal and vasomotor symptoms. Late dumping occurs between 1 and 3 hours after carbohydrate ingestion and is caused by an exaggerated insulin release, resulting in hypoglycemia. Almost no data are currently available on the prevalence of early and late dumping or their impact on health-related quality of life (QoL)...
April 28, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28624471/vitamin-e-antagonizes-ozone-induced-asthma-exacerbation-in-balb-c-mice-through-the-nrf2-pathway
#7
Liju Duan, Jinquan Li, Ping Ma, Xu Yang, Shunqing Xu
Millions of people are regularly exposed to ozone, a gas known to contribute significantly to worsening the symptoms of patients with asthma. However, the mechanisms underlying these ozone exacerbation effects are not fully understood. In this study, we examined the exacerbation effect of ozone in OVA-induced asthma mice and tried to demonstrate the protective mechanism of vitamin E (VE). An asthma mouse model was established, and used to identify the exacerbating effects of ozone by assessing cytokine and serum immunoglobulin concentrations, airway leukocyte infiltration, histopathological changes in lung tissues, and airway hyper-responsiveness...
June 15, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28608527/perfect-storm-therapeutic-plasma-exchange-for-a-patient-with-thyroid-storm
#8
Andrea M McGonigle, Aaron A R Tobian, Jennifer L Zink, Karen E King
Thyroid storm is a potentially lethal complication of hyperthyroidism with increased thyroid hormones and exaggerated symptoms of thyrotoxicosis. First-line therapy includes methimazole (MMI) or propylthiouracil (PTU) to block production of thyroid hormones as a bridge toward definitive surgical treatment. Untreated thyroid storm has a mortality rate of up to 30%; this is particularly alarming when patients cannot tolerate or fail pharmacotherapy, especially if they cannot undergo thyroidectomy. Therapeutic plasma exchange (TPE) is an ASFA category III indication for thyroid storm, meaning the optimum role of this therapy is not established, and there are a limited number of cases in the literature...
June 13, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28607173/tactile-defensiveness-and-impaired-adaptation-of-neuronal-activity-in-the-fmr1-knockout-mouse-model-of-autism
#9
Cynthia X He, Daniel A Cantu, Shilpa S Mantri, William A Zeiger, Anubhuti Goel, Carlos Portera-Cailliau
Sensory hypersensitivity is a common symptom in autism spectrum disorders (ASDs), including Fragile X Syndrome (FXS), and frequently leads to tactile defensiveness. In mouse models of ASDs, there is mounting evidence of neuronal and circuit hyperexcitability in several brain regions, which could contribute to sensory hypersensitivity. However, it is not yet known whether or how sensory stimulation might trigger abnormal sensory processing at the circuit level or abnormal behavioral responses in ASD mouse models, especially during an early developmental time when experience-dependent plasticity shapes such circuits...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28587984/abcb1a-but-not-abcg2-played-a-predominant-role-in-limiting-the-brain-distribution-of-huperzine-a-in-mice
#10
Jiajun Li, Mei Yue, Dandan Zhou, Meiyu Wang, Hongjian Zhang
Huperzine A has been used for improving symptoms of Alzheimer's disease. Its cholinergic side effect is thought to be an exaggerated pharmacological outcome linked to its high brain or CNS concentrations. Although Huperzine A is brain penetrable, its interaction with efflux transporters (ABCB1 and ABCG2) has not been fully investigated. The aim of the present study was to characterize roles of ABCB1 and ABCG2 in the transmembrane transport of Huperzine A and identify a rate limiting step in its brain distribution...
June 3, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28582479/restless-rest-intrinsic-sensory-hyperactivity-and-disinhibition-in-post-traumatic-stress-disorder
#11
Kevin Clancy, Mingzhou Ding, Edward Bernat, Norman B Schmidt, Wen Li
Post-traumatic stress disorder is characterized by exaggerated threat response, and theoretical accounts to date have focused on impaired threat processing and dysregulated prefrontal-cortex-amygdala circuitry. Nevertheless, evidence is accruing for broad, threat-neutral sensory hyperactivity in post-traumatic stress disorder. As low-level, sensory processing impacts higher-order operations, such sensory anomalies can contribute to widespread dysfunctions, presenting an additional aetiological mechanism for post-traumatic stress disorder...
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28559645/comorbidity-between-htlv-1-associated-adult-t-cell-lymphoma-leukemia-and-verrucous-carcinoma-a-case-report
#12
Miller Valencia, Luis Moreno
BACKGROUND: Adult T-cell Leukemia/Lymphoma (ATLL) is classified as a peripheral CD4+ T-cell neoplasm caused by the human T-cell lymphotropic virus type 1 (HTLV-1). Typical symptoms are associated with leukemic infiltration; however, atypical and exaggerated manifestations of verrucous carcinoma have also been described. CASE REPORT: We present here the case of a patient with multiple skin lesions, ischemic necrosis in the hallux and lymphadenopathies. Biopsies were taken, which showed verrucous epidermal carcinoma and cutaneous lymphoma...
March 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/28556998/sometimes-less-is-more-establishing-the-core-symptoms-of-ptsd
#13
Jessica L Walton, Lisa-Ann J Cuccurullo, Amanda M Raines, Desirae N Vidaurri, Nicholas P Allan, Kelly P Maieritsch, C Laurel Franklin
Historically, the symptoms of posttraumatic stress disorder (PTSD) have garnered attention and controversy due to symptom overlap with other disorders. To improve diagnostic specificity, researchers have proposed to reformulate PTSD symptoms into a parsimonious set of core criteria. The core symptoms consisted of recurrent distressing dreams or flashbacks; internal or external avoidance; and hypervigilance or exaggerated startle. The purpose of this study was to examine a previously proposed set of "core" PTSD criteria in identifying cases of PTSD within a veteran sample...
May 29, 2017: Journal of Traumatic Stress
https://www.readbyqxmd.com/read/28555535/family-environments-and-leukocyte-transcriptome-indicators-of-a-proinflammatory-phenotype-in-children-and-parents
#14
Theodore F Robles, Rena L Repetti, Bridget M Reynolds, Paul J Chung, Jesusa M G Arevalo, Steven W Cole
High conflict and low warmth in families may contribute to immune cells developing a tendency to respond to threats with exaggerated inflammation that is insensitive to inhibitory signaling. We tested associations between family environments and expression of genes bearing response elements for transcription factors that regulate inflammation: nuclear factor kappa B (NF-κB) and glucocorticoid receptor. The overall sample (47 families) completed interviews, questionnaires, and 8-week daily diary assessments of conflict and warmth, which were used to create composite family conflict and warmth scores...
May 30, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28539393/phencyclidine-pcp-administration-during-neurodevelopment-alters-network-activity-in-prefrontal-cortex-and-hippocampus-in-adult-rats
#15
Celia Kjaerby, Nanna Hovelsø, Nils Ole Dalby, Florence Sotty
Symptoms of schizophrenia have been linked to insults during neurodevelopment such as NMDA receptor antagonist exposure. In animal models, this leads to schizophrenia-like behavioral symptoms as well as molecular and functional changes within hippocampal and prefrontal regions. The aim of this study was to determine how administration with the NMDA receptor antagonist, phencyclidine (PCP), during neurodevelopment affects functional network changes within the hippocampus and medial prefrontal cortex (mPFC). We recorded field potentials in vivo following electrical brainstem stimulation and observed a suppression of evoked theta power in ventral hippocampus, while evoked gamma power in mPFC was enhanced in rats administered neonatally with PCP...
May 24, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28538743/pathophysiology-of-hidradenitis-suppurativa
#16
Lauren K Hoffman, Mondana H Ghias, Michelle A Lowes
The pathophysiology of hidradenitis suppurativa (HS) is not well understood. Some of our knowledge comes from clinical and epidemiological observations, along with studies of the histopathology and immunohistochemistry of affected skin. More recently, cutaneous molecular studies and transcriptomic analyses have provided additional information regarding inflammatory processes. The chronic cutaneous inflammation, systemic symptoms, and associated comorbidities suggest that HS should be classified as an immune-mediated disease, rather than a primary infectious disease...
June 2017: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28533287/trv0109101-a-g-protein-biased-agonist-of-the-%C3%A2%C2%B5-opioid-receptor-does-not-promote-opioid-induced-mechanical-allodynia-following-chronic-administration
#17
Michael Koblish, Richard Carr, Edward R Siuda, David H Rominger, William Gowen-MacDonald, Conrad L Cowan, Aimee L Crombie, Jonathan D Violin, Michael W Lark
Prescription opioids are a mainstay in the treatment of acute moderate to severe pain. However, chronic use leads to a host of adverse consequences including tolerance and opioid-induced hyperalgesia (OIH), leading to more complex treatment regimens and diminished patient compliance. Patients experiencing OIH paradoxically experience exaggerated nociceptive responses instead of pain reduction after chronic opioid usage. The development of OIH and tolerance tend to occur simultaneously and, thus, present a challenge when studying the molecular mechanisms driving each phenomenon...
May 22, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28503108/diagnosis-and-treatment-of-cyclothymia-the-primacy-of-temperament
#18
REVIEW
Giulio Perugi, Elie Hantouche, Giulia Vannucchi
BACKGROUND: Contrary to DSM-5 definition based on recurrence of low grade hypomanic and depressive symptoms, cyclothymia is better defined in a neurodevelopmental perspective as an exaggeration of cyclothymic temperament. Emotional dysregulation with extreme mood instability and reactivity is the core features of the complex symptomatology. METHOD: In the present article, we critically reviewed the literature on the diagnosis and treatment of cyclothymia, focusing on the temperamental and neurodevelopmental perspectives...
April 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28489651/the-impact-of-cervical-musculoskeletal-disorders-on-uk-consultant-plastic-surgeons-can-we-reduce-morbidity-with-applied-ergonomics
#19
Yvette Godwin, Christopher R Macdonald, Sarbjit Kaur, Li Zhelin, Christopher Baber
BACKGROUND: Based on anecdotal and observational evidence, we hypothesized that the prevalence of cervical musculoskeletal disorder (C-MSD) would be high among plastic surgeons. A questionnaire review was undertaken to test this hypothesis. Ergonomic assessment was undertaken to assess causal factors of C-MSD. METHOD: An anonymous questionnaire recording demographics, physical symptoms and behavioral responses to C-MSD was distributed to UK Plastic Surgery consultants...
June 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28482278/mania-risk-is-characterized-by-an-aberrant-optimistic-update-bias-for-positive-life-events
#20
Sandra Schönfelder, Johanna Langer, Eva Elisa Schneider, Michèle Wessa
BACKGROUND: Early cognitive models of mania posit that a cognitive triad consisting of unrealistically optimistic beliefs about the self, world and future may predispose vulnerable individuals to develop manic symptoms. Hypomanic personality traits (HYP) pose such a vulnerability factor in the etiopathogenesis of mania. METHODS: To test the cognitive tenet of overly optimistic views of the future, 24 individuals with high-HYP and 24 age- and sex-matched controls (low-HYP) performed a belief update paradigm, during which they estimated their personal chances to experience future positive and negative life events...
April 30, 2017: Journal of Affective Disorders
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