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https://www.readbyqxmd.com/read/28937538/severe-neonatal-cholestasis-in-cerebrotendinous-xanthomatosis-genetics-immunostaining-mass-spectrometry
#1
Jing-Yu Gong, Kenneth D R Setchell, Jing Zhao, Wujuan Zhang, Brian Wolfe, Yi Lu, Karolin Lackner, A S Knisely, Neng-Li Wang, Chen-Zhi Hao, Mei-Hong Zhang, Jian-She Wang
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The very rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Our experience differs. METHODS: Homozygous or compound heterozygous CYP27A1 mutations were detected in 8 neonatal cholestasis patients by whole exome sequencing, panel sequencing, or Sanger sequencing...
September 20, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28937503/patient-burden-of-axial-spondyloarthritis
#2
Vibeke Strand, Jasvinder A Singh
Axial spondyloarthritis (AxSpA) is an inflammatory spondyloarthritis (SpA) that has significant impact on a patient's life. Symptoms, including fatigue, sleep problems, depression, and sexual dysfunction, can profoundly impact health-related quality of life (HRQoL) and limit work, leisure, and daily activities. Available therapies effectively manage pain and inflammation in early-stage disease, but patients often continue to experience impaired HRQoL. Thus, there remains a need for new therapies with novel mechanisms that can stop disease progression, potentially reverse damage caused by AxSpA and improve HRQoL in patients with AxSpA...
September 21, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28937474/patient-burden-of-axial-spondyloarthritis
#3
Vibeke Strand, Jasvinder A Singh
Axial spondyloarthritis (AxSpA) is an inflammatory spondyloarthritis (SpA) that has significant impact on a patient's life. Symptoms, including fatigue, sleep problems, depression, and sexual dysfunction, can profoundly impact health-related quality of life (HRQoL) and limit work, leisure, and daily activities. Available therapies effectively manage pain and inflammation in early-stage disease, but patients often continue to experience impaired HRQoL. Thus, there remains a need for new therapies with novel mechanisms that can stop disease progression, potentially reverse damage caused by AxSpA and improve HRQoL in patients with AxSpA...
October 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28935293/designing-safer-analgesics-via-%C3%AE-opioid-receptor-pathways
#4
REVIEW
H C Stephen Chan, Dillon McCarthy, Jianing Li, Krzysztof Palczewski, Shuguang Yuan
Pain is both a major clinical and economic problem, affecting more people than diabetes, heart disease, and cancer combined. While a variety of prescribed or over-the-counter (OTC) medications are available for pain management, opioid medications, especially those acting on the μ-opioid receptor (μOR) and related pathways, have proven to be the most effective, despite some serious side effects including respiration depression, pruritus, dependence, and constipation. It is therefore imperative that both academia and industry develop novel μOR analgesics which retain their opioid analgesic properties but with fewer or no adverse effects...
September 18, 2017: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/28934669/transforming-growth-factor-beta-tgf-%C3%AE-mediates-cardiac-fibrosis-and-induces-diabetic-cardiomyopathy
#5
REVIEW
Yiyang Yue, Ke Meng, Yuejie Pu, Xiaoming Zhang
Cardiovascular diseases account for the major cause of morbidity and mortality among individuals with diabetes. The diabetic cardiomyopathy (DCM) is a type of diabetic cardiovascular disease, which further directs to the heart failure. The researchers found that diabetes induced cardiac fibrosis plays a vital role in several of the pathological changes that associated with DCM, causing left ventricular hypertrophy (LVH), diastolic dysfunction and systolic dysfunction. However, the mechanisms involved in the pathogenesis of DCM are still elusive...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28933616/are-newly-launched-pharmacotherapies-efficacious-in-treating-idiopathic-pulmonary-fibrosis-or-is-there-still-more-work-to-be-done
#6
Riccardo Inchingolo, Carola Condoluci, Andrea Smargiassi, Annelisa Mastrobattista, Cristina Boccabella, Alessia Comes, Nicoletta Golfi, Luca Richeldi
Idiopathic pulmonary fibrosis (IPF) is a challenging and multifactorial disease that has been thought for some time to lack effective treatments. The approval of two drugs, nintedanib and pirfenidone, has heralded a new era in its management. Areas covered: Currently, there is a growing interest on therapeutic strategies. Many studies have been designed and performed, although few of them turned out to be successful. Nowadays, nintedanib and pirfenidone are considered disease modifying drugs, recommended treatments by current evidence-based guidelines...
September 21, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28933272/evaluation-of-metabolic-and-synaptic-dysfunction-hypotheses-of-alzheimer-s-disease-ad-a-meta-analysis-of-csf-markers
#7
Roni Manyevitch, Matthew Protas, Sean Scarpiello, Marisa Deliso, Brittany Bass, Anthony Nanajian, Matthew Chang, Stefani M Thompson, Neil Khoury, Rachel Gonnella, Margit Trotz, D Blaine Moore, Emily Harms, George Perry, Lucy Clunes, Angélica Ortiz, Jan O Friedrich, Ian V J Murray
BACKGROUND: Alzheimer's disease (AD) is currently incurable and a majority of investigational drugs have failed clinical trials. One explanation for this failure may be the invalidity of hypotheses focusing on amyloid to explain AD pathogenesis. Recently, hypotheses which are centered on synaptic and metabolic dysfunction are increasingly implicated in AD. OBJECTIVE: Evaluate AD hypotheses by comparing neurotransmitter and metabolite marker concentrations in normal versus AD CSF...
September 21, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28932020/role-of-the-cysteinyl-leukotrienes-in-the-pathogenesis-and-progression-of-cardiovascular-diseases
#8
REVIEW
Francesca Colazzo, Paolo Gelosa, Elena Tremoli, Luigi Sironi, Laura Castiglioni
Cysteinyl leukotrienes (CysLTs) are potent lipid inflammatory mediators synthesized from arachidonic acid, through the 5-lipoxygenase (5-LO) pathway. Owing to their properties, CysLTs play a crucial role in the pathogenesis of inflammation; therefore, CysLT modifiers as synthesis inhibitors or receptor antagonists, central in asthma management, may become a potential target for the treatment of other inflammatory diseases such as the cardiovascular disorders. 5-LO pathway activation and increased expression of its mediators and receptors are found in cardiovascular diseases...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28930861/targeted-gene-panel-sequencing-for-early-onset-inflammatory-bowel-disease-and-chronic-diarrhea
#9
Britt-Sabina Petersen, Dietrich August, Renate Abt, Moudjahed Alddafari, Lida Atarod, Safa Baris, Hemant Bhavsar, Florian Brinkert, Mary Buchta, Alla Bulashevska, Ronnie Chee, Ana I Cordeiro, Naghi Dara, Gregor Dückers, Aisha Elmarsafy, Natalie Frede, Nermeen Galal, Patrick Gerner, Erik-Oliver Glocker, Sigune Goldacker, Jutta Hammermann, Peter Hasselblatt, Zuzana Havlicekova, Katrin Hübscher, Milos Jesenak, Neslihan E Karaca, Elif Karakoc-Aydiner, Mahboubeh M Kharaghani, Sara S Kilic, Ayca Kiykim, Christoph Klein, Christian Klemann, Robin Kobbe, Daniel Kotlarz, Martin W Laass, T Ronan Leahy, Mehrnaz Mesdaghi, Sally Mitton, João F Neves, Birol Öztürk, Luis F Pereira, Jan Rohr, Jessica L R Restrepo, Gunda Ruzaike, Nadia Saleh, Suranjith Seneviratne, Ebru Senol, Carsten Speckmann, Daniel Tegtmeyer, Paul Thankam, Jutte van der Werff Ten Bosch, Horst von Bernuth, Sebastian Zeissig, Yvonne Zeissig, Andre Franke, Bodo Grimbacher
BACKGROUND: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients...
September 19, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28930591/lipoprotein-a-and-cardiovascular-disease-current-state-and-future-directions-for-an-enigmatic-lipoprotein
#10
Anum Saeed, Salim S Virani
Lipoprotein (a) (Lp (a)) is a complex polymorphic lipoprotein. Although structurally similar to low-density lipoprotein, Lp(a) has a glycoprotein, apolipoprotein(a) (apo(a)), attached to the apolipoprotein B-100 component. Several unique properties of Lp(a) can be attributed to the presence of apo(a). Several decades of research has improved our understanding of the structure, biochemistry, and pathophysiology of Lp(a) associated diseases. Genetic, epidemiological, and translational data indicate that elevated Lp(a) levels are likely in the causal pathway for atherosclerotic cardiovascular diseases as well as calcification of the aortic valves...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28929282/anoperineal-lesions-in-crohn-s-disease-french-recommendations-for-clinical-practice
#11
REVIEW
D Bouchard, L Abramowitz, G Bouguen, C Brochard, A Dabadie, V de Parades, M Eléouet-Kaplan, N Fathallah, J-L Faucheron, L Maggiori, Y Panis, F Pigot, P Rouméguère, A Sénéjoux, L Siproudhis, G Staumont, J-M Suduca, B Vinson-Bonnet, J-D Zeitoun
BACKGROUND: Anoperineal lesion (APL) occurrence is a significant event in the evolution of Crohn's disease (CD). Management should involve a multidisciplinary approach combining the knowledge of the gastroenterologist, the colorectal surgeon and the radiologist who have appropriate experience in this area. Given the low level of evidence of available medical and surgical strategies, the aim of this work was to establish a French expert consensus on management of anal Crohn's disease. These recommendations were led under the aegis of the Société Nationale Française de Colo-Proctologie (SNFCP)...
September 19, 2017: Techniques in Coloproctology
https://www.readbyqxmd.com/read/28928733/crosstalk-between-signaling-pathways-in-pemphigus-a-role-for-endoplasmic-reticulum-stress-in-p38-mitogen-activated-protein-kinase-activation
#12
Gabriel A Cipolla, Jong Kook Park, Robert M Lavker, Maria Luiza Petzl-Erler
Pemphigus consists of a group of chronic blistering skin diseases mediated by autoantibodies (autoAbs). The dogma that pemphigus is caused by keratinocyte dissociation (acantholysis) as a distinctive and direct consequence of the presence of autoAb targeting two main proteins of the desmosome-desmoglein (DSG) 1 and/or DSG3-has been put to the test. Several outside-in signaling events elicited by pemphigus autoAb in keratinocytes have been described, among which stands out p38 mitogen-activated protein kinase (p38 MAPK) engagement and its apoptotic effect on keratinocytes...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28928423/use-of-an-individual-based-model-to-control-transmission-pathways-of-mycobacterium-avium-subsp-paratuberculosis-infection-in-cattle-herds
#13
M A Al-Mamun, R L Smith, Y H Schukken, Y T Gröhn
Johne's disease (JD) is a chronic enteric disease in cattle caused by Mycobacterium avian subsp. paratuberculosis (MAP). Eradicating JD is a difficult task due to the long incubation period of MAP, inefficient diagnostic tests, and delayed clinical signs. Effective control strategies can help farmers to reduce prevalence, but those most acceptable to farmers combine specific information about lactation performance and testing results, which existing models do not provide. This paper presents an individual-based model of MAP infection dynamics and assesses the relative performance of the applied alternative control strategies...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28927429/the-impact-of-lipoprotein-lipase-deficiency-on-health-related-quality-of-life-a-detailed-structured-qualitative-study
#14
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S Wierzbicki, Handrean Soran
BACKGROUND: Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. METHODS: The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30-45-min follow-up telephone interview...
September 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28926725/association-between-x-ray-repair-cross-complementing-group-1-xrcc1-arg399gln-polymorphism-and-endometriosis-a-systematic-review-and-meta-analysis
#15
Mo-Qi Lv, Jin Wang, Xiao-Qing Yu, Hui-Hui Hong, Wen-Juan Ren, Pang Ge, Dang-Xia Zhou
OBJECTIVE(S): X-ray repair cross-complementing group 1(XRCC1) gene is one of the DNA repair pathway genes playing a vital role in endometriosis risk. Various studies have explored the association between them, however, the results remained inconsistent. So to confirm the association between XRCC1 Arg399Gln polymorphism and the risk of endometriosis, a meta-analysis was conducted. STUDY DESIGN: PubMed, Web of Science, Science Director, Cochrane Library, Google Scholar, China National Knowledge Infrastructure (CNKI) and Wanfang Data databases were searched to identify the all relevant studies before Sep...
September 14, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28926471/role-of-fat-soluble-vitamins-in-osteoarthritis-management
#16
Xiao-Yan Zheng, Jun Liang, Yu-Sheng Li, Min Tu
Osteoarthritis (OA) is a chronic degenerative joint disease, in which metabolic imbalance in bone is observed. The pathological mechanism of metabolic imbalance is not clear yet, but the nutritional factors, particularly the vitamins, might be intrinsic to the development and progression of OA. In this review article, we have explored databases such as PubMed, Scopus, and Google Scholar articles until the beginning of 2017 and reviewed the role of fat-soluble vitamins in pathological and therapeutic aspects of OA...
September 19, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28924245/understanding-the-factors-affecting-self-management-of-copd-from-the-perspectives-of-healthcare-practitioners-a-qualitative-study
#17
Oladapo J Ogunbayo, Sian Russell, James J Newham, Karen Heslop-Marshall, Paul Netts, Barbara Hanratty, Eileen Kaner
Self-management is recognised as an essential criteria for the provision of high quality care for chronic obstructive pulmonary disease (COPD). The management of COPD is usually delivered by a wide range of healthcare practitioners. This study aimed to understand the factors affecting self-management of COPD from the perspectives of the different multidisciplinary healthcare teams involved in COPD care. Semi-structured interviews were conducted with participants from primary care, specialist respiratory and pulmonary rehabilitation (PR) teams...
September 18, 2017: NPJ Primary Care Respiratory Medicine
https://www.readbyqxmd.com/read/28923905/acute-coronary-syndromes-the-way-forward-from-mechanisms-to-precision-treatment
#18
REVIEW
Filippo Crea, Peter Libby
Well into the 21st century, we still triage acute myocardial infarction on the basis of the presence or absence of ST-segment elevation, a century-old technology. Meanwhile, we have learned a great deal about the pathophysiology and mechanisms of acute coronary syndromes (ACS) at the clinical, pathological, cellular, and molecular levels. Contemporary imaging studies have shed new light on the mechanisms of ACS. This review discusses these advances and their implications for clinical management of the ACS for the future...
September 19, 2017: Circulation
https://www.readbyqxmd.com/read/28922979/a-review-of-drug-drug-interactions-in-older-hiv-infected-patients
#19
Aarthi Chary, Nancy N Nguyen, Kimberly Maiton, Mark Holodniy
The number of older HIV-infected people is growing due to increasing life expectancies resulting from the use of antiretroviral therapy (ART). Both HIV and aging increase the risk of other comorbidities, such as cardiovascular disease, osteoporosis, and some malignancies, leading to greater challenges in managing HIV with other conditions. This results in complex medication regimens with the potential for significant drug-drug interactions and increased morbidity and mortality. Area covered: We review the metabolic pathways of ART and other medications used to treat medical co-morbidities, highlight potential areas of concern for drug-drug interactions, and where feasible, suggest alternative approaches for treating these conditions as suggested from national guidelines or articles published in the English language...
September 19, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#20
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
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