Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome; OMIM 253000) is a rare autosomal-recessive inherited disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency which leads to excessive lysosomal storage of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate in various tissues and organs. The clinical manifestations include corneal clouding, hearing loss, valvular heart disease, systemic skeletal chondrodysplasia, malformation of the thorax that impairs respiratory function, short stature, joint abnormalities with limitations in mobility and endurance, odontoid hypoplasia and ligamentous laxity, cervical spinal instability and potentially cord compression.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Short Communication Source Type: research

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Authors: Chen F, You Y, Ding P, Wu K, Mo X Abstract Objectives: We studied inflammatory marker changes with ultrafiltration extracorporeal techniques and compared these levels to those occurring during conventional techniques. Methods: Seventy-four children undergoing extracorporeal circulation during congenital heart surgery were divided into two groups-conventional (control) and balanced ultrafiltrations (study). Serum interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), and soluble intercellular adhesion molecule-1 (sICAM-1), static lung compliance (Cstat), alveolar-arterial oxygen partial pressure...
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research
Anti-inflammatory compounds from this delicious food dampen the risk of heart disease and stroke. → Support PsyBlog for just $4 per month. Enables access to articles marked (M) and removes ads. → Explore PsyBlog's ebooks, all written by Dr Jeremy Dean: Accept Yourself: How to feel a profound sense of warmth and self-compassion The Anxiety Plan: 42 Strategies For Worry, Phobias, OCD and Panic Spark: 17 Steps That Will Boost Your Motivation For Anything Activate: How To Find Joy Again By Changing What You Do
Source: PsyBlog | Psychology Blog - Category: Psychiatry & Psychology Authors: Tags: Psychology Source Type: blogs
Publication date: Available online 14 September 2019Source: Biochimica et Biophysica Acta (BBA) - General SubjectsAuthor(s): James J. Miller, Adam J. Kanack, Nancy M. DahmsAbstractBackgroundFabry disease is caused by α-galactosidase A deficiency. Substrates of this lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience neuropathic pain, kidney failure, heart disease, and strokes.Scope of reviewThe clinical picture and molecular features of Fabry disease are described, along with updates on disease mechanisms, animal models, and therapies.Major conclusionsHow the accumulation of α-ga...
Source: Biochimica et Biophysica Acta (BBA) General Subjects - Category: Biochemistry Source Type: research
In this study, researchers studied 438,952 participants in the UK Biobank, who had a total of 24,980 major coronary events - defined as the first occurrence of non-fatal heart attack, ischaemic stroke, or death due to coronary heart disease. They used an approach called Mendelian randomisation, which uses naturally occurring genetic differences to randomly divide the participants into groups, mimicking the effects of running a clinical trial. People with genes associated with lower blood pressure, lower LDL cholesterol, and a combination of both were put into different groups, and compared against those without thes...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Publication date: October 2019Source: Biomedicine &Pharmacotherapy, Volume 118Author(s): YuZhen Li, XiuHua LiuAbstractApoptosis is an evolutionarily conserved suicide process. It plays critical roles in the development and homeostasis of cardiac tissues. However, excessively stimulated apoptotic activity induced by a myriad of deleterious stimuli can result in too much cardiomyocyte death. The regenerative potential of the adult cardiomyocytes is limited. The cardiomyocyte loss cannot be compensated by efficient cell proliferation. It inevitably leads to various heart diseases. Therefore, the inhibition of cardiomyocyt...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
In this study, a marked decrease in the incidence of lung cancer (a 67% relative risk reduction) was observed in a high-risk population. Although a number of preclinical studies have demonstrated that canakinumab inhibits interleukin-1β and reduces inflammation, the question remains whether these actions positively affect both cancer incidence and recurrence. This review will summarize the role of inflammation in cancer propagation and development, discuss the biological rationale for targeting interleukin-1β in lung cancer, advocate for further investigation of the anti-inflammatory antibody canakinumab as a new...
Source: Anti-Cancer Drugs - Category: Cancer & Oncology Tags: Review Article Source Type: research
Conclusion Cardiac involvement is a rare and hitherto less well-studied occurrence in neuroendocrine tumours, with an incidence in the range of 1%. To assess the possible prognostic implications, further detailed multicentre studies are required.
Source: Nuclear Medicine Communications - Category: Nuclear Medicine Tags: BNMS Communication Source Type: research
ConclusionsIn this phase 1 trial, direct intramyocardial injection of autologous BMSCs in conjunction with TMR or CABG was technically feasible and could be performed safely. Preliminary results demonstrate improved cardiac function and quality of life in patients at one year after treatment.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
Authors: Ma W, Lv L, Guo J, Meng Y, Wang Y, Yang X, Zhu L, Nian H, Zhao L Abstract The aim of this study was to examine whether Xuesaitong, a multiherbal formulation for coronary heart disease, alters the pharmacokinetics of losartan. Adult male Sprague Dawley rats randomly received losartan (10 mg/kg) or losartan plus Xuesaitong (10 mg/kg) through an oral gavage (n = 6). Multiple blood samples were obtained for up to 36 h to determine the concentrations of losartan and its active metabolite, EXP3174, through ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Obesity along with smoking, poor diet, heavy alcohol use, and sedentary lifestyle are major causes of premature death. A number of observational studies have indicated that a high body mass index (BMI) is associated with an increased risk of coronary heart disease. However, the causal association between BMI and several other cardiovascular diseases, in particular aortic valve stenosis, was unknown.
Source: European Heart Journal - Category: Cardiology Source Type: research
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