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https://www.readbyqxmd.com/read/28933418/biomarkers-in-lysosomal-storage-diseases
#1
REVIEW
Joaquin Bobillo Lobato, Maria Jiménez Hidalgo, Luis M Jiménez Jiménez
A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have been achieved, most notably with the introduction of enzyme replacement therapy (ERT). There are two main types of biomarkers. The first group is comprised of those molecules whose accumulation is directly enhanced as a result of defective lysosomal function...
December 17, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933415/integrative-systems-biology-investigation-of-fabry-disease
#2
Marco Fernandes, Holger Husi
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules...
November 15, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933412/genetic-substrate-reduction-therapy-a-promising-approach-for-lysosomal-storage-disorders
#3
REVIEW
Maria Francisca Coutinho, Juliana Inês Santos, Liliana Matos, Sandra Alves
Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysosomal digestion. Conventional therapeutic options include enzyme replacement therapy, an approach targeting the functional loss of the enzyme by injection of a recombinant one. Even though this is successful for some diseases, it is mostly effective for peripheral manifestations and has no impact on neuropathology...
November 9, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933359/a-prospective-treatment-option-for-lysosomal-storage-diseases-crispr-cas9-gene-editing-technology-for-mutation-correction-in-induced-pluripotent-stem-cells
#4
REVIEW
Chloe L Christensen, Francis Y M Choy
Ease of design, relatively low cost and a multitude of gene-altering capabilities have all led to the adoption of the sophisticated and yet simple gene editing system: clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9). The CRISPR/Cas9 system holds promise for the correction of deleterious mutations by taking advantage of the homology directed repair pathway and by supplying a correction template to the affected patient's cells. Currently, this technique is being applied in vitro in human-induced pluripotent stem cells (iPSCs) to correct a variety of severe genetic diseases, but has not as of yet been used in iPSCs derived from patients affected with a lysosomal storage disease (LSD)...
February 24, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28932990/treatment-opportunities-in-patients-with-metabolic-myopathies
#5
REVIEW
Mette Cathrine Ørngreen, John Vissing
Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described. Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options...
September 21, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#6
REVIEW
Lidia Gaffke, Karolina Pierzynowska, Ewa Piotrowska, Grzegorz Węgrzyn
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively...
September 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28918671/long-term-outcomes-of-severe-combined-immunodeficiency-therapy-implications
#7
Jennifer Heimall, Morton J Cowan
Newborn screening has led to a better understanding of the prevalence of Severe Combined Immunodeficiency (SCID) overall and in terms of specific genotypes. Survival has improved following hematopoietic stem cell transplantation (HCT) with the best outcomes seen following use of a matched sibling donor. However, questions remain regarding the optimal alternative donor source, appropriate use of conditioning and the impact of these decisions on immune reconstitution and other late morbidities. Areas covered: The currently available literature reporting late effects after HCT for SCID and use of alternative therapies including enzyme replacement, alternative donors and gene therapy are reviewed...
September 18, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28915335/ecm-related-myopathies-and-muscular-dystrophies-pros-and-cons-of-protein-therapies
#8
Pam M Van Ry, Tatiana M Fontelonga, Pamela Barraza-Flores, Apurva Sarathy, Andreia M Nunes, Dean J Burkin
Extracellular matrix (ECM) myopathies and muscular dystrophies are a group of genetic diseases caused by mutations in genes encoding proteins that provide critical links between muscle cells and the extracellular matrix. These include structural proteins of the ECM, muscle cell receptors, enzymes, and intracellular proteins. Loss of adhesion within the myomatrix results in progressive muscle weakness. For many ECM muscular dystrophies, symptoms can occur any time after birth and often result in reduced life expectancy...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28914856/-the-russian-consensus-on-the-diagnosis-and-treatment-of-chronic-pancreatitis-enzyme-replacement-therapy
#9
I E Khatkov, I V Maev, D S Bordin, Yu A Kucheryavyi, S R Abdulkhakov, S A Alekseenko, E I Alieva, R B Alikhanov, I G Bakulin, A Yu Baranovsky, E V Beloborodova, E A Belousova, I M Buriev, E V Bystrovskaya, S V Vertyankin, L V Vinokurova, E I Galperin, A V Gorelov, V B Grinevich, M V Danilov, V V Darvin, E A Dubtsova, T G Dyuzheva, V I Egorov, M G Efanov, N V Zakharova, V E Zagainov, V T Ivashkin, R E Izrailov, N V Korochanskaya, E A Kornienko, V L Korobka, N Yu Kokhanenko, M A Livzan, I D Loranskaya, K A Nikolskaya, M F Osipenko, A V Okhlobystin, V D Pasechnikov, E Yu Plotnikova, S I Polyakova, O A Sablin, V I Simanenkov, N I Ursova, V V Tsvirkun, V V Tsukanov, A V Shabunin
Pancreatology Club Professional Medical Community, 1A.S. Loginov Moscow Clinical Research and Practical Center, Moscow Healthcare Department, Moscow; 2A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia, Moscow; 3Kazan State Medical University, Ministry of Health of Russia, Kazan; 4Kazan (Volga) Federal University, Kazan; 5Far Eastern State Medical University, Ministry of Health of Russia, Khabarovsk; 6Morozov City Children's Clinical Hospital, Moscow Healthcare Department, Moscow; 7I...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28912050/pancreatic-enzyme-replacement-therapy-in-children-with-severe-acute-malnutrition-a-randomized-controlled-trial
#10
Rosalie H Bartels, Céline Bourdon, Isabel Potani, Brian Mhango, Deborah A van den Brink, John S Mponda, Anneke C Muller Kobold, Robert H Bandsma, Michael Boele van Hensbroek, Wieger P Voskuijl
OBJECTIVE: To assess the benefits of pancreatic enzyme replacement therapy (PERT) in children with complicated severe acute malnutrition. STUDY DESIGN: We conducted a randomized, controlled trial in 90 children aged 6-60 months with complicated severe acute malnutrition at the Queen Elizabeth Central Hospital in Malawi. All children received standard care; the intervention group also received PERT for 28 days. RESULTS: Children treated with PERT for 28 days did not gain more weight than controls (13...
September 11, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28904635/does-orthopaedic-surgery-improve-quality-of-life-and-function-in-patients-with-mucopolysaccharidoses
#11
N Williams, D Challoumas, D M Eastwood
PURPOSE: Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders associated with involvement of multiple organs along with a generalised skeletal dysplasia. Both haematopoetic stem cell transplant and enzyme replacement therapy have improved the outlook for patients while surgery remains high-risk and there is little information on clinical or functional outcome to justify many of the surgical procedures performed. This paper aims to summarise the orthopaedic surgical procedures in MPS patients for which quality of life (QoL) and functional data are available and to describe additional QoL and functional measurement tools of relevance to the assessment of orthopaedic outcomes in MPS...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28904329/latest-advances-in-the-efficacy-tolerability-and-monotherapy-of-integrase-inhibitors
#12
Qi Tang, Hongzhou Lu
More than 30 drugs for antiretroviral therapy (ART), including integrase inhibitors (INIs), have been approved by the U.S. Food and Drug Administration (FDA) as of 2017. Integrase is the third essential enzyme in the cycle of human immunodeficiency virus (HIV) replication. INIs can effectively inhibit the replication of HIV and HIV is less prone to develop resistance to INIs clinically. Previous studies based on 7 phase III clinic trials indicate that INIs have satisfactory efficacy and tolerability in patients infected with HIV...
2017: Bioscience Trends
https://www.readbyqxmd.com/read/28902790/impact-of-treatments-on-diabetic-control-and-gastrointestinal-symptoms-after-total-pancreatectomy
#13
Maarten R Struyvenberg, Zhi Ven Fong, Camilia R Martin, Jennifer F Tseng, Thomas E Clancy, Carlos Fernández-Del Castillo, Hanna J Tillman, Melena D Bellin, Steven D Freedman
OBJECTIVES: The aims of this study were to compare the safety, efficacy, and patients' quality of life with continuous subcutaneous insulin infusion (CSII) versus multiple daily injections (MDIs) in type 3c diabetes mellitus (T3cDM) following total pancreatectomy (TP) and pancreatic enzyme usage. METHODS: Thirty-nine patients with T3cDM (18 CSII patients vs 21 MDI patients) who underwent TP between 2000 and 2016 at 3 Harvard-affiliated hospitals and the University of Minnesota returned prospectively obtained questionnaires examining quality of life and both endocrine and exocrine pancreatic functions...
October 2017: Pancreas
https://www.readbyqxmd.com/read/28902785/predictors-of-pancreatic-cancer-associated-weight-loss-and-nutritional-interventions
#14
Laura Nemer, Somashekar G Krishna, Zarine K Shah, Darwin L Conwell, Zobeida Cruz-Monserrate, Mary Dillhoff, Denis C Guttridge, Alice Hinton, Andrei Manilchuk, Timothy M Pawlik, Carl R Schmidt, Erin E Talbert, Tanios Bekaii-Saab, Phil A Hart
OBJECTIVES: Pancreatic ductal adenocarcinoma (PDAC) is often accompanied by weight loss. We sought to characterize factors associated with weight loss and observed nutritional interventions, as well as define the effect of weight loss on survival. METHODS: Consecutive subjects diagnosed with PDAC (N = 123) were retrospectively evaluated. Univariate analysis was used to compare subjects with and without substantial (>5%) weight loss. Multivariate logistic regression was performed to identify factors associated with weight loss, and survival analyses were performed using Kaplan-Meier curves and Cox survival models...
October 2017: Pancreas
https://www.readbyqxmd.com/read/28902648/-fabry-disease-an-overlooked-diagnosis-in-adult-cardiac-patients
#15
Meral Kayıkçıoğlu, Evrim Şimşek, Sema Kalkan Uçar, Selen Bayraktaroğlu, Hüseyin Onay, Eser Sözmen, Mahmut Çoker
Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disease. Male patients are more severely affected; however, heterozygous female patients may also be afflicted, though often the symptoms develop later. Cardiac involvement can include left ventricular hypertrophy, conduction abnormalities, arrhythmias, valvular abnormalities, and heart failure...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#16
Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool...
July 2017: Electronic Physician
https://www.readbyqxmd.com/read/28892147/carpal-tunnel-syndrome-in-mucopolysaccharidosis-i-a-registry-based-cohort-study
#17
David Viskochil, Joseph Muenzer, Nathalie Guffon, Christophe Garin, M Veronica Munoz-Rojas, Kristin A Moy, Douglas T Hutchinson
AIM: To characterize carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I). METHOD: Data were included for patients with MPS I who had either nerve conduction examination that included a diagnosis of CTS or who had CTS release surgery. Although this represented a subset of patients with CTS in the MPS I Registry, the criteria were considered the most objective for data analysis. RESULTS: As of March 2016, 994 patients were categorized with either severe (Hurler syndrome) or attenuated (Hurler-Scheie or Scheie syndromes) MPS I...
September 11, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28888853/monitoring-guidance-for-patients-with-hypophosphatasia-treated-with-asfotase-alfa
#18
REVIEW
Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization, altered calcium and phosphate metabolism, recurrent fractures, pain, respiratory problems, impaired growth and mobility, premature tooth loss, developmental delay, and seizures...
July 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28887757/survival-in-idursulfase-treated-and-untreated-patients-with-mucopolysaccharidosis-type-ii-data-from-the-hunter-outcome-survey-hos
#19
Barbara K Burton, Virginie Jego, Jaromir Mikl, Simon A Jones
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a life-limiting, multisystemic disease with varying presentation and severity. Enzyme replacement therapy with intravenous idursulfase (EC 3.1.6.13) has been available since 2006. Data from the Hunter Outcome Survey (July 2016) were used to compare survival in idursulfase-treated (n = 800) and untreated (n = 95) male patients followed prospectively in this multinational, observational registry. Median age at symptom onset was similar for the treated and untreated groups (1...
September 8, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28884960/genotypic-phenotypic-features-and-enzyme-replacement-therapy-outcome-in-patients-with-mucopolysaccharidosis-vi-from-turkey
#20
Mustafa Kılıç, Ali Dursun, Turgay Coşkun, Ayşegül Tokatlı, Rıza K Özgül, Didem Yücel-Yılmaz, Mehmet Karaca, Deniz Doğru, Dursun Alehan, Sibel Kadayıfçılar, Aydan Genç, Handan Turan-Dizdar, Burhanettin Gönüldaş, Sema Savcı, Melda Sağlam, Cemalettin Aksoy, Umut Arslan, Hatice-Serap Sivri
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed...
September 8, 2017: American Journal of Medical Genetics. Part A
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