keyword
MENU ▼
Read by QxMD icon Read
search

Pompe disease

keyword
https://www.readbyqxmd.com/read/28932990/treatment-opportunities-in-patients-with-metabolic-myopathies
#1
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/28925476/late-onset-pompe-disease-in-a-54-year-old-sportsman-with-an-episode-of-syncope-a-case-report
#2
M Walczak-Galezewska, D Skrypnik, M Szulinska, K Musialik, K Skrypnik, P Bogdanski
Pompe disease is an extra-rare metabolic storage disease with deficiency of acid-alpha-glucosidase (GAA) enzyme activity, which leads to the pathologic accumulation of glycogen in target tissues (skeletal muscles, heart, brain). Clinical features and severity vary by the age of onset, rate of extent of organ involvement. In the late-onset Pompe disease (LOPD) form, essential cardiomyopathy seems to be uncommon. Muscles weakness and respiratory failure are the main symptoms of adult patient with Pompe disease...
August 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#3
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28900456/identification-a-novel-mononucleotide-deletion-mutation-in-gaa-in-pompe-disease-patients
#4
Milad Ebrahimi, Mahdieh Behnam, Nafiseh Behranvand-Jazi, Ladan Yari, Sajad Sheikh-Kanlomilan, Mansoor Salehi, Pardis Tahmasebi, Mohaddeseh Amini, Mohaddeseh Behjati, Nafisehsadat Hosseini
BACKGROUND: Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives. MATERIALS AND METHODS: In this cross-sectional study, GAA enzyme activity assay was assessed using tandem mass spectrometry. Polymerase chain reaction and Sanger sequencing were performed for GAA analysis. RESULTS: GAA enzyme activity was significantly decreased in patients compared to the normal range (P = 0...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28895054/a-neuron-specific-gene-therapy-relieves-motor-deficits-in-pompe-disease-mice
#5
Ni-Chung Lee, Wuh-Liang Hwu, Shin-Ichi Muramatsu, Darin J Falk, Barry J Byrne, Chia-Hao Cheng, Nien-Chu Shih, Kai-Ling Chang, Li-Kai Tsai, Yin-Hsiu Chien
In Pompe disease, deficient lysosomal acid α-glucosidase (GAA) activity causes glycogen accumulation in the muscles, which leads to weakness, cardiomyopathy, and respiratory failure. Although glycogen accumulation also occurs in the nervous system, the burden of neurological deficits in Pompe disease remains obscure. In this study, a neuron-specific gene therapy was administered to Pompe mice through intracerebroventricular injection of a viral vector carrying a neuron-specific promoter. The results revealed that gene therapy increased GAA activity and decreased glycogen content in the brain and spinal cord but not in the muscles of Pompe mice...
September 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#6
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/28891481/cardiac-manifestations-in-children-with-inborn-errors-of-metabolism
#7
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Athanasios Evangeliou
NEED AND PURPOSE: Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood. METHODS: Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design. Despite the small number of existing systematic studies on the topic, several case series/reports were identified...
August 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28884723/-first-cases-of-pompe-s-disease-in-kazakhstan
#8
N A Zharkinbekova, G A Mukhambetova, G S Kaishibayeva, B S Zhiyenbayeva, K B Zhumagulova, S N Kaishibayev, A E Iglikova, S Yu Suleimanova
The article presents the clinical observations of two newly diagnosed patients with Pompe disease in the Republic of Kazakhstan, confirmed by genetic research.
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28874182/long-term-neurologic-and-cardiac-correction-by-intrathecal-gene-therapy-in-pompe-disease
#9
J Hordeaux, L Dubreil, C Robveille, J Deniaud, Q Pascal, B Dequéant, J Pailloux, L Lagalice, M Ledevin, C Babarit, P Costiou, F Jamme, M Fusellier, Y Mallem, C Ciron, C Huchet, C Caillaud, M-A Colle
Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. The neurologic phenotype and the persistence of selective muscular weakness in some patients could be attributed to the central nervous system (CNS) storage uncorrected by ERT. GAA-KO 6neo/6neo mice were treated with a single intrathecal administration of adeno-associated recombinant vector (AAV) mediated gene transfer of human GAA at 1 month and their neurologic, neuromuscular, and cardiac function was assessed for 1 year...
September 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28856460/late-onset-pompe-disease-a-genetic-radiological-correlation-on-cerebral-vascular-anomalies
#10
A Pichiecchio, S Sacco, P De Filippi, E Caverzasi, S Ravaglia, S Bastianello, C Danesino
Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues. Several reports suggest a higher incidence of intracranial vascular abnormalities (IVAs) in this condition, as well as brain microbleeds and cerebral vasculopathy. The aim of our study was to evaluate through neuroimaging studies the incidence of these anomalies in our cohort of late-onset Pompe disease (LOPD) patients asymptomatic for cerebrovascular disease, looking for correlations with clinical and genetic data...
August 30, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28852955/increased-metabolic-benefit-for-obese-elderly-patients-undergoing-roux-en-y-gastric-bypass-vs-sleeve-gastrectomy
#11
Katherine D Gray, Maureen D Moore, Omar Bellorin, Jonathan S Abelson, Gregory Dakin, Rasa Zarnegar, Alfons Pomp, Cheguevara Afaneh
PURPOSE: We sought to assess outcomes of laparoscopic sleeve gastrectomy (LSG) vs laparoscopic Roux-en-Y gastric bypass (LRYGB) in a cohort of morbidly obese, elderly patients. MATERIALS AND METHODS: Retrospective review was conducted of all patients age 60 years or greater undergoing LSG or LRYGB at our institution between 2007 and 2014. RESULTS: A total of 134 patients who underwent LSG (n = 65) or LRYGB (n = 69) were identified. Groups were similar with respect to age (64 years, range 60-75 years), BMI (44...
August 29, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28838325/a-study-on-the-safety-and-efficacy-of-reveglucosidase-alfa-in-patients-with-late-onset-pompe-disease
#12
Barry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system...
August 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28832912/screening-for-late-onset-pompe-disease-in-western-denmark
#13
J S Hansen, E G Pedersen, D Gaist, F W Bach, O J Vilholm, B Sandal, L Weitemeyer, K Nielsen, F E Schlesinger, N Preisler, J Vissing, H Andersen
OBJECTIVE: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics in Denmark, three patients with LOPD were identified out of 103 patients screened. No systematic screening has been performed at the other neurological departments in the western part of Denmark. Thus, patients with a diagnosis of unspecified myopathy were screened for LOPD...
August 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28828530/long-term-oncological-outcomes-in-patients-with-limited-nodal-disease-undergoing-radical-prostatectomy-and-pelvic-lymph-node-dissection-without-adjuvant-treatment
#14
Philipp Mandel, Clemens Rosenbaum, Raisa S Pompe, Thomas Steuber, Georg Salomon, Felix K Chun, Markus Graefen, Hartwig Huland, Derya Tilki
PURPOSE: This study aimed at analysing long-term oncologic outcomes in prostate cancer patients with limited nodal disease (1-2 positive lymph nodes) without adjuvant therapy after radical prostatectomy (RP). METHODS: We retrospectively analysed data of 209 pN1 patients who underwent RP between January 1998 and 2010 with one (160) or two (49) histologically proven positive lymph nodes (LNs) without adjuvant treatment. Biochemical recurrence-free survival, metastasis-free survival and cancer-specific survival (CSS) were reported...
August 21, 2017: World Journal of Urology
https://www.readbyqxmd.com/read/28814660/sustained-immune-tolerance-induction-in-enzyme-replacement-therapy-treated-crim-negative-patients-with-infantile-pompe-disease
#15
Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, R Bradley Troxler, Raymond Y Wang, Omar A Abdul-Rahman, Pranoot Tanpaiboon, Nancy J Mendelsohn, Eli Herskovitz, David Kronn, Michal Inbar-Feigenberg, Catherine Ward-Melver, Michelle Polan, Punita Gupta, Amy S Rosenberg, Priya S Kishnani
BACKGROUND: Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic immune tolerance induction (ITI) with rituximab, methotrexate, and IVIG successfully prevents development of deleterious rhGAA IgG antibodies; however, safety, likelihood of success, and long-term efficacy of ITI in a larger cohort remain unknown...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28801758/prkag2-mutations-presenting-in-infancy
#16
Rachel D Torok, Stephanie L Austin, Chanika Phornphutkul, Kathleen M Rotondo, Deeksha Bali, Gregory H Tatum, Stephanie B Wechsler, Anne F Buckley, Priya S Kishnani
PRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations in PRKAG2 cause a cardiac syndrome comprising ventricular hypertrophy, pre-excitation, and progressive conduction-system disease, which is typically not diagnosed until adolescence or young adulthood. However, significant variability exists in the presentation and outcomes of patients with PRKAG2 mutations, with presentation in infancy being underrecognized. The diagnosis of PRKAG2 can be challenging in infants, and we describe our experience with three patients who were initially suspected to have Pompe disease yet ultimately diagnosed with mutations in PRKAG2...
August 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28763149/three-cases-of-multi-generational-pompe-disease-are-current-practices-missing-diagnostic-and-treatment-opportunities
#17
Paul McIntosh, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil, Priya S Kishnani
Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband...
August 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28761815/a-pilot-study-on-using-rapamycin-carrying-synthetic-vaccine-particles-svp-in-conjunction-with-enzyme-replacement-therapy-to-induce-immune-tolerance-in-pompe-disease
#18
Han-Hyuk Lim, Haiqing Yi, Takashi K Kishimoto, Fengqin Gao, Baodong Sun, Priya S Kishnani
A major obstacle to enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) for Pompe disease is the development of high titers of anti-rhGAA antibodies in a subset of patients, which often leads to a loss of treatment efficacy. In an effort to induce sustained immune tolerance to rhGAA, we supplemented the rhGAA therapy with a weekly intravenous injection of synthetic vaccine particles carrying rapamycin (SVP-Rapa) during the first 3 weeks of a 12-week course of ERT in GAA-KO mice, and compared this with three intraperitoneal injections of methotrexate (MTX) per week for the first 3 weeks...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28754168/improvement-of-bone-mineral-density-after-enzyme-replacement-therapy-in-chinese-late-onset-pompe-disease-patients
#19
Bun Sheng, Yim Pui Chu, Wa Tai Wong, Eric Kin Cheong Yau, Sammy Pak Lam Chen, Wing Hang Luk
OBJECTIVE: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients...
July 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28747428/sequence-exchange-between-homologous-nb-lrr-genes-converts-virus-resistance-into-nematode-resistance-and-vice-versa
#20
Erik Slootweg, Kamila Koropacka, Jan Roosien, Robert Dees, Hein Overmars, Rene Klein Lankhorst, Casper van Schaik, Rikus Pomp, Liesbeth Bouwman, Johannes Helder, Arjen Schots, Jaap Bakker, Geert Smant, Aska Goverse
Plants have evolved a limited repertoire of NB-LRR disease resistance (R) genes to protect themselves against myriad pathogens. This limitation is thought to be counterbalanced by the rapid evolution of NB-LRR proteins, as only a few sequence changes have been shown to be sufficient to alter resistance specificities toward novel strains of a pathogen. However, little is known about the flexibility of NB-LRR R genes to switch resistance specificities between phylogenetically unrelated pathogens. To investigate this, we created domain swaps between the close homologs Gpa2 and Rx1, which confer resistance in potato (Solanum tuberosum) to the cyst nematode Globodera pallida and Potato virus X, respectively...
September 2017: Plant Physiology
keyword
keyword
96753
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"