keyword
MENU ▼
Read by QxMD icon Read
search

Pompe

keyword
https://www.readbyqxmd.com/read/28528115/alcohol-and-other-substance-use-after-bariatric-surgery-prospective-evidence-from-a-u-s-multicenter-cohort-study
#1
Wendy C King, Jia-Yuh Chen, Anita P Courcoulas, Gregory F Dakin, Scott G Engel, David R Flum, Marcelo W Hinojosa, Melissa A Kalarchian, Samer G Mattar, James E Mitchell, Alfons Pomp, Walter J Pories, Kristine J Steffen, Gretchen E White, Bruce M Wolfe, Susan Z Yanovski
BACKGROUND: Empirical evidence suggests Roux-en-Y gastric bypass (RYGB) increases risk of developing alcohol use disorder (AUD). However, prospective assessment of substance use disorders (SUD) after bariatric surgery is limited. OBJECTIVE: To report SUD-related outcomes after RYGB and laparoscopic adjustable gastric banding (LAGB). To identify factors associated with incident SUD-related outcomes. SETTING: 10 U.S. hospitals METHODS: The Longitudinal Assessment of Bariatric Surgery-2 is a prospective cohort study...
March 31, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28506524/contemporary-incidence-and-cancer-control-outcomes-of-primary-neuroendocrine-prostate-cancer-a-seer-database-analysis
#2
Emanuele Zaffuto, Raisa Pompe, Marc Zanaty, Helen Davis Bondarenko, Sami-Ramzi Leyh-Bannurah, Marco Moschini, Paolo Dell'Oglio, Giorgio Gandaglia, Nicola Fossati, Armando Stabile, Kevin C Zorn, Francesco Montorsi, Alberto Briganti, Pierre I Karakiewicz
INTRODUCTION: Neuroendocrine carcinoma of the prostate (NEPC) is a rare entity. We aimed at providing contemporary data on incidence and survival figures of de-novo NEPC. MATERIALS AND METHODS: Within the Surveillance, Epidemiology, and End Results (SEER) database, we identified 309 individuals with de-novo NEPC diagnosed between 2004 and 2013. We evaluated age-adjusted incidence rates over the study. Kaplan-Meier analyses assessed overall survival (OS) after stratification according to histologic subtype, metastatic status, and treatment...
April 13, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28499810/prevalence-of-late-onset-pompe-disease-in-portuguese-patients-with-diaphragmatic-paralysis-dipper-study
#3
M J Guimarães, J C Winck, B Conde, A Mineiro, M Raposo, J Moita, A Marinho, J M Silva, N Pires, S André, C Loureiro
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes...
May 9, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28495044/cognitive-and-academic-outcomes-in-long-term-survivors-of-infantile-onset-pompe-disease-a-longitudinal-follow-up
#4
Gail A Spiridigliozzi, Lori A Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, Priya S Kishnani
This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early age. All participants (7 males, 4 females) were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure of visual-motor integration ability (Beery-Buktenica)...
May 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28490439/skeletal-muscle-metabolism-during-prolonged-exercise-in-pompe-disease
#5
Nicolai Preisler, Pascal Laforet, Karen Lindhardt Madsen, Edith Husu, Christoffer Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
OBJECTIVE: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. In spite of enzyme replacement therapy, Pompe disease continues to be a progressive metabolic myopathy. Considering the health benefits of exercise, it is important in Pompe disease to acquire more information about muscle substrate use during exercise. METHODS: Seven adults with Pompe disease were matched to a healthy control group (1:1)...
May 10, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28480166/albuterol-as-an-adjunctive-treatment-to-enzyme-replacement-therapy-in-infantile-onset-pompe-disease
#6
Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Dwight D Koeberl, Wen-Hui Tsai, Pao-Chin Chiu, Chaw-Liang Chang
BACKGROUND: Early initiation of enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase is an effective treatment for patients with infantile-onset Pompe disease (IOPD) but cannot prevent a slow progression of myopathy. Albuterol has been shown to be helpful in adult patients with Pompe disease, and therefore, we administered an open-label adjunctive therapy with albuterol in IOPD patients undergoing ERT. METHODS: Fourteen patients, aged 2 to 12 years, were enrolled in this study; all of them had a disease onset before 12 months of life, and 13 of them were ambulatory because of early initiation of ERT...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28477382/european-consensus-for-starting-and-stopping-enzyme-replacement-therapy-in-adult-patients-with-pompe-disease-a-10-year-experience
#7
A T van der Ploeg, M E Kruijshaar, A Toscano, P Laforêt, C Angelini, R H Lachmann, S I Pascual Pascual, M Roberts, K Rösler, T Stulnig, P A van Doorn, P Y K Van den Bergh, J Vissing, B Schoser
BACKGROUND AND PURPOSE: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here. METHODS: Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness of ERT in adult patients on a range of clinical outcome measures and quality of life...
May 6, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28467610/apurinic-apyrimidinic-endonuclease-1-ape1-ref-1-overexpression-is-an-independent-prognostic-marker-in-prostate-cancer-without-tmprss2-erg-fusion
#8
Manuela Juhnke, Asmus Heumann, Viktoria Chirico, Doris Höflmayer, Anne Menz, Andrea Hinsch, Claudia Hube-Magg, Martina Kluth, Dagmar S Lang, Christina Möller-Koop, Guido Sauter, Ronald Simon, Burkhard Beyer, Raisa Pompe, Imke Thederan, Thorsten Schlomm, Andreas M Luebke
Polymorphisms of the base excision repair gene APE1 may be associated with an increased risk for developing prostate cancer. In other cancer types, altered APE1 protein expression is a candidate prognostic marker. Using immunohistochemistry, we thus analyzed APE1 expression in 9,763 prostate cancers in a tissue microarray (TMA) with attached clinical and molecular data. The comparison with normal prostate tissue revealed an upregulation of APE1 in cancer samples. APE1 immunostaining was considered weak in 20...
May 3, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28458930/an-18-month-old-child-with-infantile-pompe-disease-oral-signs
#9
Derya Ceyhan, Burcu Gucyetmez Topal
We aim to create an information platform by contributing orodental findings of Pompe disease to literature. An 18-month-old male patient with Pompe disease was referred to our clinic due to swelling of the gums. In first dental examination, a nonfluctuant, normal gingiva colored swelling at the right anterior region of maxilla was detected. His parents were recommended to perform finger massage to the region. Six months later, 51, 52, 62, and 74 numbered teeth had erupted, there was a fusion between 51 and 52 numbered teeth, 84 numbered tooth was seen to be erupted, and a swelling at the site of this tooth, similar to previous one, was present...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#10
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28456989/methods-for-determination-of-%C3%AE-glycosidase-%C3%AE-glycosidase-and-%C3%AE-galactosidase-activities-in-dried-blood-spot-samples
#11
Eser Yıldırım Sozmen, Ebru Demirel Sezer
The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health. Over the years, approaches for treatment of some LSDs have been developed with different strategies. Increasing availability of treatments of these diseases has accelerated the development of new methods and techniques for rapid diagnosis in patients with clinical indication...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28451990/chest-wall-kinematics-using-triangular-cosserat-point-elements-in-healthy-and-neuromuscular-subjects
#12
Dana Solav, Henri Meric, M B Rubin, Didier Pradon, Frédéric Lofaso, Alon Wolf
Optoelectronic plethysmography (OEP) is a noninvasive method for assessing lung volume variations and the contributions of different anatomical compartments of the chest wall (CW) through measurements of the motion of markers attached to the CW surface. The present study proposes a new method for analyzing the local CW kinematics from OEP measurements based on the kinematics of triangular Cosserat point elements (TCPEs). 52 reflective markers were placed on the anterior CW to create a mesh of 78 triangles according to an anatomical model...
April 27, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28450385/mass-spectrometry-but-not-fluorometry-distinguishes-affected-and-pseudodeficiency-patients-in-newborn-screening-for-pompe-disease
#13
Hsuan-Chieh Liao, Min-Ju Chan, Chia-Feng Yang, Chuan-Chi Chiang, Dau-Ming Niu, Chun-Kai Huang, Michael H Gelb
BACKGROUND: Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the number of patient referrals for clinical follow-up. METHODS: We measured the enzymatic activity of GAA in dried blood spots on newborn screening cards (DBS) using a tandem mass spectrometry (MS/MS) assay...
April 27, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28444756/e7-1057%C3%AE-ta-mutation-of-the-acidic-%C3%AE-glucosidase-gene-causes-pompe-s-disease-in-droughtmaster-cattle
#14
R E Lyons, D J Johnston, M R McGowan, A Laing, B Robinson, H Owen, B D Hill, B M Burns
OBJECTIVE: To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters. DESIGN: Existing genomic and other diagnostic tests developed for generalised glycogenosis in cattle were used to test for the presence of the three known loss-of-function alleles of GAA in a herd of Droughtmaster cattle...
May 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28433478/investigation-on-acute-effects-of-enzyme-replacement-therapy-and-influence-of-clinical-severity-on-physiological-variables-related-to-exercise-tolerance-in-patients-with-late-onset-pompe-disease
#15
Annalisa Sechi, Desy Salvadego, Alessandro Da Ponte, Nicole Bertin, Andrea Dardis, Silvia Cattarossi, Grazia Devigili, Federico Reccardini, Bruno Bembi, Bruno Grassi
Exercise intolerance is one of the clinical hallmarks of late-onset Pompe disease (LOPD). We studied the acute effects of ERT on the physiological variables associated with exercise tolerance in patients chronically ERT treated. Moreover, we assessed the influence of clinical severity on the investigated variables. The day before (B) and the day after (A) ERT injection, 11 LOPD patients performed on a cycle-ergometer an exercise tolerance test to voluntary exhaustion; VO2, HR, RPE, and GAA activity were determined in B and A...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433475/targeted-population-screening-of-late-onset-pompe-disease-in-unspecified-myopathy-patients-for-korean-population
#16
Jung Hwan Lee, Jin-Hong Shin, Hyung Jun Park, Sook Za Kim, Young Mi Jeon, Hye Kyoung Kim, Dae-Seong Kim, Young-Chul Choi
We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had one or more signs out of five LOPD-like clinical findings (proximal weakness, axial weakness, lingual weakness, respiratory difficulty, idiopathic hyperCKemia). Acid alpha glucosidase activity was evaluated with dried blood spot and mixed leukocyte simultaneously...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28424361/computed-tomographic-findings-in-subjects-who-died-from-respiratory-disease-in-the-national-lung-screening-trial
#17
Esther Pompe, Pim A de Jong, David A Lynch, Nikolas Lessmann, Ivana Išgum, Bram van Ginneken, Jan-Willem J Lammers, Firdaus A A Mohamed Hoesein
We evaluated the prevalence of significant lung abnormalities on computed tomography (CT) in patients who died from a respiratory illness other than lung cancer in the National Lung Screening Trial (NLST).In this retrospective case-control study, NLST participants in the CT arm who died of respiratory illness other than lung cancer were matched for age, sex, pack-years and smoking status to a surviving control. A chest radiologist and a radiology resident blinded to the outcome independently scored baseline CT scans visually and qualitatively for the presence of emphysema, airway wall thickening and fibrotic lung disease...
April 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28423189/computed-tomography-quantification-of-tracheal-abnormalities-in-copd-and-their-influence-on-airflow-limitation
#18
Leticia Gallardo Estrella, Esther Pompe, Jan-Martin Kuhnigk, David A Lynch, Surya P Bhatt, Bram van Ginneken, Eva Marjolein van Rikxoort
PURPOSE: To present a method to automatically quantify tracheal morphology changes during breathing and investigate its contribution to airflow impairment when adding CT measures of emphysema, airway wall thickness, air trapping and ventilation. METHODS: Because tracheal abnormalities often occur localized, a method is presented that automatically determines the most abnormal trachea section based on automatically computed sagittal and coronal lengths. In this most abnormal section, trachea morphology is encoded using four equiangular rays from the center of the trachea and the normalized lengths of these rays are used as features in a classification scheme...
April 17, 2017: Medical Physics
https://www.readbyqxmd.com/read/28394184/clinical-and-molecular-characterization-of-infantile-onset-pompe-disease-in-mainland-chinese-patients-identification-of-two-common-mutations
#19
Xi Chen, Tingliang Liu, Meirong Huang, Jinjin Wu, Junxue Zhu, Ying Guo, Xinyi Xu, Fen Li, Jian Wang, Lijun Fu
AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at symptom onset was 3.4 months (range: 1...
April 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28380457/the-integrative-metabolomic-transcriptomic-landscape-of-glioblastome-multiforme
#20
Dieter Henrik Heiland, Jakob Wörner, Jan Gerrit Haaker, Daniel Delev, Nils Pompe, Bianca Mercas, Pamela Franco, Annette Gäbelein, Sabrina Heynckes, Dietmar Pfeifer, Stefan Weber, Irina Mader, Oliver Schnell
The purpose of this study was to map the landscape of metabolic-transcriptional alterations in glioblastoma multiforme. Omic-datasets were acquired by metabolic profiling (1D-NMR spectroscopy n=33 Patient) and transcriptomic profiling (n=48 Patients). Both datasets were analyzed by integrative network modeling. The computed model concluded in four different metabolic-transcriptomic signatures containing: oligodendrocytic differentiation, cell-cycle functions, immune response and hypoxia. These clusters were found being distinguished by individual metabolism and distinct transcriptional programs...
March 24, 2017: Oncotarget
keyword
keyword
27242
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"