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Thematische Bibliographien / Late-onset Pome disease

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Auswahl der wissenschaftlichen Literatur zum Thema „Late-onset Pome disease“

Autor: Grafiati

Veröffentlicht am 30. Juni 2021

Zuletzt aktualisiert am 11. Februar 2022

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Zeitschriftenartikel zum Thema "Late-onset Pome disease"

1

Mattosova, S., A. Hlavata, P. Spalek, L. Kotysova, D. Macekova und J. Chandoga. „Late onset form of Pompe disease“. Bratislava Medical Journal 116, Nr. 08 (2015): 502–5. http://dx.doi.org/10.4149/bll_2015_097.

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2

Schneider, Joseph, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley und Jeanine Jarnes Utz. „Hypothyroidism in late-onset Pompe disease“. Molecular Genetics and Metabolism Reports 8 (September 2016): 24–27. http://dx.doi.org/10.1016/j.ymgmr.2016.06.002.

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3

Goker-Alpan, Ozlem, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi und Priya S. Kishnani. „Pregnancy Outcomes in Late Onset Pompe Disease“. Life 10, Nr. 9 (11.09.2020): 194. http://dx.doi.org/10.3390/life10090194.

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There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a questionnaire. Among 20 subjects that reported one or more pregnancies, one subject conceived while on ERT and continued therapy through two normal pregnancies with worsening of weakness during pregnancy and improvement postpartum. While fertility was not affected, pregnancy may worsen symptoms, or cause initial symptoms to arise. Complications with pregnancy or birth were not higher, except for an increase in the rate of stillbirths (3.8% compared to the national average of 0.2–0.7%). Given small sample size and possible bias of respondents being only women who have been pregnant, further data may be needed to better analyze the effects of pregnancy on PD, and the effects of ERT on pregnancy outcomes.

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Roberts, Mark. „Late-Onset Pompe Disease: A Multisystemic Disorder“. Journal of Neuromuscular Diseases 2, s1 (2015): S1. http://dx.doi.org/10.3233/jnd-159001.

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5

Xirou, S., C. Papadopoulos, V. Nikolakopoulou, H. Michelakaki, K. Spengos, N. Karandreas, P. Manta und G. Papadimas. „ERT efficacy in late onset Pompe disease“. Neuromuscular Disorders 26 (Oktober 2016): S110. http://dx.doi.org/10.1016/j.nmd.2016.06.090.

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6

Lamartine S.Monteiro, M., und G. Remiche. „Late-onset Pompe disease associated with polyneuropathy“. Neuromuscular Disorders 29, Nr. 12 (Dezember 2019): 968–72. http://dx.doi.org/10.1016/j.nmd.2019.08.016.

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7

Jones, Harrison, Kelly Crisp, Milisa Batten, Ashley Edds, Jill Marcus, Maragatha Kuchibhalta, Lisa Hobson-Webb und Priya Kishnani. „Lingual pathophysiology in late-onset Pompe disease“. Molecular Genetics and Metabolism 123, Nr. 2 (Februar 2018): S72. http://dx.doi.org/10.1016/j.ymgme.2017.12.178.

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8

Frezza, E., C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco und R. Massa. „Late-Onset Pompe Disease with Nemaline Bodies“. Case Reports in Neurological Medicine 2018 (27.09.2018): 1–5. http://dx.doi.org/10.1155/2018/4127213.

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Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Although muscle biopsy findings are rather stereotyped, atypical features have been described. A 52-year-old man without a family history of muscle disorders presented with slowly progressing upper and lower limb girdle weakness and hyperCKemia. At needle EMG, a diffuse neurogenic pattern was detected. Muscle biopsy showed a selective type 1 fiber atrophy with vacuoles of various sizes, filled with PAS and acid phosphatase positive material, confirmed to be glycogen by electron microscopy (EM). Many atrophic fibers contained foci of myofibrillar material recognized as nemaline bodies (NBs) at EM. Low level of alpha-glucosidase activity in blood and molecular genetic testing confirmed the diagnosis of late-onset Pompe disease (LOPED). Major causes of hereditary and acquired NB myopathy were ruled out. In conclusion, NBs represent a novel histological finding in LOPED and characterize the atypical presentation of our case.

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Salinas-Suikouski, Robert, Fabricio González-Andrade und Gabriela Aguinaga-Romero. „Enfermedad de Pompe de inicio tardío desencadenada por el embarazo, reporte de una variante clínica genómica descrita por primera vez en un adulto.“ Revista Ecuatoriana de Neurologia 29, Nr. 2 (2020): 113–18. http://dx.doi.org/10.46997/revecuatneurol29200113.

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Antecedentes: esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), se describe en una mujer adulta, desencadenada por el embarazo. Es una mutación sin sentido por sustitución, homocigótica, probablemente patógena. Reporte del caso: se trata de una mujer adulta mestiza, nacida y residente en Ecuador, que durante su período de lactancia, después de un embarazo y un parto por cesárea, debutó con un trastorno musculoesquelético. Se hospitalizó a la paciente en el Hospital Eugenio Espejo en Quito, Ecuador; donde ella ha sido readmitida por varias veces. Los hallazgos clínicos más relevantes fueron debilidad muscular proximal, debilidad muscular de las extremidades inferiores, dificultad para subir escaleras, insuficiencia respiratoria debido a debilidad muscular, edema de las extremidades inferiores, deterioro de las actividades de la vida diaria, ortopnea, trastornos del sueño y debilidad muscular. Además, encontró niveles elevados de creatina quinasa sérica, actividad enzimática y coenzima anormal, escoliosis lumbar, hipertensión arterial pulmonar, con regurgitación tricuspídea y regurgitación mitral leve, reemplazo graso del músculo esquelético, insuficiencia pulmonar, miopatía esquelética y descargas miotónicas en EMG. Conclusión: esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), la sustitución por una mutación sin sentido, homocigota, probablemente patógena se describe en un adulto. Es el primer caso desencadenado por el embarazo, el primer caso de inicio tardío descrito en Ecuador y el primer caso descrito en una mujer mestiza de Ecuador.

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Yang, C. F., D. M. Niu, M. J. Jeng, Y. S. Lee, P. C. Taso und W. J. Soong. „Late-Onset Pompe Disease With Left-Sided Bronchomalacia“. Respiratory Care 60, Nr. 2 (14.10.2014): e26-e29. http://dx.doi.org/10.4187/respcare.03419.

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Dissertationen zum Thema "Late-onset Pome disease"

1

Crossen, Kaylee. „Parent Experiences with Newborn Screening and Medical Management for Late-onset Pompe Disease“. University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623166079821619.

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2

Remiche, Gauthier. „Genotype-phenotype Correlation in Late-onset Glycogen Storage Disease Type II, Early Diagnosis and Prognostic Determinants“. Doctoral thesis, Universite Libre de Bruxelles, 2016. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/227822.

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Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal storage disorder caused by acid alpha-1,4-glucosidase (GAA) deficiency. This study aimed to provide an in-depth description of a late-onset GSDII (LO-GSDII) cohort (n=36) and assess potential genotype-phenotype correlation. We performed a clinical record-based study, some patients (n= 19) were also followed prospectively. Phenotypes were highly variable. We focused our clinical assessment onrespiratory failure, as it is the most frequent cause of death in LO-GSDII. In addition to standard spirometric measures, in a subgroup of patients (n = 10) we utilized a new tool, optoelectronic plethysmography (OEP), to investigate the pathophysiology of respiratory muscle impairment.The GAA gene was sequenced in every patient, and pathogenic mutations were identified inall of them. Almost all (35/36) patients carried the same mutation on one allele, IVS1-32-13T>G, which was in compound heterozygosity with a variety of other GAA mutations. To investigate genotype-phenotype correlation, we divided the patient cohort in two groups, according to the severity of the mutation on the second allele. The respiratory function study focused on diaphragmatic weakness. According to the change in forced vital capacity in supine position (ΔFVC), we defined patients with ΔFVC>25% ashaving diaphragmatic weakness (DW) and those with ΔFVC<25% as without diaphragmatic weakness (noDW). We measured pulmonary function and chest wall volumes using OEP inboth groups. We found a good correlation between the supine abdominal contribution to tidal volume (%VAB) and ΔFVC. Patients showed reduced chest wall and abdominal inspiratory capacity and low abdominal expiratory reserve volume. In terms of genotype-phenotype correlation, we counted more subjects in the group with severe second mutations (n=21) who had severe motor disability and respiratory dysfunction. However, this finding remains preliminary because differences were not significant, likely because of small sample size. Finally, in two smaller substudies, we investigated the occurrence of urinary and fecal incontinence in LO-GSDII, and reported a possibly non-fortuitous association of LO-GSDII and hydromyelia in two individuals. Overall, this work 1) provided new insight into genotype-phenotype correlation in GSDII, suggesting that it is of complex nature; 2) refined the analysis of respiratory muscle impairment and showed the utility of OEP for respiratory assessment in this neuromuscular disorder, and possibly in others as well; 3) indicated some so far little studied phenotypic features of LO-GSD-II that deserve further investigation.
Doctorat en Sciences médicales (Médecine)
info:eu-repo/semantics/nonPublished

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Bücher zum Thema "Late-onset Pome disease"

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van der Ploeg, Ans T., und Pascal Laforêt. Pompe Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0055.

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Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α‎-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including cardiomyopathy, to late-onset slowly progressive muscle weakness mimicking limb-girdle muscular dystrophy. Respiratory insufficiency is a frequent complication and the main cause of death. The prognosis of Pompe disease has changed considerably with the use of enzyme replacement therapy using recombinant acid α‎-glucosidase (alglucosidase alfa), which has been widely available since 2006. Improvements in survival and major motor achievements can be observed in patients with infantile forms, and recent studies demonstrate improvement of walking distance and stabilization of pulmonary function in late-onset forms. A longer-term study of the safety and efficacy of ERT, based on data gathering across the complete spectrum of Pompe disease via national or international patient registries, is needed in order to formulate more precise guidelines for treatment.

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Brusse, Esther, Pascal Laforêt und Ans T. van der Ploeg. Danon Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0056.

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Danon disease, like Pompe disease, is a muscle disorder caused by a primary defect in lysosomal proteins. Danon disease (OMIM #300257) is an X-linked dominant disorder, with males being more severely affected than female carriers. In males, mean disease onset is in their early teens and in females in their late twenties. Clinical hallmarks are a severe cardiomyopathy, muscle weakness, and mild mental retardation. Retinal, liver, and pulmonary disease may also occur. Milder, sometimes isolated cardiac phenotypes without mental retardation are also described. Regular cardiac evaluation, even in asymptomatic patients, is obligatory.

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Buchteile zum Thema "Late-onset Pome disease"

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Chien, Yin-Hsiu, Jennifer L. Goldstein, Wuh-Liang Hwu, P. Brian Smith, Ni-Chung Lee, Shu-Chuan Chiang, Adviye A. Tolun et al. „Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening“. In JIMD Reports, 67–73. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_366.

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2

Mori, Mari, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers, Deeksha S. Bali, Anne F. Buckley und Priya S. Kishnani. „Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report“. In JIMD Reports, 79–83. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_563.

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Konferenzberichte zum Thema "Late-onset Pome disease"

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PORTO, BRUNA KELLEN WANDERLEY, CARLA BALEEIRO RODRIGUES SILVA, RODRIGO SILVEIRA VASCONCELOS, LUMA MENDES BRITO, MARLISE SITIMA MENDES SIMÕES FARIA und SAMUEL KATSUYUKI SHINJO. „LATE-ONSET POMPE DISEASE MIMICKING ADULT POLYMYOSITIS: A CASE REPORT“. In 36º Congresso Brasileiro de Reumatologia. São Paulo: Editora Blucher, 2019. http://dx.doi.org/10.5151/sbr2019-150.

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SILVEIRA, RODRIGO ANTUNES, CECILIA DAVILA CHAMBI, DANIELLI APARECIDA SELEGATTO, ISADORA MELO ZAMBUZZI, NICOLAS NISIYAMAMOTO BARBOZA, MONICA MARIA CANAVEZI, POLLYANA VERONICA CORTELASSI et al. „POMPE DISEASE LATE ONSET AS A CAUSE OF DIAPHRAGMATIC FAILURE“. In 36º Congresso Brasileiro de Reumatologia. São Paulo: Editora Blucher, 2019. http://dx.doi.org/10.5151/sbr2019-208.

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3

Spießhöfer, J., HJ Kabitz, SD Herkenrath, WJ Randerath, P. Young und M. Boentert. „The nature of respiratory muscle weakness in patients with late-onset-pompe disease“. In 61. Kongress der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin e.V. Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0039-3403083.

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Araújo Cunha Guimarães, Maria José, João Winck, Bebiana Conde, Alexandra Mineiro, Margarida Raposo und Joaquim Moita. „Prevalence of Late-Onset Pompe Disease in Portuguese Patients with Diaphragmatic Paralysis: The DIPPER Study“. In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa2442.

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Confalonieri, Marco, Michele Vitacca, Andrea Vianello, Antonio Capuozzo, Eugenio Sabato, Fausto De Michele, Annalisa Carlucci et al. „Early diagnosis of late onset Pompe disease (LOPD) in patients with respiratory failure (PneumoLoped study preliminary data)“. In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa4258.

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Da Nobrega Cirino Nogueira, Andrea, Liégina Silveira Marinho, Renata Dos Santos Vasconcelos, Suzy Maria Montenegro Ponte, Nancy Delma Silva Vega Canjura Sousa, Juliete Vaz Ferreira, Patrícia Carvalho Bezerra, Miguel Angelo Nobre E Sousa und Marcelo Alcantara Holanda. „Respiratory and Motor Phenotypes and Correlations with Diaphragm Function in Patients with Late-Onset Pompe Disease (LOPD)“. In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa2432.

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