Pompe Disease

Dasouki, Majed; Jawdat, Omar; Almadhoun, Osama; Pasnoor, Mamatha; McVey, April; Abuzinadah, Ahmad R.; Herbelin, Laura; Barohn, Richard J.; Dimachkie, Mazen M.

doi:10.1016/j.ncl.2014.04.010

Cited by 113 publications

(67 citation statements)

References 124 publications

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“…Младенческая форма характеризуется полиорганной патологией (кардиомегалией, гепатомегалией, гипотонией и генерализованной мышечной слабостью), агрессивным течением и обычно гибелью ребенка от дыхательной недостаточности. На долю диагностированных пациентов с младенческой БП приходится всего 23 %, что ставит вопрос о причинах малого числа диагностированных больных с БППН [2]. При БППН в основном поражаются мышцы плечевого, тазового поясов и паравертебральные мышцы при отсутствии или минимальном вовлечении других органов и тканей [5,6].…”

Section: лекции и обзорыunclassified

“…Недостаточная активность или отсутствие α-ГЛ приводит к внутри-клеточному накоплению гликогена и в конечном итоге к поражению разных тканей организма [1]. Частота болезни Помпе колеблется в широких пределахот 1:40 000 / 60 000 [2][3][4].…”

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Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Никитин¹

2020

Neuromuscular Diseases

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Pompe disease is classified in two main forms: the infantile onset Pompe disease, manifested before the age of 12 months and late onset Pompe disease with a debut at any age after 1 year of life. The late onset Pompe disease is characterized by hyper creatine kinase level, limb-girdle and axial muscle weakness, usually complicated by respiratory muscles degeneration. Diagnostic delay is still common in most countries, and physician should be wary to of delaying the correct diagnosis. Difficulties in diagnosing late onset Pompe disease are associated with broad and continuous clinical spectrum of nonspecific signs and symptoms often not distinguishable from those in other neuromuscular disorders. The main muscular manifestations and clinical tests of late onset Pompe disease are considered, and extra-muscular changes are discussed that allow one to suspect type II glycogenosis.

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Section: лекции и обзорыunclassified

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Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Никитин¹

2020

Neuromuscular Diseases

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“…D. Smith, Pollacchi, Field, & Watson, 2002), Alzheimer’s disease (Botella-Lopez, Burgaya, Gavin, Garcia-Ayllon, Gomez-Tortosa, Pena-Casanova et al, 2006; J. Z. Wang, Grundke-Iqbal, & Iqbal, 1996), Pompe disease (Dasouki, Jawdat, Almadhoun, Pasnoor, McVey, Abuzinadah et al, 2014), and cancer (Mechref, Hu, Garcia, & Hussein, 2012; T. H. Tsai, Song, Zhu, Di Poto, Wang, Luo et al, 2015).…”

Section: Challenges Associated With Glycoprotein Analysismentioning

confidence: 99%

Glycoprotein Enrichment Analytical Techniques

Zhu

Zacharias

Wooding

et al. 2017

Methods in Enzymology

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Protein glycosylation is one of the most important posttranslational modifications. Numerous biological functions are related to protein glycosylation. However, analytical challenges remain in the glycoprotein analysis. To overcome the challenges associated with glycoprotein analysis, many analytical techniques were developed in recent years. Enrichment methods were used to improve the sensitivity of detection while HPLC and mass spectrometry methods were developed to facilitate the separation of glycopeptides/proteins and enhance detection, respectively. Fragmentation techniques applied in modern mass spectrometers allow the structural interpretation of glycopeptides/proteins while automated software tools started replacing manual processing to improve the reliability and throughout of the analysis. In this chapter, the current methodologies of glycoprotein analysis were discussed. Multiple analytical techniques are compared, and advantages and disadvantages of each technique are highlighted.

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“…Clinically, infants with IOPD typically present during the first few weeks of life with hypotonia, progressive weakness, macroglossia, hepatomegaly, and hypertrophic cardiomyopathy. This presentation usually facilitates identification of the disorder [ 7 , 8 ]; however, identifying LOPD can be more challenging as these patients generally present with slowly progressive limb girdle-type weakness and ventilatory insufficiency without significant cardiomyopathy. Cardiac involvement in LOPD has been described, and may manifest as Wolff-Parkinson-White syndrome, left ventricular hypertrophy, and dilatation of the ascending aorta [ 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

“…However, the humanistic burden of a disease, rather than its clinical and economic burden, is typically of greatest concern to patients and their caregivers. Although several reviews have previously been published on the clinical burden of Pompe disease [ 4 – 6 , 8 ], the overall humanistic burden has been neglected. This article aims to characterize all aspects of the humanistic burden of Pompe disease and of ERT through a systematic review of the relevant literature for both IOPD and LOPD.…”

Section: Introductionmentioning

confidence: 99%

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

et al. 2017

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BackgroundHumanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain. This article characterizes the humanistic burden of Pompe disease through a systematic literature review.MethodsA systematic search of MEDLINE® and Embase® with back-referencing and supplementary literature searches was performed to retrieve data from interventional and non-interventional studies on the humanistic burden of Pompe disease. Publications were screened according to predefined criteria, extracted, and assessed for quality. Extracted data were narratively synthesized.ResultsNo publications on the humanistic burden of infantile-onset Pompe disease (IOPD) were identified. As such, of 17 publications included here, all are in patients with late-onset Pompe disease (LOPD). Thirteen publications were initiated after approval of ERT, two were initiated before, and two overlapped the approval of ERT. The review shows that LOPD patients have a significantly lower HRQoL than the general population, even if treated with ERT. On transitioning to ERT, treatment was associated with improvement in the physical component score of the SF-36 and fatigue, although the SF-36 mental component score remained stable. Physical HRQoL remained below population norms after 4 years of ERT. Significantly more ERT-treated patients reported pain than controls, and bodily pain worsened in later years following ERT initiation. Treatment-naïve LOPD patients had significantly poorer ADL functioning compared with the general population, although ERT stabilized deteriorating functioning impairment. ERT studies showed caregivers provide 17.7 h/week informal care on average. Fifty percent, 40% and <20% of caregivers reported mental health, physical health, and financial/relational problems, respectively. In ERT-naïve patients, wheelchair use and home ventilatory support was associated with lower physical HRQoL and ADL functioning. In ERT-treated patients, key factors predicting worse HRQoL and ADL functioning were higher respiratory distress, poorer sleep quality, greater pain, and more fatigue.ConclusionsPompe disease has a substantial humanistic burden, with strong inter-relationships among and between humanistic burden parameters and clinical progression.

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Pompe Disease

Cited by 113 publications

References 124 publications

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Glycoprotein Enrichment Analytical Techniques

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

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