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José C Milisenda, Teresa Pujol, Josep M Grau
No abstract text is available yet for this article.
October 11, 2016: Neurology
C Dolfus, J-P Simon, G Landemore, F Leroy, F Chapon
INTRODUCTION: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease. MATERIAL AND METHODS: We retrospectively studied muscle biopsies of all cases of the adult form of Pompe disease diagnosed at the University Hospital of Caen...
2016: Folia Neuropathologica
Matthias Boentert, Hélène Prigent, Katalin Várdi, Harrison N Jones, Uwe Mellies, Anita K Simonds, Stephan Wenninger, Emilia Barrot Cortés, Marco Confalonieri
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness...
October 17, 2016: International Journal of Molecular Sciences
Eva Rombout-Sestrienkova, Marian G J van Kraaij, Ger H Koek
A number of disorders cause iron overload: some are of genetic origin, such as hereditary haemochromatosis, while others are acquired, for instance due to repeated transfusions. This article reviews the treatment options for hereditary haemochromatosis, with special attention to the use of erythrocytapheresis. In general, therapy is based on the removal of excess body iron, for which ferritin levels are used to monitor the effectiveness of treatment. For many decades phlebotomy has been widely accepted as the standard treatment...
October 10, 2016: British Journal of Haematology
Sebastián Figueroa-Bonaparte, Sonia Segovia, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa, Aída Alejaldre, Mercè Mayos, Guillermo Suárez-Cuartín, Eduard Gallardo, Isabel Illa, Jordi Díaz-Manera
OBJECTIVES: Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far. METHODS: We studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire)...
2016: PloS One
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart Gw Lidov, Catherine A Brownstein, David M Margulies, Timothy W Yu, Mustafa A Salih, Louis M Kunkel, Daniel G MacArthur, Peter B Kang
The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Pathogenic mutations and cosegregation patterns were confirmed by Sanger sequencing. Twenty-two families (40%) had novel and previously reported pathogenic mutations, primarily in LGMD genes, and also in genes for Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital myopathy, myofibrillar myopathy, inclusion body myopathy and Pompe disease...
October 6, 2016: Journal of Human Genetics
Christopher T Turner, Maria Fuller, John J Hopwood, Peter J Meikle, Doug A Brooks
Pompe disease is caused by a deficiency in the lysosomal enzyme α-glucosidase, and this leads to glycogen accumulation in the autolysosomes of patient cells. Glycogen storage material is exocytosed at a basal rate in cultured Pompe cells, with one study showing up to 80% is released under specific culture conditions. Critically, exocytosis induction may reduce glycogen storage in Pompe patients, providing the basis for a therapeutic strategy whereby stored glycogen is redirected to an extracellular location and subsequently degraded by circulating amylases...
October 28, 2016: Biochemical and Biophysical Research Communications
Stephanie L Austin, Andrew Chiou, Baodong Sun, Laura E Case, Kenny Govendrageloo, Perrin Hansen, Priya S Kishnani
OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with alglucosidase-alfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutation in the GAA gene...
September 28, 2016: Molecular Genetics and Metabolism
Yim Pui Chu, Bun Sheng, Kwok Kwong Lau, Hiu Fai Chan, Grace Yee Wai Kam, Hencher Han Chih Lee, Chloe Miu Mak
Late onset Pompe disease is a rare inherited metabolic disease with diverse clinical manifestation. However, there is a lack of local data in Hong Kong. We aimed at performing an in-depth review of natural history of all patients in Hong Kong. Eleven patients were diagnosed to have the disease in Hong Kong from 2000 to 2013. All case records were reviewed and face-to-face interviews were conducted to complete a questionnaire regarding the clinical manifestation and diagnosis of the disease. The estimated birth incidence was 1/300,000...
September 13, 2016: Neuromuscular Disorders: NMD
Michael Ansorge, Nadine Rastig, Ralph Steinborn, Tina König, Lars Baumann, Stephanie Möller, Matthias Schnabelrauch, Michael Cross, Carsten Werner, Annette G Beck-Sickinger, Tilo Pompe
No abstract text is available yet for this article.
November 10, 2016: Journal of Controlled Release: Official Journal of the Controlled Release Society
Gladys W Strain, Mehyar H Torghabeh, Michel Gagner, Faith Ebel, Gregory F Dakin, Jonathan S Abelson, Daniel Connolly, Alfons Pomp
BACKGROUND: There is limited information on the multiple long-term effects of the biliopancreatic diversion with duodenal switch (BPD/DS). METHODS: Patients who consented to a BPD/DS from 1999 to 2010 were evaluated for weight change, complications, comorbidity resolution, body composition, quality of life, and depressive symptoms during visits at 1, 3,5, 7, and 9 years. Descriptive statistics, analysis of variance, and pair-wise comparisons were calculated for each of the five follow-up cohorts vs...
September 29, 2016: Obesity Surgery
Anna Pichiecchio, Marta Rossi, Claudia Cinnante, Stefania Giovanna Colafati, Roberto De Icco, Rossella Parini, Francesca Menni, Francesca Furlan, Alberto Burlina, Michele Sacchini, Maria Alice Donati, Simona Fecarotta, Roberto Della Casa, Federica Deodato, Roberta Taurisano, Maja Di Rocco
INTRODUCTION: The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5±2.74 years) affected by classic infantile-onset Pompe disease (IOPD) who were treated with enzyme replacement therapy (ERT). METHODS: We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively...
September 26, 2016: Muscle & Nerve
Olcay Ünver, Nilüfer Eldeş Hacıfazlıoğlu, Elif Karatoprak, Ayfer Sakarya Güneş, Güneş Sağer, Büşra Kutlubay, Gülhan Sözen, Sema Saltık, Kutluhan Yılmaz, Bülent Kara, Dilşad Türkdoğan
The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis...
September 6, 2016: Neuromuscular Disorders: NMD
Eva-Maria Kuech, Graham Brogden, Hassan Y Naim
Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result from mutations followed by functional deficiencies of enzymes or transporters within the acidic environment of the lysosome, which mediate the degradation of a wide subset of substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen, oligosaccharides, peptides and glycoproteins, or the export of the respective degradation products from the lysosomes...
September 21, 2016: Biochimie
Ferdos Nazari, Farnaz Sinaei, Yalda Nilipour, Farzad Fatehi, Berthold Streubel, Mahmoud Reza Ashrafi, Omid Aryani, Shahriar Nafissi
INTRODUCTION: Pompe disease is characterized by absence or deficiency of acid alpha glucosidase, and several causative mutations are known. In this study we report clinical and lab data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations. METHODS: Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. All had reduced enzyme activity on dried blood spot (DBS) analysis...
September 20, 2016: Muscle & Nerve
Laure Gallay, Philippe Petiot, Isabelle Durieu, Nathalie Streichenberger, Frederic Berard
Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that has shown benefits. However, this treatment induces hypersensitivity for half of the treated patients. Reactions range from mild to severe, sometimes requiring ERT suspension and anti-anaphylaxis drug administration...
July 19, 2016: Neuromuscular Disorders: NMD
Hiroki Takano, Tomohiko Ishihara, Motomichi Kosuga, Torayuki Okuyama
A 72-year-old, seemingly healthy, Japanese man suddenly lost consciousness. At the emergency room, the patient's Glasgow coma scale score was 10 and a thoracic breathing pattern was observed. An arterial blood gas analysis indicated acute hypercarbic respiratory failure. He was placed on non-invasive positive pressure ventilation. The next day he was alert. Manual muscle testing revealed that his face, neck and limb muscle strength were normal. He could walk, and Gowers' sign was not observed. Computed tomography showed atrophy of the paravertebral, abdominal wall and diaphragm crura muscles, without apparent limb muscle involvement...
2016: Internal Medicine
Barbara M Iwańczak, Agnieszka Borys-Iwanicka, Monika Biernat, Grażyna Gościniak
BACKGROUND: In the last decade a 10-day schema of sequential therapy of Helicobacter pylori infection based on proton pomp inhibitor (PPI), amoxicillin (AMO), clarithromycin (CLA) and metronidazole (MET) has been introduced. Many studies have emphasized greater efficacy of this therapy in comparison to the efficacy of the standard 7-day triple therapy (PPI + AMO + CLA or MET). OBJECTIVES: The aim of the study was to assess the sequential and standard triple therapy...
July 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Atze J Bergsma, Stijn Lm In 't Groen, Frans W Verheijen, Ans T van der Ploeg, Wwm Pim Pijnappel
While 9% of human pathogenic variants have an established effect on pre-mRNA splicing, it is suspected that an additional 20% of otherwise classified variants also affect splicing. Aberrant splicing includes disruption of splice sites or regulatory elements, or creation or strengthening of cryptic splice sites. For the majority of variants, it is poorly understood to what extent and how these may affect splicing. We have identified cryptic splicing in an unbiased manner. Three types of cryptic splicing were analyzed in the context of pathogenic variants in the acid α-glucosidase gene causing Pompe disease...
2016: Molecular Therapy. Nucleic Acids
Sara M F Turner, Darin J Falk, Barry J Byrne, David D Fuller
Pompe disease, caused by deficiency of acid alpha-glucosidase (GAA), leads to widespread glycogen accumulation and profound neuromuscular impairments. There has been controversy, however, regarding the role of central nervous system pathology in Pompe motor dysfunction. We hypothesized that absence of GAA protein causes progressive activation of neuropathological signaling, including pathways associated with cell death. To test this hypothesis, genomic data (Affymetrix Mouse Gene Array 2.0ST) from the mid-cervical spinal cord in 6- and 16-mo old Pompe (Gaa(-/-)) were evaluated (Broad Institute Molecular Signature Database), along with spinal cord histology...
September 9, 2016: Physiological Genomics
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