keyword
https://read.qxmd.com/read/38332845/pulmonary-interstitial-glycogenosis-in-two-neonates-early-recognition-and-use-of-corticosteroids
#1
Eric Hamberger, Yolanda Yu, Hyo-Jung Choi
Pulmonary interstitial glycogenosis (PIG) is known to be associated with a wide variety of congenital conditions, though the extent to which PIG contributes to clinical presentation and outcomes in infants remains controversial. We describe two cases of infants with congenital anomalies and respiratory distress at birth who were diagnosed with PIG with differing clinical courses and response to methylprednisolone therapy. These cases highlight the importance of improved recognition of PIG and uncertainties about which patients may benefit from treatment...
2024: Respiratory Medicine Case Reports
https://read.qxmd.com/read/38320460/acute-ketone-supplementation-in-the-absence-of-muscle-glycogen-utilization-insights-from-mcardle-disease
#2
JOURNAL ARTICLE
Pedro L Valenzuela, Alfredo Santalla, Lidia B Alejo, Asunción Bustos, Laureano M Ozcoidi, Laura Castellote-Bellés, Roser Ferrer-Costa, Mónica Villarreal-Salazar, María Morán, David Barranco-Gil, Tomàs Pinós, Alejandro Lucia
BACKGROUND & AIMS: Ketone supplementation is gaining popularity. Yet, its effects on exercise performance when muscle glycogen cannot be used remain to be determined. McArdle disease can provide insight into this question, as these patients are unable to obtain energy from muscle glycogen, presenting a severely impaired physical capacity. We therefore aimed to assess the effects of acute ketone supplementation in the absence of muscle glycogen utilization (McArdle disease). METHODS: In a randomized cross-over design, patients with an inherited block in muscle glycogen breakdown (i...
March 2024: Clinical Nutrition
https://read.qxmd.com/read/38261315/evaluating-avalglucosidase-alfa-for-the-management-of-late-onset-pompe-disease
#3
REVIEW
Corrado Angelini
INTRODUCTION: Glycogenosis type II (GSDII) is a rare autosomal disorder that is caused by the deficiency of alpha-glucosidase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Autophagy dysregulation plays a critical role. Importantly, since 2006, both patients with infantile (classic Pompe disease) and adult GSDII (late-onset Pompe disease or LOPD) have been treated with enzyme replacement therapy (ERT). To support this use, several double-blind and observational studies including large cohorts of GSDII patients have been undertaken and have shown ERT to be effective in modifying the natural course of disease...
March 2024: Expert Review of Neurotherapeutics
https://read.qxmd.com/read/38250461/hepatocellular-ballooning-is-due-to-highly-pronounced-glycogenosis-potentially-associated-with-steatosis-and-metabolic-reprogramming
#4
JOURNAL ARTICLE
Silvia Ribback, Kristin Peters, Mohd Yasser, Jessica Prey, Paula Wilhelmi, Qin Su, Frank Dombrowski, Peter Bannasch
BACKGROUND AND AIMS: Hepatocellular ballooning is a common finding in chronic liver disease, mainly characterized by rarefied cytoplasm that often contains Mallory-Denk bodies (MDB). Ballooning has mostly been attributed to degeneration but its striking resemblance to glycogenotic/steatotic changes characterizing preneoplastic hepatocellular lesions in animal models and chronic human liver diseases prompts the question whether ballooned hepatocytes (BH) are damaged cells on the path to death or rather viable cells, possibly involved in neoplastic development...
January 28, 2024: Journal of Clinical and Translational Hepatology
https://read.qxmd.com/read/38248833/altered-sphingolipid-hydrolase-activities-and-alpha-synuclein-level-in-late-onset-schizophrenia
#5
JOURNAL ARTICLE
Tatiana Usenko, Anastasia Bezrukova, Katerina Basharova, Galina Baydakova, Elena Shagimardanova, Nataliya Blatt, Albert Rizvanov, Oleg Limankin, Maxim Novitskiy, Natalia Shnayder, Artem Izyumchenko, Mikhail Nikolaev, Anna Zabotina, Anna Lavrinova, Darya Kulabukhova, Regina Nasyrova, Ekaterina Palchikova, Natalia Zalutskaya, Irina Miliukhina, Yury Barbitoff, Oleg Glotov, Andrey Glotov, Anastasia Taraskina, Nikolai Neznanov, Ekaterina Zakharova, Sofya Pchelina
Recent data described that patients with lysosomal storage disorders (LSDs) may have clinical schizophrenia (SCZ) features. Disruption of lipid metabolism in SCZ pathogenesis was found. Clinical features of schizophrenia (SCZ) have been demonstrated in patients with several lysosomal storage disorders (LSDs). Taking into account the critical role of lysosomal function for neuronal cells' lysosomal dysfunction could be proposed in SCZ pathogenesis. The current study analyzed lysosomal enzyme activities and the alpha-synuclein level in the blood of patients with late-onset SCZ...
December 31, 2023: Metabolites
https://read.qxmd.com/read/38030066/dose-response-effect-of-pre-exercise-carbohydrates-under-muscle-glycogen-unavailability-insights-from-mcardle-disease
#6
JOURNAL ARTICLE
Pedro L Valenzuela, Alfredo Santalla, Lidia B Alejo, Andrea Merlo, Asunción Bustos, Laura Castellote-Bellés, Roser Ferrer-Costa, Nicola A Maffiuletti, David Barranco-Gil, Tomás Pinós, Alejandro Lucia
BACKGROUND: This study aimed to determine the effect of different carbohydrate (CHO) doses on exercise capacity in patients with McArdle disease-the paradigm of "exercise intolerance", characterized by complete muscle glycogen unavailability-and to determine whether higher exogenous glucose levels affect metabolic responses at the McArdle muscle cell (in vitro) level. METHODS: Patients with McArdle disease (n = 8) and healthy controls (n = 9) underwent a 12-min submaximal cycling constant-load bout followed by a maximal ramp test 15 min after ingesting a non-caloric placebo...
November 27, 2023: Journal of Sport and Health Science
https://read.qxmd.com/read/38012812/severe-neuromuscular-forms-of-glycogen-storage-disease-type-iv-histological-clinical-biochemical-and-molecular-findings-in-a-large-french-case-series
#7
JOURNAL ARTICLE
Charles R Lefèvre, Sophie Collardeau-Frachon, Nathalie Streichenberger, Sophie Berenguer-Martin, Alix Clémenson, Jérôme Massardier, Fabienne Prieur, Hélène Laurichesse, Fanny Laffargue, Cécile Acquaviva-Bourdain, Roseline Froissart, Magali Pettazzoni
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live births. GBE deficiency leads to an excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues (liver, skeletal muscle, heart, nervous system, etc...
November 27, 2023: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/37859320/metabolic-myopathies-experience-of-a-reference-center-of-inherited-metabolic-diseases
#8
JOURNAL ARTICLE
Mafalda Rebelo, Madalena Pires, Laura Azurara, Lara Câmara, Márcia Pereira, Augusto Ribeirinho, Gonçalo Padeira, Patrícia Gaspar Silva, Sandra Jacinto, José Pedro Vieira, Ana Cristina Ferreira
INTRODUCTION: Metabolic myopathies (MM) are a heterogeneous group of genetic disorders affecting metabolic pathways involved in energy production during rest, exercise and physiologic stress (fever, fasting, …). Impairments in the pathways of glycolysis/ glycogenolysis, fatty acid transport/oxidation or in the mitochondrial respiratory chain present primarily with exercise intolerance, myalgias, weakness, cramps, or rhabdomyolysis. Depending on aetiology, the diagnosis can be made through neonatal screening, pre-symptomatic or in the set of clinical manifestations for which a high level of suspicion is important...
October 18, 2023: Endocrine, Metabolic & Immune Disorders Drug Targets
https://read.qxmd.com/read/37818800/pulmonary-interstitial-glycogenosis-in-birt-hogg-dub%C3%A3-syndrome-associated-lung-cysts-a-new-insight-into-the-pathogenesis
#9
Riken Kawachi, Yukio Nakatani, Mitsuko Furuya, Naoya Nakamura, Yusuke Kondo, Yoji Nagashima, Tomohiro Nakayama, Masahiro Okada, Hiroyuki Sakurai, Shinobu Masuda
Multiple lung cysts are one of the major features of Birt-Hogg-Dubé syndrome (BHD), but little is known about their nature and pathogenesis. We report a case of a woman diagnosed with BHD lung cysts who exhibited pulmonary interstitial glycogenosis (PIG), a mesenchymal abnormality hitherto undescribed in this disease, in specimens resected at 14 and 29 years of age. Histopathologically, oval to spindle clear cells were seen in the subepithelial interstitial tissue of septal structures and the walls of the cysts...
October 11, 2023: Pathology International
https://read.qxmd.com/read/37488619/data-from-the-european-registry-for-patients-with-mcardle-disease-euromac-functional-status-and-social-participation
#10
JOURNAL ARTICLE
Walaa Karazi, Renata S Scalco, Mads G Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C Voermans
BACKGROUND: The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. METHODS: Following the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations...
July 25, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37238286/treatment-of-the-neutropenia-associated-with-gsd1b-and-g6pc3-deficiency-with-sglt2-inhibitors
#11
REVIEW
Maria Veiga-da-Cunha, Saskia B Wortmann, Sarah C Grünert, Emile Van Schaftingen
Glycogen storage disease type Ib (GSD1b) is due to a defect in the glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene. This transporter allows the glucose-6-phosphate that is made in the cytosol to cross the endoplasmic reticulum (ER) membrane and be hydrolyzed by glucose-6-phosphatase (G6PC1), a membrane enzyme whose catalytic site faces the lumen of the ER. Logically, G6PT deficiency causes the same metabolic symptoms (hepatorenal glycogenosis, lactic acidosis, hypoglycemia) as deficiency in G6PC1 (GSD1a)...
May 19, 2023: Diagnostics
https://read.qxmd.com/read/37133233/lung-biopsy-in-infants-with-severe-bronchopulmonary-dysplasia
#12
JOURNAL ARTICLE
Danielle A Callaway, Yifei Wang, Krithika Lingappan, Jennifer E Pogoriler, Pablo Laje, Kathleen Nilan, Haresh Kirpalani, Huayan Zhang
INTRODUCTION: Lung biopsy is infrequently performed in the population of infants with severe bronchopulmonary dysplasia (BPD). Yet, its presentation may overlap with other infant diffuse lung diseases, including those within the spectrum of childhood interstitial lung diseases (chILD). Lung biopsy might differentiate between these entities or identify those with an extremely poor prognosis. Both might alter the clinical management of some infants diagnosed with BPD. METHODS: In this tertiary referral center, we drew on a retrospective cohort of 308 preterm infants with severe BPD...
May 3, 2023: Pediatric Pulmonology
https://read.qxmd.com/read/37118808/identification-of-mutations-that-causes-glucose-6-phosphate-transporter-defect-in-tunisian-patients-with-glycogenosis-type-1b
#13
JOURNAL ARTICLE
Latifa Chkioua, Yessine Amri, Chayma Sahli, Ferdawes Ben Rhouma, Amel Ben Chehida, Neji Tebib, Taieb Messaoud, Hassen Ben Abdennebi, Sandrine Laradi
BACKGROUND: Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues. The high rate of consanguineous marriages in Tunisian population provides an ideal environment to facilitate the identification of homozygous pathogenic mutations. We aimed to determine the clinical and genetic profiles of patients with GSD1b to evaluate SLC37A4 mutations spectrum in Tunisian patients...
April 28, 2023: Diabetology & Metabolic Syndrome
https://read.qxmd.com/read/37047105/the-liver-and-glycogen-in-sickness-and-in-health
#14
REVIEW
Gwyneth S T Soon, Michael Torbenson
The liver is a major store of glycogen and is essential in maintaining systemic glucose homeostasis. In healthy individuals, glycogen synthesis and breakdown in the liver are tightly regulated. Abnormal glycogen metabolism results in prominent pathological changes in the liver, often manifesting as hepatic glycogenosis or glycogen inclusions. This can occur in genetic glycogen storage disease or acquired conditions with insulin dysregulation such as diabetes mellitus and non-alcoholic fatty liver disease or medication effects...
March 24, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36813027/anaesthetic-implications-for-pompe-disease-a-case-description
#15
M Ruano Santiago, E Soto Garrucho, Y González Marín, A M Pérez Muñoz, M Echevarría Moreno
Pompe disease, or type II glycogenosis, is a rare metabolic myopathy inherited in an autosomal recessive pattern, characterized by progressive muscle weakness and multisystem involvement. The disease often results in premature death. Patients with Pompe disease are at high risk for anaesthesia-related complications, particularly cardiac and respiratory problems, although difficult airway management is the greatest complication. It is essential to perform a comprehensive preoperative study in order to reduce the risk of perioperative morbidity and mortality, and to obtain as much information as possible for the surgical procedure...
February 20, 2023: Revista española de anestesiología y reanimación
https://read.qxmd.com/read/36575071/pulmonary-storage
#16
JOURNAL ARTICLE
Martina Šterclová
Interstitial lung diseases (ILDs) are not just a matter of scarring or inflammation in the lung tissue. The lungs can also serve as a repository for products that can be produced in excessive amounts in the human body as a result of disease. Geneticaly based dysfunctions of lysosomal enzymes, which leads to an unefficient degradation and transport of various macromolecules from lysosomes, are considered to be storage diseases sensu stricto. ILDs were described in patients with Gaucher disease, Niemann-Pick disease and Fabry disease...
2022: Vnitr̆ní Lékar̆ství
https://read.qxmd.com/read/36568561/case-report-rescue-treatment-with-add-on-selexipag-in-a-preterm-infant-with-suprasystemic-pulmonary-hypertension-pulmonary-capillary-hemangiomatosis-and-isolated-pulmonary-vein-stenosis
#17
Hosan Hasan, Klea Hysko, Thomas Jack, Jens Dingemann, Martin Wetzke, Georg Hansmann
An extremely dystrophic, premature female infant, born at 25 3/7 weeks of gestational age (birth weight: 430 g) with severe pulmonary hypertension (PH), was admitted to our neonatal intensive care unit (ICU) requiring cardiorespiratory support, including mechanical ventilation and pulmonary vasodilators such as inhaled nitric oxide (iNO) and continuous intravenous sildenafil infusions. The diagnosis of bronchopulmonary dysplasia (BPD) was made. A hemodynamically relevant, persistent ductus arteriosus (PDA) was surgically ligated after failed pharmacologic PDA closure using indomethacin and ibuprofen...
2022: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/36421193/interstitial-lung-disease-in-children-specific-conditions-of-undefined-etiology-becoming-clearer
#18
REVIEW
Santiago Presti, Giuseppe Fabio Parisi, Maria Papale, Eloisa Gitto, Sara Manti, Salvatore Leonardi
BACKGROUND: Children's interstitial lung disease (chILD) is a rare group of pediatric lung diseases affecting the lung interstitium diffusely. In this work, we focused our attention on a specific infant group of chILD, also known as "specific conditions of undefined aetiology", including pulmonary interstitial glycogenosis (PIG) and neuroendocrine cell hyperplasia of infancy (NEHI). METHODS: PubMed was searched to conduct this narrative review. We searched for articles in English using the following keywords: (1) neuroendocrine cell hyperplasia of infancy; (2) NEHI; (3) pulmonary interstitial glycogenosis; (4) PIG; (5) chILD...
November 14, 2022: Children
https://read.qxmd.com/read/36379634/rare-interstitial-lung-disease-in-a-preterm-neonate-with-congenital-lobar-emphysema
#19
JOURNAL ARTICLE
Swati Jayaram, Caroline Abramovich, Aparna Roy, Gurinder Kumar
Congenital lobar emphysema (CLE)/congenital alveolar overdistension/congenital lobar overinflation or infantile lobar emphysema is a rare developmental anomaly of the lower respiratory tract which is characterised by hyperinflation of one or more of the pulmonary lobes. Histopathology may be variable, which may show abnormality in the cartilage, granulation tissue, mucosal folds, etc. We report a rare underlying histopathology in a preterm neonate with CLE. This entity referred to as pulmonary interstitial glycogenosis (PIG) is a group of heterogeneous lung disease affecting the lung parenchyma and is characterised by the presence of glycogen laden cells in the lung interstitium...
November 15, 2022: BMJ Case Reports
https://read.qxmd.com/read/36292720/clinical-biochemical-and-molecular-characterization-of-two-families-with-novel-mutations-in-the-ldha-gene-gsd-xi
#20
Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A Martín
Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female patients presenting with intolerance to anaerobic exercise, episodes of rhabdomyolysis, and, in one of the patients, psoriasis-like dermatitis. We identified in the LDHA gene a homozygous c.410C>A substitution that predicts a p.Ser137Ter nonsense mutation in Patient One and a compound heterozygous c...
October 11, 2022: Genes
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