2,300 results match your criteria gsd


Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.

BMC Pediatr 2021 Apr 15;21(1):175. Epub 2021 Apr 15.

Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.

Background: Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Read More

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Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.

Biochimie 2021 Apr 12. Epub 2021 Apr 12.

Nencki Institute of Experimental Biology, Pasteur Street 3, 02-093, Warsaw, Poland.

Glycogen storage disease type IV (GSD IV) is caused by mutations in the glycogen branching enzyme gene (GBE1) that lead to the accumulation of aberrant glycogen in affected tissues, mostly in the liver. To determine whether dysfunctional glycogen metabolism in GSD IV affects other components of cellular bioenergetics, we studied mitochondrial function in heterozygous Gbe1 knockout (Gbe1) mice. Mitochondria isolated from the livers of Gbe1 mice showed elevated respiratory complex I activity and increased reactive oxygen species production, particularly by respiratory chain complex III. Read More

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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center study and the generation of www.emergencyprotocol.net.

J Inherit Metab Dis 2021 Apr 12. Epub 2021 Apr 12.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

Introduction: Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking.

Methods: This is a retrospective, observational, single-center study of the use of emergency letters based on a generic emergency protocol in patients with hepatic glycogen storage diseases (GSD) or fatty acid oxidation disorders (FAOD). Read More

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A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: recommended outcome parameters for glucose management.

J Inherit Metab Dis 2021 Apr 8. Epub 2021 Apr 8.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Continuous glucose monitoring (CGM) systems have great potential for real-time assessment of glycaemic variation in patients with hepatic glycogen storage disease (GSD). However, detailed descriptions and in-depth analysis of CGM data from hepatic GSD patients during interventions are scarce. This is a retrospective in-depth analysis of CGM parameters, acquired in a continuous, real-time fashion describing glucose management in 15 individual GSD patients. Read More

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Association of non-alcoholic fatty liver disease with gallstone disease in the United States hospitalized patient population.

World J Gastrointest Pathophysiol 2021 Mar;12(2):14-24

Department of Gastroenterology, Henry Ford Hospital, Detroit, MI 48202, United States.

Background: Gallstones and cholecystectomy have been proposed as risk factors for non-alcoholic fatty liver disease (NAFLD). The reason for this may be that both gallstones, as well as NAFLD share several risk factors with regards to their development. Currently, there is a lack of sufficient evidence showing an association between these clinical conditions. Read More

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Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

Diagnostics (Basel) 2021 Mar 12;11(3). Epub 2021 Mar 12.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.

Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature.

Results: We report on two non-related Turkish patients with a novel homozygous splice site variant, c. Read More

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Evidence-Supported HBO Therapy in Femoral Head Necrosis: A Systematic Review and Meta-Analysis.

Int J Environ Res Public Health 2021 Mar 12;18(6). Epub 2021 Mar 12.

Environmental and Respiratory Physiology Lab and II Level Master in Diving and Hyperbaric Medicine, Department of Biomedical Sciences, University of Padova, 35122 Padova, Italy.

Although many studies have shown that hyperbaric oxygen (HBO) therapy can significantly improve symptoms and quality of life of patients affected by femoral head necrosis, this therapy is not worldwide approved yet. This meta-analysis was performed to evaluate its clinical effect. Relevant studies published before May 2020 were systematically searched using terms related to HBO and femoral head necrosis. Read More

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The Instrument Design of Lightweight and Large Field of View High-Resolution Hyperspectral Camera.

Sensors (Basel) 2021 Mar 24;21(7). Epub 2021 Mar 24.

Changchun Institute of Optics, Fine Mechanics and Physics, Chinese Academy of Sciences, Changchun 130033, China.

The design of compact hyperspectral cameras with high ground resolution and large field of view (FOV) is a challenging problem in the field of remote sensing. In this paper, the time-delayed integration (TDI) of the digital domain is applied to solve the issue of insufficient light energy brought by high spatial resolution, and a hyperspectral camera with linear variable filters suitable for digital domain TDI technology is further designed. The camera has a wavelength range of 450-950 nm, with an average spectral resolution of 10. Read More

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A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.

J Neurol Sci 2021 Mar 18;424:117391. Epub 2021 Mar 18.

APHP-GH Pitié-Salpêtrière, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Myology Institute, Paris, France. Electronic address:

Muscle phosphorylase kinase b deficiency (PhK) is a rare disorder of glycogen metabolism characterized by exercise-induced myalgia and cramps, myoglobinuria and progressive muscle weakness. PhK deficiency is due to mutations in the PHKA1 gene inherited in an X-linked manner and is associated to glycogenosis type VIII (GSD VIII also called GSD IXd). PHKA1 gene codes for the αM subunit of the PhK, a multimeric protein complex responsible for the control of glycogen breakdown in muscle. Read More

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Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.

Sci Rep 2021 Mar 29;11(1):7040. Epub 2021 Mar 29.

Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.

Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping. Read More

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Causal effects of gallstone disease on risk of gastrointestinal cancer in Chinese.

Br J Cancer 2021 Mar 26. Epub 2021 Mar 26.

Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Centre, Beijing, China.

Background: Gallstone disease (GSD) is associated with a higher risk of gastrointestinal (GI) cancer. However, it is unclear whether the associations are causal.

Methods: The prospective China Kadoorie Biobank (CKB) recorded 17,598 cases of GI cancer among 510,137 participants without cancer at baseline during 10 years of follow-up. Read More

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With or Without W? Molecular and Cytogenetic Markers are Not Sufficient for Identification of Environmentally-Induced Sex Reversal in the Bearded Dragon.

Sex Dev 2021 Mar 23:1-10. Epub 2021 Mar 23.

Department of Ecology, Faculty of Science, Charles University, Prague, Czechia,

Transitions from environmental sex determination (ESD) to genotypic sex determination (GSD) require an intermediate step of sex reversal, i.e., the production of individuals with a mismatch between the ancestral genotypic and the phenotypic sex. Read More

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Gender self-confidence, scholastic stress, life satisfaction, and perceived academic achievement for adolescent New Zealanders.

J Adolesc 2021 Apr 21;88:120-133. Epub 2021 Mar 21.

School of Learning, Development and Professional Practice, Faculty of Education and Social Work, The University of Auckland, Private Bag 92601, Auckland, 1150, New Zealand.

Introduction: Confidence in one's gender self-concept has been positively associated with subjective well-being. Further, negative consequences for school life have occurred for adolescents with marginalised gender identities. As a central process variable of subjective well-being, life satisfaction has been positively associated with educational outcomes and inversely associated with stress. Read More

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Estimation of radiation gonadal doses for the American-Ukrainian trio study of parental irradiation in Chornobyl cleanup workers and evacuees and germline mutations in their offspring.

J Radiol Prot 2021 Mar 22. Epub 2021 Mar 22.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Room 7E548 MSC 9778, Bethesda, Maryland, 20892-9778 , UNITED STATES.

Radiation doses of parents exposed from the Chornobyl accident as cleanup workers or evacuees were estimated in the NCI-NRCRM trio (i.e. father, mother, offspring) study aimed at investigating the radiation effects on germline de novo mutations in children as well as other outcomes. Read More

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Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.

J Inherit Metab Dis 2021 Mar 19. Epub 2021 Mar 19.

Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Prevention of hypertriglyceridemia is one of the biomedical targets in Glycogen Storage Disease type Ia (GSD Ia) patients, yet it is unclear how hypoglycemia links to plasma triglyceride (TG) levels. We analyzed whole-body TG metabolism in normoglycemic (fed) and hypoglycemic (fasted) hepatocyte-specific glucose-6-phosphatase deficient (L-G6pc ) mice. De novo fatty acid synthesis contributed substantially to hepatic TG accumulation in normoglycemic L-G6pc mice. Read More

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Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.

BMC Med Genomics 2021 Mar 17;14(1):81. Epub 2021 Mar 17.

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib).

Case Presentation: This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Read More

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Diurnal variability of glucose tetrasaccharide (Glc) excretion in patients with glycogen storage disease type III.

JIMD Rep 2021 Mar 3;58(1):37-43. Epub 2020 Nov 3.

Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA.

Aim: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc), is a glycogen limit dextrin that is elevated in patients with glycogen storage disease (GSD) type III. We evaluated the potential of uncooked cornstarch therapy to interfere with Glc monitoring, by measuring the diurnal variability of Glc excretion in patients with GSD III.

Methods: Voids were collected at home over 24 hours, stored at 4°C and frozen within 48 hours. Read More

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Chromosome-length genome assembly and structural variations of the primal Basenji dog (Canis lupus familiaris) genome.

BMC Genomics 2021 Mar 16;22(1):188. Epub 2021 Mar 16.

Department of Ecology, Environment and Evolution, La Trobe University, Melbourne, Victoria, 3086, Australia.

Background: Basenjis are considered an ancient dog breed of central African origins that still live and hunt with tribesmen in the African Congo. Nicknamed the barkless dog, Basenjis possess unique phylogeny, geographical origins and traits, making their genome structure of great interest. The increasing number of available canid reference genomes allows us to examine the impact the choice of reference genome makes with regard to reference genome quality and breed relatedness. Read More

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Clinical and echocardiographic outcomes after percutaneous closure of patent foramen ovale: a single centre experience.

Minerva Cardiol Angiol 2021 Mar 11. Epub 2021 Mar 11.

Division of Thoracic and Cardiovascular Surgery, Pontchaillou University Hospital, Rennes, France -

Background: Patent Foramen Ovale (PFO) has a high estimated prevalence (25% of the general population) and has been implicated in the pathogenesis of cryptogenic stroke and transient ischemic attack (TIA), as well as in the pathogenesis of migraine headache. This study evaluated the effectiveness of percutaneous transcatheter PFO closure with Amplatzer devices, from a large single-center experience.

Methods: from January 1998 to December 2014, 577 patients (243 males and 334 females, mean age 50 years, range 11-82 years) with documented PFO and history of at least one episode of cryptogenic stroke/TIA (n=356) or occasional finding of previous ischemic lesions on MRI (n=221) underwent percutaneous transcatheter closure of PFO using an Amplatzer™ Occluder. Read More

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A Multi-variate Mathematical Model for Simulating the Granule Size Distribution in Roller Compaction-Milling Process.

AAPS PharmSciTech 2021 Mar 10;22(3):97. Epub 2021 Mar 10.

Integrated Material Science & Technology, Drug Product Development, Bristol-Myers Squibb, 556 Morris Avenue, Summit, New Jersey, 07901, USA.

Granule size distribution (GSD) is one of the critical quality attributes in the roller compaction (RC) process. Determination of GSD for newly developed pharmaceutical compounds with unknown ribbon breakage behaviors at the RC milling step requires a quantitative insight into process parameters and ribbon attributes. Despite its pivotal role in mapping the process operating conditions to achieve desired granule size, limited work has been presented in literature with a focus on RC-milling modeling. Read More

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Gorham-Stout disease: interesting cause of pleural effusion.

BMJ Case Rep 2021 Mar 10;14(3). Epub 2021 Mar 10.

Internal Medicine, Cooper University Health Care, Camden, New Jersey, USA.

Gorham-Stout disease (GSD) is a rare disorder characterised by massive painless osteolysis due to lymphangiomatous tissue progression. GSD's pathogenesis is still unclear, but osteoclasts' activation may play a role in its pathogenesis. There are multiple complications associated with GSD. Read More

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Ground-State Depletion Nanoscopy of Nitrogen-Vacancy Centres in Nanodiamonds.

Nanoscale Res Lett 2021 Mar 10;16(1):44. Epub 2021 Mar 10.

Optical Sciences Centre, Faculty of Science, Engineering and Technology, Swinburne University of Technology, PO Box 218, Hawthorn, VIC, 3122, Australia.

The negatively charged nitrogen-vacancy ([Formula: see text]) centre in nanodiamonds (NDs) has been recently studied for applications in cellular imaging due to its better photo-stability and biocompatibility if compared to other fluorophores. Super-resolution imaging achieving 20-nm resolution of [Formula: see text] in NDs has been proved over the years using sub-diffraction limited imaging approaches such as single molecule stochastic localisation microscopy and stimulated emission depletion microscopy. Here we show the first demonstration of ground-state depletion (GSD) nanoscopy of these centres in NDs using three beams, a probe beam, a depletion beam and a reset beam. Read More

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Liver Transplantation for Glycogen Storage Disease Type IV.

Authors:
Min Liu Li-Ying Sun

Front Pediatr 2021 19;9:633822. Epub 2021 Feb 19.

Department of Liver Transplantation Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen-branching enzyme (GBE) deficiency, leading to accumulation of amylopectin-like glycogen that may damage affected tissues. The clinical manifestations of GSD IV are heterogeneous; one of which is the classic manifestation of progressive hepatic fibrosis. There is no specific treatment available for GSD IV. Read More

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February 2021

Dry Mopping vs. Saline Irrigation of Gallbladder Fossa After Bile Spillage During Laparoscopic Cholecystectomy: Randomized Control Trial.

Cureus 2021 Feb 1;13(2):e13059. Epub 2021 Feb 1.

Surgery, Holy Family Hospital, Rawalpindi, PAK.

Introduction The laparoscopic approach, as compared to open cholecystectomy, is still considered the gold standard, despite a higher incidence of micro insults. The most common approach to treat spilled biliary contents and lost stones in laparoscopic cholecystectomy is the retrieval of the stone through an open approach, or laparoscopically, ending with a peritoneal wash and aspiration. Material and methods We conducted a double-blinded randomized controlled trial. Read More

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February 2021

Nutrition in Chronic Liver Disease: Consensus Statement of the Indian National Association for Study of the Liver.

J Clin Exp Hepatol 2021 Jan-Feb;11(1):97-143. Epub 2020 Oct 1.

Institute of Liver & Digestive Diseases, BL Kapur Memorial Hospital, New Delhi, 110005, India.

Malnutrition and sarcopenia are common in patients with chronic liver disease and are associated with increased risk of decompensation, infections, wait-list mortality and poorer outcomes after liver transplantation. Assessment of nutritional status and management of malnutrition are therefore essential to improve outcomes in patients with chronic liver disease. This consensus statement of the Indian National Association for Study of the Liver provides a comprehensive review of nutrition in chronic liver disease and gives recommendations for nutritional screening and treatment in specific clinical scenarios of malnutrition in cirrhosis in adults as well as children with chronic liver disease and metabolic disorders. Read More

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October 2020

Aldolase A deficiency: Report of new cases and literature review.

Mol Genet Metab Rep 2021 Jun 23;27:100730. Epub 2021 Feb 23.

1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Greece.

Aldolase A (ALDOA), is the predominant isoform of aldolase in skeletal muscle and erythrocytes that catalyzes the reversibleconversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate. Autosomal recessive mutations in are extremely rare and cause hemolytic anemia and/or recurrent episodes of rhabdomyolysis, usually precipitated by fever. In this report we describe, clinical, laboratory and genetic data of two novel unrelated patients harboring mutations in the gene who presented with episodic rhabdomyolysis, we review all previously published cases and discuss the most valuable features for diagnosis of this rare disorder. Read More

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Metabolomics shows the Australian dingo has a unique plasma profile.

Sci Rep 2021 Mar 4;11(1):5245. Epub 2021 Mar 4.

Department of Ecology, Environment and Evolution, La Trobe University, Bundoora, VIC, 3086, Australia.

Dingoes occupy a wide range of the Australian mainland and play a crucial role as an apex predator with a generalist omnivorous feeding behaviour. Dingoes are ecologically, phenotypically and behaviourally distinct from modern breed dogs and have not undergone artificial selection since their arrival in Australia. In contrast, humans have selected breed dogs for novel and desirable traits. Read More

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Gorham-Stout Disease Resulting in Spinal Deformity Treated by Fusion Surgery Combined With Everolimus Therapy: A Case Report.

JBJS Case Connect 2021 03 3;11(1). Epub 2021 Mar 3.

Department of Orthopedic Surgery, Keio University School of Medicine, Shinjuku, Tokyo, Japan.

Case: Gorham-Stout disease (GSD) is a rare disorder characterized by progressive localized osteolysis and lymphatic malformation. A 26-year-old woman with GSD presented to our hospital with a Cobb angle of 100° and a kyphosis angle of 88°. Everolimus therapy was initiated to control the disease prior to surgery. Read More

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Acute and delayed anterior cruciate ligament repair results in similar short to mid-term outcomes.

Knee 2021 Feb 21;29:142-149. Epub 2021 Feb 21.

Hospital for Special Surgery, Department of Orthopaedic Surgery, New York, United States. Electronic address:

Background: To assess whether primary repair of proximal ACL tears in the delayed setting leads to similar clinical and functional outcomes as compared to ACL repair in the acute setting.

Methods: All patients with proximal tears with good tissue quality treated in the acute (≤3 weeks post-injury) and delayed setting (>3 months post-injury) were retrospectively reviewed at minimum 2-year follow-up. Ipsilateral reinjury or reoperation and contralateral injury rates were recorded. Read More

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February 2021

Interhemispheric interactions between the right angular gyrus and the left motor cortex: a transcranial magnetic stimulation study.

J Neurophysiol 2021 Apr 24;125(4):1236-1250. Epub 2021 Feb 24.

Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

The interconnection of the angular gyrus of right posterior parietal cortex (PPC) and the left motor cortex (LM1) is essential for goal-directed hand movements. Previous work with transcranial magnetic stimulation (TMS) showed that right PPC stimulation increases LM1 excitability, but right PPC followed by left PPC-LM1 stimulation (LPPC-LM1) inhibits LM1 corticospinal output compared with LPPC-LM1 alone. It is not clear if right PPC-mediated inhibition of LPPC-LM1 is due to inhibition of left PPC or to combined effects of right and left PPC stimulation on LM1 excitability. Read More

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