The surgical management of spinal disorders in lysosomal storage diseases: a systematic review

2022 ◽  
Author(s):  
Samuel Abbot ◽  
Nicole Williams
Keyword(s):  
Systematic Review ◽  
Surgical Management ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Spinal Disorders ◽  
Storage Diseases

PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL

2016 ◽  
Vol 32 (6) ◽  
pp. 393-399
Author(s):  
Patricia A. Miller ◽  
Sohail M. Mulla ◽  
Thomasin Adams-Webber ◽  
Yasmin Sivji ◽  
Gordon H. Guyatt ◽  
...  
Keyword(s):  
Systematic Review ◽  
Patient Reported Outcomes ◽  
Lysosomal Storage Diseases ◽  
Type I ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Patient Reported ◽  
Challenges And Opportunities ◽  
The Impact ◽  
Disease Specific

Objectives: To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II).Methods: Researchers and HTA experts who responded to an email invitation participated in a telephone interview. We used qualitative content analysis to analyze the anonymized transcripts. We conducted a comprehensive literature search for studies that used PROs to investigate burden of disease or to assess the impact of interventions across the five LSDs of interest.Results: Interviews with seven researchers and six HTA experts representing eight countries revealed five themes. These were: (i) the importance of using psychometrically sound PROs in studies with rare diseases, (ii) the paucity of disease-specific PROs, (iii) the importance of having PRO data for economic analyses, (iv) practical and psychometric limitations of existing PROs, and (v) suggestions for new PROs. The systematic review has been completed.Conclusions: The interviews highlight current challenges and opportunities experienced by researchers and HTA experts involved in work with rare LSDs. The ongoing systematic review will highlight the experience, opportunities, and limitations of PROs in LSDs and provide suggestions for future research.

Electron Microscopy in the diagnosis of lysosomal storage diseases

1989 ◽  
Vol 47 ◽  
pp. 866-867
Author(s):  
Carole Vogler ◽  
Harvey S. Rosenberg
Keyword(s):  
Electron Microscopy ◽  
Lysosomal Enzyme ◽  
Rectal Mucosa ◽  
Lysosomal Storage Diseases ◽  
Cell Types ◽  
Lysosomal Storage ◽  
Storage Material ◽  
Ultrastructural Examination ◽  
Blood Leukocytes ◽  
Storage Diseases

Diagnostic procedures for evaluation of patients with lysosomal storage diseases (LSD) seek to identify a deficiency of a responsible lysosomal enzyme or accumulation of a substance that requires the missing enzyme for degradation. Most patients with LSD have progressive neurological degeneration and may have a variety of musculoskeletal and visceral abnormalities. In the LSD, the abnormally diminished lysosomal enzyme results in accumulation of unmetabolized catabolites in distended lysosomes. Because of the subcellular morphology and size of lysosomes, electron microscopy is an ideal tool to study tissue from patients with suspected LSD. In patients with LSD all cells lack the specific lysosomal enzyme but the distribution of storage material is dependent on the extent of catabolism of the substrate in each cell type under normal circumstances. Lysosmal storages diseases affect many cell types and tissues. Storage material though does not accumulate in all tissues and cell types and may be different biochemically and morphologically in different tissues.Conjunctiva, skin, rectal mucosa and peripheral blood leukocytes may show ultrastructural evidence of lysosomal storage even in the absence of clinical findings and thus any of these tissues can be used for ultrastructural examination in the diagnostic evaluation of patients with suspected LSD. Biopsy of skin and conjunctiva are easily obtained and provide multiple cell types including endothelium, epithelium, fibroblasts and nerves for ultrastructural study. Fibroblasts from skin and conjunctiva can also be utilized for the initiation of tissue cultures for chemical assays. Brain biopsy has been largely replaced by biopsy of more readily obtained tissue and by biochemical assays. Such assays though may give equivical or nondiagnostic results and in some lysosomal storage diseases an enzyme defect has not yet been identified and diagnoses can be made only by ultrastructural examination.

The role of surfactant and distal lung dysfunction in the pathology of lysosomal storage diseases

2021 ◽  
pp. 100467
Author(s):  
Tamara L Paget ◽  
Emma J Parkinson-Lawrence ◽  
Sandra Orgeig
Keyword(s):  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Lung Dysfunction ◽  
Distal Lung

scholarly journals Sphingolipid lysosomal storage diseases: from bench to bedside

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Muna Abed Rabbo ◽  
Yara Khodour ◽  
Laurie S. Kaguni ◽  
Johnny Stiban
Keyword(s):  
Basic Research ◽  
Lysosomal Storage Diseases ◽  
Therapeutic Strategies ◽  
Clinical Applications ◽  
Late Nineteenth Century ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
The Past ◽  
Health And Disease ◽  
General Aspects

AbstractJohann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability. Currently, sphingolipids and their metabolism are hotly debated topics in various biochemical fields. Similar to other macromolecular reactions, SL metabolism has important implications in health and disease in most cells. A plethora of SL-related genetic ailments has been described. Defects in SL catabolism can cause the accumulation of SLs, leading to many types of lysosomal storage diseases (LSDs) collectively called sphingolipidoses. These diseases mainly impact the neuronal and immune systems, but other systems can be affected as well. This review aims to present a comprehensive, up-to-date picture of the rapidly growing field of sphingolipid LSDs, their etiology, pathology, and potential therapeutic strategies. We first describe LSDs biochemically and briefly discuss their catabolism, followed by general aspects of the major diseases such as Gaucher, Krabbe, Fabry, and Farber among others. We conclude with an overview of the available and potential future therapies for many of the diseases. We strive to present the most important and recent findings from basic research and clinical applications, and to provide a valuable source for understanding these disorders.

Co-existence of lysosomal storage diseases in a consanguineous family

2001 ◽  
Vol 27 (2) ◽  
pp. 173-181 ◽  
Author(s):  
R Guy ◽  
J M Forsyth ◽  
A Cooper ◽  
R E Morton
Keyword(s):  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Consanguineous Family ◽  
Storage Diseases

Prenatal diagnosis of lysosomal storage diseases: A review of 23 cases

Pathology ◽  
1980 ◽  
Vol 12 (1) ◽  
pp. 139
Author(s):  
W.F. Carey ◽  
P.V. Nelson ◽  
A.C. Pollard
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases

The Ultrastructural Spectrum of Lysosomal Storage Diseases

1992 ◽  
Vol 16 (1-2) ◽  
pp. 231-244 ◽  
Author(s):  
Theodore C. Iancu
Keyword(s):  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases

scholarly journals Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

2016 ◽  
Vol 117 (2) ◽  
pp. 66-83 ◽  
Author(s):  
Priya S. Kishnani ◽  
Patricia I. Dickson ◽  
Laurie Muldowney ◽  
Jessica J. Lee ◽  
Amy Rosenberg ◽  
...  
Keyword(s):  
Immune Response ◽  
Immune Tolerance ◽  
Tolerance Induction ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Immune Tolerance Induction ◽  
Storage Diseases ◽  
Enzyme Replacement
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