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Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.
View Article and Find Full Text PDFPrenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFUse of Marsupialization as a Definitive Treatment for Large-sized Dentigerous Cysts in a Patient with Mucopolysaccharidosis Type I.
Prague Med Rep
August 2024
Faculty of Dentistry, Federal University of Alfenas, UNIFAL-MG, Alfenas, Brazil.
The correct diagnosis is fundamental for the appropriate treatment to be employed in a particular pathology. The best treatment is not the one that solves only local problems, fragmenting the patient, and therefore, it is necessary to integrate the entire systemic condition of the individual before initiating any local treatment. This context inevitably requires dentistry to participate in a multidisciplinary approach, where the role of the dentist is expanded in concepts that encompass ethics, human dignity, and professional valorization.
View Article and Find Full Text PDFWhole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.
Mol Genet Genomic Med
August 2024
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Article Synopsis
- Mucopolysaccharidosis type I (MPS-I) is a genetic disorder caused by mutations in the IDUA gene, and this study aimed to investigate the genetic causes of MPS-I in a Chinese patient while creating a minigene for variant analysis.* -
- The research utilized whole-exome sequencing and Sanger sequencing to identify a novel splicing mutation in the IDUA gene, associated with paternal uniparental disomy (UPD) on chromosome 4, revealing important insights into the genetic transmission of the disorder.* -
- The study found that the mutation led to abnormal splicing events in mRNA, altering the protein structure, which expands the understanding of IDUA variants and may help improve
Mucopolysaccharidosis type I Hurler-Scheie syndrome: a case report.
Ann Med Surg (Lond)
January 2024
Tulsipur Bhimsen Metro Hospital, Tulsipur, Dang, Gujarat.
Introduction And Importance: Hurler syndrome, also known as mucopolysaccharidoses type I, is a rare autosomal recessive lysosomal storage disorder with decreased activities of α-L iduronidase, resulting in the accumulation of glycosaminoglycans (GAGs) within various tissues.
Case Presentation: The authors presented a case report of a 15-year-old male who presented with a lower respiratory tract infection and was admitted to the pediatrics department with a history of facial dysmorphism, skeletal abnormalities, and corneal clouding and below-normal cognitive function which is consistent with the Hurler-Scheie syndrome. Skeletal abnormalities include inverted j-shaped sella turcica, bullet-shaped phalanges, thoracolumbar kyphosis, and acetabular dysplasia.
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