Results 71 to 80 of about 2,011 (197)

Suspected Posttraumatic Mandibular Coronoid Hyperplasia and Condylar Hypoplasia: Two Case Reports and Literature Review

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Changes in the size of the coronoid process, due to hyperplasia or hypoplasia, may interfere with the normal range of mouth opening. Coronoid hyperplasia is a rare oral and maxillofacial disease which might result in progressive limitation of mouth opening due to the impingement of an abnormal elongated mandibular coronoid process on the zygomatic arch.
Areeg Elmusrati, Mariela Padilla, Asja Celebic   +2 more
wiley   +1 more source

A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension

Annals of Internal Medicine: Clinical Cases
Morquio syndrome, or mucopolysaccharidosis type IV (MPS IV), is a rare lysosomal storage disorder characterized by skeletal dysplasia and dysostosis multiplex.
Gauri Patel, Olakanmi Joseph Deleawe
doaj   +1 more source

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings

Diagnostics, 2020
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman   +8 more
doaj   +1 more source

Versatile and Efficient Protein Association Through Chemically Modified Sphingomyelin Nanosystems (SNs) for Enhanced Delivery

ChemBioChem, Volume 25, Issue 23, December 2, 2024.
Graphic representation of the work carried out in this research, the main objective of which was the development of a nanoplatform for the efficient delivery of proteins (Protein Sphingomyelin Nanosystems; P‐SNs), regardless of their molecular weight (MW), net charge, or isoelectric point (pI).
Marcelina Abal‐Sanisidro, Olaia Nieto‐García, Cristina Cotelo‐Costoya, María de la Fuente   +3 more
wiley   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

South African Journal of Radiology, 2012
Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III ...
umesh chandra parashari, sachin khanduri, samarjit bhadury, sugandha rawat   +3 more
doaj   +1 more source

Pain management challenges in a patient with mucopolysaccharidosis IVA

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
wiley   +1 more source

Widespread Vasculopathy in a Patient with Morquio A Syndrome [PDF]

Texas Heart Institute Journal, 2017
Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N-acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as ...
Adam W, Powell, Michael D, Taylor, T Andrew, Burrow, Robert J, Hopkin, Carlos E, Prada, John L, Jefferies   +5 more
openaire   +2 more sources

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study

JIMD Reports, Volume 65, Issue 2, Page 63-84, March 2024.
Abstract Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens.
Nahya Awada, Martin Holcik
wiley   +1 more source

Overcoming the barriers to diagnosis of Morquio A syndrome [PDF]

Orphanet Journal of Rare Diseases, 2014
Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a
Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew Sing, Fietz, Michael, Fu, Antony, Jin, Dong Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, Nancy J, Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Toh, Teck-Hock, Yang, Albert D, Lin, Shuan-Pei   +20 more
openaire   +2 more sources