Article
Orthopedics
Sandra Rafaela Breyer, Eik Vettorazzi, Leonie Schmitz, Amit Gulati, Katharina Maria von Cossel, Alexander Spiro, Martin Rupprecht, Ralf Stuecker, Nicole Maria Muschol
Summary: This study revealed a high prevalence of hip pathologies in MPS III patients, with a significant correlation between severe phenotype and hip dysplasia with osteonecrosis of the femoral head. Radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS III patients.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2021)
Article
Health Care Sciences & Services
Hsiang-Yu Lin, Ya-Hui Chang, Chung-Lin Lee, Yuan-Rong Tu, Yun-Ting Lo, Pei-Wen Hung, Dau-Ming Niu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Chih-Kuang Chuang, Shuan-Pei Lin
Summary: This study collected and analyzed long-term follow-up data of MPS II positive cases in Taiwan's newborn screening program. The results showed that early diagnosis and timely treatment can improve the clinical outcomes of MPS II patients.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Immunology
Aleksandra Pettke, Finn Filen, Katarina Widgren, Andreas Jacks, Hedvig Glans, Sofia Andreasson, Shaman Muradrasoli, Sofia Helgesson, Elenor Hauzenberger, Maria Lind Karlberg, Noura Walai, Annelie Bjerkner, Hadrien Gourle, Sara Gredmark-Russ, Oskar Karlsson Lindsjo, Klara Sonden, Hilmir Asgeirsson
Summary: A previously healthy male patient had detectable monkeypox virus DNA in saliva 76 days after infection confirmation in the laboratory. A comprehensive characterization of viral kinetics and detailed follow-up showed a decreasing risk of transmission in the weeks following the appearance of monkeypox symptoms.
EMERGING INFECTIOUS DISEASES
(2022)
Article
Health Care Sciences & Services
Min-Sun Kim, Aram Yang, Eu-Seon Noh, Chiwoo Kim, Ga Young Bae, Han Hyuk Lim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
Summary: This study analyzed the genetic and clinical characteristics of MPS III patients in Korea for the first time, revealing the natural history of the disease. The findings contribute to early diagnosis, timely management, and evaluation of treatment outcomes in future clinical trials for MPS III.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Endocrinology & Metabolism
Sabine Naessen, Malin Eliasson, Kerstin Berntorp, Margareta Kitlinski, Penelope Trimpou, Emily Amundson, Sofia Thunstrom, Bertil Ekman, Jeanette Wahlberg, Anders Karlsson, Magnus Isaksson, Ingrid Bergstrom, Carina Levelind, Inger Bryman, Kerstin Landin-Wilhelmsen
Summary: This study investigated the prevalence of autoimmune diseases in Turner syndrome (TS). The results showed that more than half of TS women developed hypothyroidism, mainly autoimmune, during the follow-up period. It is recommended to raise awareness of vitamin B-12 deficiency and celiac disease in TS women throughout their lives.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Medicine, General & Internal
Sophie Thomas, Uma Ramaswami, Maureen Cleary, Medeah Yaqub, Eva M. Raebel
Summary: MPS III, a rare lysosomal storage disorder, may have GI manifestations as an important cause of death. Early recognition and intervention of GI symptoms are crucial for the management of MPS III patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Biophysics
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P. Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valerie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothee de Saint-Denis, Stephanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stephane Blanche, Jean-Hugues Dalle, Benedicte Neven, Pascale de Lonlay, Anais Brassier
Summary: MPS I-H is a rare lysosomal storage disorder caused by alpha-L-Iduronidase deficiency. Early hematopoietic stem cell transplantation (HSCT) is the only available therapeutic option to preserve neurocognitive functions. A long-term follow-up of MPS I-H patients who underwent HSCT showed good outcomes in terms of chimerism, enzyme activity, language acquisition, and socio-professional insertion. However, skeletal dysplasia and sensory impairments progressed despite HSCT, indicating the need for further treatment options such as gene therapy.
BONE MARROW TRANSPLANTATION
(2023)
Article
Cardiac & Cardiovascular Systems
Caren S. Goldberg, Felicia Trachtenberg, J. William Gaynor, William T. Mahle, Chitra Ravishankar, Steven M. Schwartz, James F. Cnota, Richard G. Ohye, Russell Gongwer, Michael Taylor, Stephen Paridon, Peter C. Frommelt, Katherine Afton, Andrew M. Atz, Kristin M. Burns, Jon A. Detterich, Kevin D. Hill, Antonio G. Cabrera, Alan B. Lewis, Christian Pizarro, Amee Shah, Binu Sharma, Jane W. Newburger, Pediat Heart Network Investigators
Summary: In the SVR trial, newborns with hypoplastic left heart syndrome were randomly assigned to different shunt types during Norwood operation. By 12 years post-operation, the type of shunt had minimal association with right ventricular function, exercise performance, complication rates, and transplant-free survival. Innovative strategies are needed to improve long-term outcomes in these patients.
Article
Endocrinology & Metabolism
Ingeborg Waernbaum, Torbjorn Lind, Anna Mollsten, Gisela Dahlquist
Summary: The incidence of childhood-onset type 1 diabetes in Sweden has reached a stable but high level in the past two decades, with a plateau between 2005 and 2019. Increased migration from countries with lower incidence rates cannot fully explain this leveling off.
Article
Mathematical & Computational Biology
Ewa Strzalkowska-Kominiak, Juan Romo
Summary: Functional data analysis is important in medical research due to patient follow-up over time. This study introduces an estimator for mean function using partly observed data, which is model-free and fully nonparametric. Extensive simulation shows the method outperforms existing approaches, and is applied to real data on lung growth in girls in the US.
STATISTICS IN MEDICINE
(2021)
Review
Rheumatology
Hsiu Yen Tung, James Galloway, Faith Matcham, Matthew Hotopf, Sam Norton
Summary: This scoping review focused on research in musculoskeletal disorders with high frequency follow-up of symptoms. The majority of studies examined short-term effects of symptoms on each other, but there is a lack of research on the long-term effects of symptom variability. Further research in this area is needed to help clinicians prioritize symptoms in patient care.
Article
Nutrition & Dietetics
Hyo Geun Choi, Juyong Chung, Dae Myoung Yoo, Chang Ho Lee, So Young Kim
Summary: This study found that adults with Meniere's disease are at a higher risk of osteoporosis, and adults with osteoporosis are also at a higher risk of Meniere's disease.
Review
Ophthalmology
Frances Meier-Gibbons, Marc Toteberg-Harms
Summary: This review provides an overview of the follow-up studies to landmark studies on the treatment concept of glaucoma, lowering intraocular pressure, from the last 18 months. These studies have identified risk factors for visual field deterioration, such as bilateral disease, disc hemorrhages, and higher intraocular pressure. Demographic factors, comorbidity, and clinical variables associated with visual field damage have also been identified. In addition, the article discusses the findings of other follow-up studies to landmark studies in glaucoma.
CURRENT OPINION IN OPHTHALMOLOGY
(2023)
Review
Medical Laboratory Technology
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina
Summary: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease caused by a deficiency of alpha-L-iduronidase. Early identification through newborn screening and intervention can prevent irreversible manifestations. Despite some limitations, screening programs have been implemented worldwide, contributing to a favorable risk-benefit ratio and improved disease management.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Francesca D'Avanzo, Alessandra Zanetti, Concetta De Filippis, Rosella Tomanin
Summary: Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a rare autosomal recessive genetic disease mainly affecting pediatric age group. It is caused by enzyme deficit leading to pathological accumulation starting from the osteoarticular apparatus, emphasizing the need for new disease biomarkers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)