4.2 Letter

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 182, Issue 3, Pages 579-583

Publisher

WILEY
DOI: 10.1002/ajmg.a.61413

Keywords

-

Funding

  1. RhizoKids International

Ask authors/readers for more resources

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.2
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

Article Genetics & Heredity

A multicenter study to evaluate pain characteristics in osteogenesis imperfecta

Mercedes Rodriguez Celin, Karen M. Kruger, Angela Caudill, Chaya N. Murali, Sandesh C. S. Nagamani, Peter A. Smith, Gerald F. Harris

Summary: The objective of this study was to examine the pain characteristics and treatments used in individuals with osteogenesis imperfecta (OI) of varying severity and investigate the variables associated with chronic pain. The results showed that chronic pain is prevalent in all types of OI, affecting mobility and interfering with participation. Age, use of a wheelchair, and the number of fractures per year were identified as predictors of chronic pain for all OI types.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)

Article Biochemistry & Molecular Biology

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency

Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer, Wedad Fallatah, Mireia Perera-Gonzalez, Ouafa Hamza, Theresa Koenig, Michael B. Bober, Tiscar Cavalle-Garrido, Nancy E. Braverman, Sonja Forss-Petter, Christian Pifl, Jan Bauer, Reginald E. Bittner, Thomas H. Helbich, Bruno K. Podesser, Hannes Todt, Johannes Berger

Summary: The deficiency in ether lipids can cause severe symptoms in humans and the mouse model has been used to study the pathophysiology of the disease. However, the exact role of ether lipids in the cardiac tissue is still unknown. This study found that ether lipid deficiency can lead to cardiac abnormalities in both mice and human patients, but the manifestations are heterogeneous and differ between the two.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

Article Anesthesiology

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study

Mary C. Theroux, Sabina Dicindio, Lauren W. Averill, Christian Pizarro, Abraham Oommen, Michael B. Bober, Colleen Ditro, Jeffrey Campbell, Angela L. Duker, Taylor Jones, Vandna Passi, Patrick Barth, Richard J. Schmidt, Mary Little, Stuart Mackenzie, Shunji Tomatsu, William G. Mackenzie

Summary: This study found clinically significant tracheal narrowing in patients with Morquio A, and the degree of narrowing likely contributed to difficulties with airway management during anesthesia care. Tracheal narrowing worsens with age, but the progression slows down after 20 years of age. In addition to tracheal narrowing, spirometry values of FEF25%-75% may be helpful in the overall evaluation of the airway in patients with Morquio A.

ANESTHESIA AND ANALGESIA (2023)

Letter Immunology

Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III

Neha Sirohi, Angela L. Duker, Michael B. Bober, Magee L. DeFelice

JOURNAL OF CLINICAL IMMUNOLOGY (2023)

Review Genetics & Heredity

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha Prince, Oliver Semler

Summary: This review examines the clinical, humanistic, and economic impact of osteogenesis imperfecta (OI) on individuals, their families, and wider society. The study found that while there is detailed information on the clinical aspects of OI, research on current treatment practices, interactions with the healthcare system, and the socioeconomic impact of OI is limited.

ORPHANET JOURNAL OF RARE DISEASES (2023)

Article Medicine, Research & Experimental

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Oliver Semler, Valerie Cormier-Daire, Ekkehart Lausch, Michael B. Bober, Ricki Carroll, Sergio B. Sousa, David Deyle, Maha Faden, Gabriele Hartmann, Aaron J. Huser, Janet M. Legare, Klaus Mohnike, Tilman R. Rohrer, Frank Rutsch, Pamela Smith, Andre M. Travessa, Angela Verardo, Klane K. White, William R. Wilcox, Julie Hoover-Fong

Summary: This article explores the real-world use of vosoritide and highlights the importance of multidisciplinary support and patient/family education. It also acknowledges regional differences in practices and considerations for vosoritide, including dose monitoring and timing of assessments.

ADVANCES IN THERAPY (2023)

Article Endocrinology & Metabolism

Identification of potential non-invasive biomarkers in diastrophic dysplasia

Chiara Paganini, Ricki S. Carroll, Chiara Gramegna Tota, Andrea J. Schelhaas, Alessandra Leone, Angela L. Duker, David A. O'Connell, Ryan F. Coghlan, Brian Johnstone, Carlos R. Ferreira, Sabrina Peressini, Riccardo Albertini, Antonella Forlino, Luisa Bonafe, Ana Belinda Campos-Xavier, Andrea Superti-Furga, Andreas Zankl, Antonio Rossi, Michael B. Bober

Summary: Diastrophic dysplasia (DTD) is a genetic disorder caused by pathogenic variants in the SLC26A2 gene, which affects sulfate uptake and glycosaminoglycan (GAG) sulfation. This study investigated urinary GAG sulfation and blood collagen X marker (CXM) levels as potential biomarkers for DTD.
Article Genetics & Heredity

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Bobby K. Brar, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Lorena Dujmusic, Mary E. Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Janet M. Legare, Julie E. Hoover-Fong

Summary: This study aimed to determine whether the route of delivery affects postnatal achondroplasia-related surgical burden in pregnancies affected by maternal or fetal achondroplasia. The study found no difference in the risk of postnatal surgical interventions between vaginal delivery and cesarean birth, even for average stature mothers.

GENETICS IN MEDICINE (2023)

Article Dentistry, Oral Surgery & Medicine

Cranio-cervical abnormalities in moderate-to- severe osteogenesis imperfecta -Genotypic and phenotypic determinants

Juliana Marulanda, Jean-Marc Retrouvey, Brendan Lee, V. Reid Sutton, Frank Rauch, Michelle Briner

Summary: This study used CBCT scans to assess cranio-cervical anomalies and clinical findings in patients with moderate-to-severe OI. The results showed that patients with OI had a flatter cranial base and a higher prevalence of odontoid process abnormalities compared to healthy controls. Low stature, presence of DI, and being male were strong predictors of cranio-cervical anomalies in OI patients.

ORTHODONTICS & CRANIOFACIAL RESEARCH (2023)

Article Endocrinology & Metabolism

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober

Summary: This study explored the differences in cytokine levels between individuals with skeletal dysplasia and typically growing controls. The results showed that four cytokines were expressed at higher levels in individuals with skeletal dysplasia, while two cytokines were expressed at lower levels. These findings provide a foundation for further research on skeletal dysplasia and may offer new insights into clinical biomarkers or therapeutics.

JBMR PLUS (2023)

Article Endocrinology & Metabolism

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia

Ricki S. Carroll, Robert C. Olney, Angela L. Duker, Ryan F. Coghlan, William G. Mackenzie, Colleen P. Ditro, Cassondra J. Brown, David A. O'Connell, William A. Horton, Brian Johnstone, Eric A. Espiner, Timothy C. R. Prickett, Michael B. Bober

Summary: This study aimed to measure the levels of collagen X marker (CXM) in patients with dwarfism caused by FGFR3-opathies. The results showed that children with achondroplasia had significantly decreased levels of CXM compared to the control group, and the temporal patterns of change in CXM levels were dependent on sex.

CALCIFIED TISSUE INTERNATIONAL (2022)

No Data Available