Microcephalic primordial dwarfism is a group of disorders that result in growth restriction and multiple morbidities. The condition is subdivided into three categories, with microcephalic osteodysplastic primordial dwarfism type II (MOPDII) being the most prevalent. Globally, only a few cases have been reported, with only available information about these disorders described in the literature. In this case report, we present the clinical findings seen in an infant with MOPDII in Saudi Arabia with associated glucose-6-phosphate dehydrogenase deficiency hemolytic anemia.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697530 | PMC |
| http://dx.doi.org/10.7759/cureus.19829 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination.
Congenit Anom (Kyoto)
January 2025
Department of Histology and Embryology, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece.
The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels.
View Article and Find Full Text PDFSimultaneous Down-Regulation of Dominant Cinnamoyl CoA Reductase and Cinnamyl Alcohol Dehydrogenase Dramatically Altered Lignin Content in Mulberry.
Plants (Basel)
December 2024
Jiangsu Key Laboratory of Sericultural Biology and Biotechnology, School of Biotechnology, Jiangsu University of Science and Technology, Zhenjiang 212100, China.
Mulberry ( L.) is a significant economic tree species in China. The lignin component serves as a critical limiting factor that impacts both the forage quality and the conversion efficiency of mulberry biomass into biofuel.
View Article and Find Full Text PDFPML Nuclear Bodies and Cellular Senescence: A Comparative Study of Healthy and Premature Aging Syndrome Donors' Cells.
Cells
December 2024
Institute of Cytology of the Russian Academy of Sciences, Tikhoretsky av.4, 194064 St. Petersburg, Russia.
Natural aging and age-related diseases involve the acceleration of replicative aging, or senescence. Multiple proteins are known to participate in these processes, including the promyelocytic leukemia (PML) protein, which serves as a core component of nuclear-membrane-less organelles known as PML nuclear bodies (PML-NBs). In this work, morphological changes in PML-NBs and alterations in PML protein localization at the transition of primary fibroblasts to a replicative senescent state were studied by immunofluorescence.
View Article and Find Full Text PDFTake a Deep BReath: Manipulating brassinosteroid homeostasis helps cereals adapt to environmental stress.
Plant Physiol
January 2025
Institute of Biology, Biotechnology and Environmental Protection, Faculty of Natural Sciences, University of Silesia, Katowice, Poland.
Global climate change leads to the increased occurrence of environmental stress (including drought and heat stress) during the vegetative and reproductive stages of cereal crop development. Thus, more attention should be given to developing new cereal cultivars with improved tolerance to environmental stress. However, during the development of new stress-tolerant cereal cultivars, the balance between improved stress responses (which occur at the expense of growth) and plant yield needs to be maintained.
View Article and Find Full Text PDFInternational consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.
Nat Rev Endocrinol
January 2025
Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!