PubMed · 4524358
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
L Lipski, M Pannbacker. 1974. Cleft palate parent groups.. https://pubmed.ncbi.nlm.nih.gov/4524358/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Recent studies have unveiled disrupted metabolism in the progression of cleft palate (CP), a congenital anomaly characterized by defective fusion of facial structures. Nonetheless, the precise composition of this disrupted metabolism remains elusive, prompting us to identify these components and elucidate primary metabolic irregularities contributing to CP pathogenesis. We established a murine CP model by retinoic acid (RA) treatment and analyzed control and RA-treated embryonic palatal tissues by LC-MS-based proteomic approach. We identified 220 significantly upregulated and 224 significantly downregulated proteins. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis revealed that these differentially expressed proteins (DEPs) were involved in translation, ribosome assembly, mitochondrial function, mRNA binding, as well as key metabolic pathways like oxidative phosphorylation (OXPHOS), glycolysis/gluconeogenesis, and amino acid biosynthesis. These findings suggest that dysregulated ribosome-related pathways and disrupted metabolism play a critical role in CP development. Protein-protein interaction analysis using the STRING database revealed a tightly connected network of DEPs. Furthermore, we identified the top 10 hub proteins in CP using the Cytohubba plugin in Cytoscape. These hub proteins, including RPL8, RPS11, ALB, PA2G4, RPL23, RPS6, CCT7, EGFR, HSPD1, and RPS28, are potentially key regulators of CP pathogenesis. In conclusion, our comprehensive proteomic analysis provides insights into the molecular alterations associated with RA-induced CP in Kun Ming mice. These findings suggest potential therapeutic targets and pathways to understand and prevent congenital craniofacial anomalies.
Research in the field of preventive medicine will increasingly focus on the role of genetic susceptibility in disease etiology. Epidemiology plays an important role in identifying which diseases are good candidates for such research activity. Computerized population registries of unstable partner relationships and change in environmental exposure settings may provide new tools for research. We illustrate these tools using facial cleft defects as an example. The design is based upon computerized and stored data from large population samples. Data on change of partner or environment between births are used to learn about the recurrence risks for diseases that were present in their first child. The study focused on a susceptible subgroup of the population who previously had an affected child. Thus, by definition, these couples had a sufficient set of causes to initiate the disease and an increased risk of recurrence if relevant genetic or environmental factors remained unchanged. When considering recurrence risks after changes in possible genetic or nongenetic risk factors, etiologically important clues may emerge. The example confirms that genetic factors play a major role in facial cleft defects.
Described is a technique that has evolved from the challenges of closure of larger cleft palate defects and that we are now using in preference over other techniques to repair a wide variety of clefts. Soft-palate closure and muscular sling reconstruction are accomplished using a modified Furlow technique. An associated cleft of the hard palate and the gaps produced by posterior displacement of the reconstructed soft palate are closed by adding tissue, buccal flaps, rather than by closure under tension or leaving residual raw surfaces. Palate lengthening is achieved both by the Z-plasty effect and by the interposition of buccal flaps between the hard and soft palate. Seventy-six palates have been repaired using this procedure. There were three postoperative fistulas.