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: Cleft lip with or without cleft palate is one of the most common types of congenital malformations. Transcription factors paired box 7 and 9 (, ) and receptor-like tyrosine kinase () have been previously associated with the formation of orofacial clefts but their exact possible involvement and interactions in the tissue of specific cleft types remains uncertain. There is a limited number of morphological studies analyzing these specific factors in cleft affected tissue due to ethical aspects and the limited amount of available tissue material. This study analyses the presence of , , and immunopositive structures within different cleft affected tissue to assess their possible involvement in cleft morphopathogenesis. : Cleft affected tissue was collected from non-syndromic orofacial cleft patients during cleft correcting surgery (36 patients with unilateral cleft lip, 13 patients with bilateral cleft lip, 26 patients with isolated cleft palate). Control group oral cavity tissue was obtained from 7 patients without cleft lip and palate. To evaluate the number of immunopositive structures in the cleft affected tissue and the control group, a semiquantitative counting method was used. Non-parametric statistical methods (Kruskal-Wallis H test, Mann-Whitney U test, and Spearman's rank correlation) were used. : Statistically significant differences for the number of , , and -positive cells were notified between the controls and the patient groups. Multiple statistically significant correlations between the factors were found in each cleft affected tissue group. : , , and have a variable involvement and interaction in postnatal morphopathogenesis of orofacial clefts. is more associated with the formation of unilateral cleft lip, while relates more towards the isolated cleft palate. The stable presence of in all cleft types indicates its possible participation in different facial cleft formations.
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http://dx.doi.org/10.3390/medicina57101075 | DOI Listing |
J Craniomaxillofac Surg
March 2025
Department of Maxillofacial Surgery, Clinic of Pediatric Surgery, Institute of Mother and Child, Ul. Kasprzaka 17a, 01-211, Warsaw, Poland. Electronic address:
Palatal morphology in patients with clefts can be accurately assessed during the presurgical period, providing insights into how cleft type affect palatal development. These early observations are unbiased by treatment, making them broadly applicable. This study aimed to identify differences in palatal morphology among untreated patients with various cleft types before surgery.
View Article and Find Full Text PDFAm J Hum Genet
March 2025
Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France. Electronic address:
The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to neurodevelopmental or neurodegenerative disorders with variable clinical presentations, designated as MEDopathies. Here, we report the identification of 25 individuals from 18 families with bi-allelic MED16 variants who have a multiple congenital anomalies (MCAs)-intellectual disability syndrome.
View Article and Find Full Text PDFIndian J Pathol Microbiol
March 2025
Department of Radiodiagnosis, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.
Glial choristoma (GC) is a rare developmental malformation commonly occur in nasal cavity and infrequently present at other sites like palate, tongue, pharynx, lips, and submandibular region. It usually occurs in the children either as an incidental finding or mass lesion or in association with cleft palate. GC is diagnosed by the demonstration of glial tissue on histopathology.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
March 2025
From the Division of Plastic Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL.
Teratomas are embryonal neoplasms composed of 2 or 3 germ layers. We present the case of a female neonate who had a rare, mature, skull base teratoma that was managed surgically by fetal surgery, neurosurgery, otolaryngology, and plastic surgery. Imaging revealed an anterior skull base teratoma with extension into the nasopharynx, resulting in gross enlargement of the right nostril and sinonasal cavity.
View Article and Find Full Text PDFJ Stomatol Oral Maxillofac Surg
March 2025
BDS, MSc, Ph.D, associate professor, Department of Clinical Oral Health Sciences, College of Dental Medicine, QU Health, Qatar University, Doha, Qatar. Electronic address:
Introduction: This study aimed to assess the available evidence regarding the skeletal, dentoalveolar and soft tissue effects of different maxillary expansion appliances in cleft lip/palate patients.
Methods: We assessed the effects of different maxillary expansion appliances on skeletal structure and dentoalveolar and soft tissue in cleft lip/palate patients. We searched the PubMed, Science Direct, Web of Science, Cochrane, and LILACS databases through September 2024; that investigation was augmented by a manual search.
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