A gene cadre orchestrates the normal development of sensory and non-sensory cells in the inner ear, segregating the cochlea with a distinct tonotopic sound frequency map, similar brain projection, and five vestibular end-organs. However, the role of genes driving the ear development is largely unknown. Here, we show double deletion of the Iroquois homeobox 3 and 5 transcription factors (Irx3/5 DKO) leads to the fusion of the saccule and the cochlear base.
View Article and Find Full Text PDFIntroduction: Extraction wounds in oral cavity are usually self-healing. But, this wound healing is hindered because of factors such as saliva, blood, plaque, food debris which causes post-operative infection and pain due to microbial colonization. Placement of periodontal dressings such as zinc oxide eugenol or methyl methacrylate polymer would provide protection up to some extent despite leaving the site without any dressing, but it has disadvantage of difficulty in removing.
View Article and Find Full Text PDFThe mammalian inner ear houses the vestibular and cochlear sensory organs dedicated to sensing balance and sound, respectively. These distinct sensory organs arise from a common prosensory region, but the mechanisms underlying their divergence remain elusive. Here, we showed that two evolutionarily conserved homeobox genes, and , are required for the patterning and segregation of the saccular and cochlear sensory domains, as well as for the formation of auditory sensory cells.
View Article and Find Full Text PDFJ Maxillofac Oral Surg
October 2024
Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function. Biallelic pathogenic variants in cause severe combined immunodeficiency (SCID). More recently, heterozygous variants in identified by restricted gene panels, were also implicated with causing a less severe and variable immunodeficiency.
View Article and Find Full Text PDFA common cause of deafness in humans is dysregulation of the endocochlear potential generated by the stria vascularis (SV). Thus, proper formation of the SV is critical for hearing. Using single-cell transcriptomics and a series of Shh signaling mutants, we discovered that the Shh receptor Patched1 (Ptch1) is essential for marginal cell (MC) differentiation and SV formation.
View Article and Find Full Text PDFNatl J Maxillofac Surg
November 2023
Surgical reconstruction of the missing external ear is difficult, and the results are often far from satisfactory. An implant-retained auricular prosthesis is a suitable alternative. Microtia, malformation, deformity, and partial or complete loss of the external ear may be due to various congenital or acquired factors.
View Article and Find Full Text PDFCondylar hyperplasia is a rare pathology characterised by excessive bone growth that presents virtually unilaterally, resulting in facial asymmetry. The aetiology of this disorder is not well understood. This pathology has been reported to be a rare entity with very few cases being reported in the literature, mostly seen between 11 and 30 years of age, with males and females being equally affected and having no predominance to the left or right side.
View Article and Find Full Text PDFIntroduction: Maxillofacial trauma accounts for a high percentage of patients reporting to the emergency medicine department and being admitted in the hospital. The purpose of this study was to form a direct association between maxillofacial fractures and traumatic brain injury (TBI).
Methods: Ninety patients with maxillofacial fractures that reported to/were referred to the Department of Oral and Maxillofacial Surgery were observed for features indicative of TBI based on clinical presentation and radiological interpretations.
Infiltrating lipomatosis is a rare benign condition causing diffuse fatty infiltration into the surrounding soft tissue and in rare cases causes hyperplasia of the adjacent bone. We report a case with clinical and radiological evidence of a 34-year-old female patient who reported a swelling in the left middle third of the face with exophytic temporomandibular joint (TMJ) ankylosis of the left side resulting in restricted mouth opening and facial asymmetry since 21 years. The number of cases reported in the literature is rare.
View Article and Find Full Text PDFThe in vivo mechanisms underlying dominant syndromes caused by mutations in SRY-Box Transcription Factor 9 () and () transcription factors, when they either are expressed alone or are coexpressed, are ill-defined. We created a mouse model for the campomelic dysplasia mutation, which truncates the transactivation domain but leaves DNA binding and dimerization intact. Here, we find that causes deafness via distinct mechanisms in the endolymphatic sac (ES)/duct and cochlea.
View Article and Find Full Text PDFBackground: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of genetic disorders affecting immune function. In this report, a 17-month-old Malay patient suspected of having Hyper IgM syndrome, a type of IEIs, was described. However, the diagnosis of Hyper IgM syndrome was excluded by the normal functional studies and the mild features of ectodermal dysplasia observed from a further clinical phenotype inspection.
View Article and Find Full Text PDFBackground And Objective: Recent advances have led to cure or long-term disease control for patients with hematological malignancy (HM). Unfortunately, some of them still have poor prognoses and are often associated with significant symptom burden and poor quality of life for patients and families. These patients usually require supportive care including red blood cell and platelet transfusion, due to disease itself and the oncological treatment, apart from their symptom management.
View Article and Find Full Text PDFDevelopment of mammalian auditory epithelium, the organ of Corti, requires precise control of both cell cycle withdrawal and differentiation. Sensory progenitors (prosensory cells) in the cochlear apex exit the cell cycle first but differentiate last. Sonic hedgehog (Shh) signaling is required for the spatiotemporal regulation of prosensory cell differentiation, but the underlying mechanisms remain unclear.
View Article and Find Full Text PDFBackground: Count data from the national survey captures healthcare utilisation within a specific reference period, resulting in excess zeros and skewed positive tails. Often, it is modelled using count data models. This study aims to identify the best-fitting model for outpatient healthcare utilisation using data from the Malaysian National Health and Morbidity Survey 2019 (NHMS 2019) and utilisation factors among adults in Malaysia.
View Article and Find Full Text PDFNatl J Maxillofac Surg
July 2022
Introduction: The midface with multiple bones and cavities is vulnerable to fractures more commonly. Midface is one of the most frequently injured areas of the body, accounting for 23%-97% of all facial fractures. The classic LeFort type of fractures are uncommon nowadays and a more common picture is more severe forms primarily due to the high-speed vehicles that are a major cause of these fractures.
View Article and Find Full Text PDFMuscle satellite cells (SCs) are responsible for muscle homeostasis and regeneration and lncRNAs play important roles in regulating SC activities. Here, in this study, we identify PAM (Pax7 Associated Muscle lncRNA) that is induced in activated/proliferating SCs upon injury to promote SC proliferation as myoblast cells. PAM is generated from a myoblast-specific super-enhancer (SE); as a seRNA it binds with a number of target genomic loci predominantly in trans.
View Article and Find Full Text PDFBackground And Objectives: Trauma to the maxillofacial region is usually associated with varying degrees of disruption of the soft and hard tissues in the region and injuries to the neighbouring structures such as eyes, brain, nasal apparatus and paranasal sinuses. Injuries to the middle third of the face commonly destroys the integrity of the orbital skeleton, and are frequently complicated by injury to the eye, ranging between 2.7 and 67% as reported in the literature.
View Article and Find Full Text PDFMitochondrial mutations are increasingly recognised as informative endogenous genetic markers that can be used to reconstruct cellular clonal structure using single-cell RNA or DNA sequencing data. However, identifying informative mtDNA variants in noisy and sparse single-cell sequencing data is still challenging with few computation methods available. Here we present an open source computational tool MQuad that accurately calls clonally informative mtDNA variants in a population of single cells, and an analysis suite for complete clonality inference, based on single cell RNA, DNA or ATAC sequencing data.
View Article and Find Full Text PDFAim: The objective of this study was to correlate the preoperative radiological findings and intraoperative surgical findings during removal of impacted mandibular 3rd molar with respect to the inferior alveolar canal.
Materials And Method: The prospective study design included 100 patients between the age group of 20 years and 50 years who visited the Department of Oral and Maxillofacial Surgery at Vydehi Institute of Dental Sciences and Research Centre, Whitefield, Bengaluru. A preoperative panoramic radiograph was taken and the parameters were assessed and a normal surgical protocol was followed to extract the impacted mandibular 3rd molar with intra-operative assessment as well.
J Oral Maxillofac Pathol
August 2021
Introduction: Patients with ischemic heart disease are placed on antiplatelet therapy (APT). This study allows a definite protocol to be set which will allow us the make the right judgment when it comes to extractions in patients on APT.
Materials And Methods: For this study, 100 patients were taken up for dental extraction after obtaining a thorough case history.
Background And Aims: The enteric nervous system, which regulates many gastrointestinal functions, is derived from neural crest cells (NCCs). Defective NCC migration during embryonic development may lead to enteric neuropathies such as Hirschsprung's disease (hindgut aganglionosis). Sox10 is known to be essential for cell migration but downstream molecular events regulating early NCC migration have not been fully elucidated.
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