- Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome. [Journal Article]
- DCDNA Cell Biol 2018 Feb 20
- Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the ...
Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the leading cause of HOS, while some cases could not be explained by TBX5 mutations. In our study, we preliminarily diagnosed a newborn baby, who had Tetralogy of Fallot, thumb agenesis, facial dysplasia, and right ear canal malformation, as HOS. Chromosome microarray analyses showed no pathological deletions or replications of chromosome segments; whole exome sequencing screened out six candidate genes that were involved in cardiac diseases or syndromes among which SALL4 has been reported as HOS related gene. We evaluated the pathogenicity of SALL4 mutant sites by series of software. The results indicated that SALL4-M143V may be a polymorphism site, and SALL4-R418C could cause disease. HOPE and SWISS PDB viewer showed that SALL4-R418C leads to changes in amino acid properties, loss of protein hydrogen bond, and functional impact of SALL4 zinc finger domain. These results further confirmed the pathogenic significance of SALL4-R418C mutant. When genetic analyses coupled with bioinformatic analyses, we identified a SALL4 gene rare mutation which might contribute to a newborn with HOS. Although some doubts need to be further discussed and explored, our study deepened the understanding of phenotype difference among syndromes and role of SALL4 mutations in disease occurrence.
- Effect of Piecemeal vs En Bloc Approaches to the Lateral Temporal Bone on Survival Outcomes. [Journal Article]
- OHOtolaryngol Head Neck Surg 2018 Feb 01; :194599818758994
- Objectives Lateral temporal bone resection (LTBR) has traditionally been performed en bloc in accordance with oncologic principles. Occasionally, this is not possible due to a low tegmen or lateraliz...
Objectives Lateral temporal bone resection (LTBR) has traditionally been performed en bloc in accordance with oncologic principles. Occasionally, this is not possible due to a low tegmen or lateralized vasculature. We sought to determine if outcomes of piecemeal and en bloc LTBR are comparable. Study Design Retrospective review. Setting Two academic medical centers. Subjects and Methods Multi-institutional retrospective cohort study. Current Procedural Terminology codes were used to identify patients with T1 to T3 squamous cell carcinoma of the external auditory canal (EAC) who underwent LTBR from 2005 to 2015. Kaplan-Meier curves were constructed to compare total survival between the 2 treatment approaches. Pairwise comparisons were performed using χ2and Fisher exact tests (significance at P = .05), as appropriate. Results Twenty-five patients were identified. Ten patients underwent en bloc LTBR; 15 underwent piecemeal LTBR. Median follow-up time was 11 months (range, 1-60 months). There was not a significant difference in overall survival between en bloc (38.9 months; 95% confidence interval [CI], 22.7-55.2) compared to piecemeal (37.5 months; 95% CI, 21.1-53.9) procedures ( P = .519). Estimates of disease-free survival also did not reveal statistically significant differences: estimated mean disease-free survival was 48.1 months (95% CI, 33.7-62.6) in en bloc patients and 32.5 months (95% CI, 17.1-47.8) in piecemeal patients ( P = .246). Conclusion These data suggest that piecemeal resection can be considered for cases of squamous cell carcinoma involving the external auditory canal where anatomic constraints preclude a safe en bloc resection. Larger studies or studies with a longer follow-up time may provide improved insight into survival comparisons.
- A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial genera. [Journal Article]
- BMBMC Microbiol 2018 Feb 20; 18(1):13
- CONCLUSIONS: Corynebacterium and Dolosigranulum are characteristic of a healthy nasopharyngeal microbiome. Alloiococcus, Staphylococcus and Turicella are possible novel otopathogens, though their rarity in the nasopharynx and prevalence in the ear canal means that their role as normal aural flora cannot be ruled out. Gemella and Neisseria are unlikely to be novel otopathogens as they do not appear to colonise the middle ear in children with rAOM.
- Is Routine Use of High Resolution Computerized Tomography of Temporal Bone in Patients of Atticoantral Chronic Suppurative Otitis Media without Intracranial Complications Justified? [Journal Article]
- IJIndian J Otolaryngol Head Neck Surg 2018; 70(1):79-86
- Role of high resolution computerized tomography (HRCT) of temporal bone is established in cases of atticoantral chronic suppurative otitis media (CSOM) with intracranial complications. Routine use of...
Role of high resolution computerized tomography (HRCT) of temporal bone is established in cases of atticoantral chronic suppurative otitis media (CSOM) with intracranial complications. Routine use of HRCT in management of patients of atticoantral CSOM without intracranial complications has been an issue of debate. The aim of this study was to evaluate the routine use of HRCT of temporal bone in such cases. This study was a prospective study done at LG hospital, AMC MET Medical College, Ahmedabad to evaluate and compare the temporal bone findings in HRCT and intraoperative findings in 100 patients with atticoantral CSOM. All patients underwent HRCT screening followed by surgical exploration of middle ear cleft. In extent of disease HRCT showed very high sensitivity and specificity for epitympanum (100, 94%) and mesotympanum (98, 98%) areas. It gave valuable information of disease extent in hidden areas like sinus tympani and facial recess of mesotympanum. HRCT satisfactorily delineated malleus and incus erosion but had 75% sensitivity for detecting erosion of stapes suprastructure, though specificity was of 97%. For bony anatomical landmarks HRCT showed very high sensitivity and specificity for detecting erosion of lateral semicircular canal, tegmen tympani and sinus plate. Detection of facial canal erosion on HRCT had moderate sensitivity of 75%. We concluded that routine use of HRCT is justified as a reliable preoperative tool in patients with atticoantral CSOM without intracranial complications and it helps to plan type of surgical intervention. HRCT has limited role to distinguish between granulations and cholesteatoma and also to delineate stapes supra structure and facial nerve canal.
- The anatomic applicability of transcanal endoscopic ear surgery in children. [Journal Article]
- IJInt J Pediatr Otorhinolaryngol 2018; 105:118-122
- CONCLUSIONS: TEES is applicable for most pediatric patients using an endoscope with a diameter of 3 mm or smaller. With an appropriate endoscope and instruments, TEES is a safe and effective alternative to treat pediatric middle ear disease.
- Role of cone-beam computed tomography with a large field of view in Goldenhar syndrome. [Journal Article]
- AJAm J Orthod Dentofacial Orthop 2018; 153(2):269-277
- CONCLUSIONS: Cone-beam computed tomography with a large field of view was able to accurately identify craniofacial and vertebral skeletal anomalies, and to quantify asymmetries between the nonaffected and affected sides for an efficient maxillofacial treatment planning.
- Comparison of enhancement of the vestibular perilymph between gadoterate meglumine and gadobutrol at 3-Tesla in Meniere's disease. [Journal Article]
- DIDiagn Interv Imaging 2018 Feb 01
- CONCLUSIONS: Gadobutrol and gadoterate meglumine provide similar degrees of enhancement of the symptomatic ear in patients with Meniere's disease but gadobutrol provides better anatomical details regarding endolymphatic space and semicircular canals of asymptomatic, contralateral ear.
- Assessment of Response to Treatment in Patients with Otomycosis. [Journal Article]
- IJIran J Otorhinolaryngol 2018; 30(96):41-47
- CONCLUSIONS: Based on the results of this research in Babol, the recurrence of otomycosis was 7.3% and was related to swelling and erythema in ear canal.
- The Impact of the Transcanal Endoscopic Approach and Mastoid Preservation on Recurrence of Primary Acquired Attic Cholesteatoma. [Journal Article]
- ONOtol Neurotol 2018 Jan 16
- CONCLUSIONS: Transcanal endoscopic approaches that preserve the mastoid may play an important role in preventing recurrence and underscores the importance of the mucosa and mastoid air cells on middle ear homeostasis.
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- Popularity and Harms of Aural Foreign Bodies: A Descriptive Study of Patients in Baqiyatallah University Hospital, Tehran, Iran. [Journal Article]
- ITInt Tinnitus J 2017 Dec 01; 21(2):31-35
- CONCLUSIONS: In conclusion we realized that 67.2% of patients attending to Otolaryngology clinic of our hospital were using a kind of aural foreign bodies and itching was the most common chief complaint of these patients.