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1.
J Pharm Bioallied Sci ; 15(Suppl 2): S1116-S1118, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37694015

ABSTRACT

Aim: The aim of the present study was to compare the treatment outcome in oral cancer cases treated with neoadjuvant chemotherapy (NACT) and upfront surgery in localized advance disease. Materials and Methods: A randomized, prospective study was conducted in 20 cases. Patients were divided into two groups. Group A was taken up for upfront surgery and group B was taken up for surgery after two to three cycles of NACT based on patients' response, performance, and compliance. Results: Neither group showed statistically significant differences in clinical characteristics. In the present study, satisfactory outcomes were seen in nine patients belonging to NACT group and eight patients of non-NACT group had satisfactory outcomes after surgery, which were found to be statistically significant (P = 0.001). Conclusion: NACT may be considered as a treatment option for oral squamous cell carcinoma patients, particularly those with locally advanced tumors. Further prospective studies are needed to validate these findings in patients.

2.
Indian J Otolaryngol Head Neck Surg ; 75(2): 579-586, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37274984

ABSTRACT

The submental artery island flap has been used for reconstruction of mild to moderate size oral defects after resection despite its controversy of oncological safety.Our study aims to assess the efficiency and oncological safety of submental artery flap in oral reconstruction.Twenty-three oral cancer patients who underwent resection and reconstruction using the submental artery island flap at State Cancer Institute, Guwahati, India, between February 2021 and February 2022 were retrospectively studied for the flap viability, complications, and function and locoregional recurrence.There were 9 men and 14 women with mean age of 58.56 years. The follow up period ranged from 7 months to 18 months with a median of 12 months. There was no loss of flap, i.e., 100% success rate of flap survival. One patient presented with locoregional recurrence at 11 months of follow up. Three male patients had hair growth on the flap inside oral cavity. There was one case of marginal nerve palsy and one case of donor site wound dehiscence which healed conservatively. The functions and donor site cosmesis were good in all the patients.Submental artery island flap is a good option for reconstruction in select cases of oral cancer.

3.
Orphanet J Rare Dis ; 17(1): 176, 2022 04 27.
Article in English | MEDLINE | ID: mdl-35477461

ABSTRACT

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), skin fibrofolliculomas and renal carcinoma (chromophobe). Here, we comprehensively studied the mutational background of 31 clinically diagnosed BHDS patients and their 74 asymptomatic related members from 15 Indian families. RESULTS: Targeted amplicon next-generation sequencing (NGS) and Sanger sequencing of FLCN in patients and asymptomatic members revealed a total of 76 variants. Among these variants, six different types of pathogenic FLCN mutations were detected in 26 patients and some asymptomatic family members. Two of the variants were novel mutations: an 11-nucleotide deletion (c.1150_1160delGTCCAGTCAGC) and a splice acceptor mutation (c.1301-1G > A). Two variants were Clinvar reported pathogenic mutations: a stop-gain (c.634C > T) and a 4-nucleotide duplication (c.1329_1332dupAGCC). Two known variants were: hotspot deletion (c.1285delC) and a splice donor mutation (c.1300 + 1G > A). FLCN mutations could not be detected in patients and asymptomatic members from 5 families. All these mutations greatly affected the protein stability and FLCN-FNIP2 interaction as observed by molecular docking method. Family-based association study inferred pathogenic FLCN mutations are significantly associated with BHDS. CONCLUSION: Six pathogenic FLCN mutations were detected in patients from 10 families out of 15 families in the cohort. Therefore, genetic screening is necessary to validate the clinical diagnosis. The pathogenic mutations at FLCN affects the protein-protein interaction, which plays key roles in various metabolic pathways. Since, pathogenic mutations could not be detected in exonic regions of FLCN in 5 families, whole genome sequencing is necessary to detect all mutations at FLCN and/or any undescribed gene/s that may also be implicated in BHDS.


Subject(s)
Birt-Hogg-Dube Syndrome , Kidney Neoplasms , Birt-Hogg-Dube Syndrome/genetics , Female , Humans , Male , Molecular Docking Simulation , Mutation/genetics , Nucleotides , Proto-Oncogene Proteins/genetics , Tumor Suppressor Proteins/genetics , Tumor Suppressor Proteins/metabolism
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