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1.
Int. arch. otorhinolaryngol. (Impr.) ; 27(4): 625-629, 2023. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1528711

ABSTRACT

Abstract Introduction Thyroid nodules are common globally in almost one fifth of the adult population. The gold standard treatment for thyroid nodule is thyroid lobectomy or total thyroidectomy depending upon the diagnosis. Thyroidectomy has a few known complications but, as per the ATA consensus statement, it is a safe surgery to be done as a day care procedure. Objective To access the feasibility and safety of thyroid lobectomy as a day care surgery and its effect on decreasing overall financial burdens. Methods This retrospective chart review was done from 2006 to 2022. A total of 736 patients underwent thyroid lobectomy among which only 56 were done as day care surgery. Data analysis was done using the IBM SPSS Statistics for Windows, Version 23.0 (IBM Corp., Armonk, NY, USA). Results A total of 40% of the population was male. The mean age of the study population was 42 years. Bethesda II was the most encountered diagnosis, with a rate of 69%. The majority of patients were discharged after 6 hours of postoperative observation. The only complication encountered was seroma, which was seen in two patients. Conclusion Thyroid lobectomy appears to be a safe procedure with a drastic difference in overall cost as a day care procedure. We recommend switching the practice of inpatient thyroid lobectomy to a day care procedure in carefully selected candidates. The major hurdle in day care lobectomy can be approval from insurance.

2.
Asian Journal of Andrology ; (6): 627-632, 2021.
Article in English | WPRIM | ID: wpr-922370

ABSTRACT

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups. However, none of them have been identified in infertile Pakistani males with MMAF. In the current study, two Pakistani families with MMAF patients were recruited. Whole-exome sequencing (WES) of patients and their parents was performed. WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families (Family 1: ENST00000357060.3, p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state; Family 2: ENST00000357060.3, p.Thr526Serfs*43 in a homozygous state). Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype. Semiquantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was carried out to detect the effect of the mutation on mRNA of the affected gene. Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients. To the best of our knowledge, this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype. This study will help researchers and clinicians to understand the genetic etiology of MMAF better.


Subject(s)
Adolescent , Adult , Humans , Male , Middle Aged , Infertility, Male/epidemiology , Loss of Function Mutation/genetics , Microtubule Proteins/genetics , Pakistan/epidemiology , Sperm Tail/physiology
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