Two-Stage Urethroplasty with Buccal Mucosa for Penoscrotal Hypospadias Reconstruction in a Male with a 46,XX Karyotype.
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ABSTRACT:
SUBMITTER: D'hulst P
PROVIDER: S-EPMC5522374 | biostudies-other | 2017 Sep
REPOSITORIES: biostudies-other
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Project description:ObjectiveThe purpose of this study was to compare the outcomes of the buccal mucosa and lingual mucosa used in children who received multiple failed hypospadias surgeries.MethodWe conducted a retrospective study of 62 children who received buccal or lingual mucosa graft urethroplasty in our hospital between 2012 and 2015. The ages ranged from 3.5-11 y. All cases included multiple failed hypospadias procedures, and the subjects received previous operations 2-3 times. All patients underwent one-stage operations. Thirty-three cases were treated with lingual mucosa grafts. The patient ages ranged from 3.5 to 11 y (median 7.5 y), and they had previous operations 2-3 times (mean 2.8±0.7). Grafts ranged from lengths of 2-6 cm (mean 5.1±0.46 cm) and widths of 0.5-1.5 cm (mean 1.2± 0.16 cm). Our follow-up was 5 to 12 m (mean 8.3±1.2 m). Twenty-nine cases were treated with buccal mucosa grafts. The patient ages ranged from 4 to 9.2 y (median 7.0 y), and they had previous operations 2-3 times (mean 2.5±0.2). Grafts ranged from lengths of 2-5.3 cm (mean 4.9± 0.28 cm) and widths of 0.5-1.5 cm (mean 1.0±0.11 cm). Our follow-up was 5 to 12 m (mean 7.9±0.5 m). The results were tested with SPSS 18.0. The rates of complications were compared by a chi-square test, and pre-operative conditions were compared by t test.ResultsFor the outcomes of the two groups, there was no significant difference between the groups in terms of age, preoperative surgery time, and the length and width of the grafts (p>0.05). For the lingual mucosa graft group, fistula: 2/33 (6.0%), stricture: 1/33(3.0%), ventral curvature: 2/33(6.0%), complications: 5/33(15.0%), success rate: 28/33(84.8%), Hose score: 14.34±0.95, peak flow: 6.5 ml/s-12.0 ml/s, and mean peak flow: 9.3±0.4 ml/s. For the buccal mucosa graft group, fistula: 2/29(6.8%), stricture: 2/29(6.8%), ventral curvature: 1/29 (3.4%), complication rate: 5/29(17.0%), success rate: 24/29 (83.0%), Hose score: 14.28±1.03, peak flow: 6.5 ml/s-12.0 ml/s, and mean peak flow: 9.2±0.2 ml/s. There were no differences between the two groups for overall success, complication rates, peak flow, and the Hose scores(P>0.05).ConclusionThe lingual mucosal graft and the buccal mucosa graft both achieved good outcomes, and the lingual mucosa graft made up for the shortcomings of the buccal mucosa graft, which provided a reliable way to treat the multiple failed hypospadias surgeries in pre-pubertal boys.
| S-EPMC5560762 | biostudies-literature
Project description:Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.
| S-EPMC5547087 | biostudies-other
Project description:Buccal mucosal graft represents the gold standard graft material for urethroplasty because of its thick epithelium and a thin lamina propria for maximal graft uptake. There is an ongoing debate whether to close the buccal graft donor site. We show a unique look at buccal donor site healing through serial pictures over a 100-day period. In this patient, the anterior half of the buccal donor site was closed at the time of harvest, allowing real-time observation of wound healing from both the closed and open aspects of the wound.
| S-EPMC4917202 | biostudies-literature
Project description: Not available
| S-EPMC7109481 | biostudies-literature
Project description:BackgroundGene expression changes resulting from conditions such as disease, environmental stimuli, and drug use, can be monitored in the blood. However, a less invasive method of sample collection is of interest because of the discomfort and specialized personnel necessary for blood sampling especially if multiple samples are being collected. Buccal mucosa cells are easily collected and may be an alternative sample material for biomarker testing. A limited number of studies, primarily in the smoker/oral cancer literature, address this tissue's efficacy as an RNA source for expression analysis. The current study was undertaken to determine if total RNA isolated from buccal mucosa could be used as an alternative tissue source to assay relative gene expression.MethodsTotal RNA was isolated from swabs, reverse transcribed and amplified. The amplified cDNA was used in RT-qPCR and microarray analyses to evaluate gene expression in buccal cells. Initially, RT-qPCR was used to assess relative transcript levels of four genes from whole blood and buccal cells collected from the same seven individuals, concurrently. Second, buccal cell RNA was used for microarray-based differential gene expression studies by comparing gene expression between a group of female smokers and nonsmokers.ResultsAn amplification protocol allowed use of less buccal cell total RNA (50 ng) than had been reported previously with human microarrays. Total RNA isolated from buccal cells was degraded but was of sufficient quality to be used with RT-qPCR to detect expression of specific genes. We report here the finding of a small number of statistically significant differentially expressed genes between smokers and nonsmokers, using buccal cells as starting material. Gene Set Enrichment Analysis confirmed that these genes had a similar expression pattern to results from another study.ConclusionsOur results suggest that despite a high degree of degradation, RNA from buccal cells from cheek mucosa could be used to detect differential gene expression between smokers and nonsmokers. However the RNA degradation, increase in sample variability and microarray failure rate show that buccal samples should be used with caution as source material in expression studies.
| S-EPMC3161387 | biostudies-literature
Project description:BackgroundFemale urethral stricture (FUS) represents a sporadic condition. There is a lack of data and standardized guidelines on diagnostics and therapeutics. Several surgical techniques have been described for FUS urethroplasty, among which the flap-based or graft-based ones are most reported. Buccal mucosa graft (BMG) represents the gold standard for male urethroplasty, and this can theoretically be applied also to FUS treatment.ObjectiveTo describe and present preliminary results of a novel minimally invasive technique for buccal mucosa dorsal graft (mini-dorsal BMG) urethroplasty for the treatment of FUS.Design setting and participantsThis is a retrospective study on buccal mucosa dorsal graft urethroplasty for the treatment of FUS.Surgical procedureEvery patient was placed in lithotomic position. Two stiches were placed at 10 and 2 o'clock positions to facilitate the dorsal median urethrotomy. The margins of the incised dorsal urethra at the 12 o'clock position are then dissected from the periurethral tissue. This dissection results in an elliptical raw area between the edges of the urethra over the periurethral tissue. The harvested BMG was fixed with several quilting sutures, using 5-0 and 4-0 absorbable sutures, to cover the raw area. The margins of the graft were sutured to the edges of the incised urethra.MeasurementsA chart review was performed.Results and limitationsThirteen patients underwent the mini-dorsal-BMG technique. The median preoperative uroflow was 5.6 (3-13) ml/s, and the median postoperative value was 23.4 (14-58) ml/s.ConclusionsThe mini-dorsal-BMG technique for the treatment of FUS gives good results with low complication rates. Other series and long-term follow-up are necessary to confirm the reproducibility of this technique.Patient summaryWe present the technical aspects and the promising preliminary results of a novel surgical technique for the treatment of female urethral stricture by using the buccal mucosa to correct this invalidating disease.
| S-EPMC8317839 | biostudies-literature
Project description:Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in the majority of patients has an idiopathic cause. Here, we describe a patient with neurofibromatosis type 1, hypospadias, and unilateral cryptorchidism. The heterozygous variants c.6789_6792delTTAC, p.(Tyr2264Thrfs*5) and c.140A>G, p.(Tyr47Cys) were found in the NF1 and NR5A1 genes, respectively. This case contributes to the phenotypical characterization of patients with NF1 but also with hypospadias caused by a mutation in the NR5A1 gene, which usually leads to severe sex disorders.
| S-EPMC9617560 | biostudies-literature
Project description:Neurodegenerative diseases show an increase in prevalence and incidence, with the most prominent example being Alzheimer's disease. DNA damage has been suggested to play a role in the pathogenesis, but the exact mechanisms remain elusive. We enrolled 425 participants with and without neurodegenerative diseases and analyzed DNA damage in the form of micronuclei in buccal mucosa samples. In addition, other parameters such as binucleated cells, karyolytic cells, and karyorrhectic cells were quantified. No relevant differences in DNA damage and cytotoxicity markers were observed in patients compared to healthy participants. Furthermore, other parameters such as lifestyle factors and diseases were also investigated. Overall, this study could not identify a direct link between changes in buccal cells and neurogenerative diseases, but highlights the influence of lifestyle factors and diseases on the human buccal cytome.
| S-EPMC7747561 | biostudies-literature
Project description:The vast majority of voice disorders is associated with changes of the unique, but delicate, human vocal fold mucosa. The ability to develop new effective treatment methods is significantly limited by the physical inaccessibility and the extremely rare occasions under which healthy tissue biopsies can be obtained. Therefore, the interest in laryngological research has shifted to human oral (buccal) mucosa, a similar and more easily available tissue. The harvesting process is less invasive and accompanied with faster healing and less scarring, compared to vocal fold mucosa. Here we report a descriptive proteomic comparison of paired human buccal and vocal fold mucosa by high-resolution mass spectrometry (CID-MS/MS). Our study identified a total of 1575 proteins detected within both tissues that are highly consistent in several crucial biological processes, cellular components, and molecular functions. Hence, our proteomic analysis will provide a fundamental resource for the laryngological research community.
| S-EPMC9286793 | biostudies-literature
Project description: Not available
| S-EPMC9263402 | biostudies-literature