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Abstract Objective Otitis media with effusion is common in children with cleft palates. This study aimed to investigate the link between palatal closure techniques and audiological outcomes. Methods In this retrospective‐prospective cohort study, we examined the relationship between palate repair techniques and hearing outcomes in children with cleft palates. From 2017 to 2022, 190 ears of 95 cleft patients were studied at the Cleft Lip and Palate Department of Shiraz University of Medical Sciences. Variables assessed included the surgical technique, cleft severity, auditory brainstem response (ABR) threshold, and tympanometry configuration. Results The mean ABR improved from a prepalatoplasty value of 39.51(11.62) decibels (dB) to a postpalatoplasty mean of 26.61(11.60) dB (Cohen's d: 1.12 [95% CI; 0.90–1.34]). Initially, 87.9% of the studied ears exhibited abnormal tympanometry, but this significantly decreased to 47% postsurgery (risk ratio: 4.43 [95% CI; 1.20–16.43]). When compared with Sommerlad intravelar veloplasty, the Nadjmi modified Furlow palatoplasty was associated with a notably lower mean ABR (β: −6.58 [95% CI: −10.43 to −2.73], p‐value = .001) and a reduced frequency of abnormal tympanometry (odds ratio [OR]: −1.10; 95% CI: −1.85 to −0.36, p‐value = .004). Factors like prepalatoplasty ABR, cleft palate severity, gender, and syndromic did not confound these findings. Conclusions Although the Nadjmi modified Furlow palatoplasty showed better results, our findings indicate a significant improvement in ABR and tympanometry outcomes for both techniques. Future randomized controlled trials are suggested to confirm the influence of palatal closure techniques on audiological outcomes. Level of Evidence 3b.

Abstract Background Body dysmorphic disorder (BDD) is a prevalent mental disorder, particularly in those seeking plastic surgery, leading to unnecessary surgeries and postsurgical dissatisfaction. Among the plastic surgeries, rhinoplasty is the most commonly sought, yet the data on prevalence of BDD among the candidates of rhinoplasty is limited. Therefore, this systematic review and meta‐analysis aimed to estimate the prevalence of BDD in rhinoplasty candidates. Methods The online libraries of Web of Science, PubMed, Cochrane Library, ProQuest, Research Square, Scopus, and Google Scholar were searched up to August 2022. Statistical analyses were performed using STATA software (v. 16). The heterogeneity was determined using the I2 statistic, and an overall estimated analysis was conducted. Subgroup analyses were performed on study year, age, gender, World Health Organization regional classification, sociodemographic index, country, sample size, and employed diagnostic tool. A meta‐regression analysis was performed to identify potential sources of heterogeneity. Results Out of 12,999 studies assessed, 18, with a combined sample size of 2132 individuals, met our criteria and were included in the study. The pooled prevalence of BDD was 32.7% (95% CI: 23.6−41.7; I2 = 96.45%). Subgroup analyses revealed the studies that were conducted in the European region (42.8%), with a sample size of ≥100 (40.2%), utilized the BDD modification of the Y‐BOCS (BDD‐YBOCS) diagnostic method (47.3%), and with a quality score of ≥6 (34.2%) demonstrated higher prevalence of BDD. The meta‐regression analysis identified a higher prevalence in the BDD‐YBOCS diagnostic method than in the BDD questionnaire (β: 0.23; 95% CI: 0.04−0.43; p = 0.022). Conclusions The prevalence of BDD is high in those seeking rhinoplasty. Clinicians should be aware of BDD symptoms to prevent unnecessary surgery and dissatisfaction. Public awareness through the media and access to affordable medical services should also be provided.

Gastrointestinal mast cell sarcoma is a rare variant of mastocytosis. It is a unifocal tumor with high destructive capacity and metastatic potential. Diagnosis of mast cell sarcoma can be challenging and might be so delayed that unfavorable prognosis may be expected. In this case report, we will describe our experience with a case of mast cell sarcoma in the small intestine of an elderly woman, which was diagnosed early on throughout the course of her disease and successfully treated. The patient was a 59-year-old woman who presented with abdominal pain, flushing, weight loss, and vomiting. Imaging studies supported the existence of an infiltrative neoplasm in the jejunum. Then, surgical removal of the tumor was performed. The presence of mast cells in the resected tumor was confirmed by immunohistochemistry, histopathology, and Giemsa staining. After almost a year of follow-up, the patient's overall condition was fine, and no signs of recurrence were found. This is the first reported case of successfully treated gastrointestinal mast cell sarcoma. All of the previously reported cases had been diagnosed after recurrence with no response to treatment. Our case shows the significance of early diagnosis and treatment in this condition and its impact on outcome and prognosis. That could be achieved only if the pathologist has a high suspicion for this rare disease and keeps it in the back of one's mind., Competing Interests: The authors have no conflicts of interest to declare., (© 2023 The Author(s). Published by S. Karger AG, Basel.)

Background: Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl-pyruvate dioxygenas (HPPD) genes, respectively. There are still unclarified aspects in their clinical presentations, mutational spectrum, and genotype-phenotype correlation., Main Body: In this study, we evaluated the spectrum of TAT and HHPD gene mutations in patients with tyrosinemia type II and III. Moreover, biochemical and clinical findings are evaluated to establish a genotype-phenotype relationship in the above-mentioned patients. Thirty-three TAT variants have been reported in 42 families, consisting of 21 missense variants, 5 frameshift variants, 4 nonsense variants, 2 variants that primarily cause splicing site, and 1 skipping complete exon (large deletion). The most common variant is p.Arg57Ter, causing a splicing defect, and resulting in premature termination of translation, which was found in 10 patients from 3 families. In HPPD gene, eleven variants in 16 patients have been reported including 7 missense variants, 2 nonsense variants, 1 splice defect, and 1 frameshift variant so far. All variants are unique, except for p.Tyr160Cys, which is a missense variant found in two different patients. Regarding genotype-phenotype correlations, in 90% of tyrosinemia type II patients, positive clinical and biochemical correlations with a detected variant are observed. In HPPD gene, due to the small number of patients, it is not possible to make a definite conclusion., Conclusion: This is the first large review of variants in TAT and HPPD, highlighting the wide spectrum of disease-causing mutations. Such information is beneficial for the establishment of a privileged mutation screening process in a specific region or ethnic group., (© 2022. The Author(s).)