Search

Purpose: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD). Materials and Methods: This study included 18 twin boys with hypospadias: seven and two pairs were monozygotic and dizygotic twins, respectively, and six were discordant and three were concordant twins. Targeted gene panel sequencing for 67 known DSD genes was performed. Sequence variants were classified into five different categories, pathogenic, likely pathogenic, variants of uncertain significance, likely benign, and benign, following the American College of Medical Genetics and Genomics Standards and Guidelines. Results: The mean gestational age and birth weight were 35.3±2.0 weeks and 1.96±0.61 kg, respectively, with seven patients being small for gestational age. Hypospadias was present in 12 patients, with posterior type in 33.3% and anterior type in 66.7%. In three families with twins, both siblings had hypospadias. In addition, cryptorchidism was observed in one subject. Surgical correction of hypospadias was performed at a mean age of 22.1 months. Molecular analysis identified 12 different genetic variants, including two pathogenic mutations in the AMH (p.E389*) and SRD5A2 (p.R246Q) genes, found in subjects with hypospadias, respectively. However, only heterozygous mutations were detected. Conclusions: This study did not identify a definitive genetic component contributing to the development of hypospadias; however, the findings suggest that intrauterine growth retardation may play a significant role. [ABSTRACT FROM AUTHOR]

The study investigated the impact of a Large Language Model, on English learning among 20 undergraduate students enrolled in an English course in 2023. Data were collected through a survey that asked students about their opinions on using ChatGPT. The survey included 20 structured questions and also asked for open-ended responses to explore the advantages and disadvantages of using the large language model for English learning. In addition, the survey examined students' perceptions of the importance, necessity, difficulty, and interest of various English skills, asking them to rank them. Paired samples t-tests were used to analyze significant changes before and after the intervention. The results indicated significant improvements in learning effectiveness, a decrease in anxiety and stress, increased motivation and confidence, and enhanced participation. The students reported that using ChatGPT led to improvements in their vocabulary, grammar, reading, and writing skills. They also noted a slight improvement in their communication skills. Interestingly, the students perceived a decline in their listening skills after the intervention. However, they expressed a greater willingness to continue using ChatGPT for future learning, appreciating its accessibility, flexibility, and the enriching learning experience it provided. Lastly, the study identified challenges, including a lack of support for in-depth grammar, conversational practice, and exam preparation, as well as a potential overreliance on the tool. Therefore, the use of ChatGPT requires appropriate application based on the learning objectives. [ABSTRACT FROM AUTHOR]

Sinus mucoceles are nonmalignant cystic tumors lined by non-neoplastic epithelium, typically involving the frontal and ethmoid sinuses. Although it is common for these mucoceles to cause destruction of surrounding bone tissue due to their growth, cerebrospinal fluid leaks resulting from skull base penetration by an ethmoid sinus mucocele have rarely been reported. A 24-year-old male patient presented with right proptosis and right periorbital pain, who underwent bilateral endoscopic sinus sur gery 12 years ago. Endoscopic sinus surgery was performed to treat the right ethmoid sinus mucocele, and confirmed the presence of a basal skull de fect during surgery. We reconstructed the skull base defect using septal cartialge and free mucosal graft. The symptoms were completely resolved after surgery and no cerebrospinal fluid leakage was noted during follow up period. This case report highlights a rare instance of direct mucocele extension to the skull base. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To evaluate the diagnostic value of pulmonary-vein-to-pulmonary-artery ratio (PV:PA) in dogs with myxomatous mitral valve degeneration (MMVD), classified according to the American College of Veterinary Internal Medicine (ACVIM) consensus guidelines. ANIMALS: 80 client-owned dogs with either MMVD (n = 65) or no cardiovascular disease (control group; n = 15) between August 5, 2020, and July 19, 2023. METHODS: This is a retrospective study. Dogs with MMVD were classified according to ACVIM consensus guidelines. Echocardiograms, thoracic radiographs, and other measurements needed in this study were reviewed in all dogs. Spearman correlation was used to determine the correlation between the PV:PA and the following variables: vertebral heart size, vertebral left atrial size, left-atrium-to-aorta ratio, normalized left ventricular internal diameter, and peak transmitral early diastolic velocity. Receiver operating characteristic (ROC) curve analysis was used to evaluate the value of PV:PA in distinguishing between stages B1 and B2 and stages B2 and C. RESULTS: All conventional indices showed correlations with PV:PA. The area under the ROC curve (AUC) for stages B1 and B2 was 0.83, and the cutoff value for differentiating stage B2 was 1.52. The AUC for stages B2 and C was 0.81, and the cutoff value for differentiating stage C was 2.09. CLINICAL RELEVANCE: PV:PA was significantly different between control and the stage B1 group, stage B1 and B2 group, and stage B2 and C group. PV:PA can be an index that can be used in evaluating MMVD dogs. [ABSTRACT FROM AUTHOR]

This review aims to enrich our understanding of Chiari-like malformation (CLM) by combining human and veterinary insights, and providing a detailed cross-species overview. CLM is a developmental abnormality characterised by caudal displacement of the hindbrain into the foramen magnum due to an entire brain parenchymal shift caused by insufficient skull volume. This malformation leads to a progressive obstruction at the craniocervical junction, which disrupts the normal cerebrospinal fluid flow, leading to secondary syringomyelia. The clinical signs of CLM and syringomyelia include phantom scratching, head tilt, head tremor, ataxia, tetraparesis, pain, muscle atrophy, and scoliosis or torticollis. Magnetic resonance imaging remains the gold standard for diagnosing CLM, since it allows the visualisation of abnormal findings such as the caudal cerebellar herniation, caudal cerebellar compression from occipital dysplasia, and attenuated cerebrospinal fluid cisternae. Although various medical and surgical interventions, including foramen magnum decompression, can provide temporary symptomatic/ clinical sign relief, current literature shows a lack of sustained long-term efficacy. Therefore, additional research is needed to evaluate the long-term effects of existing treatment strategies and to compare different techniques utilised in conjunction with foramen magnum decompression. [ABSTRACT FROM AUTHOR]

Carbapenem-resistant Acinetobacter baumannii complex (CRAB) poses a significant global health challenge owing to its resistance to multiple antibiotics and limited treatment options. Polymyxin-based therapies have been widely used to treat CRAB infections; however, they are associated with high mortality rates and common adverse events such as nephrotoxicity. Recent developments include numerous observational studies and randomized clinical trials investigating antibiotic combinations, repurposing existing antibiotics, and the development of novel agents. Consequently, recommendations for treating CRAB are undergoing significant changes. The importance of colistin is decreasing, and the role of sulbactam, which exhibits direct antibacterial activity against A. baumannii complex, is being reassessed. High-dose ampicillin-sulbactam-based combination therapies, as well as combinations of sulbactam and durlobactam, which prevent the hydrolysis of sulbactam and binds to penicillin-binding protein 2, have shown promising results. This review introduces recent advancements in CRAB infection treatment based on clinical trial data, highlighting the need for optimized treatment protocols and comprehensive clinical trials to combat the evolving threat of CRAB effectively. [ABSTRACT FROM AUTHOR]

Purpose: This study investigated the efficacy of intravesical gemcitabine as an alternative to bacillus Calmette-Guérin (BCG) therapy. Materials and Methods: Data were retrospectively collected across seven institutions from February 1999 to May 2023. Inclusion criteria included patients with intermediate- or high-risk non-muscle invasive bladder cancer (NMIBC) who underwent transurethral resection of bladder tumors (TURBT) and received at least four sessions of intravesical gemcitabine or BCG induction therapy. Patient characteristics, complete remission (CR), occurrence, and progression rates were compared. Results: In total, 149 patients were included in this study (gemcitabine, 63; BCG, 86). No differences were apparent between the two groups in baseline characteristics, except for the follow-up period (gemcitabine, 9.2±5.9 months vs. BCG, 43.9±41.4 months, p<0.001). There were no consistent significant differences observed between the two groups in the 3-month (gemcitabine, 98.4% vs. BCG, 95.3%; p=0.848), 6-month (94.9% vs. 90.0%, respectively; p=0.793) and 1-year CR rates (84.2% vs. 83.3%, respectively; p=0.950). Also, there was no significant statistical difference in progression-free survival between the two groups (p=0.953). The occurrence rates of adverse events were similar between the groups (22.2% vs. 22.1%; p=0.989); however, the rate of Clavien-Dindo grade 2 or higher was significantly higher in the BCG group (1.6% vs. 16.3%, respectively; p<0.001). Conclusions: Intravesical gemcitabine demonstrated efficacy comparable to BCG therapy for the first year in patients with intermediate- and high-risk NMIBC. However, long-term follow-up studies are warranted. [ABSTRACT FROM AUTHOR]

This study examines the impact of corporate diversification on crash risk in East Asian firms. We selected East Asian firms as the research sample due to unique features that might facilitate agency problems there, such as lower investor protection, more concentrated ownership among firms, and less developed institutional contexts in emerging economies. This study proposes two competing effects explaining the mechanisms of how diversification exacerbates or mitigates crash risk among East Asian firms: information complexity and diversification capacity effects. This study employs a pooled ordinary least-square (OLS) regression on a sample of publicly listed firms in six East Asian countries from 2014 to 2019. Consistent with the diversification capacity effect, our results show that diversification mitigates crash risk among East Asian firms. [ABSTRACT FROM AUTHOR]