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OBJECTIVES: Presurgical infant orthopedic appliances, such as presurgical nasoalveolar molding (PNAM) devices, are used to attain optimal conditions for primary repair of the lip and nose (PRoLN) in patients with cleft lip. We aimed to analyze the three-dimensional (3D) outcomes of PNAM using an LED surface scanner. METHODS: Fifteen patients with unilateral cleft lip and palate (CLP) were included in this study and treated using a PNAM device. The patients' faces were digitized pre- and post-PNAM using an Artec Space Spider scanner, and the scanned data were analyzed using 3D software (Geomagic Control X and ANSYS SpaceClaim). The columellar angle (CA), nostril curvature (NC) on the affected (NC_A) and unaffected (NC_U) sides, gap of cleft lip (GCL), alar width (AW), and nasal tip angle (NTA) were measured. RESULTS: CA increased significantly by 10.00° and NC_A by 0.030 mm-1 (p<0.001). GCL decreased by 4.98 mm2 on average and NC_U by 0.015 mm-1 (p=0.029 and 0.046, respectively). AW also decreased by approximately 1.22 mm pre- and post-treatment (p=0.002), and NTA, which shows a lateral profile, decreased by approximately 3.32° (p=0.002). CONCLUSIONS: This study confirmed the orthopedic benefits of PNAMd treatment through 3D analysis using an LED surface scanner. Further studies involving a larger number of participants are warranted to study the effects of PNAM and analyze longitudinal changes in patients with CLP. CLINICAL SIGNIFICANCE: This study shows that PNAM effectively corrects columellar deviation and nostril shape in patients with unilateral cleft lip, with 3D scanners enhancing primary lip and nose repair outcomes.
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In the original publication [...].
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BACKGROUND: Artificial intelligence (AI) and machine learning (ML) methods are increasingly being applied in pediatric urology across a growing number of settings, with more extensive databases and wider interest for use in clinical practice. More than 30 ML models have been published in the pediatric urology literature, but many lack items required by contemporary reporting frameworks to be high quality. For example, most studies lack multi-institution validation, validation over time, and validation within the clinical environment, resulting in a large discrepancy between the number of models developed versus the number of models deployed in a clinical setting, a phenomenon known as the AI chasm. Furthermore, pediatric urology is a unique subspecialty of urology with low frequency conditions and complex phenotypes where clinical management can rely on a lower quality of evidence. OBJECTIVE: To establish the AI in PEDiatric UROlogy (AI-PEDURO) collaborative, which will carry out a living scoping review and create an online repository (www.aipeduro.com) for models in the field and facilitate an evidence synthesis of AI models in pediatric urology. METHODS AND ANALYSIS: The scoping review will follow PRISMA-ScR guidelines. We will include ML models identified through standardized search methods of four databases, hand-search papers, and user-submitted models. Retrieved records will be included if they involve ML algorithms for prediction, classification, or risk stratification for pediatric urology conditions. The results will be tabulated and assessed for trends within the literature. Based on data availability, models will be divided into clinical disease sections (e.g. hydronephrosis, hypospadias, vesicoureteral reflux). A risk assessment will be performed using the APPRAISE-AI tool. The retrieved model cards (brief summary model characteristics in table form) will be uploaded to the online repository for open access to clinicians, patients, and data scientists, and will be linked to the Digital Object Identifier (DOI) for each article. DISCUSSION AND CONCLUSION: We hope this living scoping review and online repository will offer a valuable reference for pediatric urologists to assess disease-specific ML models' scope, validity, and credibility to encourage opportunities for collaboration, external validation, clinical testing, and responsible deployment. In addition, the repository may aid in identifying areas in need of further research.
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This study aimed to identify the perinatal risk factors of severe acute kidney injury (AKI) occurring after the first week of birth in very low birth weight (VLBW) infants who survived up to the first week. We conducted a single-center, retrospective cohort study on VLBW infants (birth weight, <1,500â g) delivered at <32 weeks of gestational age (GA) from January 2012 to December 2022. We classified AKI based on changes in serum creatinine and urine output based on the modified The Kidney Disease: improving Global Outcomes (KDIGO) neonatal AKI criteria. Stage 2-3 AKI were considered as severe AKI (sAKI). We performed logistic regression analysis to evaluate risk factors for late neonatal severe AKI identified in the second week after birth. We included 274 VLBW infants. The prevalence of late neonatal severe AKI (sAKI) was 27.4%, with the diagnosis rate of sAKI being higher early after birth. Logistic regression analysis revealed that the factors associated with late neonatal sAKI were small for gestational age (SGA) (OR, 3.02; P = 0.032), endotracheal intubation in the delivery room (OR, 2.79; P = 0.022), necrotizing enterocolitis (NEC) (OR, 12.41; P = 0.029), and decreased minimum weekly fluid balance <0 (OR, 2.97; P = 0.012). SGA, intubation in the delivery room, and NEC were associated factors for late neonatal sAKI in VLBW infants. The association of no weekly weight gain with increased late neonatal sAKI risk indicates its use in guiding fluid therapy and aids in biomarker research.
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INTRODUCTION: Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are structural disorders originating prenatally and present at birth. Affecting 4.2 to 1000 per 10,000 births globally, CAKUT includes conditions like posterior urethral valves, cloacal anomalies, and reflux nephropathy. These anomalies can lead to chronic kidney disease (CKD) or end-stage kidney disease (ESKD) in children, necessitating renal replacement therapy or transplantation. OBJECTIVES: This article aims to provide an updated perspective on pediatric kidney transplantation for children with CAKUT, emphasizing pre-transplant evaluation and management to optimize long-term outcomes. METHODS: A comprehensive urologic evaluation is essential for children with ESKD being considered for kidney transplantation. Key pre-transplant investigations include kidney/bladder ultrasound (US), voiding cystourethrogram (VCUG), uroflowmetry, and urodynamics (UDS)/video-urodynamics (VUDS). Non-operative interventions such as pharmacotherapy and clean intermittent catheterization (CIC) are also considered. Surgical interventions, like augmentation cystoplasty or continent catheterizable channels, are evaluated based on individual patient needs. RESULTS: Kidney/bladder US and VCUG provide essential anatomical information. UDS offers comprehensive functional data, identifying hostile bladders needing pre-transplant optimization. Non-surgical measures like anticholinergics and CIC improve bladder function, while surgical options enhance compliance and capacity. Concurrent interventions during transplantation are feasible but require careful consideration of risks and benefits. DISCUSSION: Children with CAKUT undergoing kidney transplantation exhibit comparable or better graft survival rates than those without CAKUT. However, those with lower urinary tract obstructions (LUTO) may have poorer long-term outcomes. UDS is crucial for evaluating bladder function pre-transplant, guiding the need for interventions. Long-term monitoring for urinary tract infections (UTIs) and bladder dysfunction is essential. CONCLUSION: Optimal outcomes in pediatric kidney transplantation for CAKUT patients require thorough pre-transplant evaluation and management, particularly for those with LUTO. Multidisciplinary approaches ensure careful monitoring and timely interventions, improving graft survival and quality of life for these patients.
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Transplante de Rim , Humanos , Transplante de Rim/métodos , Criança , Doenças Urológicas/cirurgia , Anormalidades Urogenitais/cirurgia , Falência Renal Crônica/cirurgiaRESUMO
INTRODUCTION: Initiated in 2009, the U.S. News & World Report (USNWR) pediatric urology rankings aim to guide patients and families towards high-quality urologic care. Despite this, the pediatric urology community remains divided, with significant debate over the rankings' accuracy, utility, and potential for misleading information. While some professionals argue for a collective opt-out from these rankings, citing these concerns, others highlight their positive impact on patient care, hospital benchmarking, and financial support. OBJECTIVE: Recognizing the lack of formal evaluation on how these rankings are viewed beyond the pediatric urology community, this research endeavors to fill the gap through sentiment analysis of public news articles and academic publications. STUDY DESIGN: We captured news articles from Google News and academic papers from Ovid Medline and Embase, focusing specifically on content related to the USNWR pediatric urology rankings from 2009 to 2023. Sentiment analysis was conducted using the Valence Aware Dictionary and Sentiment Reasoner (VADER) package on both news and academic texts, aiming to capture the overall sentiment through a compound score derived from the presence of sentiment-laden words. Sensitivity analysis was performed using TextBlob Pattern Analyzer tool. RESULTS: The analysis revealed a significant divergence in sentiment between news articles and academic literature. News articles exhibited a predominantly positive sentiment, with an average compound score of 0.681, suggesting a general approval or celebration of the rankings in the public sphere. Conversely, academic literature showed a more moderate sentiment, with an average score of 0.534, indicating a nuanced perspective that includes both positive views and critical reflections on the rankings. Sensitivity analysis confirmed this observation (Figure). DISCUSSION: This difference may reflect the distinct nature of news media and academic discourse. While news outlets may prioritize celebratory narratives that align with public interest and institutional pride, academic discussions tend to offer a balanced view that critically assesses both the merits and limitations of the rankings. This discrepancy underscores the complexity of interpreting and acting upon the rankings within the pediatric urology community. CONCLUSION: While the USNWR pediatric urology rankings are generally received positively by the public, as reflected in news media, the academic community presents a more reserved sentiment. These findings suggest the need for ongoing dialogue and research to understand the implications of these rankings fully. It also calls for a strategic approach to address the concerns and perceptions of healthcare professionals, aiming to leverage the rankings in a way that truly benefits patient care and informed decision-making.
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Hospitais Pediátricos , Urologia , Estados Unidos , Humanos , Criança , BenchmarkingRESUMO
PURPOSE: This systematic review and meta-analysis aimed to compare the effectiveness and safety of submucosal injection of onabotulinum toxin A (OnabotA) with intradetrusor injection for overactive bladder syndrome (OAB). METHODS: This systematic review is registered with PROSPERO (CRD42021237964). A licensed librarian surveyed Medline, EMBASE, Scopus, and Google Scholar databases to conduct a comprehensive search. Studies comparing suburothelial and intradetrusor techniques of OnabotA injection for OAB were included, along with clinical and urodynamic variables and complications. The studies were assessed for quality on the basis of Cochrane Collaboration guidelines and evaluated using statistical analysis via a random-effect model and I2 statistic. Data extraction and analysis were conducted using Covidence systematic review platform and Review Manager software. RESULTS: Six studies with 299 patients were included in the systematic review, with four reporting that suburothelial injection of OnabotA was as effective as intradetrusor injection and two reporting intradetrusor injection to be more effective. The meta-analysis found no significant difference between the suburothelial and intradetrusor groups for mean daily catheter or voiding frequency (mean difference: 2.12 [95% confidence interval (CI): -1.61, 5.84]) and the mean number of urgency/urge incontinence episodes (mean difference: 0.08 [95% CI: -1.42, 1.57]). However, a significant heterogeneity was found among the studies. Only the mean volume at first detrusor contraction showed a significant difference, being higher for suburothelial injection (mean difference: 33.39 [95% CI: 0.16, 66.63]). No significant difference was noted for mean compliance, mean bladder capacity, and mean maximum detrusor pressure. Urinary tract infections (UTIs) (p = 0.24) and acute urinary retention (p = 0.92) showed no significant difference between the two groups. The risk of bias varied among the studies. CONCLUSIONS: Suburothelial injection of OnabotA is as effective as intradetrusor injection in improving OAB symptoms, and it has similar complication rates. A higher mean volume of the first detrusor contraction was found in a urodynamic study with suburothelial injection.
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Toxinas Botulínicas Tipo A , Bexiga Urinária Hiperativa , Toxinas Botulínicas Tipo A/administração & dosagem , Humanos , Bexiga Urinária Hiperativa/tratamento farmacológico , Adulto , Bexiga Urinaria Neurogênica/tratamento farmacológico , InjeçõesAssuntos
Obstrução Ureteral , Refluxo Vesicoureteral , Humanos , Obstrução Ureteral/cirurgia , Obstrução Ureteral/etiologia , Refluxo Vesicoureteral/cirurgia , Refluxo Vesicoureteral/etiologia , Derivação Urinária/métodos , Seguimentos , Resultado do Tratamento , Pré-Escolar , Ureter/cirurgia , Ureter/anormalidades , Lactente , Fatores de Tempo , Masculino , Feminino , CriançaRESUMO
INTRODUCTION: Advances in health care have improved outcomes for pediatric patients with congenital neurourological conditions, highlighting the need for an effective transition from pediatric to adult care. This study investigates Canada's transitional urologic care within its single-payer health care system, focusing on the active members of Pediatric Urologists of Canada and their practices, perceptions, and attitudes toward transitional urologic care. METHODS: A survey was distributed to 35 Pediatric Urologists of Canada members from July 2023 to January 2024, which collected data on transitional care practices and available transitional urology clinics. It also focused on a service overview, covering aspects such as the responder's geographic and institutional affiliations, clinical practice characteristics involving transitional care, perceived challenges, and strategies for care enhancement. RESULTS: Nationwide engagement emphasized a commitment to improving transitional care, with a significant proportion of respondents (64%) having over 10 years of practice, reflecting substantial experience in addressing transitional care challenges. The survey identified 4 dedicated transitional care clinics, 3 of which are active, pointing to concerted efforts toward specialized service provision. The major challenges identified include the lack of adult transitional care initiatives and governmental support. Recommendations for improvement should focus on standardizing transition protocols and boosting patient education. The survey also underscored the necessity of protocolized care for spina bifida-neurogenic bladder and complex urogenital conditions. CONCLUSIONS: This study highlights the active efforts and existing challenges within Canada's transitional urologic care system, particularly emphasizing operational transitional care clinics as a crucial step forward in catering to transitioning patients' needs.
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Atitude do Pessoal de Saúde , Sistema de Fonte Pagadora Única , Transição para Assistência do Adulto , Urologia , Humanos , Canadá , Criança , Adulto , Masculino , Pediatria , Feminino , Inquéritos e QuestionáriosRESUMO
Severe intraventricular hemorrhage (IVH) in premature infants can lead to serious neurological complications. This retrospective cohort study used the Korean Neonatal Network (KNN) dataset to develop prediction models for severe IVH or early death in very-low-birth-weight infants (VLBWIs) using machine-learning algorithms. The study included VLBWIs registered in the KNN database. The outcome was the diagnosis of IVH Grades 3-4 or death within one week of birth. Predictors were categorized into three groups based on their observed stage during the perinatal period. The dataset was divided into derivation and validation sets at an 8:2 ratio. Models were built using Logistic Regression with Ridge Regulation (LR), Random Forest, and eXtreme Gradient Boosting (XGB). Stage 1 models, based on predictors observed before birth, exhibited similar performance. Stage 2 models, based on predictors observed up to one hour after birth, showed improved performance in all models compared to Stage 1 models. Stage 3 models, based on predictors observed up to one week after birth, showed the best performance, particularly in the XGB model. Its integration into treatment and management protocols can potentially reduce the incidence of permanent brain injury caused by IVH during the early stages of birth.
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Recém-Nascido de muito Baixo Peso , Aprendizado de Máquina , Humanos , Recém-Nascido , República da Coreia/epidemiologia , Feminino , Masculino , Estudos Retrospectivos , Bases de Dados Factuais , Hemorragia Cerebral/mortalidade , Hemorragia Cerebral/diagnóstico , Algoritmos , Hemorragia Cerebral Intraventricular/epidemiologia , Hemorragia Cerebral Intraventricular/mortalidade , Recém-Nascido PrematuroRESUMO
PURPOSE: We describe long-term outcomes, including UTIs and need for reimplantation, after ureterovesicostomy (UV) as a lasting surgical procedure for children with primary obstructive megaureter (POM). MATERIALS AND METHODS: Children referred to our institution between 2016 and 2023 who underwent refluxing UV were analyzed. POM was defined as hydroureteronephrosis with distal ureteral dilatation > 7 mm and a negative workup for other etiologies of hydronephrosis. We assessed for surgical outcomes, complications, rate of UTI, and improvement in upper tract dilatation. Statistical analyses assessed for change in hydronephrosis metrics over follow-up. RESULTS: Among 183 patients diagnosed with POM, 47 (24%) underwent UV. Median age of presentation, surgery, and follow-up was 2, 9, and 43 months, respectively. A total of 7 patients developed 30-day complications: Clavien-Dindo grade 1 in 2 (transient urinary retention) and grade 2 in 5 (UTIs). During monitoring 14 (30%) developed UTIs and 7 (15%) required ureteral reimplant or UV takedown. After surgery there was a significant decrease in the proportion of patients with high-grade hydronephrosis, anteroposterior renal pelvis diameter, and maximum ureteral dilatation. CONCLUSIONS: Refluxing UV is a safe alternative to cutaneous diversion in POM. Most patients had improvement in upper tract dilatation with an acceptable short-term complication rate and need for reoperation (in comparison to routine later reimplantation). Our experience suggests that monitoring alone after UV is feasible, and that selective subsequent reconstruction is a reasonable strategy.
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Ureter , Obstrução Ureteral , Humanos , Masculino , Feminino , Obstrução Ureteral/cirurgia , Obstrução Ureteral/etiologia , Pré-Escolar , Lactente , Seguimentos , Estudos Retrospectivos , Ureter/cirurgia , Ureter/anormalidades , Ureter/diagnóstico por imagem , Resultado do Tratamento , Derivação Urinária/métodos , Derivação Urinária/efeitos adversos , Refluxo Vesicoureteral/cirurgia , Refluxo Vesicoureteral/etiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/epidemiologia , Hidronefrose/etiologia , Hidronefrose/cirurgia , Reimplante/métodos , Reimplante/efeitos adversos , Cistostomia/métodosRESUMO
Introduction: Congenital penile curvature (PC), often concomitant with hypospadias, poses challenges in urology. Surgical correction techniques, including plication and corporotomy, lack standardized guidelines. This study aims to address the paucity of high-level evidence by comprehensively reviewing the outcomes of PC correction procedures in patients with and without hypospadias. This will inform clinical decision-making and provide insights for future research and meta-analyses. Methods: We conducted this scoping review in accordance with the JBI Manual for Evidence Synthesis and PRISMA-ScR guidelines. An extensive literature search was performed and comparative studies published in English up to June 2023 were included. The studies were divided into three categories: PC without hypospadias, PC with hypospadias, and studies comparing two or more materials for covering the ventral corporotomy. Data extraction comprised author details, patient characteristics, study design, interventions, outcomes, and complications. Methodological quality was assessed using the Newcastle-Ottawa Scale. Results: Forty-two studies were included in the review, which collectively comprised 3180 patients. Thirteen comparative studies reported the outcomes of surgery for congenital PC without hypospadias, 22 studies compared different techniques of PC correction in patients with hypospadias and 7 studies compared the type of materials for coverage following ventral corporotomy. In cases of PC without hypospadias, the most commonly reported surgery was the Nesbit's plication. For PC with hypospadias correction, the results of ventral corporotomy were superior to that of dorsal plication in most of the studies. The two-stage repair had better results when compared to the one-stage repair for patients with perineo-scrotal hypospadias. In studies comparing materials for coverage of ventral corporotomy, the tunica vaginalis flap or graft was utilized most commonly. The majority of the studies reported a success rate ranging from 85% to 100%. The methodological quality was high in all but four studies. Conclusion: Plication procedures are generally preferred for PC without hypospadias, but they result in penile shortening. For those with hypospadias, corporotomy is associated with superior outcomes than plication, especially for those with severe curvature and redo procedures. For ventral corporotomy coverage, the tunica vaginalis flap or graft is the most commonly reported tissue in the literature.
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INTRODUCTION: A nomogram for predicting the diagnosis of lower urinary tract obstruction (LUTO) based on an antenatal ultrasound index generated from a Bayesian Meta-regression analysis has been in development and noted with superior diagnostic accuracy compared to the keyhole sign (KHS). We aim to assess the accuracy of the nomogram in expanded diagnostic utilization to predict LUTO. METHODOLOGY: The validation of the nomogram for expanded diagnostic utilization was based on data from a prospective institutional antenatal clinic database between January 2020 and June 2022. Diagnostic accuracy indices were determined for confirmed postnatal diagnosis of LUTO or prune belly syndrome (PBS). Receiver operating characteristics (ROC) curves were generated to compare the area under the curve (AUC) of the nomogram versus KHS. RESULTS: Based on 84 male fetuses with antenatal ultrasound of moderate-severe hydronephrosis (PUV n = 15, PBS n = 4), the KHS had 26.3% (95%CI 9.1-51.2) sensitivity and 100% (95%CI 94.4%-100%) specificity, with 14 false-negatives. The nomogram showed a 84.2 (95%CI 60.4%-96.6%) sensitivity and 95.4 (95%CI 87.1%-99%) specificity with three false-positives. The nomogram also had a superior AUC compared to KHS (0.98 vs. 0.63). CONCLUSION: The nomogram can be used as a valuable tool to trigger further postnatal screening and provide individualized risk assessments to families during prenatal counseling.
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Síndrome do Abdome em Ameixa Seca , Sistema Urinário , Humanos , Masculino , Gravidez , Feminino , Nomogramas , Estudos Prospectivos , Teorema de Bayes , Ultrassonografia Pré-NatalRESUMO
INTRODUCTION: The morphology of the bladder and posterior urethra on initial voiding cystourethrogram (VCUG) in posterior urethral valve (PUV) has been proposed as a meaningful early metric for short- and long-term kidney outcomes. Here, we seek to externally validate the proposed association and assess the reliability of PUV morphology characteristics. MATERIALS AND METHODS: We reviewed our institutional database for patients managed for PUV between 2000 and 2022 and included those treated with primary ablation with at least 1 year of follow-up for kidney function. Each VCUG was evaluated by three independent raters for the height-width ratio of the bladder (HW-B), height-width ratio of the posterior urethra (HW-PU), and posterior-anterior urethral ratio (PA-UR), and trabeculation (none, fine, or coarse). We assessed the reliability in these with intra-class coefficient and Fleiss kappa for continuous and categorical data, respectively. We performed univariate analysis with nadir creatinine and five-year follow-up glomerular filtration rate (GFR). RESULTS: In total, 98 patients met inclusion criteria. The median age at diagnosis and ablation was 10 and 21 days, respectively. Patients with nadir creatinine <0.8 mg/dL had higher follow-up GFR (101 vs. 20 ml/min/1.73 m2, p = 0.04), and lower risk of CKD (odds ratio 14.7, p = 0.002). The median value for HW-B was 1.4, median HW-PU was 2.1, and median PA-U was 4.7, There was significant inter-class agreement between all three measures of 0.80, 0.51, and 0.70 (p < 0.001). The inter-rater agreement for bladder trabeculation was fair (Fleiss K = 0.40, p < 0.001). There was no statistically significant correlation between HW-B, HW-PU, PU-A with nadir creatinine (p = 0.07, 0.33, 0.91) or 5-year GFR (0.27, 0.45, 0.62), respectively. DISCUSSION: There is significant interest in determining prognostic factors and metrics in PUV. The morphological characteristics on VCUG are reliable and is available information for all boys diagnosed with PUV, resulting in an attractive metric. While we do not demonstrate correlation with kidney outcomes, VCUG features warrant further attention as prognostic factors in PUV. CONCLUSIONS: PUV morphology on initial VCUG is a reliable metric of lower urinary tract deformity but is not associated with 5-year kidney outcomes.
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Uretra , Obstrução Uretral , Lactente , Masculino , Humanos , Uretra/diagnóstico por imagem , Uretra/cirurgia , Creatinina , Reprodutibilidade dos Testes , Obstrução Uretral/diagnóstico por imagem , Obstrução Uretral/cirurgia , Bexiga Urinária/diagnóstico por imagem , Estudos RetrospectivosRESUMO
Preterm birth prediction is essential for improving neonatal outcomes. While many machine learning techniques have been applied to predict preterm birth using health records, inflammatory markers, and vaginal microbiome data, the role of prenatal oral microbiome remains unclear. This study aimed to compare oral microbiome compositions between a preterm and a full-term birth group, identify oral microbiome associated with preterm birth, and develop a preterm birth prediction model using machine learning of oral microbiome compositions. Participants included singleton pregnant women admitted to Jeonbuk National University Hospital between 2019 and 2021. Subjects were divided into a preterm and a full-term birth group based on pregnancy outcomes. Oral microbiome samples were collected using mouthwash within 24 h before delivery and 16S ribosomal RNA sequencing was performed to analyze taxonomy. Differentially abundant taxa were identified using DESeq2. A random forest classifier was applied to predict preterm birth based on the oral microbiome. A total of 59 women participated in this study, with 30 in the preterm birth group and 29 in the full-term birth group. There was no significant difference in maternal clinical characteristics between the preterm and the full-birth group. Twenty-five differentially abundant taxa were identified, including 22 full-term birth-enriched taxa and 3 preterm birth-enriched taxa. The random forest classifier achieved high balanced accuracies (0.765 ± 0.071) using the 9 most important taxa. Our study identified 25 differentially abundant taxa that could differentiate preterm and full-term birth groups. A preterm birth prediction model was developed using machine learning of oral microbiome compositions in mouthwash samples. Findings of this study suggest the potential of using oral microbiome for predicting preterm birth. Further multi-center and larger studies are required to validate our results before clinical applications.
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Microbiota , Nascimento Prematuro , Gravidez , Feminino , Recém-Nascido , Humanos , Antissépticos Bucais , Microbiota/genética , Resultado da Gravidez , Aprendizado de Máquina , RNA Ribossômico 16S/genéticaRESUMO
X-linked recessive ichthyosis (XLI) is clinically characterized by dark brown, widespread dryness with polygonal scales. We describe the identification of STS and PUDP deletions using targeted panel sequencing combined with copy-number variation (CNV) analysis in XLI. A 9-month-old infant was admitted for genetic counseling. Since the second day after birth, the infant's skin tended to be dry and polygonal scales had accumulated over the abdomen and upper extremities. The infant's maternal uncle and brother (who had also exhibited similar skin symptoms from birth) presented with polygonal scales on their trunks. CNV analysis revealed a hemizygous deletion spanning 719.3 Kb on chromosome Xp22 (chrX:7,108,996-7,828,312), which included a segment of the STS gene and exhibited a Z ratio of -2 in the proband. Multiplex ligation-dependent probe amplification (MLPA) confirmed this interstitial Xp22.31 deletion. Our report underscores the importance of implementing CNV screening techniques, including sequencing data analysis and gene dosage assays such as MLPA, to detect substantial deletions that encompass the STS gene region of Xq22 in individuals suspected of having XLI.
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Ictiose Ligada ao Cromossomo X , Esteril-Sulfatase , Humanos , Lactente , Masculino , Variações do Número de Cópias de DNA/genética , Ictiose Ligada ao Cromossomo X/genética , Ictiose Ligada ao Cromossomo X/diagnóstico , Reação em Cadeia da Polimerase Multiplex , Pele , Esteril-Sulfatase/genéticaRESUMO
Transformational leadership is important to the hotel industry where employees play a critical role in delivering the service. Transformational leadership is a leadership style that causes changes in employees by sharing the organization's vision and goals, providing necessary resources, promoting intellectual stimulation, and expecting high performance. This study uses four dimensions of transformational leadership to investigate how the dimensions influence employees' organizational identification, creativity, and task performance. In order to test the proposed model, data were gathered from employees of six hotels in South Korea. The data were analyzed with SmartPLS 4.0 program. The finding shows that four dimensions of transformational leadership have different effects on organizational identification and creativity. While core transformational leadership and supportive leader behavior enhance employees' organizational identification, which affects creativity and task performance, intellectual stimulation has an impact on creativity, which influences task performance. The post hoc analysis shows that organizational identification fully mediates the relationship between two dimensions of transformational leadership and creativity. This study contributes to the existing literatures of leadership theory and social identification theory by expanding the knowledge on the role of transformational leadership on employees. Some theoretical and practical implications are offered.
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Iron deficiency (ID) in very preterm infants born at 28-32 weeks of gestational age (GA) can lower mental and motor test scores. This study aimed to determine whether the rapid growth of very preterm infants might be associated with ID. Among 134 very preterm born between January 2014 and December 2020 at Jeonbuk National University Hospital and discharged home, 93 were included in this study. Rapid BMI increase (RBI) was defined as a z-score difference of > 1 standard deviation between birth and 8 months. ID occurred in 23 of 93 (24.7%) infants at 8 months of corrected age (CA). ID was more common in the RBI group (50%) than in the non-RBI group (18.7%). In the multivariate logistic regression corrected for GA, infants small for gestational age (SGA) (odds ratio [OR] 6.06, 95% confidence interval [CI] 1.34-30.21) and RBI by z-score (OR 4.26, 95% CI 1.28-14.65) were identified as independent risk factors for ID at 8 months of CA. Conclusively, both SGA and RBI in the early life of very preterm were risk factors for ID at 8 months of CA.