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It can help a certain proportion of balanced translocation carriers to select completely normal embryos while reduce transfer of embryo carrying a balanced translocation.

MaReCs is a reliable method to distinguish the translocation carrier status of embryos of balanced translocation carriers. It can help a certain proportion of balanced translocation carriers to select completely normal embryos while reduce transfer of embryo carrying a balanced translocation.Although non-invasive prenatal testing has been widely used, it has certain limitations. As the gold standard of prenatal diagnosis, G-banding karyotype analysis is time-consuming and laborious. Fluorescence in situ hybridization (FISH), as a method for detecting samples with non-radioactive signals, does not require cell culture and has a short turnover time, and can diagnose aneuploidies of chromosomes 13, 18, 21, X, Y with efficiency, which can solve the problems such as insufficient testing ability and long diagnosis period for karyotype analysis. To standardize the procedures of prenatal FISH assay and enhance laboratory quality management, the Expert Committee of the Prenatal Screening and Diagnosis Laboratory of the Clinical Test Center of the National Health Commission and the Inter-laboratory Quality Assessment Committee of the Neonatal Genetic and Metabolic Disease Screening Laboratory have formulated this consensus.Genomic diseases caused by pathogenic copy number variations (pCNVs) are a group of important causes for birth defects. At present, the methods used to detect CNV mainly include chromosomal microarray analysis (CMA) and copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS). In recent years, CNV detection technology has been widely used in the field of prenatal diagnosis. To standardize the clinical application of such technologies, the authors have formulated a guideline for the application of CNV testing in prenatal diagnosis, which includes the basic requirement, scope of application, clinical testing and consultation, procedure of CNV analysis in prenatal diagnosis, with an aim to better serve the patients.

 According to the Declaration of Helsinki, medical research and new therapeutic interventions involving human subjects require prior informed consent and ethical approval. In 2010, 46% of pediatric surgical publications lacked documentation of ethical approval and 84% lacked documentation of informed parental consent with lowest rates of ethical adherence found in articles concerning novel methods. The aim of this study was to investigate whether adherence to ethical standards has improved in pediatric surgical publications.

 All 3,093 consecutive articles published in

,

, and

over the last 5 years were systematically reviewed for publications describing novel surgical methods. Novel methods were defined as surgical methods not published before or not considered common practice. The publications were reviewed as to whether ethical approval and informed consent to participate was documented.

 In total, 105 articles describing novel surgical methods were identified (61

, 16

, and 28

). Authorlacking in many publications. When implementing new methods, prior ethical approval and informed consent and their documentation are mandatory, specifically in the light of potential hazard to patients.

 In patients with choledochal cysts (CDC), a hyperplasia-dysplasia-carcinoma sequence can lead to biliary tract malignancy. The limited data available suggest that the risk decreases considerably after excision in childhood. We analyzed samples of resected CDC from pediatric patients histologically and performed mutational analysis of the proto-oncogenes

and

as early markers of malignant alteration in cholangiocytes.

 After institutional review board approval, patients undergoing resection for CDC in our center from 2011 to 2019 were retrospectively identified. Histopathological reports were searched for inflammation and endothelial alteration. Cases with sufficient tissue specimen were tested for

codon 12/13 and

codon 600 mutations by pyrosequencing.

 In total, 42 patients underwent resection for choledochal cyst in the study period. Median age at surgery was 2.4 years (range = 18 days-18 years). Histopathological analysis showed no malignancy, but various degrees of inflammation or fibrosis in approximately 50% of the patients and in all age groups. Sufficient tissue for mutation analysis was available for 22 cases, all of which tested negative for

or

mutation.

 In our series, chronic inflammatory changes were frequently present in CDC of infants and children. However, the lack of

and

mutations suggests that no malignant changes have been initiated in this group of European patients undergoing early resection.

 In our series, chronic inflammatory changes were frequently present in CDC of infants and children. However, the lack of KRAS and BRAF mutations suggests that no malignant changes have been initiated in this group of European patients undergoing early resection.

 As a subset of artificial intelligence, machine learning techniques (MLTs) may evaluate very large and raw datasets. In this study, the aim is to establish a model by MLT for the prediction of enuresis in children.

 The study included 8,071 elementary school students. A total of 704 children had enuresis. For analysis of data with MLT, another group including 704 nonenuretic children was structured with stratified sampling. Out of 34 independent variables, 14 with high feature values significantly affecting enuresis were selected. A model of estimation was created by training the data.

 Fourteen independent variables in order of feature importance value were starting age of toilet training, having urinary urgency, holding maneuvers to prevent voiding, frequency of defecation, history of enuresis in mother and father, having child's own room, parent's education level, history of enuresis in siblings, consanguineous marriage, incomplete bladder emptying, frequent voiding, gender, history of urinary tract infection, and surgery in the past. selleck chemicals llc The best MLT algorithm for the prediction of enuresis was determined as logistic regression algorithm. The total accuracy rate of the model in prediction was 81.3%.

 MLT might provide a faster and easier evaluation process for studies on enuresis with a large dataset. The model in this study may suggest that selected variables with high feature values could be preferred with priority in any screening studies for enuresis. MLT may prevent clinical errors due to human cognitive biases and may help the physicians to be proactive in diagnosis and treatment of enuresis.

 MLT might provide a faster and easier evaluation process for studies on enuresis with a large dataset. The model in this study may suggest that selected variables with high feature values could be preferred with priority in any screening studies for enuresis. MLT may prevent clinical errors due to human cognitive biases and may help the physicians to be proactive in diagnosis and treatment of enuresis.

 Evidence supports long-term oral antibiotic prophylaxis to prevent cholangitis after Kasai procedure. Data regarding perioperative intravenous prophylaxis are lacking. Ascending pathogens from the intestine are made responsible for recurrent cholangitis. Therefore, we analyzed the flora in the upper jejunum during the Kasai procedure and their potential impact on postoperative cholangitis.

 In 26 patients, swabs were taken at the bowel prepared for the Roux-en-Y-loop. Our postoperative protocol includes intravenous third-generation cephalosporins for 2 weeks and rectal steroids starting at day 4. Cholangitis was defined as the postoperative reappearance of acholic stools or increase of serum bilirubin in combination with fevers or increase of inflammatory parameters. In this scenario, Tazocin was administered for another 2 weeks.

 Swabs remained sterile in nine patients (34.6%). In 17 patients (65.4%), gram-positive and gram-negative pathogens were identified; all belonging to physiological intestinal as no higher rate of cholangitis in patients with resistant bacteria. Thus, our data do not support the hypothesis of extended postoperative intravenous antibiotics to prevent ascending cholangitis.

 The aim of this study is to report our experience with modified staged buccal mucosa graft urethroplasty for the repair of proximal hypospadias in children and adolescents.

 A total of 183 patients were treated at the Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College between 2010 and 2019. The patients were grouped according to age (1) within 1.5-year-old group, (2) prepuberty group (Tanner stage 1), and (3) puberty group.

 In total, 153 patients were included in this study. Thirty-six patients had complications seven after stage one; 29 after stage two; one patient had two complications. Maximum flow rates were 11.80 ± 1.46 mL/s in the 1.5-year-old group, 13.24 ± 2.61 mL/s in the prepuberty group, and 13.60 ± 2.20 mL/s in the puberty group (

 = 0.199). Average flow rates were 6.86 ± 1.37, 7.94 ± 1.74, and 7.88 ± 1.22 mL/s, respectively (

 = 0.203). The optimal hypospadias objective scoring evaluation score of 16 was seen in 117 patients (76%), the score of 15 in 23 patients (15%), 14 in 10 (7%), and 13 in 3 patients (2%). Patients with an uncomplicated treatment (no complication) had a higher clinical outcome than patients with a complication (15.8 ± 0.53 vs. 15.3 ± 0.97, with or without complication,

 = 0.000). Multivariable analyses showed that previous treatment was closely related to the complication rate (

 = 0.016).

 The modified procedure allows for two-stage repair of proximal hypospadias with good results with a low complication rate and good functional results. Delaying operation did not increase complication rates in our research.

 The modified procedure allows for two-stage repair of proximal hypospadias with good results with a low complication rate and good functional results. Delaying operation did not increase complication rates in our research.The clinical diagnosis of chronic traumatic encephalopathy (CTE) is challenging due to heterogeneous clinical presentations and overlap with other neurodegenerative dementias. Depending on the clinical presentation, the differential diagnosis of CTE includes Alzheimer's disease (AD), behavioral variant frontotemporal dementia (bvFTD), Parkinson's disease, amyotrophic lateral sclerosis, primary mood disorders, posttraumatic stress disorder, and psychotic disorders. The aim of this article is to compare the clinical aspects, genetics, fluid biomarkers, imaging, treatment, and pathology of CTE to those of AD and bvFTD. A detailed clinical evaluation, neurocognitive assessment, and structural brain imaging can inform the differential diagnosis, while molecular biomarkers can help exclude underlying AD pathology. Prospective studies that include clinicopathological correlations are needed to establish tools that can more accurately determine the cause of neuropsychiatric decline in patients at risk for CTE.