Management of congenital cervical atresia with vaginal aplasia: A case report and review of the literature.

INTRODUCTION: Vaginal agenesis is a rare congenital condition, with an incidence of 1 in 4500 female births. CASE REPORT: We present a clinical case of vaginal aplasia with cervical atresia in a 31-year-old woman with primary amenorrhea. We aim to report the diagnostic process and provide a comprehensive outline of different possible treatments. DISCUSSION: The most common etiology of these agenesis cases is Mayer-Rokitansky-Küster-Hauser syndrome associated with uterine aplasia. However, vaginal aplasia can occur in 9 % of cases where the uterus is present. During embryogenesis, the Müllerian ducts give rise to the fallopian tubes, uterus, and upper two-thirds of the vagina, while the lower portion of the vagina develops from the urogenital sinus. Vaginal aplasia arises from a failure in the development of the terminal portion of the paramesonephric ducts. Abdominal pain, especially periodic pain, is the most common symptom, followed by primary amenorrhea. MRI is considered the gold standard for the diagnosis and precise description of female genital tract anomalies. CONCLUSION: Total hysterectomy remains a preferred option for cases of complete vaginal atresia to mitigate the risk of cervical or vaginal stenosis, adhesions, and pelvic inflammation resulting from poor menstrual blood drainage.

Biventricular repair in low-weight patient with interrupted aortic arch and aortic atresia.

BACKGROUND: Aortic atresia with ventricular septal defect is a very rare congenital cardiac anomaly, especially in combination with aortic arch interruption. It is always challenging to choose the optimal treatment tactics for such patients. One of the possible types of intervention is the Yasui procedure. There are only 19 reported cases in the literature of aortic atresia with interruption of the aortic arch type B or C, and not a single clinical case of type A. CASE PRESENTATION: The proband was a 2-day-old boy with diagnosis: aortic atresia with a ventricular septal defect and interruption of the aortic arch type B. The child underwent a Yasui procedure without serious postoperative complications and with good long-term result. CONCLUSIONS: The Yasui procedure in patients with aortic atresia and interrupted aortic arch can be performed with minimal complications, even in low-weight patients.

Use of stool color card as screening tool for biliary atresia in resource-constraint country.

Aim: The study was aimed to find out the efficacy of a stool color card (SCC) in differentiating biliary atresia (BA) from non-BA in resource-limited countries. Background: stool color screening system was introduced in 2004 which lead to marked improvement in sensitivity of detecting BA. Methods: This cross-sectional observational study was conducted from January, 2019 through July, 2022 on purposively sampled infants who developed jaundice before three months of age, had direct bilirubin of > 20 % of total with pale stool and dark urine. Results: 144 cases (male, 96) were included in the study and their mean age at admission was 87.3±37.2 days and mean age at onset of jaundice was 6.1±7.7 days. BA was confirmed in 106 (73.6%) cases and 38 (26.4%) children were in non-BA group. Frequency of persistent pale stool between BA and non- BA were 88 vs 8 (83.0 % Vs 21.0 %) which was highly significant (p=0.000). Mean difference of total and direct serum bilirubin, median alanine transferase and alkaline phosphatase were not statistically significant between two groups. Median of serum gamma glutamyl transpeptidase (GGT) in BA was 570 U/L and in non-BA it was 138.0 U/L which was statistically significant (p=0.000). The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of SCC were 83%, 78.9%, 91.7%, 62.5% and 81.9% respectively. Conclusion: SCC has good sensitivity to diagnose BA but failed to prove better specificity to rely simply on it. SCC may be used as early screening tool for prompt referral to appropriate medical care centers for final evaluation of BA.

Achieving Digestive Autonomy and Gastrointestinal Continuity in a Patient with Short Bowel Syndrome Secondary to Concomitant Jejunal Atresia and Small Intestinal Hirschsprung's Disease.

Concomitant presentation of jejunal atresia and Hirschsprung's disease is rare and places children at high risk for developing short bowel syndrome and parenteral nutrition dependence, which can affect the feasibility/timing of pull-through. A patient was born with jejunal atresia with a delayed diagnosis of Hirschsprung's disease. After several procedures and bowel resections, the patient was ultimately left with an end jejunostomy and long Hartman's pouch with short bowel syndrome, dependent on parenteral nutrition. The patient initially presented to our institution at age 2 with failure to thrive secondary to an obstructed/dilated jejunostomy and mild enterocolitis of their defunctionalized segment. The patient subsequently underwent completion of subtotal colectomy and revision of jejunostomy utilizing a serial transverse enteroplasty to manage the dilated bowel and gain length. The patient was able to wean off parenteral nutrition and achieve nutritional autonomy by age 5. Following this, the patient was able to undergo an ileoanal pull-through. After the pull-through, the patient was able to pass stool independently and suffered no major complications to date. Serial transverse enteroplasty can be successfully utilized in patients with a history of Hirschsprung's disease and jejunal atresia to achieve nutritional autonomy and ultimately reestablish gastrointestinal continuity with pull-through.

Utility of the web excision with pre-membranous incision for congenital intestinal atresia-type I and stenosis.

PURPOSE: This study analyzed the efficacy of web excision combined with a pre-membranous incision on the dilated proximal segment for congenital intestinal atresia with type I and stenosis (CIA-I/S). PATIENTS AND METHODS: Twenty-six patients underwent surgery for CIA-I/S from January 1990 to June 2022. Patients were categorized into 3 groups according to the surgical procedure: Group A, web excision with pre-membranous incision of the dilated intestine (n = 14); Group B, enteroplasty with a trans-membranous vertical incision (n = 7) and Group C, diamond-shaped anastomosis (n = 5). To minimize the impact of obstruction location on outcomes, we specifically examined 17 cases of duodenal atresia/stenosis: Group D-A, (n = 6); Group D-B, (n = 6) and Group D-C, (n = 5). We retrospectively compared the operative and postoperative parameters among the three groups. RESULTS: No patient experienced anastomotic leakage or obstruction. There were no significant differences in operative duration or blood loss among the 3 Groups. The median time to feeding initiation was 4, 6.5, and 5 days in Groups A, B, and C, respectively (p = 0.04) and was 4, 6.5, and 5 days in Groups D-A, D-B, and D-C, respectively (p = 0.04). CONCLUSION: Web excision, when compared to enteroplasty and diamond-shaped anastomosis, showed comparable results in terms of the operative duration and postoperative complications. However, it may allow for an earlier initiation of enteral nutrition.

Type 3B jejunoileal atresia management at a tertiary hospital in northern Tanzania: A report of three cases.

Key Clinical Message: Jejunalileal atresia is a cause of intestinal obstruction in the newborn, hence a surgical emergency. Prenatal diagnosis can be made by simple obstetric ultrasound and postnatal by plain abdominal x-ray to plan a multidisciplinary approach to reduce morbidity and neonatal mortality. Abstract: Atresia can occur anywhere along the intestines and is a common cause of intestinal obstruction in neonates. Jejunoileal atresia (JIA) is a rare disease occurring in 2.1 per 10,000 live births. Type 3b jejunoileal atresia occurs in 11% of all small bowel atresia. We present three cases of type 3b jejunoileal atresia. They were all missed by prenatal ultrasonography, and presented with features of intestinal obstruction. The diagnosis was confirmed by plain abdominal x-rays and ultrasound, followed by laparotomy. Postoperative care was given in the neonatal unit according to local protocols. One recovered, however, two succumbed from neonatal infection. Jejunoileal atresia requires surgery and long postoperative care, with outcomes associated with numerous prognostic factors including multidisciplinary care and neonatal intensive care. Jejunoileal atresia is less commonly associated with other congenital anomalies, unlike duodenal atresia. Efforts are needed to scale up prenatal diagnosis of jejunoileal atresia, and therefore to plan for appropriate care after delivery. Also, further studies are needed to understand neonatal sepsis in the postoperative period and ways to improve outcomes.

Gut Bifidobacterium longum is associated with better native liver survival in patients with biliary atresia.

Background & Aims: The gut microbiome plays an important role in liver diseases, but its specific impact on biliary atresia (BA) remains to be explored. We aimed to investigate the microbial signature in the early life of patients with BA and to analyze its influence on long-term outcomes. Methods: Fecal samples (n = 42) were collected from infants with BA before and after Kasai portoenterostomy (KPE). The stool microbiota was analyzed using 16S rRNA next-generation sequencing and compared with that of age-matched healthy controls (HCs). Shotgun metagenomic sequencing analysis was employed to confirm the bacterial composition in 10 fecal samples before KPE. The correlation of the microbiome signature with liver function and long-term outcomes was assessed. Results: In the 16S rRNA next-generation sequencing analysis of fecal microbiota, the alpha and beta diversity analyses revealed significant differences between HCs and patients with BA before and after KPE. The difference in microbial composition analyzed by linear discriminant analysis and random forest classification revealed that the abundance of Bifidobacterium longum (B. longum) was significantly lower in patients before and after KPE than in HCs. The abundance of B. longum was negatively correlated with the gamma-glutamyltransferase level after KPE (p <0.05). Patients with early detectable B. longum had significantly lower total and direct bilirubin 3 months after KPE (p <0.005) and had a significantly lower liver transplantation rate (hazard ratio: 0.16, 95% CI 0.03-0.83, p = 0.029). Shotgun metagenomic sequencing also revealed that patients with BA and detectable B. longum had reduced total and direct bilirubin after KPE. Conclusion: The gut microbiome of patients with BA differed from that of HCs, with a notable abundance of B. longum in early infancy correlating with better long-term outcomes. Impact and implications: Bifidobacterium longum (B. longum) is a beneficial bacterium commonly found in the human gut. It has been studied for its potential impacts on various health conditions. In patients with biliary atresia, we found that a greater abundance of B. longum in the fecal microbiome is associated with improved clinical outcomes. This suggests that early colonization and increasing B. longum levels in the gut could be a therapeutic strategy to improve the prognosis of patients with biliary atresia.

Identification of diagnostic biomarkers and potential therapeutic targets for biliary atresia via WGCNA and machine learning methods.

Biliary atresia (BA) is a severe and progressive biliary obstructive disease in infants that requires early diagnosis and new therapeutic targets. This study employed bioinformatics methods to identify diagnostic biomarkers and potential therapeutic targets for BA. Our analysis of mRNA expression from Gene Expression Omnibus datasets revealed 3,273 differentially expressed genes between patients with BA and those without BA (nBA). Weighted gene coexpression network analysis determined that the turquoise gene coexpression module, consisting of 298 genes, is predominantly associated with BA. The machine learning method then filtered out the top 2 important genes, CXCL8 and TMSB10, from the turquoise module. The area under receiver operating characteristic curves for TMSB10 and CXCL8 were 0.961 and 0.927 in the training group and 0.819 and 0.791 in the testing group, which indicated a high diagnostic value. Besides, combining TMSB10 and CXCL8, a nomogram with better diagnostic performance was built for clinical translation. Several studies have highlighted the potential of CXCL8 as a therapeutic target for BA, while TMSB10 has been shown to regulate cell polarity, which was related to BA progression. Our analysis with qRT PCR and immunohistochemistry also confirmed the upregulation of TMSB10 at mRNA and protein levels in BA liver samples. These findings highlight the sensitivity of CXCL8 and TMSB10 as diagnostic biomarkers and their potential as therapeutic targets for BA.

Transient hypogammaglobulinemia of infancy and unclassified syndromic immunodeficiencies are highly common in oesophageal atresia patients.

Due to the high rate of post-operative sepsis and other infectious complications, a routine immunological screening protocol has been initiated since 2015 in our paediatric surgery clinic for all patients admitted with oesophageal atresia (EA) and warrant a delayed definitive treatment. In our study, we aimed to evaluate the immunodeficiencies in EA patients, by comparing them to healthy age-matched controls. As a prospective cohort study, EA patients admitted between 2015 and 2022, who had their definitive operation after the newborn period (>28 days of age) were included. On admission, serum concentrations of IgG, IgA, IgM, lymphocyte subset levels, C3 and C4 levels, specific IgG antibody responses against hepatitis B, hepatitis A, measles, varicella zoster were evaluated. The patients were age-matched with healthy controls to compare the results and followed up until three years of age. If a humoral immunodeficiency was detected, intravenous immunoglobulin treatment was administered before major oesophageal surgery and during follow-up. 31 EA patients (18 M/13F) with a mean age of 13.3 ± 9.0 months were compared with 40 age-matched healthy controls. Mean serum IgG levels were found to be statistically lower than controls in all age groups (P < .05). Transient hypogammaglobulinemia of infancy (THI) and unclassified syndromic immunodeficiencies (USI) were found to be strikingly high, accounting for 29.0% and 22.5%, respectively, adding up to 51.5% of EA patients. This is the first study evaluating immunodeficiencies in EA patients found in the reviewed literature. More than half of EA patients that required delayed surgery had humoral immunodeficiency, so preoperative screening and immunology referral may improve patient outcomes.

Biliary atresia and cholestasis plasma non-targeted metabolomics unravels perturbed metabolic pathways and unveils a diagnostic model for biliary atresia.

The clinical diagnosis of biliary atresia (BA) poses challenges, particularly in distinguishing it from cholestasis (CS). Moreover, the prognosis for BA is unfavorable and there is a dearth of effective non-invasive diagnostic models for detection. Therefore, the aim of this study is to elucidate the metabolic disparities among children with BA, CS, and normal controls (NC) without any hepatic abnormalities through comprehensive metabolomics analysis. Additionally, our objective is to develop an advanced diagnostic model that enables identification of BA. The plasma samples from 90 children with BA, 48 children with CS, and 47 NC without any liver abnormalities children were subjected to metabolomics analysis, revealing significant differences in metabolite profiles among the 3 groups, particularly between BA and CS. A total of 238 differential metabolites were identified in the positive mode, while 89 differential metabolites were detected in the negative mode. Enrichment analysis revealed 10 distinct metabolic pathways that differed, such as lysine degradation, bile acid biosynthesis. A total of 18 biomarkers were identified through biomarker analysis, and in combination with the exploration of 3 additional biomarkers (LysoPC(18:2(9Z,12Z)), PC (22:5(7Z,10Z,13Z,16Z,19Z)/14:0), and Biliverdin-IX-α), a diagnostic model for BA was constructed using logistic regression analysis. The resulting ROC area under the curve was determined to be 0.968. This study presents an innovative and pioneering approach that utilizes metabolomics analysis to develop a diagnostic model for BA, thereby reducing the need for unnecessary invasive examinations and contributing to advancements in diagnosis and prognosis for patients with BA.

Development of a diagnostic model for biliary atresia based on MMP7 and serological tests using machine learning.

OBJECTIVE: To develop a machine learning diagnostic model based on MMP7 and other serological testing indicators for early and efficient diagnosis of biliary atresia (BA). METHODS: A retrospective analysis was conducted on patient information from those hospitalized for pathological jaundice at Beijing Children's Hospital between January 1, 2019, and December 31, 2023. Patients with serum MMP7, liver stiffness measurements, and other routine serological tests were included in the study. Six machine learning models were constructed, including logistic regression (LR), random forest (RF), decision tree (DET), support vector machine classifier (SVC), neural network (MLP), and extreme gradient boosting (XGBoost), to diagnose BA. The area under the receiver operating characteristic curve was used to evaluate the diagnostic efficacy of the various models. RESULTS: A total of 98 patients were included in the study, comprising 64 BA patients and 34 patients with other cholestatic liver diseases. Among the six machine learning models, the XGBoost algorithm model and RF algorithm model achieved the best predictive performance, with an AUROC of nearly 100% in both the training and validation sets. In the training set, these two algorithm models achieved an accuracy, precision, recall, F1 score, and AUROC of 1. Through model interpretation analysis, serum MMP7 levels, serum GGT levels, and acholic stools were identified as the most important indicators for diagnosing BA. The nomogram constructed based on the XGBoost algorithm model also demonstrated convenient and efficient diagnostic efficacy. CONCLUSION: Machine learning models, especially the XGBoost algorithm and RF algorithm models, constructed based on preoperative serum MMP7 and serological tests can diagnose BA more efficiently and accurately. The most important influencing factors for diagnosis are serum MMP7, serum GGT, and acholic stools.

Systematic review of the mechanism and assessment of liver fibrosis in biliary atresia.

PURPOSE: This study systematically reviewed our team's research on the mechanism and assessment of liver fibrosis in BA, summarized our experience, and discussed the future development direction. METHODS: In this study, Pubmed and Wanfang databases were searched to collect the literature published by our team on the mechanisms of liver fibrosis in BA and the assessment of liver fibrosis in BA, and the above research results were systematically reviewed. RESULTS: A total of 58 articles were retrieved. Among the included articles, 25 articles related to the mechanism of liver fibrosis in BA, and five articles evaluated liver fibrosis in BA. This article introduces the key pathways and molecules of liver fibrosis in BA and proposes a new grading system for liver fibrosis in BA. CONCLUSIONS: The new BA liver fibrosis grading method is expected to assess children's conditions, guide treatment, and improve prognosis more accurately. In addition, we believe that the TGF-ß1 signaling pathway is the most important in the study of liver fibrosis in BA, and at the same time, the study of EMT occurrence in BA should also be deepened to resolve the controversy on this issue.

Combined Predictors of Long-Term Outcomes of Kasai Surgery in Infants with Biliary Atresia.

Purpose: Biliary atresia (BA) is the leading cause of neonatal cholestasis (25-45%). The primary treatment is hepatic portoenterostomy (Kasai procedure), but only 20-40% provide long-term benefits. This study aimed to develop a predictive model for surgical efficacy by comparing preoperative and early postoperative indicators in infants with different outcomes. Methods: We enrolled 166 infants with BA (93 girls, 73 boys) who underwent the Kasai procedure between September 2002 and December 2021, dividing them into favorable or adverse outcome groups. Over 40 parameters were measured, and the diagnostic significance of the prognostic model was evaluated. Results: Kasai surgery was efficacious in 69 patients (42%) and non-efficacious in 97 (58%). Our model assesses efficacy by day 14 after surgery, improving on the <34 µmol/L direct bilirubin threshold established for 3-6 months after the procedure. Including the Desmet fibrosis score refined the model. Conclusion: Blood cholesterol below 5.41 mmol/L, direct bilirubin below 56.3 µmol/L on postoperative days 14±3, and a low Desmet score indicate a high probability of efficacious Kasai surgery in infants with BA.

Increased Diastolic Energy Loss Associated with Cardiac Events in Adults with Pulmonary Atresia Suffering from Intact Ventricular Septum.

PURPOSE: To assess right heart diastolic energy loss (EL) as a cardiac workload and evaluate its association with major cardiac events (MACE) in adult patients with pulmonary atresia with an intact ventricular septum (PAIVS). METHODS: We retrospectively enrolled and compared 30 consecutive adult patients (18 with PAIVS and 12 with pulmonary stenosis [PS] as controls) who underwent right ventricular (RV) outflow tract reconstruction and 4D flow MRI. EL, conventional parameters on MRI, and the severity of tricuspid regurgitation (TR) on echocardiography were assessed. We also evaluated the association between MACE including arrhythmias, heart failure, surgical intervention, and imaging parameters in adults with PAIVS. RESULTS: Patients with PAIVS were younger, had a higher diastolic EL/cardiac output (CO) ratio, and had a more significant TR than those with PS (controls). However, RV volume, ejection fraction (EF), and pulmonary regurgitation (PR) severity did not differ between the two groups. Higher RV end-diastolic pressure (EDP) and lower cardiac index (CI) correlated with the diastolic EL/CO in patients with PAIVS. Univariate logistic analysis demonstrated that older age and a higher diastolic EL/CO ratio were important factors for MACE in adults with PAIVS (P = 0.048, 0.049). CONCLUSION: A higher diastolic EL/CO ratio was associated with a higher RV EDP and lower CI. A high diastolic EL/CO ratio is also associated with MACE in adults with PAIVS. Even in adults with normal RV volume and EF, the right heart EL was elevated, suggesting an excessive right-sided cardiac workload that integrated both afterload and preload beyond the RV size in adult patients with PAIVS.

Major aortopulmonary collateral arteries: clinical, echocardiographic, and radiologic characteristics.

Purpose: Major aortopulmonary collateral arteries (MAPCAs) are rare congenital anomalies with significant clinical implications, often associated with congenital heart diseases like tetralogy of Fallot (TOF) and pulmonary atresia (PA). This study aimed to investigate the clinical, echocardiographic, and radiologic characteristics of MAPCAs in patients with congenital heart diseases admitted to our clinic between 2016 and 2023. Material and methods: A retrospective analysis of 46 cases was conducted using chest computed tomography exams performed on a dual-source 128-slice CT scanner. Clinical data and radiologic characteristics were collected and analysed. Results: The study revealed a strong correlation between congenital heart diseases and the presence of MAPCAs, with TOF, PA, and ventricular septal defect (VSD) being the most common, and it indicated that these collaterals may exist with non-diagnosed congenital heart disease. Tricuspid regurgitation and aortic insufficiency were the predominant echocardiographic findings. Radiologically, MAPCAs primarily originated from the descending aorta (type II) in 85% of cases, and their sizes ranged from ≤ 3 mm to > 10 mm, with an average of 5 mm. Conclusions: This study provides comprehensive insights into the clinical and radiologic aspects of MAPCAs in patients with congenital heart diseases. The findings emphasise the importance of early detection and intervention for better managing of these complex conditions and the need for further research.

Pulmonary Atresia with Intact Ventricular Septum: Correlation of Preoperative Computed Tomography-Derived Parameters with Echocardiographic Tricuspid Valve Z-Score and Surgical Outcomes.

The role of preoperative cardiac computed tomography (CT) in neonates with pulmonary atresia and intact ventricular septum (PA-IVS) remains unclear. This study was aimed to elaborate the role of preoperative CT-derived anatomical and functional findings in planning treatment strategies in neonates with PA-IVS. The presence of ventriculocoronary arterial connections was evaluated by CT. CT-derived ventricular volumetric parameters were compared and correlated with echocardiographic tricuspid valve (TV) z-score in 12 neonates with PA-IVS. Cardiac CT and echocardiographic findings were compared between definite surgical types (median follow-up, 4 years). Ventriculocoronary arterial connections were identified with CT in 58.3% of cases (7/12) and associated with higher incidence of Fontan procedure (42.9%, 3/7) and high mortality (28.6%, 2/7). The CT-derived and echocardiographic TV z-scores exhibited a high correlation (R = 0.924, p < 0.001). The CT-derived right ventricle (RV) volume and RV-left ventricle volume ratio also displayed high correlations (R = 0.875 and 0.867, respectively; p < 0.001) with echocardiographic TV z-score. More positive echocardiographic TV z-score, high CT-derived RV end-diastolic volume and RV-left ventricle volume ratio, and low CT-derived left ventricular end-diastolic volume were observed in biventricular surgery group (N = 2), compared to Fontan operation (N = 3) and 1.5 ventricular surgery (N = 3) groups, and mortality cases (N = 3). Preoperative CT-derived coronary artery anatomy and ventricular volumetric parameters may supplement treatment planning in neonates with PA-IVS especially when multifactorial decision including echocardiographic TV z-score is in a gray zone.W.

Analysis of gut microecological characteristics and differences between children with biliary atresia and non-biliary atresia in infantile cholestasis.

Introduction: In infants with cholestasis, variations in the enterohepatic circulation of bile acids and the gut microbiota (GM) characteristics differ between those with biliary atresia (BA) and non-BA, prompting a differential analysis of their respective GM profiles. Methods: Using 16S rDNA gene sequencing to analyse the variance in GM composition among three groups: infants with BA (BA group, n=26), non-BA cholestasis (IC group, n=37), and healthy infants (control group, n=50). Additionally, correlation analysis was conducted between GM and liver function-related indicators. Results: Principal component analysis using Bray-Curtis distance measurement revealed a significant distinction between microbial samples in the IC group compared to the two other groups. IC-accumulated co-abundance groups exhibited positive correlations with aspartate aminotransferase, alanine aminotransferase, total bilirubin, direct bilirubin, and total bile acid serum levels. These correlations were notably reinforced upon the exclusion of microbial samples from children with BA. Conclusion: The varying "enterohepatic circulation" status of bile acids in children with BA and non-BA cholestasis contributes to distinct GM structures and functions. This divergence underscores the potential for targeted GM interventions tailored to the specific aetiologies of cholestasis.

Pulmonary Atresia with Intact Ventricular Septum, a National Comparison Between Interventional and Surgical Approach, in Combination with a Systemic Literature Review.

This study aimed to compare long-term morbidity in patients with pulmonary atresia with intact ventricular septum (PA-IVS) treated with catheter-based intervention (group A) versus those undergoing heart surgery (group B) as initial intervention. Additionally, we conducted a systematic literature review on PA-IVS treatment. All neonates born in Sweden with PA-IVS between 2007 and 2019 were screened for inclusion. The inclusion criterion was decompression of the right ventricle for initial intervention. Medical records were reviewed, as well as the initial preoperative angiogram, and the diagnostic echocardiogram. Comparisons between groups were performed with Mann-Whitney U-test and Fisher´s exact test. A systematic literature review of original studies regarding treatment of PA-IVS (2002 and onward) was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, to assess the outcomes of patients with PA-IVS. 34 (11 females) patients were included, 18 in group A and 16 in group B. There was no mortality in either group. Follow-up time ranged from 2 to 15 years (median 9). All attempted perforations in group A were successful, and 16 out of 18 patients reached biventricular circulation. In the surgical group 15 out of 16 patients reached biventricular circulation. The literature review presented heterogeneity in standards for treatment. This retrospective population-based multicenter study demonstrates that both catheter-based intervention and heart surgery are safe procedures. Our results are comparable to, or exceed, those in the systematic literature review. The systematic literature review displays a great heterogeneity in study design, with no definitive golden standard treatment.

Evidence for seasonal shift in the reproduction of Aldabra giant tortoises (Aldabrachelys gigantea) in managed care in the Northern hemisphere compared to the natural habitat in the Southern hemisphere.

Ex situ breeding constitutes an important tool for species conservation; however, many reptile species are not managed sustainably under human care due to poor fecundity in ex situ settings. In this study, we tested whether the translocation of a seasonally reproducing species to a different environment results in decoupling of extrinsic signals and intrinsic conditions. The endocrinological patterns of plasma steroid sex hormones, follicular development, and mating behaviour of two female and two male sexually mature Aldabra tortoises (Aldabrachelys gigantea) in a zoological institution in the Northern hemisphere was aligned with enclosure climate data (mean monthly daylight duration, temperature, and precipitation) and compared with respective hormone patterns of wild individuals and climate conditions in the native habitat on the Aldabra Atoll in the Southern hemisphere. Whereas occurrence of mating behaviour was not considered a limiting factor, lack of ovulation and subsequent follicular atresia was the main reason for the lack of reproductive output. While it was impossible to elucidate the triggering factors of ovulation and the multifactorial complexity of reproduction was not fully addressed, this study indicates suboptimal temperature conditions and relative temporal shifts of interacting external triggers (temperature and photoperiod) in the zoo setting.

Serum matrix metalloproteinase-7 for discriminating biliary atresia: a diagnostic accuracy and validation study.

BACKGROUND: Prompt and precise differential diagnosis of biliary atresia (BA) among cholestatic patients is of great importance. Matrix metalloproteinase-7 (MMP-7) holds great promise as a diagnostic marker for BA. This study aimed to investigate the accuracy of age-specific serum MMP-7 for discriminating BA from other cholestatic pediatric patients. METHODS: This was a single center diagnostic accuracy and validation study including both retrospective and prospective cohorts. Serum MMP-7 concentrations were measured using an ELISA kit, the trajectory of which with age was investigated in a healthy infants cohort aged 0 to 365 days without hepatobiliary diseases (n = 284). Clinical BA diagnosis was based on intraoperative cholangiography and subsequent histological examinations. The diagnostic accuracy of age-specific cutoffs of serum MMP-7 were assessed in a retrospective cohort of cholestatic patients (n = 318, with 172 BA) and validated in a prospective cohort (n = 687, including 395 BA). RESULTS: The MMP-7 concentration declines non-linearly with age, showing higher levels in healthy neonates as well as higher cutoff value in neonatal cholestasis. The area under the ROC curve (AUROC) was 0.967 (95% confidence interval [CI]: 0.946-0.988) for the retrospective cohort, and the cutoff of 18 ng/mL yielded 93.0% (95%CI: 88.1-96.3%), 93.8% (95%CI: 88.6-97.1%), 94.7% (95%CI: 90.1-97.5%), and 91.9% (95%CI: 86.4-95.8%) for sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), respectively. The performance of MMP-7 was successfully validated in the larger prospective cohort, resulting in a diagnostic sensitivity of 95.9% (379/395; 95% CI: 93.5-97.7%), a specificity of 87.3% (255/292; 95% CI: 83.0-90.9%), a PPV of 91.1% (379/416; 95% CI: 87.9-93.7%), and a NPV of 94.1% (255/271; 95% CI: 90.6-96.6%), respectively. Besides, higher cutoff value of 28.1 ng/mL achieved the best sensitivity, specificity, PPV, and NPV for infants aged 0-30 days, which was 86.4% (95% CI: 75.0-94.0%), 95.5% (95% CI: 77.2-99.9%), 98.1% (95% CI: 89.7-100%), and 72.4% (95% CI: 52.8-87.3%), respectively. CONCLUSIONS: The serum MMP-7 is accurate and reliable in differentiating BA from non-BA cholestasis, showing its potential application in the diagnostic algorithm for BA and significant role in the future research regarding pathogenesis of BA.