A large-scale investigation by ultrasound of fetal hepatic venous system variants in China

Aim: To investigate the types, associated anomalies and postnatal outcomes of fetal hepatic venous system (HVS) variants by ultrasound in China.Material and methods: A large-scale and prospective investigation of HVS variants for low-risk singleton pregnant women was performed in three academic tertiary referral care centers in China. Ultrasound imaging wasused for the identification and follow-up of anatomical variants. Follow-up was conducted once every four weeks prenatally and every two months postnatally, mainly concerned on the adverse events that may appear.Results: There were 20848 cases with anatomical variants of fetal HVS identified from 46179 candidates during the study period. Following the anatomical position of variants occurring, four main divisions were present: main portal vein variants (17.9%), intrahepatic portal vein variants (21.30%), intrahepatic persistent right umbilical vein (0.27%) and hepatic vein variants (5.67%). In the fetal period, the pregnancy of all cases was normally continued, except that the pregnancy of two cases, which were associated with multiple anomalies and were terminated by their parents. After birth, approximately 99.47% of the cases with isolated variants orbeing associated no clinic significant anomalies were normally alive. Approximately 0.50% cases were associated with simple ventricular septum defect or tetralogy of Fallot and further treatment was needed.Conclusion: The anatomical variants of fetal HVS may appear as numerical, morphological or positional variants of MPV, intrahepatic PV branches, intrahepatic PRUV and HVs. The majority of cases are isolated or their associated anomalies are not clinically significant and have normal lifeafter birth.

Management of Interrupted Aortic Arch With Associated Anomalies: A Single-Center Experience

Objectives Interrupted aortic arch (IAA) includes a broad spectrum of associated anomalies. In this study, we present our surgical management and patient-specific decisions regarding IAA anomalies with early- and mid-term outcomes. Methods The medical records of 25 patients undergoing IAA repair between 2014 and 2019 were retrospectively reviewed. Sixteen patients had type B (64%) interruptions, 7 had type A (28%) interruptions, and 2 had type C (8%) interruptions. Fourteen patients had an isolated ventricular septal defect, and 3 of them had associated left ventricular outflow tract obstruction. Other associated anomalies were functional single ventricle (n = 5), Taussig–Bing anomaly (n = 3), aortopulmonary window (n = 1), multiple ventricular septal defects (n = 1), and truncus arteriosus with dextrocardia (n = 1). The initial operation age was 17.2 ± 14 (range: 1 - 60) days. Results Single-stage total repair was performed for 15 patients. Six patients underwent aortic arch repair and pulmonary artery banding. Four patients with left ventricular outflow tract obstruction or who were premature underwent the hybrid procedure. The aortic arch repair was performed in 16 cases (64%) by the anterior patch augmentation technique, in 3 cases (12%) by the reverse left subclavian artery flap technique, and in 3 cases (12%) by direct end-to-end anastomosis. Postoperative early mortality occurred in 4 (16%) patients, and sternal closure was delayed in 13 (52%) patients. Three patients who underwent a hybrid procedure due to left ventricular outflow tract obstruction underwent biventricular repair 8 to 13 months later. Eight patients (38%) required reintervention due to arch restenosis during the follow-up period. The mean follow-up was 37.1 ± 21.7 months. Conclusion Planning surgical treatment according to the characteristics of the patients and accompanying anomalies may improve the results.

A Review of the Therapeutic Management of Multiple Ventricular Septal Defects

Background and Aim: We showed in our anatomical review, ventricular septal defects existing as multiple entities can be considered in terms of three major subsets. We address here the diagnostic challenges, associated anomalies, the role and techniques of surgical instead of interventional closure, and the outcomes. including reinterventions, for each subset. Methods: We reviewed 80 published investigations, noting radiographic findings, and the results of clinical imaging elucidating the location, number, size of septal defects, and associated anomalies, and the effect of severe pulmonary hypertension. Results: Overall, perioperative mortality for treatment of residual multiple defects has been cited to be between zero and 14.2%, with morbidity estimated between 6% to 13%. Perioperative mortality is twice as high for perimembranous compared to muscular defects, with need for reoperation is over four times higher. Perventricular hybrid approaches are useful for closure of high anterior or apical defects. Overall, results have been unsatisfactory. Pooled data reveals incidences between 2.8% and 45% for device-related adverse events. Currently, however, outcomes cannot be assessed on the basis of the different anatomical sub-sets. Conclusions: We have addressed the approaches, and the results, of therapeutic treatment in terms of co-existing discrete defects, the Swiss-cheese septum, and the arrangement in which a solitary apical muscular defect gives the impression of multiple defects when viewed from the right ventricular aspect. Treatment should vary according to the specific combination of defects.

An impacted urethral stone: a rare cause of acute urinary retention in women—case report

Background Urethral calculi are rare, representing 1–2% of all calculi affecting the urinary tract. Impacted urethra calculi are commoner in males due to anatomical differences between the male and female urethra. The treatment approach is determined by the size and location of the stone, associated anomalies and available facilities. Case presentation We present the case of 35-year-old woman who presented with acute urinary retention secondary to an impacted urethral stone. The calculus could not be removed through the external urethral meatus due to the size of the stone. She had cystolithotomy after retrograde manipulation to the bladder. She did well postoperatively. This line of management was based on the size of the stone, and the available facilities which are typical of many hospitals in developing countries. Conclusions Urethral calculi are extremely rare in women. The treatment should be individualized.

Diagnóstico prenatal de iniencefalia. Reporte de caso.

Iniencephaly is an infrequent and fatal neural tube defect that affects the occiput and neck, this occurs together with the widening of the foramen magnum, rachischisis and marked retro-flexion of the head. This entity belongs to the group of defects of neural tube closure. About 200 reports have been published in the literature. A diagnosis can be made using an ultrasound morphology test that is easy to perform due to the characteristic findings of the condition. Associated anomalies of the nervous system and other systems are frequently present during the ultrasound evaluation. Prenatal diagnosis of a neural tube defect that involves occipital defects and spinal and thoracic spine rachischisis accompanied by retro-flexion of the head should raise the diagnostic suspicion of iniencephaly. The prognosis is particularly bad with only a few cases of survival. Keywords: Iniencefalia, Neural tube defect, Prenatal diagnosis.

1124 Is Delayed Presentation A Prognostic Factor for The Survival of Patients with Esophageal Atresia More Than Associated Anomalies? Comparison Between Different Social Realities

Background The aim is to evaluate if different social reality could represent a prognostic factor as associated anomalies affecting survival of neonates with esophageal atresia (EA). Method Retrospective analysis of records of neonates with EA with or without Tracheoesophageal Fistula (TEF) from January 2011 to September 2018 at Policlinico San Matteo Pavia, Italy(SMAT) and the All India Institute of Medical Sciences New Delhi, India (AIIMS).Survival was correlated with the presence of anomalies, different types and the number of organ systems involved.Age at presentation and birth weight were considered to find an association with mortality. Results Out of 180 patients,162 were from AIIMS and 18 from SMAT.The overall mortality was 28.85%, which occurred at AIIMS, being 0% at SMAT.83.33% at SMAT and 72.84% at AIIMS had associated anomalies.The mortality was 25% for neonates without an anomaly, being 26.15% for those with one (p > 0.05).No statistically significant correlation between outcome and associated anomalies was found.Instead, survival declines gradually as the age at presentation increases. Conclusions The presence of associated anomalies paradoxically does not affect the outcome because incidence of delayed presentation has a stronger effect than the presence of associated anomalies. Sensibilization is necessary to improve survival in EA neonates in developing countries, such as India.

Unilateral opaque chest radiograph in paediatrics: A case series

Pulmonary underdevelopment is a rare congenital disease which manifests as persistent hemithorax opacification at chest radiography. We present three patients with different types of pulmonary underdevelopment, their imaging features and associated anomalies. Case 1 is a premature neonate with persistent respiratory distress. Further imaging confirmed right pulmonary hypoplasia, associated with a patent foramen ovale, patent ductus arteriosus and vertebral anomalies. Case 2 is a 6-year-old child with corrected anorectal malformation, and recurrent pneumonia. Further imaging confirmed left pulmonary aplasia, associated with an aberrant right subclavian artery and vertebral anomaly. Case 3 is a full term neonate who developed excessive drooling of saliva and respiratory distress. Further imaging confirmed right pulmonary agenesis, associated with an atrial septal defect, patent ductus arteriosus and tracheo-oesophageal fistula. Pulmonary underdevelopment is classified into three types: hypoplasia, aplasia and agenesis. The majority of them have associated anomalies. This condition should be considered a differential diagnosis in paediatric patients with an opaque hemithorax on chest radiography.

The Role of De Novo Variants in Formation of Human Anorectal Malformations

Anorectal malformations (ARM) represent a rare birth defect of the hindgut that occur in approximately 1 in 3000 live births. Around 60% of ARM occur with associated anomalies including defined genetic syndromes and associations with chromosomal aberrations. The etiology of ARM is heterogeneous, with the individual environmental or genetic risk factors remaining unknown for the majority of cases. The occurrence of familial ARM and previous epidemiologic analysis suggest autosomal dominant inheritance in a substantial subset of ARM patients. The implicated mortality and reduced fecundity in patients with ARM would lead to allele loss. However, mutational de novo events among the affected individuals could compensate for the evolutionary pressure. With the implementation of exome sequencing, array-based molecular karyotyping and family-based rare variant analyses, the technologies are available to identify the respective factors. This review discusses the identification of disease-causing variants among individuals with ARM. It highlights the role of mutational de novo events.