Distal ureteral atresia – an embryological dilemma

Introduction: Distal ureteral atresia is a rare urinary tract anomaly generally associated with ipsilateral renal dysplasia and abnormalities such as multicystic dysplastic kidney, hydronephrosis and megaureter in the contralateral kidney. Despite burgeoning investigation modalities, definitive preoperative diagnosis of this condition is rarely feasible, also the embryological disarray of events that result in the development of this anomaly and the associated malformations is not clearly understood. Case presentation: We hereby report two cases of distal ureteral atresia and discuss the diversity in their presentations, diagnosis, atypical associations and management and review the possible embryological mal-development. Conclusion: Distal ureteral atresia with urogenital sinus as in Case 1 has not been documented so far and a plausible embryological explanation is deduced regarding its occurrence. The course of the affected kidney following timely and adequate relief of obstruction in Case 2 is depicted, highlighting the eventual management. Level of evidence: Not applicable

Is combined MDCT and echocardiography needed to guarantee accuracy in diagnosis and surgical planning of DORV and associated anomalies?

Background The term of Double-outlet right ventricle (DORV) is used to describe a spectrum of complex congenital cardiac malformations where anomalies of the ventriculo-arterial alignment are noted where both great arteries (pulmonary artery and aorta) originate completely or predominantly from the right ventricle. The purpose of this study is to evaluate the diagnostic accuracy of electrocardiography (ECG) gated multidetector computed tomography (MDCT) in preoperative assessment of DORV and its associated malformations, providing key anatomic parameters that affect surgical planning. Results A total of 50 patients diagnosed by echocardiography with DORV referred from our institute between September 2018 and August 2020 were enrolled. The location of the ventricular septal defect (VSD) to the great vessels and the alignment of the great vessels to each other as well as other associated malformations that affect the surgical planning were assessed by MDCT. The patients were retrospectively classified into subgroups according to the relative positions of the great arteries, the relationship between the great arteries and the VSD, and the presence of associated malformations according to the classification of Society of Thoracic Surgeons database. The diagnostic value of MDCT and transthoracic echocardiography (TTE) in evaluation of associated cardiac malformations apart from double outlet right ventricle was compared in 20 patients, whom surgeries were performed and surgical results were obtained. Fallot type of DORV was the most common clinical type which represented 48% of the patients in which the VSD is committed to the aorta. The second most common clinical type was Taussig–Bing anomaly which represented 30% of the patients and the VSD was seen committed to the pulmonary artery. The atrio-ventricular septal defect (AVSD)/uni-ventricular type represented 16% of the patients in the current study, with pulmonary and systemic venous anomalies, heterotaxy syndrome and situs anomalies were commonly associated. A total of 53 malformations apart from DORV were found in 20 patients whom performed surgical interventions. MDCT detected different vascular and situs anomalies in those patients with 100% sensitivity and 100% positive predictive value compared to 71.4% and 94% respectively in TTE. On the other hand, in our study TTE was superior to MDCT for detection of intracardiac anomalies with 100% sensitivity and 100% accuracy compared to 87.5% and 95% respectively in MDCT. Conclusions Our study suggested that ECG gated MDCT serves as a rapid, noninvasive imaging modality with good spatial resolution and provides excellent diagnostic image quality and has satisfactory diagnostic accuracy in the preoperative assessment of DORV. It is superior to echocardiography in providing a comprehensive mapping of the anatomy of complex anomalies especially that of extra-cardiac structures such as aorta, systemic veins, pulmonary veins, and pulmonary arteries. However, it can miss tiny intracardiac malformations. So combining the results of MDCT and echocardiography would be beneficial to guarantee the accuracy of diagnosis of DORV.

Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)

Objectives Female genital malformations may take the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and adnexa, the clinical picture of malformations may vary greatly. Depending on the extent of the malformation, organs of the urinary system or associated malformations may also be involved. Methods This S2k-guideline was developed by representative members from different medical specialties and professions as part of the guidelines program of the DGGG, SGGG and OEGGG. The recommendations and statements were developed using a structured consensus process with neutral moderation and voted on. Recommendations The guideline is the first comprehensive presentation of the symptoms, diagnosis and treatment options for female genital malformations. Additional chapters on classifications and transition were included.

The Quality of Life of Long Term Survivors of Patients with Biliary Atresia

Purpose: Advances in surgical techniques and perioperative care have improved patients' short-and mid-term postoperative outcomes with Biliary Atresia (BA). However, the long-term results of these patients have not been thoroughly investigated. This systematic review aims to determine the long-term outcomes and the patients' health-related Quality of life (HrQoL) with their native livers or liver transplantation. Methods: A systematic literature-based search for relevant cohorts was performed using Pubmed/Medline, Cochrane Library from its inception to August 2021. Original studies reporting on BA, Hepatoportoenterostomie, portoenterostomy, Kasai, Liver transplantation, Quality of life, or HrQoL were included. Pooled prevalence has been calculated for cholangitis, secondary liver transplantation, or associated malformations using MetaXL (version 5.3). Subgroup analysis on HrQoL followed surgical treatment after BA was calculated by using RevMan (version 5.4).Results: 12 articles were considered for data synthesis. Nine studies compared biliary atresia patients to an age-matched healthy reference group. 4/9 (n = 338) of these studies indicated lower scores for biliary atresia patients; 5/9 (n = 127) stated similar health status. A Forest plot analysis including all studies with total HrQoL showed a tendency of higher scores towards healthy controls (MD -0.79, 95% CI: -6.00-4.41). Comparing patients after Kasai Hepatoportoenterostomy with healthy controls demonstrated favorable outcomes for the control group (MD -3.22, 95% CI: -7.20-0.75) with no statistical significance (p = 0.11). The pooled estimation of the prevalence of cholangitis, secondary liver transplantation and associated malformations are 0.33 (95% CI: 0.06–0.66), 0.59 (95% CI: 0,42–0.75) and 0.13 (95% CI: 0,01–0.33).Conclusion: Biliary atresia patients have an overall high prevalence of progressive liver-related complications and risk of lower HrQoL compared to their healthy peers. Furthermore, those patients who received liver transplantation appear to have the same Quality of life as those living with their native livers. Targeted and evidence-based follow-up procedures and transitional care are essential to meet these patients' long-term care needs. Prospective and multicenter research das focuses on the attributes and predictors of the long-term prognosis of patients with biliary atresia are necessary.

Prevalence of and Risk Factors for Sagittal Posture Abnormalities in Children Born With Esophageal Atresia: A Prospective Cohort Study

Introduction: Scoliosis is a well-described complication of esophageal atresia (EA) caused by the associated spine malformations and/or thoracotomy. However, the sagittal posture abnormalities in patients with EA have not been described. The aim of this study was to evaluate the prevalence of and risk factors for sagittal posture abnormalities at the age of 6 years in patients operated on for EA.Methods: A prospective cohort of 123 patients with EA was examined by the same rehabilitation doctor at the time of a multidisciplinary visit scheduled at the age of 6 years. Children presenting with scoliosis (n = 4) or who missed the consultation (n = 33) were excluded. Univariate and multivariate logistic regression models with Firth's penalized-likelihood approach were used to identify risk factors associated with sagittal posture anomalies. Candidate risk factors included neonatal characteristics, associated malformations, atresia type, postoperative complications, psychomotor development retardation, orthopedic abnormalities, and neurological hypotonia.Results: The prevalence rates of sagittal posture abnormalities were 25.6% (n = 22; 95% CI, 16.7–36.1%). Multivariate analysis showed that minor orthopedic abnormalities (OR: 4.02, 95% CI: 1.29–13.43, P = 0.021), and VACTERL (OR: 3.35, 95% CI: 1.09–10.71, P = 0.042) were significant risk factors for sagittal posture abnormalities.Conclusion: This study shows that sagittal posture anomalies occur frequently in children operated on at birth for EA and are not directly linked to the surgical repair. These children should be screened and treated using postural physiotherapy, especially those with VACTERL and minor orthopedic abnormalities.

Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight

Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.

Occurrence of malformed calves in April - May 2021 indicates an unnoticed 2020 emergence of Schmallenberg virus in Denmark

During the European emergence of Schmallenberg virus (SBV) in 2011, examination of Culicoides spp. showed that SBV infected midges were present across Denmark. However, SBV associated malformations in ruminant species have not been reported in Denmark. In April 2021, seven calves with severe congenital generalized arthrogryposis and reduced body weight originating from a narrow region of the Jutlandic peninsula were submitted for examination. Analysis of fetal brain tissue for SBV viral RNA and pleural effusion for fetal anti-SBV antibodies identified SBV as the cause of the congenital syndrome. Backwards calculation from the calving dates indicated the occurrence of an unnoticed emergence of SBV in Denmark from early August 2020 and during the late summer and autumn. As SBV associated malformations may lead to dystocia urging for fetotomy or Cesarean section, veterinarians performing obstetric intervention are first line personnel in recognition of SBV emergence in domestic ruminants.

Differential diagnosis of syndromic craniosynostosis: a case series

Purpose Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis. Methods We identified in the period of 2000–2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures. Results Eight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations. Conclusion Second trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.

Value of preoperative computed tomography for meso-Rex bypass in children with extrahepatic portal vein obstruction

Background Extrahepatic portal vein obstruction (EHPVO) is the most important cause of hematemesis in children. Intrahepatic left portal vein and superior mesenteric vein anastomosis, also known as meso-Rex bypass (MRB), is becoming the gold standard treatment for EHPVO. We analyzed the value of preoperative computed tomography (CT) in determining whether MRB is feasible in children with EHPVO. Results We retrieved data on 76 children with EHPVO (50 male, 26 female; median age, 5.9 years) who underwent MRB (n = 68) or the Warren procedure (n = 8) from 2013 to 2019 and retrospectively analyzed their clinical and CT characteristics. The Rex recess was categorized into four subtypes (types 1–4) depending on its diameter in CT images. Of all 76 children, 7.9% had a history of umbilical catheterization and 1.3% had leukemia. Sixteen patients (20 lesions) had associated malformations. A total of 72.4% of Rex recesses could be measured by CT, and their mean diameter was 3.5 ± 1.8 mm (range 0.6–10.5 mm). A type 1, 2, 3, and 4 Rex recess was present in 9.2%, 53.9%, 11.8%, and 25.0% of patients, respectively. MRB could be performed in patients with types 1, 2, and 3, but those with type 4 required further evaluation. The sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy of CT were 100%, 83.8%, 42.1%, 100%, and 85.5%, respectively. Conclusions Among the four types of Rex recesses on CT angiography, types 1–3 allow for the performance of MRB.

Fetal neuroaxonal dystrophy: a further etiology of fetal akinesia

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities in these disorders. We report neuropathological data of a new form of NAD, characterized by a precocious prenatal onset, different from classical and conatal Infantile Neuroaxonal Dystrophy (INAD).We studied 5 fetuses examined after pregnancy termination and 2 term neonates deceased just after birth, 4/7 born from consanguineous parents. All subjects presented severe fetal akinesia sequence with microcephaly. In 4/7 cases, a molecular study was performed. In all cases, “spheroids” with typical immunohistochemical features were identified, with variable spreading in the central and peripheral nervous system. Basal ganglia, brainstem, cerebellum, and spinal cord involvement was constant. Associated CNS malformations, unusual in INAD, were associated including hydrocephalus (2), callosal agenesis/hypoplasia (2), olfactory agenesis (1), cortical (3) and retinal (1) anomalies. None of the cases demonstrated mutations in PLA2G6, found in INAD. The clinical and neuropathological features of these fetal cases are different from those of “classical” INAD. The absence of mutations in PLA2G6, in addition, suggests that the fetal NAD is a new entity, distinct from INAD, with different molecular basis. Associated malformations suggest a wide phenotypic spectrum and probable genetic heterogeneity. Finally, fetal NAD is an additional etiology of fetal akinesia.LEARNING OBJECTIVESThis presentation will enable the learner to:Diagnose this rare form of neuroaxonal dystrophy (NAD) occurring precociously, in the fetal life, as soon as the second trimester, different from the infantile form of NAD. 1.Describe the phenotypic spectrum of this fetal NAD; fetal akinesia sequence, microcephaly and various brain malformations, different from the “classical” and conatal forms of infantile neuroaxonal dystrophy.2.Consider this etiology in the diagnosis of fetal akinesia sequence.