Influence of foetal position on the degree of isolated antenatal hydronephrosis.

BACKGROUNDS: The effect of foetal position on the degree of antenatal hydronephrosis (ANH) is unknown. We hypothesized that foetal position is an important contextual factor in ANH, with consequences on prenatal counselling and postnatal management. The current study aimed to investigate the effect of foetal position on the degree of ANH. METHODS: A retrospective study was carried out on consecutive pregnancies with isolated ANH over a 10-year period. Gestational age, foetal presentation (cephalic vs. breech), and degree of ANH (as measured by the AP diameter) were retrieved. Foetuses with other ultrasound findings of the renal tract (renal parenchymal abnormality, ureteric dilatation, or bladder abnormalities) were excluded. Logistic regression analysis was conducted to examine the relationship between the anterior-posterior diameter (APD) and the mode of presentation (cephalic or breech). A P-value of <0.05 was considered significant. RESULTS: Initially 745 scans were identified, with 436 included in the final analysis. Overall, there was an association between foetal presentation and APD regardless of trimester, with cephalic presentations having a greater APD (OR 1.07, 95% CI 1.02-1.11, P = 0.04). CONCLUSION: Cephalic presentations are associated with a significantly greater APD indicating that foetal position should be considered when stratifying ANH. Furthermore, foetal position may be a contributing factor in the mechanism of 'physiological' hydronephrosis.

Effect of the COVID-19 induced phase of massive telehealth uptake on end-user satisfaction.

BACKGROUND: COVID-19 has resulted in a massive increase in telehealth utilisation. AIMS: To determine the user and clinician satisfaction during this period and compare to a pre-COVID-19 cohort. METHODS: A prospectively collected voluntary questionnaire following the telehealth appointment at a tertiary-level hospital with all adult and paediatric-based specialities was conducted over two time periods: COVID-19 (16 March 2020 to 15 April 2020) and pre-COVID-19 (1 January 2019 to 31 December 2019). There were four groups of participants: patients; parents; adult-based clinicians; and paediatric-based clinicians. The outcomes assessed included perceived standard of care, willingness for repeat telehealth consultations, and patient and parental perceptions of safety. RESULTS: Five thousand and thirty-three telehealth consultations occurred in the COVID-19 period with 1757 questionnaires completed, compared to 1917 consultations with 271 questionnaires completed in the pre-COVID-19 period. Clinicians were more likely to have previously used telehealth in both time periods than end-users. In COVID-19, 1240 actual onsite hospital outpatients' visits were prevented. All groups reported a good overall impression of the telehealth quality; patients/parents scored higher compared to clinicians: 3.6/4 versus 3.3/4, P = 0.02 (pre-COVID-19) and 3.3/4 versus 2.8/4, P = 0.001 (COVID-19). The majority of patients and parents (90%, 1379/1528) felt safer by having a telehealth appointment compared to a face-to-face appointment in the COVID-19 pandemic. All participant groups reported an overall good standard of care, good levels of engagement and were strongly willing to use telehealth again in both of the study time periods. Patients and parents consistently rated higher than clinicians. CONCLUSIONS: During a rapid increase in its utilisation and scope due to the COVID-19 pandemic, telehealth was generally well accepted by patients, parents and clinicians, which was consistent with pre-COVID-19 experiences.

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.

BACKGROUND: GATA-binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to influence transcription of genes in a number of developmental systems. Recent evidence has also shown these genes play a role in gonadal sexual differentiation in humans. Previously we identified four variants in GATA4 and an unexpectedly large number of variants in ZFPM2 in a cohort of individuals with 46,XY Differences/Disorders of Sex Development (DSD) (Eggers et al, Genome Biology, 2016; 17: 243). METHOD: Here, we review variant curation and test the functional activity of GATA4 and ZFPM2 variants. We assess variant transcriptional activity on gonadal specific promoters (Sox9 and AMH) and variant protein-protein interactions. RESULTS: Our findings support that the majority of GATA4 and ZFPM2 variants we identified are benign in their contribution to 46,XY DSD. Indeed, only one variant, in the conserved N-terminal zinc finger of GATA4, was considered pathogenic, with functional analysis confirming differences in its ability to regulate Sox9 and AMH and in protein interaction with ZFPM2. CONCLUSIONS: Our study helps define the genetic factors contributing to 46,XY DSD and suggests that the majority of variants we identified in GATA4 and ZFPM2/FOG2 are not causative.

Clinical Impact of the Introduction of Pediatric Intussusception Air Enema Reduction Technology in a Low- to Middle-Income Country Using Low-Cost Simulation-Based Medical Education.

INTRODUCTION: Pediatric intussusception is a common cause of bowel obstruction in infants. Air enema (AE) reduction is routine first-line management in many countries; however, there is a high rate of operative intervention in low- and middle-income countries. The aims of the study were to use simulation-based medical education with an intussusception simulator to introduce AE reduction to Myanmar and to assess its effect on provider behaviors and the resulting clinical care. METHODS: Clinical evaluation was conducted by comparing clinical outcomes data for children with intussusception 12 months before implementation with that from 12 months subsequent to implementation. These included the following: AE success rates, recurrence rates, length of stay, intestinal resection, and operative intervention rates. An educational workshop was developed that used a low-cost mannequin to facilitate practice at the reduction of intussusception using AE. Curriculum evaluation was performed through 5-point rating scale self-assessment in several domains. Data analysis was performed with Mann-Whitney U test, Student t test, or Wilcoxon signed-ranks test as appropriate; a P value of less than 0.05 was considered to be significant. RESULTS: After implementation, there was a significant reduction in the overall operative intervention rates [82.5% (85/103) vs. 58.7% (44/75), P = 0.006]. Intestinal resection rates increased [15.3% (13/85) vs. 35.9% (14/39), P = 0.02]. The success rate with attempted AE reduction was 94.4% (34/36), with a recurrence rate of 5.6% (2/36). The simulation-based medical education workshop was completed by 25 local participants. There was a significant difference in the confidence of performing (1.9 vs. 3.6, P ≤ 0.0001) or assisting (2.8 vs. 3.7, P = 0.018) an AE reduction before and after the workshop. CONCLUSIONS: Simulation-based educational techniques can be successfully applied in a low- and middle-income country to facilitate the safe introduction of new equipment and techniques with significant beneficial impact on provider behaviors and the resulting clinical care.

The Use of Tissue Glue for Circumcision in Children: Systematic Review and Meta-analysis.

OBJECTIVE: To evaluate the efficacy of tissue glue in pediatric circumcision. MATERIALS AND METHODS: A systematic review and meta-analysis of the English literature (1997-2017) was conducted according to the Preferred Reporting Items for Systematic Review and Meta-analyses (PRISMA) statement on children who underwent circumcision with tissue glue. Meta-analysis was conducted using RevMan 5.3, Comprehensive Meta-Analysis 2, and MedCalc 18. P values <.05 were considered significant. RESULTS: The search returned 15 studies for a total of 4567 circumcisions, of which 3045 (66%) were performed with tissue glue. The systematic review indicated that overall complication rates were 4.3% (tissue glue) and 5.9% (sutures). The use of tissue glue was associated with reduced postoperative pain, better cosmetic results, and reduced cost. Meta-analysis showed that there was no difference between the incidence of total postoperative complications (relative risk [RR] 0.86 [95% confidence interval {CI}: 0.62-1.19], P = .36) and wound infection and dehiscence between the 2 groups (RR 0.95 [95% CI: 0.59-1.56], P = .85). Postoperative bleeding and hematoma formation were reduced with the use of tissue glue (RR 0.55 [95% CI: 0.32-0.95], P = .03). Tissue glue also significantly shorten the operative time (mean difference -0.22 [95% CI: -0.39 to -0.05], P = .01). CONCLUSION: The incidence of postoperative bleeding and hematoma formation in pediatric circumcision is reduced with the use of tissue glue. Tissue glue has reduced operative time; furthermore, it might be associated with reduced postoperative pain, less overall cost, and superior cosmetic results.

Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review.

There is no consensus in the literature about the necessity for excision of testicular remnants in the context of surgery for an impalpable testis and testicular regression syndrome (TRS). The incidence of germ cells (GCs) within these nubbins varies between 0 and 16% in previously published series. There is a hypothetical potential future malignancy risk, although there has been only one previously described isolated report of intratubular germ-cell neoplasia. Our aim was to ascertain an accurate incidence of GCs and seminiferous tubules (SNTs) within excised nubbins and hence guide evidence-based practice. The systematic review protocol was designed according to the PRISMA guidelines, and subsequently published by the PROSPERO database after review (CRD42013006034). The primary outcome measure was the incidence of GCs and the secondary outcome was the incidence of SNTs. The comprehensive systematic review included articles published between 1980 and 2016 in all the relevant databases using specific search parameters and terms. Strict inclusion and exclusion criteria were ultilised to identify articles relevant to the review questions. Twenty-nine paediatric studies with a total of 1455 specimens were included in the systematic review. The mean age of the patients undergoing nubbin resection was 33 months and the TRS specimen was more commonly excised from the left (68%). The incidence of SNTs was 10.7% (156/1455) and the incidence of GCs, 5.3% (77/1455). Histological analysis excluding the presence of either SNTs or GCs was consistent with TRS, fibrosis, calcification or haemosiderin deposits. There is limited evidence on subset analysis that GCs and SNTs may persist with increasing patient age. This systematic review has identified that 1 in 20 of resected testicular remnants has viable GCs and 1 in 10 has SNTs present. There is insufficiently strong evidence for the persistence of GCs and SNTs with time or future malignant potential. Intra-abdominal TRS specimens may contain more elements and, therefore, require excision, although this is based on limited evidence. However, there is no available strong evidence to determine that a TRS specimen requires routine excision in an inguinal or scrotal position.

Leydig cell hyperplasia in children: Case series and review.

INTRODUCTION: Leydig cell hyperplasia (LCH) and Leydig cell tumours (LCTs) in children are rare, typically presenting with precocious puberty. Previously, orchidectomy was the routine management; however, more recently, testis-sparing surgery has been performed with good results. We present a series of unusual presentations of LCH, raising new management questions, and a review of the literature regarding LCH and LCT in children. STUDY DESIGN: We performed a literature search using Ovid Medline, PubMed, and Google Scholar, producing 456 articles. We reviewed all case reports and series containing paediatric patients, and relevant review articles. RESULTS: We report three cases of LCH, two of which were incidental findings. All three cases underwent testis-sparing surgery. In the literature there were seven cases of LCH and 101 cases of LCT in prepubertal children. The most common presentation was with precocious puberty. Three cases of LCH and more than two-thirds of LCTs were managed with orchidectomy and overall only 11% of the cases underwent testes-sparing surgery (24% did not specify operative management). There were no reports of recurrence or malignancy. DISCUSSION: Our case series presents three new clinical presentations of LCH that have not previously been reported in the literature: one of incomplete precocious puberty and two with incidental findings on ultrasound in asymptomatic children. Historically, children with the classic presentation of precocious puberty and a testicular lesion have been managed with orchidectomy. Nowadays, many clinicians advocate testes-sparing surgery given there have been no cases of malignancy. In children with no clinical or biochemical signs of precocious puberty, lesions identified on ultrasound can be safely monitored for a period of time. However, if the lesion does not regress, excisional biopsy is recommended to establish the diagnosis, ideally before the onset of puberty. CONCLUSION: Leydig cell hyperplasia and tumours in pre-pubertal children are benign. Testes-sparing surgery with regular follow-up appears to be safe management.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD). Our targeted gene panel compares favorably with other sequencing platforms. We found a total of 28 diagnostic genes that are implicated in DSD, highlighting the genetic spectrum of this disorder. Sequencing revealed 93 previously unreported DSD gene variants. Overall, we identified a likely genetic diagnosis in 43% of patients with 46,XY DSD. In patients with 46,XY disorders of androgen synthesis and action the genetic diagnosis rate reached 60%. Surprisingly, little difference in diagnostic rate was observed between singletons and trios. In many cases our findings are informative as to the likely cause of the DSD, which will facilitate clinical management. CONCLUSIONS: Our massively parallel sequencing targeted DSD gene panel represents an economical means of improving the genetic diagnostic capability for patients affected by DSD. Implementation of this panel in a large cohort of patients has expanded our understanding of the underlying genetic etiology of DSD. The inclusion of research candidate genes also provides an invaluable resource for future identification of novel genes.

Stepwise approach to laparoscopic appendicectomy in children.

Traditionally, three ports are used in laparoscopic appendicectomy. However to reduce surgical incision and cost, it is feasible to remove the appendix using fewer ports. In this study, we compared the efficacy of stepwise and standard approach in laparoscopic appendicectomies in children. Between August 2008 and September 2010, 378 children with appendicitis were allotted to either the stepwise or standard laparoscopy group depending on the operating surgeon's preference. In the former group, an operating telescope was inserted first. The number of ports used was based on the pathology (stepwise approach). In the latter group, three ports were inserted in all patients (standard approach). The two groups were similar. In the stepwise group, we performed 95 single port (utilising a scope with an instrument channel), 37 two ports and 13 three ports appendicectomies. In the stepwise group, operating time was shorter (not yet statistically significant) and it reduced the port numbers by more than 50 %. The stepwise approach provides an evidence-based management of appendicitis with comparable outcomes. This procedure further reduces incision trauma, operating times and the cost of operation. However, the reduction of post-operative analgesic requirement needs further study.

Accuracy of inter-hospital paediatric appendicitis referrals.

OBJECTIVE: Appendicitis is the most common paediatric surgical emergency. In our institution, the majority of inter-hospital transfers are for suspected appendicitis. We undertook an audit to assess the accuracy of the provisional diagnosis of the transferred cases. METHODS: Retrospective electronic data of a tertiary referral centre and a single referring regional hospital were collected between January 2009 and December 2010. Primary outcome of surgery, inpatient observation or discharge was assessed. The final appendix pathology results were examined. RESULTS: There were 187 paediatric surgical transfers (49% by ambulance) that were provisionally diagnosed as appendicitis. Of the 187 patients (M : F = 102 : 85, a median age of 11), 70% were admitted, 43% underwent appendicectomy, and only 40% had pathologically proven appendicitis. CONCLUSIONS: Of the surgical referrals for appendicectomy, 60% did not have appendicitis. An improved assessment protocol is required to reduce the margin of diagnostic error and transfer cost, while maintaining clinical safety.

Trend of severe abdominal injuries from bicycle accidents in children: a preventable condition.

AIM: Bicycle riding is a common recreational and sport activity enjoyed by many children. Bicycle accidents are a common cause of abdominal injuries. We aim to establish the trend and the associated risk factor(s) of bicycle-related abdominal injuries. METHODS: A retrospective review of all children admitted following bicycle accidents to a single tertiary referral centre was carried out over an approximately 5-year period. The data were tabulated and regression analyses were carried out. RESULTS: Over the study period, 196 children were admitted into the Emergency Department. Abdominal injuries (16%) were the third largest group after orthopaedic and head injuries. There were 19 major visceral injuries, seven of whom underwent major surgeries. Forty-two percent (8/19) of these major injuries were related to stunts. Over the same period, no child with head injury required any surgical intervention. In addition, there was a definite trend that abdominal injuries were accounting for greater percentage of bicycle-related injuries in children. CONCLUSIONS: Severe intra-abdominal trauma following bicycle injuries appears to be seen more often in adolescent males, especially when related to BMX stunts. These injuries have surpassed head injuries as the prime cause of morbidity from bicycle accidents. These injuries are largely preventable.