Maternal first trimester serum levels of free-beta human chorionic gonadotrophin and male genital anomalies.

STUDY QUESTION: Are maternal first trimester levels of serum free-beta hCG associated with the development of hypospadias or undescended testis (UDT) in boys? SUMMARY ANSWER: Overall, first trimester maternal levels of serum free-beta hCG are not associated with hypospadias or UDT. However, elevated levels were found in severe phenotypes (proximal hypospadias and bilateral UDT) suggesting an altered pathway of hormonal release in early pregnancy. WHAT IS KNOWN ALREADY: Human chorionic gonadotrophin peaks in first trimester of pregnancy stimulating fetal testosterone production, which is key to normal male genital development. Endocrine-disrupting insults early in pregnancy have been associated with increased risk of common genital anomalies in males such as hypospadias and UDT. One plausible etiological pathway is altered release of hCG. STUDY DESIGN, SIZE, DURATION: We conducted a record-linkage study of two separate populations of women attending first trimester aneuploidy screening in two Australian states, New South Wales (NSW) and Western Australia (WA), in 2006-2009 and 2001-2003, respectively. PARTICIPANTS/MATERIALS, SETTING, METHODS: Included were women who gave birth to a singleton live born male infant. There were 12 099 boys from NSW and 10 518 from WA included, of whom 90 and 77 had hypospadias; and 107 and 109 UDT, respectively. Serum levels of free-beta hCG were ascertained from laboratory databases and combined with relevant birth outcomes and congenital anomalies via record linkage of laboratory, birth, congenital anomalies and hospital data. Median and quartile levels of gestational age specific free-beta hCG multiple of the median (MoM) were compared between affected and unaffected boys. Logistic regression was used to evaluate the association between levels of free-beta hCG MoM and hypospadias or UDT, stratified by suspected placental dysfunction and co-existing anomalies. Where relevant, pooled analysis was conducted. MAIN RESULTS AND THE ROLE OF CHANCE: There was no difference in median hCG levels amongst women with an infant with hypospadias (NSW = 0.88 MoM, P = 0.83; WA = 0.84 MoM, P = 0.76) or UDT (NSW = 0.89 MoM, P = 0.54; WA = 0.95 MoM, P = 0.95), compared with women with an unaffected boy (NSW = 0.92 MoM; WA = 0.88 MoM). Low (<25th centile) or high (>75th centile) hCG levels were not associated with hypospadias or UDT, nor when stratifying by suspected placental dysfunction and co-existing anomalies. However, there was a tendency towards high levels for severe types, although confidence intervals were wide. When combining NSW and WA results, high hCG MoM levels (>75th centile) were associated with increased risk of proximal hypospadias (odds ratio (OR) 4.34; 95% CI: 1.08-17.4) and bilateral UDT (OR 2.86; 95% CI: 1.02-8.03). LIMITATIONS, REASONS FOR CAUTION: There were only small numbers of proximal hypospadias and bilateral UDT in both cohorts and although we conducted pooled analyses, results reported on these should be interpreted with caution. Gestational age by ultrasound may have been inaccurately estimated in small and large for gestational age fetuses affecting hCG MoM calculation in those pregnancies. Despite the reliability of our datasets in identifying adverse pregnancy outcomes, we did not have pathology information to confirm tissue lesions in the placenta and therefore our composite outcome should be considered as a proxy for placental dysfunction. WIDER IMPLICATIONS OF THE FINDINGS: This is one of the largest population-based studies examining the association between maternal first trimester serum levels of free-beta hCG and genital anomalies-hypospadias and UDT; and the first to compare specific phenotypes by severity. Overall, our findings does not support the hypothesis that alteration in maternal hCG levels is associated with the development of male genital anomalies; however, high hCG free-beta levels found in severe types suggest different underlying etiology involving higher production and secretion of hCG. These findings require further exploration and replication. STUDY FUNDING/COMPETING INTERESTS: This work was funded by the National Health and Medical Research Council (NHMRC) grant APP1047263. N.N. is supported by a NHMRC Career Development Fellowship APP1067066. C.B. was supported by a NHMRC Principal Research Fellowship #634341. The funding agencies had no role in the design, analysis, interpretation or reporting of the findings. There are no competing interests. TRIAL REGISTRATION NUMBER: Not applicable.

Prune belly syndrome.

The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key publications involving PBS. This article discusses the evolution of our understanding of the pathogenesis and diagnosis of PBS, including its typical characteristics. We describe the management options available for bilateral intra-abdominal testes, the deficient abdominal wall, the dilated urinary system and examine the evidence base used to support the current approaches employed.

Language barriers and paediatric burns: does education make a difference?

A focused first aid education campaign was conducted in Sydney in 1996 for parents of children from Non-English speaking backgrounds (NESB) to improve their knowledge of correct burns first aid treatment (BFAT). This study sought to determine the correlation, if any, between the reported beneficial results of this education campaign and the subsequent severity of burns in children. A retrospective review of all patients admitted to the state Burns Unit at The Children's Hospital at Westmead (CHW) over a 7-year period from January 1995 to December 2001 was performed. Number of patients, language spoken at home (English, Chinese, Arabic, Vietnamese or Other) and the rate of burns requiring skin grafting was assessed. A total of 1,283 patients were admitted over 7 years. Skin grafting was required in 544 (42%). NESB children required grafting in up to 88% of cases prior to the first aid education campaign, reducing to a minimum of 37% at 1 year and 65% at 5 years following the campaign. This compared to 40 and 36%, respectively, for English speaking children. While the initial decrease in grafting requirements may reflect an effective education campaign, the subsequent rise suggests the need for reinforcement.

Laser Doppler imaging of paediatric burns: burn wound outcome can be predicted independent of clinical examination.

This study sought to assess the validity of independent, blinded reporting of Laser Doppler Imaging (LDI) prediction of burn wound outcome in children. Two experienced paediatric burn consultants were invited to report on LDI scans performed routinely within 3 days of burn. They were provided with the LDI flux image, a low-resolution colour digital photograph of the burnt area and a basic history. Report predictions were correlated with outcome. Reports were compiled on 50 scans performed on 31 patients at a mean of 54h post burn. Of the 100 reports generated, mean correlation with outcome was 97%. If the LDI predicted a deep burn, it was always correct. Non-correlations were due to a number of factors including inadequate scanning of the affected area, excessive movement and residual wound debris. Accurate prediction of burn wound outcome could be made via the standard information generated by LDI and appeared more reliable than clinical prediction. The correlation improved with increasing experience with LDI.

Sports-related pneumothorax in children.

Pneumothorax after blunt chest trauma in the absence of rib fractures is uncommon and has only rarely been reported as a result of sporting activity. Presentation may vary from an apparently normal physical examination in the presence of a small pneumothorax to hemodynamic compromise in the presence of a tension pneumothorax. High fitness levels in athletes may result in failure to recognize symptoms and delay diagnosis, potentially increasing morbidity. It is imperative for the emergency physician to exclude pneumothorax in children who present with chest pain after blunt chest trauma from sports injury. We report our experience with and the management of 3 patients with pneumothoraces.

Laser Doppler imaging prediction of burn wound outcome in children.

The ability of laser Doppler imaging (LDI) to evaluate burn depth in children was investigated. Fifty-seven patients were prospectively studied over a 10-month period. Each patient was clinically assessed, photographed and independently scanned between 36 and 72 h of the burn. Patients were reviewed until wound healing had occurred within 12 days or skin grafting had been performed. The median age was 1 year and 10 months (range 5 months to 15 years and 8 months). The median body surface area burnt was 7.0% (range 0.5-30%). In 30 patients, the burn did not heal within 12 days, 17 of which were grafted. Clinical examination correctly determined 66% of deep partial or full thickness burns between 36 and 72 h of injury compared to 90% using LDI. The LDI was also more specific; correctly diagnosing 96% of superficial partial thickness burns as opposed to 71% on clinical examination. Moderate degrees of movement did not appear to limit the accuracy of the scan.

Laser doppler line scan burn imager (LDLS-BI): sideways move or a step ahead?

OBJECTIVE: To assess the accuracy of a Laser Doppler Line Scanner (LDLS) in predicting burn wound healing in children compared to conventional Laser Doppler Imaging (LDI). METHODS: A prospective study comparing a LDLS with a conventional LDI to assess burn wound Healing Potential (HP) was performed in 50 paediatric patients presenting to our institution between February 2010 and March 2011, as part of a multi-centre, international trial. Inclusion criteria were superficial to deep dermal burns that were able to be scanned between 42 h and 5 days of the burn. RESULTS: Of the 50 patients enrolled, one was excluded from subsequent analysis as they were unable to present for wound reviews at 14 and 21 days. Ninety scans were performed of 59 burn wounds in the remaining 49 patients. The mean age was 4 years and 9 months (range 8 months to 16 years) and the mean Total Body Surface Area burnt was 8.3% (range 0.1-15%). The most common mechanism of injury was a scald, followed by contact and flame burns. A limb was the most common site of injury. Overall accuracy of the scanners was 94.5% (LDI) and 95% (LDLS), with accuracy lowest for indeterminate burns that healed within 14-21 days. CONCLUSION: The LDLS was found to be as accurate as the LDI in predicting burn wound HP in children. Whilst the LDLS scan resolution was lower, with more scans of larger burns required, its smaller size and greater scan speed proved valuable in children.

Instant hot noodles: do they need to burn?

BACKGROUND: Scalds and contact burns in children may occur as the result of spillage of hot food and drinks, including instant hot noodles. This study sought to determine the frequency of noodle burns in children and investigate the thermal properties of instant hot noodles. METHODS: Data on instant hot noodle burns in children were retrieved from the New South Wales Severe Burn Injury Database between 2005 and 2010. Five widely available brands of instant hot noodles, including three cup and two packet varieties, were prepared following the manufacturer's instructions. For each preparation the initial temperature after cooking was recorded, together with the time to cool to 50°C. RESULTS: 291 children sustained instant hot noodle burns over the 6 year study period, representing 5.4% of all children referred to our burns unit. Over a third received inadequate first aid. Cup noodles cooked with boiling water reached the highest temperature of over 80°C and took the longest time to cool to 50°C: on average 52.3 min. Cup noodles in smaller, narrower containers achieved higher post-cooking temperatures compared to noodles in wider, bowel shaped containers. Packet noodles cooked in a Microwave oven attained lower peak temperatures and shorter cooling times compared to cup noodles. CONCLUSIONS: Although relatively uncommon in children, instant hot noodle burns often received inadequate first aid. When cooked according to manufacturer's instructions, noodles generally exceeded temperatures sufficient to cause a burn. Consumers and parents need to be aware of the risks of burn when preparing these foods.

Ureteral triplication: a rare anomaly with a variety of presentations.

Ureteral triplication remains a very rare congenital malformation of the urinary tract with a wide spectrum of presentation. The sporadic nature of this condition and its association with other anomalies makes evidence-based management difficult. We report two cases of triplication in association with the VACTERL syndrome, one developing pelvi-ureteric junction obstruction and the other vesico-ureteric reflux.

Investigation and management of suspected urachal anomalies in children.

Urachal anomalies occur infrequently, but may be associated with morbidity, particularly when the diagnosis has been delayed. We retrospectively reviewed our institution's experience over a 10-year and 7-month period in the investigation and management of suspected urachal anomalies. There were 25 children between November 1995 and June 2006, who presented with a suspected urachal anomaly. The mean age was 12 months (range 3 days to 13 years); 14 were male. Presentations included granulomatous polyp (16), umbilical discharge (4), umbilical sepsis (2) and abdominal pain (2). One case was diagnosed incidentally during a renal ultrasound scan (US). The main investigative tool was US (10), followed by micturating cystourethrogram (2). Of the 25 children, 12 had a patent urachus confirmed by subsequent further imaging or surgery. Our review suggests that whilst clinical examination remains important in the management of a child presenting with a possible urachal pathology, in 36% of the cases the correct diagnosis was only made with further radiological imaging or at operation. Surgical excision was effective with no morbidity or mortality.

Somatic malignant transformation in a sacrococcygeal teratoma in a child and the use of F18FDG PET imaging.

A 6-year-old female presented with a subcutaneous sacral mass. Biopsy revealed an adenocarcinoma most likely arising from a sacrococcygeal teratoma (SCT). CT imaging revealed a massive tumour consistent with SCT. F(18)FDG Positron Emission Tomography (PET) scan confirmed marked metabolic activity in the tumour mass and regional lymph node involvement. After chemotherapy repeat CT and PET studies revealed a poor response but no evidence of peritoneal or distant metastases. Radical abdomino-pelvic and gluteal surgery was performed with removal of the entire tumour confirmed as a moderately differentiated adenocarcinoma arising in an immature teratoma. Follow up imaging including PET scanning 5 months after her surgery revealed widespread peritoneal, hepatic and pulmonary metastases. Somatic malignant transformation of an SCT in a child of this age has not been previously reported.

Management of urethrocutaneous fistula following hypospadias repair.

Urethrocutaneous fistulas complicating hypospadias repair appear a common problem. There appears less data in the literature regarding the risk and management of recurrent fistulas. A retrospective review of urethrocutaneous fistulas complicating hypospadias repair was performed to evaluate their aetiology, management and outcome. Between 1993 and 2003, 1,753 patients had a hypospadias repair at our institution. Overall 123 (7%) boys developed a fistula, although detailed information was available on 117 patients only. Median age was 3.5 years at the time of fistula repair; 13% had anterior, 57% had middle and 30% had posterior hypospadias. The most common primary surgical procedure was a Durham Smith two-stage repair in 29% (n = 34), followed by a Tubularised Incised Plate urethroplasty in 19% (n = 22) and an Onlay in 14% (n = 16). Thirty-one (27%) patients developed a recurrent fistula, 9 (29%) of which recurred following a second repair. None recurred after a third repair. The risk of a recurrent fistula after an initial distal fistula repair was 12.5% and after a posterior fistula was 62% (chi(2) = 15.4, P = 0.001). Use of a stent, suture type, numbers of fistula and closure attempts did not influence the recurrence rate. Undiagnosed distal obstruction was thought to be related to 27 of 117 first fistula repairs (23%) and 4 of 31 second fistula repairs (13%). The risk of recurrent urethrocutaneous fistula was increased in those boys with a posterior fistula, following a simple repair or when there was evidence of distal urethral obstruction.

Long-term outcome of anorectal malformations: the patient perspective.

To assess the long-term outcome of surgery for anorectal malformations (ARM) from the patient's perspective. One hundred and sixty seven children were operated for ARM between 1982 and 2000. Disease impact questionnaires to assess both clinical and psychological outcomes were sent to 137 eligible families. Statistical analysis was performed using SPSS version 11.5. The response rate was 61% (n=84). Sixty six percent had soiling. There was no significant difference in the incidence of soiling between genders or between the younger child and adolescent. Soiling was significantly increased in high (86%) and intermediate (79%) compared to low (43%) malformation (P=0.001). Constipation was seen in 62% and abdominal pain in 49%, with no significant difference between malformation levels. Overall, 71% had associated anomalies. Although 44% had a documented urological abnormality, clinical significant problems were seen in only 30%. Eighty percent of the children had one or more behavioural problems and 15% expressed suicidal thoughts. ARM had a negative impact on the social life of the child in 52% and on family functioning in 50%. Soiling (P=0.000), presence of associated anomalies (P=0.001), constipation (P=0.005), level of ARM (P=0.015) and abdominal pain (P=0.039) correlated significantly with psychosocial morbidity. Despite these findings, 62% of adolescents and 71% of children below 12 years with their parents reported above average global hopefulness score, remaining hopeful for the future. Children with ARM have ongoing physical and social morbidity, indicating the need for continuing multidisciplinary review and support to optimise their quality of life.

Paediatric trauma.

Trauma remains the most common cause of death in childhood after the first year of life. It accounts for considerable morbidity that may extend into adult life at great cost to the community. Despite the scale of the disease, paediatric trauma and injury prevention research attract little funding. International data indicate that children in Australia and New Zealand would benefit from improved injury prevention strategies and the introduction of a more formalized paediatric trauma system. Such a system would need to take account of Australasian geographical and population distribution characteristics, which mandate local provision of expert and immediate care in rural areas. There would appear to be economic and clinical arguments for the introduction of an ambulance trauma bypass system for stable but severely injured children in metropolitan areas with a paediatric trauma centre.

Perforating small bowel injuries in children: influence of time to operation on outcome.

The purpose of this study was to determine whether delay in the diagnosis of small bowel injury (SBI) affected the outcome of paediatric patients who required surgical interventions in the treatment of small bowel injuries. A retrospective chart review was performed on children with traumatic SBI requiring surgical management between January 2000 and December 2002. Diagnostic interval was defined as the time from presentation to operative treatment and delay was an interval of greater than 8 h. Thirteen patients were admitted for operative treatment of SBI. Nine cases were the result of motor vehicle trauma. The mean diagnostic interval for all patients was 9.1 h+/-7.4 h (range 0.6 h-22.5 h). Six patients had a diagnostic delay with a mean diagnostic interval of 15.5 h+/-5.5 h. There was no statistically significant difference found between the prompt and delayed diagnosis groups in terms of complications or length of hospital stay. Our finding of no difference between the prompt and delayed diagnosis groups and a diagnostic delay no longer than 22.5 h may suggest that our local methods of diagnosis and treatment assist in the prevention of unnecessary complications and death.

Double bubble, double trouble.

Duodenal atresia (DA) is not uncommon, either as an isolated anomaly or associated with trisomy 21, malrotation, or cardiac anomalies. It may be diagnosed on antenatal ultrasound by a "double-bubble" sign, which typically persists after birth on a plain abdominal radiograph. DA as a familial association is rare but has been reported with or without other associated anomalies. We report DA in two siblings of nonconsanguineous parents, one case occurring with an annular pancreas in association with gestational diabetes. These two cases suggest possible genetic and environmental components in the aetiology of this anomaly.

Blunt traumatic diaphragmatic injuries in children.

Diaphragmatic injuries following blunt trauma are rare. From January 1988 to February 2002 eight children were treated at the Children's Hospital at Westmead for diaphragmatic injury. Male to female ration was 5:3. Motor vehicle crashes were the most common cause. The injury was left-sided in four, right sided in three and central in one. Initial plain radiograph and computerised tomography detected the injury in 50% of cases. Laparotomy, contrast study and autopsy identified the rupture in one each. Associated injuries were present in all cases. Seven children had laparotomy and repair of the diaphragmatic rupture. The commonest site of rupture was posterolateral (37.5%). Diagnosis was delayed in two cases. There were two deaths (25% mortality) in the series, both due to associated injuries. Although rare, diaphragmatic rupture must be considered in any child with thoracoabdominal injury. Diagnosis may be difficult and require extensive investigation. Mortality usually results from associated injuries.

Diagnostic accuracy of surgeon-performed focused abdominal sonography (FAST) in blunt paediatric trauma.

AIM: To study the diagnostic accuracy and clinical efficacy of surgeon-performed focused abdominal sonography (FAST) in paediatric blunt abdominal trauma (BAT). MATERIALS AND METHOD: This was a prospective, single blinded study conducted at The Children's Hospital at Westmead Sydney (CHW). All patients with BAT that justified a trauma call activated on presentation to the Emergency Department (ED) had a FAST performed by the Trauma Fellow. The attending surgical team was blinded to the result of the FAST. An independent radiologist reviewed the FAST pictures, and the findings were compared with computerised tomography (CT), ultrasound (US), laparotomy and the clinical outcome of the patient. Sensitivity, specificity and predictive values were calculated. RESULTS: A total of 85 patients (39 M; 26 F) were enrolled in the study between February 2002 and January 2003. The age ranged between 4 months and 16 years. The mean Injury Severity Score (ISS) was 6 (range 1-38). FAST was performed in a mean time of 3 min. Inter-rater agreement was 96%. FAST was positive in nine as confirmed by a CT scan of the abdomen. Three patients underwent laparotomy, two for bowel injuries and one for a Grade III liver laceration. Of the remaining 76, 19 had a CT, which showed evidence of intra-abdominal injury in seven patients. There were two false negative studies resulting in a sensitivity of 81%, specificity of 100%, negative predictive value of 97%, positive predictive value of 100% and an accuracy of 97%. CONCLUSIONS: Surgeon-performed FAST for BAT was safe and accurate with a high specificity. It would seem a potentially valuable tool in the evaluation of paediatric blunt trauma victims for free fluid within the peritoneal cavity.