Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis.

There are limited MRI studies of craniofacial and velopharyngeal features in children with 22q11.2 deletion syndrome (22q11.2DS) and to date, none have explored the potential relationship between these features and the speech phenotype. The purpose of this study was to examine the relationship between craniofacial and related velopharyngeal structures in children with 22q11.2DS and to assess their correlation to resonance features using an unsedated MRI protocol. Fifteen children with 22q11.2DS and 15 age- and sex-matched controls with normal velopharyngeal anatomy (ages 4-12 years) successfully completed the study. Analysis of covariance was used to compare differences between the experimental (22q11.2DS) and control (children with normal anatomy) groups. Correlation analyses and regression models were also utilized. The 22q11.2DS group demonstrated significantly shorter nasion-to-sella, sella-to-basion, and basion-to-opisthion distances. The anterior cranial base angle was significantly more obtuse. The levator veli palatini (levator) muscle was significantly thinner and shorter, with an obtuse angle of origin in the 22q11.2DS group. Levator length was significantly correlated with the sella-to-basion measure and hypernasality was correlated with levator origin-to-origin distance. Preliminary results from this study indicate a significant association between hypernasality and levator origin-to-origin distance. Findings from the present study, provide an insight into the pathophysiology of velopharyngeal dysfunction related to this clinically complex population.

Radiology of anorectal malformations: What does the surgeon need to know?

Imaging is extremely important throughout all phases of care provided to children with anorectal malformations (ARM). A preoperative determination of the patient specific malformation will help establish the operative plan. Moreover, the majority of ARM patients will have an associated anomaly that will require imaging workup for full understanding of those abnormalities prior to addressing the ARM. The complexity of ARM care will mandate continued imaging throughout the post-operative period even in those with straight forward malformations.

Measure twice and cut once: Comparing endoscopy and 3D cloacagram for the common channel and urethral measurements in patients with cloacal malformations.

INTRODUCTION: Precise and accurate measurement of the common channel and urethra is a critical determinant prior to the repair of cloacal malformations. Endoscopy and 3D reconstruction cloacagram are two common modalities utilized to help plan the surgical approach, however the consistency between these methods is unknown. METHODS: Common channel and urethral lengths obtained by endoscopy and 3D cloacagram of cloaca patients at six pediatric colorectal centers were compared. Data are given as mean (range). RESULTS: 72 patients were included in the study. Common channel measurements determined by 3D cloacagram and endoscopy were equal in 7 cases (10%). Endoscopic measurements of the common channel were longer than 3D cloacagram in 20 (28%) cases and shorter in the remaining 44 (62%) cases. The absolute difference between measurements of the common channel was 7.2 mm (0-2.4 cm). Urethral measurements by both modalities were equal in 8 cases (12%). Endoscopic measurement of the urethra was longer than that by 3D cloacagram in 20 (31%) patients and shorter in 37 (57%) of cases. The absolute difference between measurements of the urethra was 5.1 mm (0-2.0 cm). The reconstruction (e.g. TUM or urogenital separation) that would be performed according to measurements determined by 3D cloacagram and endoscopic measurements differed in 13/62 (21%) patients with each structure identified and common channel measurements of >1 cm. CONCLUSION: Significant variation exists in the measurements of the common channel and urethra in patients with cloacal malformations as determined by endoscopy and 3D cloacagram. This variation should be considered as these measurements influence the decision to perform either a TUM or urogenital separation. Based on these findings, 3D cloacagram should be performed in all patients prior to cloaca repair to prevent mischaracterization of the malformation. LEVEL OF EVIDENCE: Level IV.

A call to ARMs: Accurate identification of the anatomy of the rectourethral fistula in anorectal malformations.

Recto-urethral fistulae are the most common finding in males born with an anorectal malformation (ARM). A high pressure distal colostogram is an important tool in visualizing the fistula, although the precise level at which the fistula communicates with the urethra may be difficult to interpret and is not reported in a uniform manner. This anatomy affects the surgical plan; determining the likelihood that the rectum is reachable via a posterior sagittal incision or better approached through the abdomen via laparoscopy or laparotomy helps counsel families and stratifies diagnoses for outcomes work. Herein we present a figure used at our Center to assist with correlating findings on the distal colostogram with the anatomic level of the recto-urethral fistula in males with anorectal malformations.

The use of rotational fluoroscopy and 3-D reconstruction in the diagnosis and surgical planning for complex cloacal malformations.

INTRODUCTION: Cloacal malformations, a confluence of the urinary tract, vagina and rectum into a single common channel, has a broad and complex anatomic spectrum requiring an imaging tool for visualization, measurement, and surgical planning for the reconstruction of these structures. We evaluated the role of 3-D fluoroscopy for this purpose, as it offers a combination of spatial correlation with precise anatomic measurements. METHODS: We examined our imaging protocol for patients with a cloacal malformation and report our experience with rotational fluoroscopy and 3-D reconstruction in 16 consecutive patients referred for cloacal reconstruction. The length of the common channel (CC), the length of the urethra from the bladder neck to the common channel, and the height (and existence or absence) of a vagina or vaginas were determinants of the surgical procedures used for the repair. RESULTS: We performed 16 consecutive 3-D cloacagrams (age range 4 months to 9 years) using a new protocol (Figure 1) that provided the following data which helped with surgical planning: Gynecologic: 3 cases with a single vagina, 5 cases with a duplicated Mullerian system (3 of which were asymmetric) and 2 cases with high vaginas requiring vaginal replacement. Colorectal: Four had a high rectum requiring an abdominal approach, and 6 had a rectum reachable via a posterior sagittal approach. Urologic: Two ectopic ureters requiring reimplantation, 3 patients had vesicoureteral reflux (1 bilateral, 2 unilateral), 1 patient had no bladder, and 7 had a normal sized bladder. Common channel length and urethral length were demonstrated in all cases and used to decide between a total urogenital mobilization or a separation of vagina(s) from the common channel, urogenital separation. CONCLUSION: The 3-D cloacagram can help predict the surgical plan for urologic, gynecologic, and colorectal components of the cloacal repair. It can predict the CC length as well as the length of the urethra. It helps with predicting the need for vaginal replacement and whether an abdominal approach is needed for the rectum. Its effectiveness is based on the ability to adequately distend structures and see their distal most extent, an advantage over other modalities such as MRI. Added benefits (particularly from the 3D view) include a better spatial understanding of the defect and the diagnosis of concomitant urological abnormalities such as vesicoureteral reflux and ectopic ureters. Disadvantages to this procedure include the need for general anesthesia and a higher exposure to radiation. LEVEL OF EVIDENCE: 3.

Urethral length in female infants and its relevance in the repair of cloaca.

AIM OF THE STUDY: The goals of urinary reconstruction in urogenital sinus and cloacal repair include: (1) positioning of the bladder neck above the urogenital diaphragm to maximize future urinary continence, and (2) creating a visible urethra that can be catheterized if needed. A recent algorithm in cloacal reconstruction proposed a urethral length of 1.5 cm as the key determinant in deciding whether to perform a total urogenital mobilization or a urogenital separation, the hypothesis being that a 1.5 cm length urethra is needed for the patient to remain dry. We wondered if the normal female urethral length correlated with this empiric technical determinant. METHODS: We reviewed voiding cystourethrograms of healthy female patients between ages 6 and 36 months and measured the patient's urethral length. RESULTS: Ninety-one children were included. The mean urethral length for patients age 6-12 months was 2.50 cm, age 12-24 months was 2.31 cm, and age 24-36 months was 2.59 cm. There was no difference between the urethral length in the three groups (p = 0.38). Of 91 patients, 87 (96%) had a urethral length >1.5 cm. CONCLUSION: A urethra of at least 1.5 cm was present in the majority of normal control patients. We believe therefore that for urogenital sinus and cloacal repair, surgeons can extrapolate that patients need a 1.5 cm urethra at the end of the reconstruction. Additional follow-up is needed to determine if this urethral length as an independent factor maintains dryness in the long term after cloacal repair. TYPE OF STUDY: Case Series. LEVEL OF EVIDENCE: III.

Cloaca reconstruction: a new algorithm which considers the role of urethral length in determining surgical planning.

BACKGROUND: Cloacal malformations represent a uniquely complex challenge for surgeons. The surgical approach to date has been based on the common channel (CC) length with two patient groups considered: less than or greater than 3cm, which we believe is an oversimplification. We reviewed 19 patients, referred after surgery done elsewhere. Eight had postoperative urinary complications, 3 had constant urinary leakage and had been left after surgery with a urethra <1cm, .5 with an original 3 to 5cm common channel, who had undergone total urogenital mobilization (TUM), experienced peri-operative urethral loss needing a vesicostomy, and later, a Mitrofanoff. These patients together with a review of the cloacal and urological literature led us to design a new algorithm where urethral length is a key determinant for care. METHODS: We prospectively collected data on 31 consecutive cloaca patients referred to our team (2014 to 2016) and managed according to this new protocol. The CC length, urethral length, surgical technique employed, and initial outcomes were recorded. RESULTS: Of 31 primary cases, CC length was 1 to 3cm in 20, 3 to 5cm in 9, and greater than 5cm in 2. In the 1 to 3cm and the 3 to 5cm groups, a urethra less than 1.5cm led us to perform an urogenital separation. We only performed a TUM if the urethra was greater than 1.5cm. Using this protocol, we performed a urogenital separation in 1 of 20 in the 1 to 3cm CC group, 6 of 9 in the 3 to 5cm CC group, and 2 of 2 in the greater than 5cm CC group. Seven patients underwent separation, who with the previous approach, would have had a TUM. Thus far, no urinary leakage or urethral loss has occurred in any patient, but follow-up is less than 3years. CONCLUSION: Urethral length appears to be a vitally important component in cloacal reconstruction. A short urethra left after repair can lead to urinary leakage. A TUM done under the wrong circumstances can lead to urethral loss. We describe a new technical approach to cloacal repair which considers urethral length but recognize that long term urological outcomes will need to be carefully documented. TYPE OF STUDY: Clinical cohort study with no comparative group. LEVEL OF EVIDENCE: Level 4.

Uroepithelial thickening improves detection of vesicoureteral reflux in infants with prenatal hydronephrosis.

INTRODUCTION: Postnatal evaluation of prenatal hydronephrosis (PNH) often includes a voiding cystourethrogram (VCUG) for VUR assessment. Despite limited supporting data, VCUG is currently recommended if postnatal renal and bladder ultrasound (RBUS) reveals moderate/severe hydronephrosis (HN) or hydroureter (HU). Recent studies have shown VUR is more accurately diagnosed by using certain sonographic findings as criteria for obtaining VCUG. Uroepithelial thickening (UET) of the renal pelvis is a finding associated with high-grade vesicoureteral reflux (HGVUR); however, the clinical significance of UET with PNH has not been studied. OBJECTIVE: We sought to determine if the presence of UET implies increased risk for VUR, and to investigate whether UET can improve the test characteristics of RBUS for VUR. STUDY DESIGN: We retrospectively analyzed postnatal RBUS and VCUG findings in infants ≤30 days undergoing evaluation for "prenatal hydronephrosis" over an 11-year period. We used logistic regression to identify factors associated with VUR. Test characteristics of RBUS for HGVUR were compared based on the presence of UET and two criteria sets to define abnormal RBUS. Criteria set 1 consisted of HN SFU grade 3-4 and/or HU; criteria set 2 was defined by the presence of two of following: UET, HU, duplication, and/or renal dysmorphia. RESULTS: Of 135 patients, 39 (29%) had VUR, of whom 16 (41%) had HGVUR. UET was significantly associated with VUR (p < 0.001), and the sensitivity for HGVUR based on UET alone was 94%. On multivariable analysis, UET, HU, duplication, and renal dysmorphia remained significant independent predictors of HGVUR. Compared to criteria 1, using criteria 2 resulted in 43 fewer VCUGs, and significant improvement in sensitivity and specificity for HGVUR (Table). DISCUSSION: Consistent with previous studies, HN alone on postnatal RBUS has little value in predicting the presence or severity of VUR. This study is the largest known series to evaluate UET in the setting of PNH, and our results demonstrate that UET, as well as HU, duplication and renal dysmorphia, are independent sonographic findings predicting HGVUR. Using our proposed criteria, the probability of HGVUR is fourfold more than the prevalence described in the literature, and importantly, when compared to the criteria recommended by the SFU and AUA, would have resulted in 53% fewer VCUGs while missing zero cases of HGVUR. CONCLUSION: In infants with PNH, the sonographic findings of UET, HU, duplication and renal dysmorphia independently indicate greater risk of HGVUR, and the sensitivity and specificity of RBUS for HGVUR is markedly improved when at least two of the four are present.

Accuracy of radiographic estimation of small bowel dimensions in pediatric patients with short bowel syndrome.

BACKGROUND: The decision to perform autologous intestinal lengthening in patients with short bowel syndrome (SBS) depends on total bowel length and the diameter and length of dilated segments. This study evaluated the accuracy of radiologic measurements of intestinal length and diameter. METHODS: Patients who underwent an intestinal lengthening procedure with preoperative upper gastrointestinal study (UGI) were identified from 10/2012 through 1/2015. Measurements of total length and diameters and lengths of dilated segments on UGI were compared to intraoperative measurements using Spearman's rank correlation coefficients and Bland-Altman plots. RESULTS: Fourteen patients underwent 15 lengthening procedures. Median age was 3.6years. Most common causes of SBS were complicated gastroschisis (43%) and small bowel atresia (36%). Intra-operative bowel lengths prior to performing lengthening procedures ranged from 21 to 170cm. The median measurements of radiographic and operative measurements (respectively) were total bowel lengths 77cm and 69cm (r=0.93, p<0.0001), maximum diameters 7.7cm and 7cm (r=0.86, p=0.001), and lengths of dilated segments 13cm and 14cm (r=0.41, p=0.36). CONCLUSIONS: The correlation between UGI and operative measurements suggests that prediction of total bowel length and maximum diameter of dilation is accurate and can assist with operative planning.

Uroepithelial Thickening on Sonography Improves Detection of Vesicoureteral Reflux in Children with First Febrile Urinary Tract Infection.

PURPOSE: The 2011 American Academy of Pediatrics clinical practice guideline for childhood febrile urinary tract infection recommends voiding cystourethrography if renal and bladder ultrasound reveals hydronephrosis, scarring or "other findings" that suggest high grade vesicoureteral reflux. We sought to determine if the finding of uroepithelial thickening indicates greater risk of high grade vesicoureteral reflux and whether uroepithelial thickening improves the screening value of renal and bladder ultrasound. MATERIALS AND METHODS: We retrospectively analyzed renal and bladder ultrasound and voiding cystourethrogram findings in children 2 to 24 months old with first febrile urinary tract infection during an 11-year period. Patients with uroepithelial thickening were compared to an age and gender matched sample without uroepithelial thickening. Logistic regression was used to identify factors associated with high grade vesicoureteral reflux. Test characteristics of renal and bladder ultrasound for high grade reflux were compared based on different criteria to define an abnormal renal and bladder ultrasound. RESULTS: Of 226 patients 143 (63%) had vesicoureteral reflux, of whom 37 (26%) had high grade reflux. On multivariable analysis uroepithelial thickening was a significant independent predictor of high grade vesicoureteral reflux (OR 5.41, 95% CI 1.74-16.79, p = 0.004). When hydronephrosis and hydroureter were considered the only abnormal renal and bladder ultrasound findings warranting voiding cystourethrography, sensitivity of renal and bladder ultrasound for high grade reflux was 84%, and 6 children with high grade and 82 with low grade reflux would have been missed. When uroepithelial thickening was also considered an abnormal finding, the sensitivity increased to 97%, and only 1 child with high grade and 57 with low grade reflux would have been missed. CONCLUSIONS: Uroepithelial thickening is associated with an increased risk of high grade vesicoureteral reflux and is an abnormal finding warranting voiding cystourethrography. Sensitivity of renal and bladder ultrasound as a screening test for high grade vesicoureteral reflux is markedly improved when uroepithelial thickening is considered.

Reducing computed tomography scans for appendicitis by introduction of a standardized and validated ultrasonography report template.

PURPOSE: Computed tomography (CT) for the diagnosis of appendicitis is associated with radiation exposure and increased cost. In an effort to reduce the diagnostic use of CT scans, we implemented a standardized ultrasound report template based on validated secondary signs of appendicitis. METHODS: In September 2012, as part of a quality improvement project, we developed and introduced a four category standardized ultrasound report template for limited right lower quadrant abdominal ultrasounds. Outcomes for patients undergoing ultrasound or CT scan for appendicitis between 9/10/2012 and 12/31/2013 (Period 2, n=2033) were compared to the three months prior to implementation (Period 1, n=304). RESULTS: In Period 1, 78 of 304 (25.7%) patients had appendicitis versus 385 of 2033 (18.9%) in Period 2 (p=0.006). Non-diagnostic exams decreased from 48% to 0.1% (p<0.001). Ultrasound sensitivity improved from 66.67% to 92.2% (p<0.001). Specificity did not significantly change (96.9% to 97.69%, p=0.46). CT utilization for appendicitis decreased from 44.3% in Period 1 to 14.5% at the end of Period 2 (p<0.001). CONCLUSIONS: Implementation of a standardized ultrasound report template based on validated secondary signs of appendicitis nearly eliminated non-diagnostic exams, improved diagnostic accuracy, and resulted in a striking decrease in CT utilization.

The value of fluoroscopic defecography in the diagnostic and therapeutic management of defecation disorders in children.

BACKGROUND: Defecography is a study to assess anorectal function during evacuation. OBJECTIVE: To investigate the value of fluoroscopic defecography in directing diagnostic and therapeutic management in children with defecation disorders. MATERIALS AND METHODS: We reviewed all fluoroscopic defecography studies performed (2003-2009) in children with defecation problems and normal anorectal motility studies. Results were classified into three groups: (1) normal pelvic floor function; (2) pelvic floor dyssynergia, including incomplete relaxation of pelvic musculature, inconsistent change in anorectal angle and incomplete voluntary evacuation; (3) structural abnormality, including excessive pelvic floor descent with an intra-rectal intussusception, rectocele or rectal prolapse. RESULTS: We included 18 patients (13 boys, median age 9.1 years). Indication for fluoroscopic defecography was chronic constipation in 56%, fecal incontinence in 22% and rectal prolapse in 22%. Defecography showed pelvic floor dyssynergia in 9 children (50%), a structural abnormality in 4 (22%) and normal pelvic floor function in 5 (28%). In 12 children (67%) the outcome of fluoroscopic defecography directly influenced therapeutic management. After defecography 4 children (22%) were referred for anorectal biofeedback treatment, 4 children (22%) for surgery, 2 children (11%) for additional MR defecography, and 1 child to the psychology department, and medication was changed in 1 child. In 6 children (33%) the result did not change the management. In 9 children (75%) the change of management was successful. CONCLUSIONS: Fluoroscopic defecography can be a useful tool in understanding the pathophysiology and it may provide information that impacts management of children with refractory defecation disorders.

The antimicrobial defense mechanism of the female urethra: a reassessment.

PURPOSE: This review of the literature and study of the cytology of the urethra were done to define the potential role of the female urethra as a staging site for urinary tract infection and examine the evidence for a urethral defense mechanism. MATERIALS AND METHODS: We re-analyzed data on the quantitative microbiology of the female urethra published 3 decades ago, reviewed the literature on the initiation of ascending urinary tract infections, the cytology and anatomy of the urethra, and performed studies of the morphology of urethral cells in boys and girls, men, menstruating and menopausal women, and women with acute cystitis. We also considered clues about the urethral microenvironment provided by gonococcal cervicitis and urethritis. RESULTS: We found strong statistical evidence that the female urethra has a powerful antimicrobial defense mechanism, which appears to differ in women with and without recurrent urinary tract infections. We corroborated the findings of previous investigators that the female urethra is lined by cells identical to those of the vagina that respond similarly to estrogens. We found immature basal and parabasal cells in children, and a modest inflammatory response to urinary tract infection. CONCLUSIONS: The female urethra may provide a favorable environment for colonization by uropathogens but it is protected by a powerful defense mechanism. This mechanism may be explained by the shedding of uropathogens bound to exfoliating urethral cells, trapping of bacteria by mucus secreted by the paraurethral glands, intermittent washout by urine, local production of Ig, cytokines and defensins and mobilization of leukocytes.