Atypical Presentation Delays Treatment of Pediatric Testicular Torsion.

OBJECTIVE: The aim of the study is to identify patient- and care-related factors associated with time to treatment for acute testicular torsion and the likelihood of testicular loss. METHODS: Data were retrospectively collected for patients 18 years and younger who had surgery for acute testicular torsion between April 1, 2005, and September 1, 2021. Atypical symptoms and history were defined as having abdominal, leg, or flank pain, dysuria, urinary frequency, local trauma, or not having testicular pain. The primary outcome was testicular loss. The primary process measure was time from emergency department (ED) triage to surgery. RESULTS: One hundred eleven patients were included in descriptive analysis. The rate of testicular loss was 35%. Forty-one percent of all patients reported atypical symptoms or history. Eighty-four patients had adequate data to calculate time from symptom onset to surgery and time from triage to surgery and were included in analyses of factors affecting risk of testicular loss. Sixty-eight patients had adequate data to evaluate all care-related time points and were included in analyses to determine factors affecting time from ED triage to surgery. On multivariable regression analyses, increased risk of testicular loss was associated with younger age and longer time from symptom onset to ED triage, while longer time from triage to surgery was associated with reporting atypical symptoms or history.The most frequently reported atypical symptom was abdominal pain, in 26% of patients. These patients were more likely to have nausea and/or vomiting and abdominal tenderness but equally likely to report testicular pain and swelling and have testicular findings on examination. CONCLUSIONS: Patients presenting to the ED with acute testicular torsion reporting atypical symptoms or history experience slower transit from arrival in the ED to operative management and may be at greater risk of testicular loss. Increased awareness of atypical presentations of pediatric acute testicular torsion may improve time to treatment.

Hydrometrocolpos: a Contemporary Review of the Last 5 Years.

PURPOSE OF REVIEW: The goal of this review is to provide a comprehensive overview of hydrometrocolpos, covering disease etiology, pathophysiology, clinical presentation, and diagnostic and management techniques, and known outcomes. RECENT FINDINGS: This narrative review presents the literature on hydrometrocolpos in the pediatric population from the past 5 years. We highlight the 69 reported cases of hydrometrocolpos and classify them based on type of obstruction or associated anomaly, discuss new diagnostic algorithms based on imaging, and present novel and underutilized surgical techniques for definitive management. Hydrometrocolpos, a condition characterized by retained fluid causing a distended vagina and uterus in the setting of a distal vaginal outflow obstruction, has a wide range of presentation severity based on the type of obstruction. Whether hydrometrocolpos is due to an isolated condition like imperforate hymen, a complex abnormality like cloacal malformation, or a part of a large congenital syndrome, the mainstay of treatment is decompression of the dilated vagina and surgical correction of the outflow obstruction. Imaging-based diagnostic algorithms and new treatment techniques reported in the literature, as well as longitudinal and patient-reported outcome research, can improve the lives of children affected by this condition.

Virilization of a 46,XX Fetus Following Aromatase Inhibitor Treatment of Breast Cancer.

Virilization of the 46,XX infant may be attributed to maternal or fetoplacental origin. Maternal sources may be endogenous, as with an androgen-producing tumor, or drug-related. Iatrogenic virilization by maternal drug exposure is rarely reported, with individual case reports and case series demonstrating the effects of progesterone and other medications affecting the pituitary-ovarian axis.1-3 The class of medications known as aromatase inhibitors are recognized as effective in treating hormone receptor-positive breast cancer by preventing the conversion of androgens into estrogens by aromatase. In fetal development, placental aromatase plays a critical role in preventing virilization of the XX fetus by maternal and fetal androgens during development. In the setting of placental aromatase deficiency, the XX fetus may be virilized. It is conceivable, therefore, that maternal exposure to aromatase inhibitors early in gestation may lead to in utero virilization, though there have been no known reports of this phenomenon to date. We present a case of virilization of a 46,XX infant attributed to pharmacologic aromatase inhibition. The infant's parents provided informed consent for the reporting of this case.

Rare case of an isolated scaphoid congenital megalourethra: before and after reconstruction.

Congenital megalourethra, first described in 1955, is a rare urethral anomaly resulting from dysgenesis of the penile corpus spongiosum, with or without corpus cavernosum involvement, leading to dilatation of the penile urethra. Presentations come in two forms, scaphoid and fusiform, with the former being more common and resulting from deficient or absent corpus spongiosum. Fusiform types are much rarer, and consist of absence of both the corpus spongiosum and cavernosum.3 Here, we present a case involving the surgical correction of an isolated scaphoid-type congenital megalourethra with significantly improved postoperative cosmetic and functional outcomes.

Press Ganey Ratings in Urology: Who is at Risk of Bias?

OBJECTIVE: To evaluate effect of patient and physician demographics on Press Ganey (PG) survey ratings for urologists. METHODS: PG surveys (02/2020-08/2021) for urologists at a single tertiary care center were analyzed. Univariate and multivariate logistic regression models were used to assess the relationship between patient and physician-level covariates and the primary outcome of a "topbox" Overall Doctor Rating (topbox-ODR) score of 9 or 10 of 10. RESULTS: A total of 4155 surveys of 20 attending urologists (8 female (F)) across 7 subspecialties, were assessed. Mean ODR score for F physicians was 9.2 (SD 1.7) compared to 9.5 (SD 1.3) for males (M), P < .001. Univariate regression demonstrated that F patients are less likely (OR 0.27, P < .001) to give topbox-ODRs than M patients, and F physicians are 58% less likely (OR 0.42, P = .01) to receive topbox-ODRs than M physicians. Oncologists are more likely to receive topbox-ODRs (OR 3.3, P = .009) than all other subspecialists. Multivariate regression demonstrated that M patients are more likely to give M physicians top-box-ODRs (OR 0.32, P = .02), while F patients are less likely to give topbox-ODRs to physicians of both genders (M: OR 0.24, P < .001; F: 0.21, P < .001). Physicians in practice for >10 years are 66% less likely to receive topbox-ODRs (OR 0.33, P = .002). CONCLUSION: Urologists who care for F patients are at risk of being affected by bias in PG physician ratings. M physicians who care for M patients appear to be at the least risk; while F physicians who care for F patients appear to be at the highest risk.

Biologic adjuvant urethral coverings for single-stage primary hypospadias repairs: A systematic review and pooled proportional meta-analysis of postoperative urethrocutaneous fistulas.

BACKGROUND: The use of barrier layers between the neourethra and skin is associated with lower rates of post-operative urethrocutaneous fistula (UCF) following hypospadias surgery. Recent studies have evaluated the ability of biologic adjuvant urethral coverings (BAUCs) - namely acellular matrix (AM), tissue adhesives (TAs), and autologous platelet-rich plasma or fibrin (PRP/PRF) - to prevent wound complications following hypospadias surgery. In general, however, these studies are small and conducted at single institutions. OBJECTIVE: To assess the effect of BAUCs on the rate of UCF following single-stage primary hypospadias repair. METHODS: We conducted a systematic review of studies reporting the rate of postoperative UCF in pediatric patients undergoing single-stage, primary hypospadias repairs using either AM, TA, or PRP/PRF as a layer interposed between the neourethra and skin. We then performed a pooled proportional meta-analysis of post-operative UCF. Patients within each study who underwent comparable surgery but did not receive a BAUC were used as controls. RESULTS: 10 studies were included in our review. The meta-analysis included 280 patients from 7 studies who underwent hypospadias repairs with BAUCs. The pooled incidence of UCF was 10% (95% CI 6-14%). Mean follow-up ranged 5-23.5 months in the 5/7 studies reporting specific durations, and ≥6 month and 14-30 months, respectively, in the other two studies. Patients in whom a BAUC was used had significantly lower odds of UCF than control patients (OR 0.39, 95% CI 0.24-0.64, p = 0.0002). In subgroup analyses, significant superiority held for AM and TA; proximal or penoscrotal cases; transverse preputial island flap (TPIF) technique; when both cases and controls had local flaps; and when neither cases nor controls had flaps. DISCUSSION: The use of BAUCs was associated with decreased rates of post-operative UCF in single-stage primary hypospadias repairs and may be most beneficial in more severe cases and when used in addition to local flaps or when using a flap is not possible. In 2/3 studies of PRP/PRF and 2/4 studies of tubularized incised plate (TIP) technique, dartos flaps were used in controls but not BAUC patients, which may explain the lack of benefit demonstrated for these subgroups. This meta-analysis is limited by the quality of evidence in the included studies, which are not uniformly randomized. Furthermore, the follow-up durations and methods for assessing complications are not standardized between included studies. CONCLUSION: The meta-analysis herein suggests that using BAUCs may reduce UCF rates following hypospadias surgery. Rigorous prospective evaluation is needed to validate this benefit.

CEP97 phosphorylation by Dyrk1a is critical for centriole separation during multiciliogenesis.

Proper cilia formation in multiciliated cells (MCCs) is necessary for appropriate embryonic development and homeostasis. Multicilia share many structural characteristics with monocilia and primary cilia, but there are still significant gaps in our understanding of the regulation of multiciliogenesis. Using the Xenopus embryo, we show that CEP97, which is known as a negative regulator of primary cilia formation, interacts with dual specificity tyrosine phosphorylation regulated kinase 1A (Dyrk1a) to modulate multiciliogenesis. We show that Dyrk1a phosphorylates CEP97, which in turn promotes the recruitment of Polo-like kinase 1 (Plk1), which is a critical regulator of MCC maturation that functions to enhance centriole disengagement in cooperation with the enzyme Separase. Knockdown of either CEP97 or Dyrk1a disrupts cilia formation and centriole disengagement in MCCs, but this defect is rescued by overexpression of Separase. Thus, our study reveals that Dyrk1a and CEP97 coordinate with Plk1 to promote Separase function to properly form multicilia in vertebrate MCCs.

Pediatric Penile Non-Involuting Congenital Hemangioma With an Associated Pyogenic Granuloma: Surgical Management of a Rare Vascular Anomaly.

Vascular anomalies include both tumors and malformations. Infantile hemangiomas are the most common benign vascular tumor of infancy that proliferate after birth and eventually involute. By contrast, congenital hemangiomas are formed at birth and are categorized into three groups: rapidly involuting, partially-involuting, and non-involuting congenital hemangiomas (NICH). NICH do not regress and grow with age. Pyogenic granulomas, another acquired vascular tumor, develop over vascular lesions and cause bleeding. Primary treatment options for NICH and pyogenic granulomas are surgical resection. Here, we report a case of a NICH with a co-existing pyogenic granuloma involving the penile shaft and scrotum treated surgically.

Considerations for utilizing medullary sponge kidney allografts in pediatric patients.

BACKGROUND: Medullary sponge kidney (MSK) disease predisposes patients to recurrent nephrolithiasis, which affects one in every 5000 people in the United States. METHODS: We report a rare case of a pediatric recipient of a living donor MSK transplant and discuss considerations when discussing risks and benefits of accepting MSK allografts for this population. RESULTS: The recipient was admitted due to concerns for nephrolithiasis, hydronephrosis, and urinary tract infection at 1-month post-transplant. The hydronephrosis was resolved by surgical removal of an encrusted ureteral stent; this was followed by supplementation with oral medications to prevent future episodes of nephrolithiasis. The recipient did not have any further episodes after this as seen at a 1-year follow-up. The donor has remained well through this period. CONCLUSIONS: With increasing organ shortages, the use of variety of donors may need to be considered to enlarge the organ pool.

Inappropriate imaging for management of cryptorchidism: Has the choosing Wisely® recommendation reduced occurrence?

INTRODUCTION: Cryptorchidism is one of the most common referral diagnoses to pediatric urologists. It is well recognized in the urologic community that diagnostic imaging is unnecessary in the work-up of these patients, and the Choosing Wisely® recommendation (CWR) on this subject re-emphasized this in 2013. Many boys, however, still are sent for testing prior to referral. OBJECTIVE: The purpose of our study was dual in nature. We pursued, first, to identify any factors that make patients more likely to be sent for imaging prior to referral, and second, to determine if rates of diagnostic imaging for cryptorchidism decreased after the release of the CWR. STUDY DESIGN: We included all boys who had surgery for cryptorchidism by Urology at our institution between January 2007 and August 2018. Demographics and clinical data were collected including height, weight, race, insurance type, pre-referral imaging status, testis location at time of surgery, and distance from our medical center. Chi-squared analysis was utilized to compare imaging use before and after CWR. Influence of other clinical and socioeconomic factors on imaging utilization was also evaluated using chi-squared and two-sample t tests. Those found to be significant at the 0.2 level were analyzed in multivariate logistic regression. Significance was set at 0.05. RESULTS: 1010 boys were available for analysis. Of the 256 patients (25.3%) with pre-referral studies, 7 had axial exams (CT or MRI), and the remainder underwent ultrasounds. Children living closer to the medical center were more likely to undergo imaging (p < 0.01) as were boys with testes not found in the inguinal canal at the time of surgery (p = 0.007). Race, insurance status, age at first visit, and increased body mass index were not found to be influential. Similarly, the release of CWR had no impact on the imaging usage (p = 0.61). CONCLUSION: Utilization of pre-referral diagnostic imaging remains inappropriately high despite evidence demonstrating the ineffectiveness of the studies. Boys living closer to the medical center and those with non-inguinal testes are more likely to undergo these studies, but no other factors were found to have an effect. Further, the Choosing Wisely® recommendation has not improved rates of inappropriate imaging use in boys with cryptorchidism in our referral area. Our findings indicate the need for increased efforts to disseminate this evidence-based guideline more widely to primary care providers in order to promote more cost-effective and timely care of boys with undescended testes.

Association Between Endoscopic and Histologic Findings in a Multicenter Retrospective Cohort of Patients with Non-esophageal Eosinophilic Gastrointestinal Disorders.

BACKGROUND: Little is known about the endoscopic and histologic findings of non-esophageal eosinophilic gastrointestinal diseases (EGID). AIM: To characterize the presenting endoscopic and histologic findings in patients with eosinophilic gastritis (EG), eosinophilic gastroenteritis (EGE), and eosinophilic colitis (EC) at diagnosis and 6 months after initiating the treatment. METHODS: We conducted a retrospective cohort study at 6 US centers associated with the Consortium of Eosinophilic Gastrointestinal Researchers. Data abstracted included demographics, endoscopic findings, tissue eosinophil counts, and associated histologic findings at diagnosis and, when available, after initial treatment. RESULTS: Of 373 subjects (317 children and 56 adults), 142 had EG, 123 EGE, and 108 EC. Normal endoscopic appearance was the most common finding across all EGIDs (62% of subjects). Baseline tissue eosinophil counts were quantified in 105 (74%) EG, 36 (29%) EGE, and 80 (74%) EC subjects. The mean peak gastric eosinophil count across all sites was 87 eos/hpf for EG and 78 eos/hpf for EGE. The mean peak colonic eosinophil count for EC subjects was 76 eos/hpf (range 10-500). Of the 29% of subjects with post-treatment follow-up, most had an improvement in clinical, endoscopic, and histologic findings regardless of treatment utilized. Reductions in tissue eosinophilia correlated with improvements in clinical symptoms as well as endoscopic and histologic findings. CONCLUSIONS: In this large cohort, normal appearance was the most common endoscopic finding, emphasizing the importance of biopsy, regardless of endoscopic appearance. Decreased tissue eosinophilia was associated with improvement in symptoms, endoscopic, and histologic findings, showing that disease activity is reversible.

Increasing Rates of Diagnosis, Substantial Co-Occurrence, and Variable Treatment Patterns of Eosinophilic Gastritis, Gastroenteritis, and Colitis Based on 10-Year Data Across a Multicenter Consortium.

OBJECTIVES: The literature related to eosinophilic gastritis (EG), gastroenteritis (EGE), and colitis (EC) is limited. We aimed to characterize rates of diagnosis, clinical features, and initial treatments for patients with EG, EGE, and EC. METHODS: In this retrospective study, data were collected from 6 centers in the Consortium of Eosinophilic Gastrointestinal Researchers from 2005 to 2016. We analyzed demographics, time trends in diagnosis, medical history, presenting symptoms, disease overlap, and initial treatment patterns/responses. RESULTS: Of 373 subjects (317 children and 56 adults), 38% had EG, 33% EGE, and 29% EC. Rates of diagnosis of all diseases increased over time. There was no male predominance, and the majority of subjects had atopy. Presenting symptoms were similar between diseases with nausea/vomiting and abdominal pain, the most common. One hundred fifty-four subjects (41%) had eosinophilic inflammation outside of their primary disease location with the esophagus the second most common gastrointestinal (GI) segment involved. Multisite inflammation was more common in children than in adults (68% vs 37%; P < 0.001). Initial treatment patterns varied highly between centers. One hundred-nine subjects (29%) had follow-up within 6 months, and the majority had clinical, endoscopic, and histologic improvements. CONCLUSIONS: In this cohort, EG, EGE, and EC were diagnosed more frequently over time, and inflammation of GI segments outside the primary disease site co-occurrence of atopy was common with a lack of male predominance. Symptoms were similar between diseases, and initial treatment strategies were highly variable. Future investigation should assess the cause of the increased prevalence of eosinophilic GI disorders and prospectively assess outcomes to establish treatment algorithms.

Hydronephrosis After Pyeloplasty: "Will It Go Away?"

OBJECTIVE: To identify attributes of pediatric patients with hydronephrosis due to ureteropelvic junction obstruction and of their surgical encounters which are predictive of resolution of dilatation in order to provide more effective counseling about expected outcomes. This study was inspired by the suggestion in recent literature that greater than 20% improvement in anteroposterior diameter (APD) of the renal pelvis after pyeloplasty is indicative of resolution of obstruction. The remaining dilatation, however, is often distressing to caregivers, and there are no data to guide clinicians in counseling about its likelihood to resolve. METHODS: We retrospectively reviewed children who underwent surgery at our institution for ureteropelvic junction obstruction between 1/01/2010 and 6/30/2017. APD of the pre- (preAPD) and postoperative (postAPD) renal pelves were documented. In children with more than 1 postoperative ultrasound, lastAPD was the measurement on their most recent study. Appropriate statistical tests examined the effects of clinical and surgical variables on hydronephrosis resolution. RESULTS: PostAPD and lastAPD were obtained at medians of 3 months and 1.9 years after surgery, and were 0 cm in 12 of 105 (11.5%) and 9 of 65 (13.8%) patients, respectively. None of the variables analyzed significantly impacted complete resolution at either time point. Of those that did not resolve, 80.6% (75/93) showed greater than 20% improvement in APD; however, 3 of these children required reoperation due to secondary obstruction. In our study, no one with APD reduction greater than 43% required reintervention. CONCLUSION: Complete resolution of hydronephrosis is uncommon and unpredictable. All caregivers should be counseled to expect dilatation to persist after obstruction is corrected.

Alignment of parent- and child-reported outcomes and histology in eosinophilic esophagitis across multiple CEGIR sites.

BACKGROUND: Patient-reported outcome metrics for eosinophilic esophagitis (EoE) have been developed and validated but not used in a multicenter pediatric population or systematically aligned with histology. OBJECTIVE: We sought to understand (1) the potential of caregiver report to predict patient self-reported symptoms and (2) the correlation of patient-reported outcome domains with histology. METHODS: Patients with EoE (n = 310) and their parents participating in the Consortium of Gastrointestinal Eosinophilic Disease Researchers (CEGIR) observational clinical trial were queried for baseline patient symptoms and quality of life (QOL) by using the Pediatric Eosinophilic Esophagitis Symptom Score, version 2 (PEESSv2.0), and the Pediatric QOL EoE module (PedsQL-EoE), and biopsy specimens were analyzed by using the EoE Histology Scoring System. RESULTS: PEESSv2.0 parental and child reports aligned across all domains (r = 0.68-0.73, P < .001). PedsQL-EoE reports correlated between parents and children across ages and multiple domains (r = 0.48-0.79, P < .001). There was a tight correlation between symptoms on PEESSv2.0 and their effects on QOL both on self-report and parental report (P < .001). Self-reported symptoms on PEESSv2.0 (positively) and PedsQL-EoE (inversely) showed a weak correlation with proximal, but not distal, peak eosinophil counts and features and architectural tissue changes on the EoE Histology Scoring System (P < .05). CONCLUSIONS: Parents of children with EoE aged 3 to 18 years accurately reflected their children's disease symptoms and QOL. Self- and parent-reported symptoms correlate with proximal esophageal histology. Our data suggest that parental report in young children can function as an adequate marker for self-reported symptoms and that self-reported symptoms can reflect changes in tissue histology in the proximal esophagus. These findings should be considered during clinical trials for drug development.

Eosinophilic oesophagitis endotype classification by molecular, clinical, and histopathological analyses: a cross-sectional study.

BACKGROUND: Eosinophilic oesophagitis is understood in terms of quantifiable histological, endoscopic, and molecular features. Data are scant for inter-relations of these features and their potential to identify distinct disease endotypes. We aimed to identify clinical-pathological correlations between endoscopic and histological disease variables by transcription profiling of the oesophagus of patients with eosinophilic oesophagitis of varying severity and disease activity states. METHODS: We did a cross-sectional study across ten hospital sites in the USA associated with the Consortium of Eosinophilic Gastrointestinal Disease Researchers. We analysed oesophageal biopsy specimens taken from paediatric and adult patients with eosinophilic oesophagitis (discovery cohort), using the eosinophilic oesophagitis diagnostic panel (EDP), a set of 96 informative transcripts. Histological and endoscopic features were assessed by quantification of oesophageal eosinophils and use of the eosinophilic oesophagitis histology scoring system (HSS) and the eosinophilic oesophagitis endoscopic reference score (EREFS). Associations among the various histological, endoscopic, and molecular features were analysed by Spearman correlation. Results were replicated in a biologically independent, single-centre, validation cohort of patients with active eosinophilic oesophagitis. FINDINGS: The discovery cohort contained 185 samples and the validation cohort comprised 100 specimens. In the discovery cohort, EDP showed intersite consistency, significant correlation with oesophageal eosinophils (p<0·0001), and similar findings between paediatric and adult patients. Of eight HSS domains, basal zone hyperplasia correlated with the EDP (median Spearman ρ 0·47 [IQR 0·36-0·60]). Of five EREFS features, distal furrows correlated with the EDP (median Spearman ρ 0·42 [0·32-0·50]). By analysing active eosinophilic oesophagitis in the discovery cohort, the EDP identified three clusters associated with distinct endotypes (termed EoEe1-3) despite similar eosinophil levels. EoEe1 was associated with a normal-appearing oesophagus (risk ratio [RR] 3·27, 95% CI 1·04-10·27; p=0·0443), an inverse association with a history of oesophageal dilation (0·27, 0·09-0·82; p=0·0105) and showed relatively mild histological, endoscopic, and molecular changes. EoEe2 showed an inflammatory and steroid-refractory phenotype (RR 2·77, 95% CI 1·11-6·95; p=0·0376) and had the highest expression of inflammatory cytokines and steroid-responding genes. EoEe3 was associated with a narrow-calibre oesophagus (RR 7·98, 95% CI 1·84-34·64; p=0·0013) and adult onset (2·22, 1·19-4·12; p=0·0155), and showed the highest degree of endoscopic and histological severity and the lowest expression of epithelial differentiation genes. These endotypes were replicated in the validation cohort by clustering and with an eosinophilic oesophagitis endotype-prediction algorithm. INTERPRETATION: Our new disease classification stratifies patients with eosinophilic oesophagitis into subgroups with potential clinical and therapeutic significance and provides a framework for a precision medicine approach to eosinophilic oesophagitis. FUNDING: National Institutes of Health.

Resolution of Diabetes Insipidus After Pyeloplasty: A Case Report and Review of the Literature.

Nephrogenic diabetes insipidus (NDI), a rare cause of polyuria and polydipsia in children, is usually managed with medications and careful monitoring of water intake. We present a child who was incidentally found to have right hydronephrosis secondary to ureteropelvic junction obstruction, and was subsequently also diagnosed with NDI. After being medically managed, he underwent open right pyeloplasty. His polydipsia abated within 1 month of surgery, and he has done well off of medications since that time. NDI resolution after correction of obstructive uropathy in adults has been reported, but this represents a novel case in pediatrics.

When Chemotherapy Is Not Enough-Management of Prostatic Embryonal Rhabdomyosarcoma in an Infant.

A baby boy was diagnosed with embryonal rhabdomyosarcoma causing left hydroureteronephrosis. A loop ureterostomy was performed, and the infant was treated per the RMS13 protocol. After 3 months of chemotherapy, the infant's tumor burden increased, and he underwent radical cystoprostatectomy and right-to-left transureteroureterostomy (end-to-end fashion utilizing the distal limb of his ureterostomy). This innovative method was utilized because the infant's tumor burden was too large to be treated effectively and safely with radiation. One year later, the infant has no evidence of disease. This demonstrates that optimal management of rhabdomyosarcoma is still unknown; therefore, each child warrants an individualized approach for optimal outcomes.

Creating a multi-center rare disease consortium - the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR).

 Eosinophilic gastrointestinal disorders (EGIDs) affect various segments of the gastrointestinal tract. Since these disorders are rare, collaboration is essential to enroll subjects in clinical studies and study the broader population. The Rare Diseases Clinical Research Network (RDCRN), a program of the National Center for Advancing Translational Sciences (NCATS), funded the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) in 2014 to advance the field of EGIDs. CEGIR facilitates collaboration among various centers, subspecialties, patients, professional organizations and patient-advocacy groups and includes 14 clinical sites. It has successfully initiated two large multi-center clinical studies looking to refine EGID diagnoses and management. Several pilot studies are underway that focus on various aspects of EGIDs including novel therapeutic interventions, diagnostic and monitoring methods, and the role of the microbiome in pathogenesis. CEGIR currently nurtures five physician-scholars through a career training development program and has published more than 40 manuscripts since its inception. This review focuses on CEGIR's operating model and progress and how it facilitates a framework for exchange of ideas and stimulates research and innovation. This consortium provides a model for progress on other potential clinical areas.