Atresia Patients Research Articles

A Randomized Control Trial to Evaluate the Effect of Local Instillation of Mitomycin-C at the Porta after Kasai Portoenterostomy in Patients of Biliary Atresia.

Kasai portoenterostomy (KPE) is the initial treatment for biliary atresia (BA). Even after initial jaundice clearance, a significant number of children presented with the reappearance of symptoms due to ongoing fibrosis involving porta and intrahepatic ducts. Mitomycin-C (MMC) is an antifibrotic agent, and the study hypothesized that local application of MMC at porta can decrease fibrosis, which can improve jaundice clearance and lead to better native liver survival (NLS). This prospective randomized control trial included children with BA, who were allocated to groups A or B. The patients in both groups underwent standard KPE; in addition, a 5 French infant feeding tube (IFT) was placed near the porta through the Roux limb in Group B children. During the postoperative period, MMC was locally instilled over the porta in Group B children through IFT. Postoperative jaundice clearance and NLS were assessed and compared. A total of 27 children were enrolled in the study, 16 in Group A and 11 in Group B. Both groups were comparable preoperatively. Although the NLS was not statistically significant in Group B, the survival was quite higher, that was 91%, 81%, and 73% at 6 months, 1 year, and 2 years, respectively, compared to 63%, 50%, and 38% in Group A. Children in Group B clinically showed an early jaundice clearance and a better trend of serial bilirubin levels as well as longer NLS than Group A, but it was not statistically significant. The procedure was technically easy, and no complication was encountered related to surgical technique or MMC instillation.

COMPARISON OF ADHESIVE AND PASSIVE TRANSCUTANEOUS BONE CONDUCTION SYSTEMS IN ATRETIC CHILDREN

IntroductionIn 2017, the first adhesive bone conduction device (aBCD) was introduced. Since then, clinical studies have extensively compared adhesive bone conduction devices to conventional bone conduction systems on softbands. The aim of this study is to evaluate the audiological and subjective outcomes of patients suffering from conductive hearing loss (CHL) who used an aBCD for a trial period, comparing outcomes with their existing passive transcutaneous bone conduction implants (ptBCI), which was either the Sophono Alpha or the BAHA Attract.Material and methodsThis prospective study included 14 congenital aural atresia patients between 7 and 16 years old. Participants had been ptBCI users for at least 2 years and had bone conduction thresholds ≤ 25 dB HL. The aBCD trial was for 1 week. Average pure tone thresholds (PTA4) and word recognition scores (WRS) with disyllabic words at 65 dB SPL in quiet and in noise were measured for each device. Subjective outcomes were recorded using the aBCD mini questionnaire and the SSQ questionnaire for hearing satisfaction, which were filled in by parents.ResultsWe analyzed 16 ears. The mean sound field PTA4 was 52 dB HL unaided, 27 dB HL ptBCI-aided and 29 dB HL aBCD-aided. Mean WRS in quiet was 96% with ptBCI and 95% with BCD. In noise (+5 dB SNR) the mean WRS was 70% with ptBCI and 77% with aBCD. A questionnaire revealed easy handling and good acceptance of the aBCD.ConclusionsIn this group of patients, comparable audiological and subjective satisfaction results were achieved with a non-implantable adhesive bone conduction device. Despite differences in handling, the adhesive BCD presents itself as an alternative to transcutaneous bone conduction implants.

Insight into microvascular adaptive alterations in the Glisson system of biliary atresia after Kasai portoenterostomy using X-ray phase-contrast CT.

To investigate microvascular alterations in the Glisson system of biliary atresia (BA) patients after Kasai portoenterostomy (KP) using three-dimensional (3D) virtual histopathology based on X-ray phase-contrast CT (PCCT). Liver explants from BA patients were imaged using PCCT, and 32 subjects were included and divided into two groups: KP (n = 16) and non-KP (n = 16). Combined with histological analysis and 3D visualization technology, 3D virtual histopathological assessment of the biliary, arterial, and portal venous systems was performed. According to loop volume ratio, 3D spatial density, relative surface area, tortuosity, and other parameters, pathological changes of microvasculature in the Glisson system were investigated. In the non-KP group, bile ducts mostly manifested as radial multifurcated hyperplasia and twisted into loops. In the KP group, the bile duct hyperplasia was less, and the loop volume ratio of bile ducts decreased by 13.89%. Simultaneously, the arterial and portal venous systems presented adaptive alterations in response to degrees of bile duct hyperplasia. Compared with the non-KP group, the 3D spatial density of arteries in the KP group decreased by 3.53%, and the relative surface area decreased from 0.088 ± 0.035 to 0.039 ± 0.015 (p < .01). Deformed portal branches gradually recovered after KP, with a 2.93% increase in 3D spatial density and a decrease in tortuosity from 1.17 ± 0.06 to 1.14 ± 0.04 (p < .01) compared to the non-KP group. 3D virtual histopathology via PCCT clearly reveals the microvascular structures in the Glisson system of BA patients and provides key insights into the morphological mechanism of microvascular adaptation induced by biliary tract dredging after KP in BA disease. • 3D virtual histopathology via X-ray phase-contrast computed tomography clearly presented the morphological structures and pathological changes of microvasculature in the Glisson system of biliary atresia patients. • The morphological alterations of microvasculature in the Glisson system followed the competitive occupancy mechanism in the process of biliary atresia.

Liver Explants of Biliary Atresia Patients Transplanted in Adulthood Show Features of Obliterative Portal Venopathy: Case Series and Guidelines for Pathologic Reporting of Adult Explants.

Biliary atresia (BA) patients can have portal vein (PV) abnormalities. To investigate the explant pathology of BA patients transplanted in adulthood with a focus on portal venous abnormalities. Adult BA liver explants were reviewed, along with prior biopsies, Kasai portoenterostomy (KP), and relevant medical records. Three explants were identified; all patients were female, with age at diagnosis, KP, and liver transplantation (LT) as follows: (1) less than 1 week, 8 days, and 25 years; (2) 15 weeks, 16 weeks, and 32 years; and (3) 7 weeks, 8 weeks, and 33 years, respectively, with normalization of conjugated bilirubin within 6 months of KP and development of portal hypertension (PHTN) within 3 years of KP for all 3. The first 2 had recurrent cholangitis. Duration of pre-LT PHTN was 22, 29, and 30 years, and that of pre-LT cholangitis was 9, 3, and 0 years, respectively. All 3 explants showed hilar and extrahepatic fibromyxoid intimal hyperplasia of the PV with parenchymal hepatoportal sclerosis. Cholestasis was limited to those with a history of cholangitis. Patient 3, without cholangitis, showed delicate septal fibrosis with peripheral accentuation without biliary cirrhosis. In the context of a functioning KP, cholestasis and biliary cirrhosis are likely related to recurrent cholangitis, which may or may not occur after KP. In the absence of biliary cirrhosis, PHTN may be secondary to obliterative venopathy. Adult BA explants should be sampled thoroughly, with a focus on hilar/perihilar connective tissue to include PV branches. Explants may not show biliary cirrhosis and should be reported with appropriate clinicopathologic correlation.

Primary exploring the value of metagenomic next-generation sequencing in detecting pathogenic bacteria of cholangitis with biliary atresia after Kasai operation.

To evaluate the value of metagenomic next-generation sequencing (mNGS) in detecting pathogenic bacteria of cholangitis for patients with biliary atresia after Kasai operation. This study retrospectively analyzed patients of biliary atresia with cholangitis after Kasai operation who were admitted to Xi'an Children's Hospital from July 2019 to December 2021. Both blood culture and mNGS were carried out in all of these patients. We compared the detection rate of pathogenic bacteria, pathogenic bacteria spectrum, test time, inflammatory indicators and liver function. All the patients were followed up for 0.5-3years to evaluate the onset of cholangitis and the survival status of autologous liver. This study included total of 30 cholangitis occurred in 25 patients. There were significant differences in the detection rate of pathogenic bacteria [23.3 vs.73.3%, P < 0.05] and the test time [120 (114.5-120) vs.16 (16-21) h, P < 0.001] between the blood culture and mNGS. These two methods showed significant statistical differences in comparing inflammatory indicators (CRP, PCT) and liver function (TB, DB, GGT) before and after anti-infection. Four kinds of bacteria were detected by blood cultures and ten kinds of bacteria were detected by mNGS. Cholangitis occurred 3times in one case (4%) and twice in three cases (12%). Autologous liver survived in 17 cases (68%). Comparing with traditional blood culture, mNGS is more efficient, convenient and accurate in the detection of pathogens. It provides a new method for accurately detecting pathogenic bacteria of cholangitis after Kasai operation.

Improved Kasai Hepatoportoenterostomy Outcomes After Implementation of a Dedicated Biliary Atresia Team.

It can be difficult or impractical to refer all biliary atresia (BA) patients to high-volume centers. Our hypothesis was that a low volume center could improve outcomes with implementation of a dedicated multidisciplinary BA team. We conducted a retrospective study of patients with BA who underwent hepatic portoenterostomy at our institution from 2003 to 2020, before and after the development of a dedicated BA team. Ten consecutive patients with BA were identified following the establishment of a dedicated BA team. Since the establishment of the BA team, total bilirubin (TB) clearance (TB < 2mg/dL) achieved by 3 and 6months has been 60% and 60%, respectively, and survival of the native liver (SNL) at 1 and 2years post HPE at 90% and 86%, respectively. Outcomes were markedly improved after the team was established. A dedicated BA team prioritizing communication and expeditious workup can improve outcomes at a low volume center.

Quality of life after type-A esophageal atresia surgery: changes over time and effect of pre-anastomotic elongation.

To assess mid-/long-term postoperative quality of life (QOL) of esophageal atresia (EA) patients. Modified gastrointestinal quality-of-life index surveys were administered to postoperative EA patients who were at least 7years old at evaluation to assess three topics about general lifestyle (GL), five topics about EA, and four topics about mental health (MH). For MH, caregivers were also interviewed, but separately. Subjects were divided according to age: children (7-12years old), teenagers (13-19), and adults (20 and over) and compared according to Foker or Kimura elongation (FK) or bougienage stretching (BS). There were 22 patients evaluated. Responses for GL, EA, and MH did not differ significantly between age groups, but MH responses by caregivers for subjects who were children or teenagers scored significantly lower than responses they made themselves. For primary esophageal elongation technique (PET), age at esophagoesophagostomy was significantly higher in FK. Despite FK scoring 15.1 versus 12.4 for BS during EA evaluation, this difference was not statistically significant. Changes in QOL responses according to age were unremarkable. However, discrepancies in MH indicate that subjects felt better than their caregivers thought. PET did not appear to influence QOL.

Congenital aural atresia: hearing rehabilitation using Active Middle Ear Implants.

To assess hearing rehabilitation in patients with congenital aural atresia using an active middle-ear implant (Vibrant Soundbridge). Of a cohort of 70 microtia and atresia patients, 10 underwent Vibrant Soundbridge implantation between 2008 and 2021. Two of the 10 patients had binaural implantation, resulting in 12 ears for analysis. Pre- and post-operative audiometry data were analysed, and patient satisfaction was evaluated. Surgical issues regarding coupling sites and outcomes were analysed. Pure tone average (0.5, 1, 2 and 4 kHz) improved from a pre-operative mean (standard deviation) of 65.3 (8.7) dB HL to a post-operative mean of 26.8 (4.9) dB HL. This resulted in a mean pure tone average gain of 38.5 dB HL. The results indicate no obvious difference between stapes (n = 8) and incus (n = 4) coupling. The mean effective gain for 0.5, 1, 2 and 4 kHz was -17.8 dB HL (standard deviation = 4.3). Concerning effective gain, Vibrant Soundbridge performed best at 2 kHz. Patients reported high overall satisfaction, good sound quality and strongly improved directional hearing. An active middle-ear implant (Vibrant Soundbridge) allows hearing rehabilitation in selected atretic ears, and provides long-term hearing stability in children and adults.

IL13 and periostin in active fibrogenic areas of the extrahepatic bile ducts in biliary atresia patients.

The leading pathology of biliary atresia (BA) is inflammatory and fibrous obstruction of extrahepatic bile duct, but the pathogenesis remains unclear. IL13 is a cytokine associated with allergies and inflammatory fibrosis, and periostin induces fibrogenesis by stimulation with IL13. We analyzed the involvement of IL13 and periostin in inflammatory fibrosis in the extrahepatic bile duct of BA patients. Surgically resected tissues from the hepatic hilar area of BA patients were immunostained with CD45, α-SMA, IL13 and periostin and statistically analyzed. Fibroblasts from the resected tissue were cultured with recombinant IL13, and periostin production was analyzed by quantitative polymerase chain reaction and Western blotting. IL13 was stained in 93% of large and micro bile ducts, and 92.1% matched with the CD45 location (p = 0.006) around the large bile ducts. Periostin staining correlated with the localization of IL13 and αSMA (p < 0.001) around the large bile ducts. Periostin mRNA and protein were upregulated by IL13 stimulation in cultured fibroblasts. IL13 was associated with induced periostin expression by fibroblasts, playing a vital role in the pathogenesis of fibrogenesis around the extrahepatic bile duct in BA.

A novel technique for the treatment of radiation-induced acquired esophageal atresia in patients with head and neck cancer

Dysphagia is a common complaint for patients after radiation therapy for head and neck cancer. Chronic dysphagia ensues when the radiation-induced injury matures into a fibrotic stricture, with the severity of symptoms paralleling the degree of stenosis. Most patients experience progressive dysphagia that prompts medical attention before complete esophageal obliteration. Rarely, patients present late with inability to clear their secretions because of complete obstruction, also termed acquired atresia. These patients represent a challenge and require aggressive and unconventional interventions to reestablish lumenal patency. Using a case series, we hereby describe a novel yet simple technique to treat patients with acquired esophageal atresia. Five patients with head and neck cancer in various stages who all underwent nonsurgical treatment with definitive chemotherapy and radiation along with enteral feeding tube placement prior to/during treatment presented with acquired esophageal atresia. All patients underwent an EGD to reestablish lumenal patency. This was accomplished with gentle pressure that was applied in a to-and-fro semi-circular rotational manner as if pushing a corkscrew and twisting it in alternating clockwise and counterclockwise manner. In all cases we were able to reestablish esophageal lumenal patency with a single procedure. There were no adverse events. Four of the 5 patients required additional dilations for symptomatic management. However, all patients' esophageal lumens remained patent. We describe a novel yet simple technique to treat acquired esophageal atresia after radiation for head and neck cancer. This technique allows for generous dilation yielding complete resolution of the stenosis in a single session. When our approach is used, the patient can be discharged home the same day and resume immediate oral intake.

Characteristics of Choanal Atresia in Patients With Congenital Anomalies: A Retrospective Study.

IntroductionChoanal atresia (CA) is an uncommon congenital anomaly. There are various syndromes that are associated with CA. The purpose of this study is to determine the differences in CA's presentation and outcome when associated with other congenital anomalies and syndromes.MethodThis is a retrospective review study of all children (18 years and younger) who underwent CA repair in a tertiary referral healthcare center from January 2005 to April 2022. Demographics, comorbidities, radiological testing, operative reports, and outpatient reports were collected. Success was determined as a child with bilateral patent choana that is able to breathe from both nostrils comfortably.ResultTwenty-four patients met the criteria for inclusion in this study. Bilateral CA was present in 15 (62.5%) patients. Mixed CA was the most common variant. There were various congenital anomalies in association with CA patients who are yet to be classified into a syndrome. The most common congenital anomaly was cleft lip and palate. Bony and mixed types were significantly associated with non-syndromic patients (p<0.05). Twenty patients (83%) were diagnosed with CA at age of less than one year, and four patients were diagnosed after one year of age. There were 36 surgeries performed on 24 patients, of which 27 were endoscopic and nine were using Hugher dilator. The overall success rate for CA repair was 50%. The median number of revisions per patient was 0.5.ConclusionCA is a challenging anomaly to repair. There are various factors that influence the outcome of children with CA. Otolaryngologists should counsel the patient and their families regarding possible need for revision especially in those with other craniofacial anomalies.

HIF-1alpha-pathway activation in cholangiocytes of patients with biliary atresia: An immunohistochemical/molecular exploratory study

BackgroundBiliary atresia is a neonatal disease characterized by choledochal obstruction and progressive cholangiopathy requiring liver transplantation in most patients. Hypoxia-ischemia affecting the biliary epithelium may lead to biliary obstruction. We hypothesized that ischemic cholangiopathy involving disruption of the peribiliary vascular plexus could act as a triggering event in biliary atresia pathogenesis. MethodsLiver and porta hepatis paraffin-embedded samples of patients with biliary atresia or intrahepatic neonatal cholestasis (controls) were immunohistochemically evaluated for HIF-1alpha-nuclear signals. Frozen histological samples were analyzed for gene expression in molecular profiles associated with hypoxia-ischemia. Prospective clinical-laboratory and histopathological data of biliary atresia patients and controls were reviewed. ResultsImmunohistochemical HIF-1alpha signals localized to cholangiocytes were detected exclusively in liver specimens from biliary atresia patients. In 37.5% of liver specimens, HIF-1alpha signals were observed in biliary structures involving progenitor cell niches and peribiliary vascular plexus. HIF-1alpha signals were also detected in biliary remnants of 81.8% of porta hepatis specimens. Increased gene expression of molecules linked to REDOX status, biliary proliferation, and angiogenesis was identified in biliary atresia liver specimens. In addition, there was a trend towards decreased GSR expression levels in the HIF-1alpha-positive group compared to the HIF-1alpha-negative group. ConclusionActivation of the HIF-1alpha pathway may be associated with the pathogenesis of biliary atresia, and additional studies are necessary to confirm the significance of this finding. Ischemic cholangiopathy and REDOX status disturbance are putative explanations for HIF-1alpha activation. These findings may give rise to novel lines of clinical and therapeutic investigation in the BA field.

Development and validation of a novel nomogram and risk score for biliary atresia in patients with cholestasis.

Timely discriminating biliary atresia (BA) from other causes of cholestasis is important but challenging. To develop a useful diagnostic nomogram and a simplified scoring system to diagnosing BA. All medical records of the patients who were consecutively admitted to our institution with cholestasis from March 2016 to December 2020 were retrospectively searched. The patients were allocated to the derivation cohort (n=343) and the validation cohort (n=246). Multivariable logistic regression models were used to construct the nomogram. The nomogram was validated in both cohorts. The simplified risk score was derived from the nomogram. The nomogram was constructed based on presence of clay stool, gallbladder length, gallbladder emptying index, shear wave elastography value, and gamma-glutamyl transferase level. This model showed good calibration and discrimination ability, with the C-index of 0.968 (95% CI: 0.951-0.984). The discriminating ability is most prominent in the 61-90 days group, with AUC of 0.982 (95% CI: 0.955-1.000). The simplified risk score identified most patients with very high or low risk of BA, and was capable of exempting 64.3% non-BA patients from intraoperative cholangiogram procedure. This novel diagnostic nomogram had good discrimination and calibration abilities. The simplified scoring system showed significant clinical utility.

Eosinophilic Esophagitis in Esophageal Atresia: Is It Really a New Disease?

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated esophageal disease. Symptoms are related to mucosal eosinophilic-predominant inflammation that leads to esophageal dysfunction. Recent data suggest that esophageal atresia (EA) patients may have an increased incidence of EoE compared to the general population. As EoE symptoms may be confused with EA-related symptoms, they may significantly worsen morbidity in this specific group of patients. We investigated specific characteristics of patients with AE and EoE compared to those with EoE only. We conducted an observational retrospective monocentric study including all patients diagnosed with EoE from 1 January 2010 to 31 December 2021. For each patient, demographic, clinical and histopathological data were collected and then compared between the two cohorts (EA-EoE vs. EoE only). During the study period, 62 patients were included: 17 children were in the follow-up because of EA (18.1% of 94 EA patients screened in that period), while the other 45 presented EoE only. The demographic and clinical features of EA-EoE patients demonstrate a lower prevalence of allergic subjects (23.5% vs. 80%, p < 0.05), a lower age of presentation (3.1 vs. 12.2 years, p < 0.05), non-specific symptoms and a higher resolution rate with PPI therapy (64.7% vs. 17.8%, p < 0.05) compared to EoE-only patients. Our data confirm that EA patients are at high risk for developing EoE. As symptoms may overlap with the EA spectrum, early recognition of EoE may prevent patients from receiving unnecessary invasive therapeutic interventions and from developing complications from untreated EoE.

Dynamic analysis of serum MMP-7 and its relationship with disease progression in biliary atresia: a multicenter prospective study.

We aimed to assess the dynamic changing trend of serum matrix metalloproteinase-7 (MMP-7) in biliary atresia (BA) patients from diagnosis to LTx to further elucidate its clinical value in diagnosis and prognoses and its relationship with disease progression. In this multicentre prospective study, 440 cholestasis patients (direct bilirubin level of > 17μmol/L) were enrolled. Serum MMP-7 levels were measured using an enzyme-linked immunosorbent assay at diagnosis, 1week, 2weeks, 1month, 6weeks, 2months, 3months, 6months and then every 6months post-KPE. The medical record at each follow-up visit for post-Kasai portoenterostomy patient was collected and analyzed. Using a cut-off value of > 26.73ng/mL, serum MMP-7 had an AUC of 0.954 in BA neonates and 0.983 in BA infants. A genetic mutation (G137D) was associated with low MMP-7 levels in serum of BA patients. MMP-7 showed a mediation effect on the association between inflammation and liver fibrosis in BA patients. Four dynamic patterns of serum MMP-7 post-KPE were associated with prognosis. Serum MMP-7 was the only significant predictor at 6weeks post-KPE and the most accurate predictor at 3months post-KPE of survival with the native liver in 2years. As one of the critical factors associated with BA occurrence and progression, serum MMP-7 can be used for early diagnosis of BA and post-KPE MMP-7 level is the earliest prognostic biomarker so far.

Treatments and outcomes of intra-operative portal vein thrombosis in living-donor liver transplantation due to biliary atresia

Pediatric living-donor liver transplantation (LDLT) has become one of the most effective therapies for pediatric end-stage liver diseases. We aim to investigate the risk factors for intra-operative portal vein thrombosis (PVT) and the short- and long-term outcomes in children post LDLT. This was a retrospective analysis from 584 cases of biliary atresia (BA) patients who had undergone LDLT from January 2014 to December 2019 at our hospital. Patients were divided into PVT and non-PVT groups according to the occurrence of PVT during LDLT. The median age of recipients at transplantation was 7.22 (quartiles, 6.03, 9.50) months, the incidence of intra-operative PVT was 5.31% (31/584). The independent risk factors for intra-operative PVT were the diameter of the recipient's PV not greater than 4mm and a higher ratio of graft-to-recipient PV diameter. The cumulative survival rates of grafts and recipients were 93.5% and 93.5% in the PVT group, and 94.9% and 95.3% in the non-PVT group, respectively, without significant difference. The recovery of graft function was similar in recipients with or without interposed graft vessel (IGV). However, the incidence of PV stenosis was higher in recipients with IGV after LDLT. Intra-operative PVT is a common complication in pediatric LDLT, but an excellent prognosis can be achieved by appropriate and individualized surgical treatment. We noted that intra-operative PVT did not affect the survival rates of grafts and recipients, but there was a higher incidence of PV complications after LDLT. Ⅲ.

Management of Gastroesophageal Reflux Disease in Esophageal Atresia Patients: A Cross-Sectional Survey amongst International Clinicians.

Objectives:After surgical repair, up to 70% of esophageal atresia (EA) patients suffer from gastroesophageal reflux disease (GERD). The ESPGHAN/NASPGHAN guidelines on management of gastrointestinal complications in EA patients were published in 2016. Yet, the implementation of recommendations on GERD management remains poor.We aimed to assess GERD management in EA patients in more detail, to identify management inconsistencies, gaps in current knowledge, and future directions for research.Methods:A digital questionnaire on GERD management in EA patients was sent to all members of the ESPGHAN EA working group and members of the International network of esophageal atresia (INoEA).Results:Forty responses were received. Thirty-five (87.5%) clinicians routinely prescribed acid suppressive therapy for 1–24 (median 12) months. A fundoplication was considered by 90.0% of clinicians in case of refractory GERD with persistent symptoms despite maximal acid suppressive therapy and in 92.5% of clinicians in case of GERD with presence of esophagitis on EGD. Half of clinicians referred patients with recurrent strictures or dependence on transpyloric feeds. Up to 25.0% of clinicians also referred all long-gap EA patients for fundoplication, those with long-term need of acid suppressants, recurrent chest infections and feedings difficulties.Conclusions:Respondents’ opinions on the optimal duration for routine acid suppressive therapy and indications for fundoplication in EA patients varied widely. To improve evidence-based care for EA patients, future prospective multicenter outcome studies should compare different diagnostic and treatment regimes for GERD in patients with EA. Complications of therapy should be one of the main outcome measures in such trials.

135 Type 2 Mayer-Rokitansky-Kuster-Hauser syndrome with unicornuate non communicating uterus and cervical hypoplasia: A rare association

Introduction. Faced with primary amenorrhea in a teenage girl with well-developed secondary sexual characteristics, a congenital anatomical defect must be ruled out first. Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) which results from a failure of fusion of the Müllerian ducts in the embryo, resulting in total utero-vaginal agenesis or uterine hypoplasia with partial vaginal atresia in patients with 46, XX karyotype, is a diagnosis to consider.

Total auricular reconstruction concomitant with BONEBRIDGE implantation using a retrosigmoid sinus approach

Background Retrosigmoid sinus (RS) approach was not the dominant choice for BONEBRIDGE implantation. Objective To investigate the efficacy and safety of auricular reconstruction concomitant with BONEBRIDGE implantation using retrosigmoid approach for aural atresia patients. Materials and methods A retrospective analysis was conducted of 15 children (28 ears) who underwent auricular reconstruction using a completely expanded postauricular flap with a skin expander concomitant with retrosigmoid BONEBRIDGE implantation from July 2019 to September 2020. Results All 15 patients healed well and had no bone conduction shift. Average SFT improvement was 27.1 dB HL (p < .001). Comparison between aided and unaided speech recognition rate in quiet and in noise showed significant improvements, respectively (p < .001). After a follow-up of 21-35 months, the hearing results were stable and the aesthetic outcomes were satisfying. Conclusions and significance For patients who undergo auricle reconstruction using expanded postauricular flap, retrosigmoid approach can avoid interfering the flap of reconstructed auricular without increasing the surgical risk or impact the clinical efficacy, and without significantly prolonging the total anesthesia time. The integrated surgical approach is a safe, and convenient option for patients who require simultaneous auricular reconstruction with BONEBRIDGE implantation.

Pediatric Research Challenge, Alignment with the National Research Agenda

Pediatric Research Challenge, Alignment with the National Research Agenda