Management of lower urinary tract fibroepithelial polyps in children

IntroductionFibroepithelial polyps (FEP) of the lower urinary tract are relatively common in adults but rare in children, with fewer than 250 cases reported in the literature to date.ObjectiveThe aim of this study was to address the experience of FEP management in children.Study designA retrospective multicenter review was undertaken in children with defined FEP of the lower urinary tract managed between 2008 and 2018. The data at 18 pediatric surgery centers were collected. Their demographic, radiological, surgical, and pathological information were reviewed.ResultsA total of 33 children (26 boys; 7 girls) were treated for FEP of the lower urinary tract at 13 centers. The most common presentation was urinary outflow as hematuria (41%), acute urinary retention (25%), dysuria (19%), or urinary infections (28%). A prenatal diagnosis was made for three patients with hydronephrosis. Almost all of the children (94%) underwent ultrasound imaging of the urinary tract as the first diagnostic examination, 23 (70%) of them also either had an MRI (15%), cystourethrography (25%), computerized tomography (6%), or cystoscopy (45%). Two of these children (6%) had a biopsy prior to the surgery. The median preoperative delay was 7.52 (range: 1–48) months. Most of the patients were treated endoscopically, although four (12.1%) had open surgery and two (6.1%) had an additional incision for specimen extraction. The median hospital stay was 1.5 (range: 1–10) days. There were no recurrences and no complications after a median follow-up of 13 (range: 1–34) months.DiscussionThe main limitation of our study is the retrospective design, although it is the largest one for this pathology.ConclusionThis series supports sonography as the most suitable diagnosis tool before endoscopy to confirm the diagnosis and to perform the resection for most FEP in children. This report confirms the recognized benign nature in the absence of recurrences.Level of EvidenceLevel V.     

Influence of birth weight on primary surgical management of newborns with esophageal atresia

BackgroundTo determine if birth-weight (BW) influences primary surgical management of newborns undergoing operation for esophageal atresia and tracheo-esophageal fistula (EA-TEF).MethodsNewborns undergoing repair of esophageal atresia at a single specialist centre between 1999 and 2017 were categorised into three groups based on BW; Group A < 1.5 kg, Group B <2.5 kg and Group C >2.5 kg. Outcome data analysed were (i) technical ability of the surgeon to perform primary esophageal anastomosis, (ii) anastomotic leak, (iii) anastomotic stricture, (iv) esophageal replacement, (v) need for other procedures notably fundoplication, aortopexy, tracheostomy and (vi) mortality. Statistical analysis was performed using a two-tailed Fisher's exact test and logistic regression.Results198 patients underwent surgery for EA-TEF during the study period, Group A (n = 13), Group B (n = 73) and Group C (n = 112). Inability to perform a primary anastomosis was significantly higher in Group A vs Group B (p = 0.003) and Group C (p = 0.004). Birthweight was a significant variable in the ability to perform a primary esophageal anastomosis (OR 1.009, p = 0.004). Mortality rate was significantly higher in Group A vs Group C (P = 0.0158).ConclusionsVery low birth weight infants are less likely to achieve a definitive primary anastomosis during emergent repair of esophageal atresia, and have a higher mortality.     

Reassessing the role of surgery in the elderly or chronically sick with proximal extrahepatic cholangiocarcinoma

BackgroundMost data on postoperative outcomes among patients with proximal extrahepatic cholangiocarcinoma are reported by single institutions. The purpose of this study was to analyze postoperative outcomes stratified by age and comorbidities.MethodsPatients with proximal extrahepatic cholangiocarcinoma who underwent a resection were identified in the National Cancer Database. Pathologic, postoperative, and survival outcomes were compared based on age and Charlson-Deyo comorbidity index.ResultsAmong the 1,579 patients, the average age was 66 years, and 9.4% of patients were older than 80 years. Most patients had a Charlson-Deyo score of 0 (72.4%), with the minority having scores of 1 (20.5%) or ≥2 (7.1%). Patients ≥80 years had a higher 90-day mortality rate compared with patients 65 to 79 and <65 years (21.3% vs 12.0% vs 7.4%, P < .001). Patients with a Charlson-Deyo score ≥2 had longer duration of stay, greater likelihood of requiring an unplanned readmission, and a higher 90-day mortality rate compared with patients with a lower comorbidity index. Median survival of patients <65, 65 to 79, and ≥80 years was 31, 24, and 17 months, respectively. A similar trend was seen with increasing Charlson-Deyo score (0: 27 months, 1: 25 months, ≥2: 20 months). On multivariable analysis, age ≥80 years (hazard ratio = 1.52, P = .01) and Charlson-Deyo score ≥2 (hazard ratio = 1.45, P = .01) were associated with poor survival.ConclusionIn patients with proximal extrahepatic cholangiocarcinoma, age ≥80 years and greater comorbidity index are associated with increased risk of 90-day mortality and poor overall survival. This suggests that resections in high-risk patient populations should be approached with caution.     

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

Inactivating mutations in human ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) may result in early-onset osteoporosis (EOOP) in haploinsufficiency and autosomal recessive hypophosphatemic rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the rachitic phenotype, but elevating plasma phosphorus concentrations in ARHR2 patients may increase the risk of ectopic calcification without increasing bone mass. To assess the risks and efficacy of conventional ARHR2 therapy, we performed comprehensive evaluations of ARHR2 patients at two academic medical centers and compared their skeletal and renal phenotypes with ENPP1-deficient Enpp1^asj/asj mice on an acceleration diet containing high phosphate treated with recombinant murine Enpp1-Fc. ARHR2 patients treated with conventional therapy demonstrated improvements in rickets, but all adults and one adolescent analyzed continued to exhibit low bone mineral density (BMD). In addition, conventional therapy was associated with the development of medullary nephrocalcinosis in half of the treated patients. Similar to Enpp1^asj/asj mice on normal chow and to patients with mono- and biallelic ENPP1 mutations, 5-week-old Enpp1^asj/asj mice on the high-phosphate diet exhibited lower trabecular bone mass, reduced cortical bone mass, and greater bone fragility. Treating the Enpp1^asj/asj mice with recombinant Enpp1-Fc protein between weeks 2 and 5 normalized trabecular bone mass, normalized or improved bone biomechanical properties, and prevented the development of nephrocalcinosis and renal failure. The data suggest that conventional ARHR2 therapy does not address low BMD inherent in ENPP1 deficiency, and that ENPP1 enzyme replacement may be effective for correcting low bone mass in ARHR2 patients without increasing the risk of nephrocalcinosis. © 2021 American Society for Bone and Mineral Research (ASBMR).     

Overview and update on molecular testing in non-small cell lung carcinoma utilizing endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) samples

Lung carcinoma remains one of the most frequent and aggressive human neoplasms. Fortunately, in the last decades, the increasing knowledge of the molecular mechanisms leading to cancer development has allowed the use of targeted therapies with improvement of prognosis in many patients. Clinical management has also changed after the introduction of endobronchialultrasonographic bronchoscopy that allows a conservative staging of lung tumors, avoiding the need of mediastinoscopy for lymph node staging. Lung pathologists and cytopathologists are facing the challenge of giving the more comprehensive prognostic and predictive information with ever smaller tissue or cytological samples. The aim of this review is to summarize the molecular testing for non-small cell lung carcinoma and how pathologists can contribute to the patient's outcome with a conscious management of biological samples.     

Brief report: Comorbid psychiatric disorders of autistic disorder

Conclusion The behavioral and/or psychiatric symptoms in autistic people as described above have been viewed by many professionals dealing with autistic populations as associated features of autism that may result from these individuals' inability to cope with the environmental demands and physical discomfort. Traditionally, in treating individuals with autism, special education intervention including behavioral modifications has been the main emphasis. Such an approach has made some progress in milder and uncomplicated cases of autism. However, if many of these behavioral and/or psychiatric symptoms in those with more severe associated features can be viewed as symptoms of various comorbid psychiatric disorders, there are data suggesting that with an appropriate evaluation, predrug workups, a specific diagnosis, and multiple measures of outcome, pharmacotherapy can be a safe and efficacious adjunct treatment for some symptoms in autistic persons. Nevertheless, the data presented here were obtained mainly from autistic children. A great deal of work remains to be done Future research should put more emphasis on developing agreeable, reliable, and valid diagnostic instruments for identifying comorbid psychiatric disorders in autistic people. Future research should also emphasize employing a randomized double-blind placebo-controlled crossover design, as well as involving multicenters and using uniformed diagnostic criteria to study autistic adolescents and adults.