Unusual acquired gastric outlet obstruction during infancy: a case report

Acquired gastric outlet obstruction (GOO) during infancy beyond the neonatal period is a very rare condition when other congenital causes like infantile hypertrophic pyloric stenosis, antral diaphragm, pyloric atresia etc are excluded. We report an unusual case of 6 month old male child who presented with recurrent episode of vomiting not relieved by medication. On gastrograffin study there was pre pyloric stricture of unknown etiology and was managed by stricturoplasty. We are reporting this case because of its rarity and with excellent outcome if diagnosed and managed properly. Even on extensive search of English literature we are not able to find a single report of this lesion in infants

Can we improve outcome of congenital diaphragmatic hernia?

This review gives an overview of the disease spectrum of congenital diaphragmatic hernia (CDH). Etiological factors, prenatal predictors of survival, new treatment strategies and long-term morbidity are described. Early recognition of problems and improvement of treatment strategies in CDH patients may increase survival and prevent secondary morbidity. Multidisciplinary healthcare is necessary to improve healthcare for CDH patients. Absence of international therapy guidelines, lack of evidence of many therapeutic modalities and the relative low number of CDH patients calls for cooperation between centers with an expertise in the treatment of CDH patients. The international CDH Euro-Consortium is an example of such a collaborative network, which enhances exchange of knowledge, future research and development of treatment protocols

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo damaging variants but did not identify any recurrently mutated genes. To investigate further the genetics of CDH, we analyzed de novo coding variants in 362 proband-parent trios including 271 new trios reported in this study. We identified four unrelated individuals with damaging de novo variants in MYRF (P = 5.3x10-8), including one likely gene-disrupting (LGD) and three deleterious missense (D-mis) variants. Eight additional individuals with de novo LGD or missense variants were identified from our other genetic studies or from the literature. Common phenotypes of MYRF de novo variant carriers include CDH, congenital heart disease and genitourinary abnormalities, suggesting that it represents a novel syndrome. MYRF is a membrane associated transcriptional factor highly expressed in developing diaphragm and is depleted of LGD variants in the general population. All de novo missense variants aggregated in two functional protein domains. Analyzing the transcriptome of patient-derived diaphragm fibroblast cells suggest that disease associated variants abolish the transcription factor activity. Furthermore, we showed that the remaining genes with damaging variants in CDH significantly overlap with genes implicated in other developmental disorders. Gene expression patterns and patient phenotypes support pleiotropic effects of damaging variants in these genes on CDH and other developmental disorders. Finally, functional enrichment analysis implicates the disruption of regulation of gene expression, kinase activities, intra-cellular signaling, and cytoskeleton organization as pathogenic mechanisms in CDH

The effort and outcomes of the Pediatric Surgery match process: Are we interviewing too many?

Purpose: Increasing numbers of programs participating in the pediatric surgery match has resulted in economic and logistical issues for candidates, General Surgery residencies, and Pediatric Surgery training programs (PSTP). We sought to determine the ideal number of interviews conducted by programs based on resultant rank order lists (ROL) of matched candidates.Methods: PSTPs received 4 online surveys regarding interview practices (2011-2012, 2014), and matched candidate ROL (2008-2010, 2012, 2014). Program directors (PD) also provided estimates regarding minimum candidate interview numbers necessary for an effective match (2011-2012, 2014). Kruskal-Wallis equality-of-populations rank tests compared ROL and interview numbers conducted. Quartile regression predicted ROL based on the interview numbers. Wilcoxon signed rank-sum tests compared the interview numbers to the minimal interview number using a matched pair. p Values\u3c0.05 were significant.Results: Survey response rates ranged from 85-100%. Median ROL of matched candidates (2-3.5) did not differ between programs (p=0.09) and the lowest matched ROL for any year was 10-12. Interview numbers did not affect the final candidate ROL (p=0.22). While PDs thought the minimum median interview number should be 20, the number actually conducted was significantly higher (p\u3c0.001).Conclusion: These data suggest that PSTPs interview excessive numbers of candidates. Programs and applicants should evaluate mechanisms to reduce interviews to limit costs and effort associated with the match

The Effort and Outcomes of the Pediatric Surgery Match Process: Are We Interviewing Too Many?

PURPOSE: Increasing numbers of programs participating in the pediatric surgery match has resulted in economic and logistical issues for candidates, General Surgery residencies, and Pediatric Surgery training programs (PSTP). We sought to determine the ideal number of interviews conducted by programs based on resultant rank order lists (ROL) of matched candidates. METHODS: PSTPs received 4 online surveys regarding interview practices (2011-2012, 2014), and matched candidate ROL (2008-2010, 2012, 2014). Program directors (PD) also provided estimates regarding minimum candidate interview numbers necessary for an effective match (2011-2012, 2014). Kruskal-Wallis equality-of-populations rank tests compared ROL and interview numbers conducted. Quartile regression predicted ROL based on the interview numbers. Wilcoxon signed rank-sum tests compared the interview numbers to the minimal interview number using a matched pair. p Values RESULTS: Survey response rates ranged from 85-100%. Median ROL of matched candidates (2-3.5) did not differ between programs (p=0.09) and the lowest matched ROL for any year was 10-12. Interview numbers did not affect the final candidate ROL (p=0.22). While PDs thought the minimum median interview number should be 20, the number actually conducted was significantly higher (p\u3c0.001). CONCLUSION: These data suggest that PSTPs interview excessive numbers of candidates. Programs and applicants should evaluate mechanisms to reduce interviews to limit costs and effort associated with the match