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Purpose:  Because of differences in therapy for first-time perianal abscess, a wide range of recurrences and/or development of fistula-in-ano (RF) rates have been reported. The indication for determining when surgical intervention is needed remains obscure and controversial. This retrospective study sought to compare outcomes of conservative treatment with those after incision and drainage (ID) to determine the optimal time for surgical intervention.Methods:  A total of 697 patients with first-time perianal abscess were included in this study. The median patient age at the time of onset was 129 days (range: 5-5,110 days). The median follow-up period was 395 days (range: 120-760 days).Results:  Of the 697 patients with first-time perianal abscess, 355 (50.9%) patients who received conservative treatment had 12.7% (45/355) RF rate, which is less than that of abscesses treated with ID (24.6%, 72/297; p < 0.001). The median course was 23 (2,466) days, which did not differ significantly from that of abscesses with ID (18 [3,510] days) (p = 0.609). Forty-six (6.6%) patients with abscesses that perforated spontaneously had 10.9% (5/46) RF rate, which was less than that of abscesses with ID (p = 0.019), and the median course was 9 (3,316) days, which was shorter than that of abscesses with ID (p = 0.04).Conclusion:  Conservative treatment is a safe and effective technique for most first-time perianal abscesses with less recurrence and a lower fistula formation rate. Incision must be performed when an abscess is likely to spread or shows no sign of spontaneous perforation. [ABSTRACT FROM AUTHOR]

Purpose The aim of this article is to differentiate neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) from biliary atresia (BA) by total hexose. Methods A total of 11 patients with NICCD, 29 patients with BA, and 4,898 children as controls were involved in this study. The blood concentration of amino acids, carnitine, acylcarnitines, and total hexose were measured in dry blood spots (DBS) using tandem mass spectrometry (MS/MS). Results In the patients with NICCD, the blood concentration of the total hexose (15.3 ± 9.0 mmol/L vs. 7.3 ± 2.7 mmol/L; p < 0.001), citrulline (Cit) (197.9 ± 93.7 µmol/L vs. 17.5 ± 7.4 µmol/L; p < 0.001) were higher than those of patients with BA. Using total hexose (> 10 mmol/L), Cit (> 55 µmol/L) to diagnose NICCD, the sensitivity and specificity were 66.7 and 97.8% and 90.0 and 99.1%, respectively, and all of the areas under the receiver-operating characteristic curves were greater than 0.85. Conclusion Elevated total hexose in DBS measured by MS/MS associated with elevated amino acids, especially Cit can be used to diagnose NICCD and differentiate it from BA. [ABSTRACT FROM AUTHOR]

This study intended to gain new insight into the genetic basis underlying ganglioneuroma (GN), ganglioneuroblastoma (GNB), and neuroblastoma (NB). Three fresh-frozen surgically resected tumor tissues (GN1, GNB1, and NB1) and matched blood samples (GN2, GNB2, and NB2) were respectively obtained from three pediatric patients with GN, GNB, and NB. After exome sequencing, we predicted the somatic single nucleotide variants (SNV) and insertion and deletion (InDel), and screened the predisposing genes. Finally, we detected and filtered the fusion gene using Fusionmap. Exome sequencing identified 815, 985, and 884 somatic SNV, and 56, 43, and 34 InDel for GN, NB, and GNB respectively. Total 29, 19 and 37 predisposing genes were identified from GN, GNB and NB samples, such as PIK3CA (GN), MUC4 (GN), PML (NB), TFR2 (GNB), and MAX (GNB). Additionally, four common fusion genes, such as HOXD11-AGAP3 and SAMD1-CDC42EP5, were identified from three tumor samples. Moreover, SAMD1-CDC42EP5 was also a common fusion position in three blood samples. These previously unrecognized predisposing genes, such as PIK3CA, MUC4, PML, TFR2 and MAX, and fusion genes, like HOXD11-AGAP3, and SAMD1-CDC42EP5 may have the potential to impact the progression and development of neuroblastic tumors.

Purpose:  Because of differences in therapy for first-time perianal abscess, a wide range of recurrences and/or development of fistula-in-ano (RF) rates have been reported. The indication for determining when surgical intervention is needed remains obscure and controversial. This retrospective study sought to compare outcomes of conservative treatment with those after incision and drainage (ID) to determine the optimal time for surgical intervention., Methods:  A total of 697 patients with first-time perianal abscess were included in this study. The median patient age at the time of onset was 129 days (range: 5-5,110 days). The median follow-up period was 395 days (range: 120-760 days)., Results:  Of the 697 patients with first-time perianal abscess, 355 (50.9%) patients who received conservative treatment had 12.7% (45/355) RF rate, which is less than that of abscesses treated with ID (24.6%, 72/297; p  < 0.001). The median course was 23 (2,466) days, which did not differ significantly from that of abscesses with ID (18 [3,510] days) ( p  = 0.609). Forty-six (6.6%) patients with abscesses that perforated spontaneously had 10.9% (5/46) RF rate, which was less than that of abscesses with ID ( p  = 0.019), and the median course was 9 (3,316) days, which was shorter than that of abscesses with ID ( p  = 0.04)., Conclusion:  Conservative treatment is a safe and effective technique for most first-time perianal abscesses with less recurrence and a lower fistula formation rate. Incision must be performed when an abscess is likely to spread or shows no sign of spontaneous perforation., Competing Interests: None., (Georg Thieme Verlag KG Stuttgart · New York.)