Short- and mid-term results of diode laser treatment in pilonidal sinus disease and the role of endoscopic camera use on outcomes.

PURPOSE: Nowadays, surgical treatment of pilonidal sinus disease (PSD) with novel techniques is a topic of interest since conventional methods are associated with longer return to daily life and higher complication and recurrence rates. Recently, use of laser as a minimally invasive approach has become popular in the surgical treatment of PSD. In this study, we analyze the short- and mid-term results after laser treatment and the effect of endoscopic camera use on outcomes. METHODS: A total of 106 patients with PSD who underwent laser treatment between November 2017 and September 2021 were included in this study. All patients were treated with a 1470-nm diode laser. Endoscopic camera was used in 73 patients and results of these were compared with those in whom camera was not used. Follow-up period was determined as a minimum of 1 year. Data were analyzed retrospectively. RESULTS: There were 80 (75%) male and 26 female patients. The median age was 26 (range 13-50) years. On the first postoperative day, 26 (26.5%) patients did not have any pain and 42(42.8%) patients reported low-grade pain. The mean time to return to daily life was 4.5 ± 5.5 (median 2, range 1-30) days. The complication rate was 10.4%. Eighty-six (87.8%) patients completely recovered and the mean complete recovery time was 27.4 ± 15.9 days. The patient satisfaction rate was 99.0%. The recurrence rate was 11.0%. Neither history of previous surgery nor abscess was associated with recurrence. Use of an endoscopic camera had no effect on postoperative pain, complete recovery, complications, patient satisfaction, and recurrence (p < 0.05). CONCLUSION: Laser treatment for PSD is a promising approach with the advantages of less postoperative pain, early return to daily life, high patient satisfaction, and acceptable complication and recurrence rates. Nevertheless, further studies are needed to investigate the role of endoscopic camera use in this procedure since its possible advantages could not be clarified.

Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.

BACKGROUND AND STUDY AIMS: Wilson disease (WD) is an autosomal recessive disorder, caused by defects in copper-transporting P-type adenosine triphosphatase (ATPase) encoded by the ATP7B gene, resulting in the deposition of copper in the liver and brain with significant disability or death if left untreated. An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early. The objective of this study was to determine the frequency of the most common European mutation (p.H1069Q) in Egyptian children with WD, in addition to screening for previously reported mutations in the Egyptian patients in our selected group. PATIENTS AND METHODS: Direct DNA sequencing was applied to exons (13, 14, 18, and 19) of the ATP7B gene for 19 patients previously diagnosed with WD. Then DNA sequencing and pedigree analysis were performed in the families of the patients showing variations in their results for the purpose of family screening and carrier detection. Six out of 19 patients were studied with their families (three families). RESULTS: We identified five variants of which two were novel among the studied patients. One of the novel variants was synonymous substitution (p.A1074A) in 16% of patients and the other was predicted to be missense disease-causing mutations (p.T1076I) in 16% of patients, and three previously published mutations p.H1069Q were detected in 5% of patients, p.P1273Q in 10% of patients, and a silent variant p.A1003A in 26% of patients. CONCLUSION: Screening for the two exons 14 and 18 of the ATP7B gene is important in Egyptian patients especially in suspected patients without hepatic manifestations.