Leber’s hereditary optic neuropathy (LHON) is a maternally inherited disorder that affects central vision in young adults and is typically associated with mitochondrial DNA (mtDNA) mutations. This study is based on a mutational screening of entire mtDNA in eight Serbian probands clinically and genetically diagnosed with LHON and four of their family members, who are asymptomatic mutation carriers. All obtained sequence variants were compared to human mtDNA databases, and their potential pathogenic characteristics were assessed by bioinformatics tools. Mitochondrial haplogroup analysis was performed by MITOMASTER. Our study revealed two well-known primary LHON mutations, m.11778G>A and m.3460G>A, and one rare LHON mutation, m.8836A>G. Various secondary mutations were detected in association with the primary mutations. MITOMASTER analysis showed that the two well-known primary mutations belong to the R haplogroup, while the rare LHON m.8836A>G was detected within the N1b haplogroup. Our results support the need for further studies of genetic background and its role in the penetrance and severity of LHON.

Background: The global shift from open esophagectomy (OE) to minimally invasive esophagectomy (MIE) for treating esophageal cancer is well-established. Recent data indicate that transitioning from hybrid minimally invasive esophagectomy (hMIE) to total minimally invasive esophagectomy (tMIE) can be challenging due to concerns about higher leakage rates and lower lymph node counts, especially at the beginning of the learning curve. This study aimed to demonstrate that a safe transition from OE to tMIE for cancer is possible using process management methodology. Methods: A step-change approach was adopted in process management planning, with hMIE serving as an intermediate step between OE and tMIE. This single-center, case–control study included 150 patients who underwent the Ivor Lewis procedure with curative intent for esophageal cancer. Among these patients, 50 underwent OE, 50 hMIE (laparoscopic procedure followed by conventional right thoracotomy), and 50 tMIE (laparoscopic and thoracoscopic approach). A preceptored training scheme was implemented during execution, and treatment results were monitored and controlled to ensure a safe transition. Results: During the transition, the tMIE group was not worse than the hMIE and OE groups regarding operation duration (p = 0.135), overall postoperative complications (p = 0.020), anastomotic leakage rates (p = 0.773), 30-day mortality (p = 1.0), and oncological outcomes (based on R status (p = 0.628) and 2-year survival (p = 0.967)). Additionally, the tMIE group showed superior results in terms of major postoperative pulmonary complications (p = 0.004) and ICU stay duration (p < 0.001). Conclusions: Utilizing managerial methodology and practice in surgery, as a bridge between interdisciplinary and transdisciplinary approaches, demonstrated that transitioning from OE to tMIE, with hMIE as an intermediate step, is safe and feasible without compromising outcomes.

Colonic diverticula are very common as asymptomatic findings on endoscopic examination. Diverticulitis as a complication occurs in ~4% of these patients with well-known further complications. Colocutaneous fistulas are very rare and are usually caused by percutaneous drainage procedures of abscess formations or as a complication of the natural disease. We present here a case report of a 70-year-old man who initially presented with signs of sepsis and later developed a colocutaneous fistula in the lumbar region.

Aerodigestive fistulas represent a major challenge in clinical practice. This problem is burdened with severe morbidity and mortality, despite recent advantages in endoscopic endoluminal repair techniques. Special problems are fistulas localized higher, engaging the proximal esophagus and trachea, which in adults most often result from post-intubation injury. Surgery is generally demanding and reserved for the patients in whom other, less invasive options fail. Hereby, we present a case of post-intubation tracheoesophageal fistula, successfully treated with endoscopic vascular plug placement.