Endoscopically removed giant submucosal lipoma

Background. Although uncommon, giant submucosal colon lipomas merit attention as they are often presented with dramatic clinical features such as bleeding, acute bowel obstruction, perforation and sometimes may be mistaken for malignancy. There is a great debate in the literature as to how to treat them. Case report. A patient, 67-year old, was admitted to the Clinic due to a constipation over the last several months, increasing abdominal pain mainly localized in the left lower quadrant accompanied by nausea, vomiting and abdominal distension. Physical examination was unremarkable and the results of the detailed laboratory tests and carcinoembryonic antigen remained within normal limits. Colonoscopy revealed a large 10 cm long, and 4 to 5 cm in diameter, mobile lesion in his sigmoid colon. Conventional endoscopic ultrasound revealed 5 cm hyperechoic lesion of the colonic wall. Twenty MHz mini-probe examination showed that lesion was limited to the submucosa. Since polyp appeared too large for a single transaction, it was removed piecemeal. Once the largest portion of the polyp has been resected, it was relatively easy to place the opened snare loop around portions of the residual polyp. Endoscopic resection was carried out safely without complications. Histological examination revealed the common typical histological features of lipoma elsewhere. The patient remained stable and eventually discharged home. Four weeks later he suffered no recurrent symptoms. Conclusion. Colonic lipomas can be endoscopically removed safely eliminating unnecessary surgery

Twisted Nanotubes of Transition Metal Dichalcogenides with Split Optical Modes for Tunable Radiated Light Resonators

Synthesized micro- and nanotubes composed of transition metal dichalcogenides (TMDCs) such as MoS$_2$ are promising for many applications in nanophotonics, because they combine the abilities to emit strong exciton luminescence and to act as whispering gallery microcavities even at room temperature. In addition to tubes in the form of hollow cylinders, there is an insufficiently-studied class of twisted tubes, the flattened cross section of which rotates along the tube axis. As shown by theoretical analysis, in such nanotubes the interaction of electromagnetic waves excited at opposite sides of the cross section can cause splitting of the whispering gallery modes. By studying micro-photoluminescence spectra measured along individual MoS$_2$ tubes, it has been established that the splitting value, which controls the energies of the split modes, depends exponentially on the aspect ratio of the cross section, which varies in "breathing" tubes, while the relative intensity of the modes in a pair is determined by the angle of rotation of the cross section. These results open up the possibility of creating multifunctional tubular TMDC nanodevices that provide resonant amplification of self-emitting light at adjustable frequencies

Genetic landscape of pediatric acute liver failure of indeterminate origin.

BACKGROUND AIMS Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, main causes are viral infections (12-16%) and inherited metabolic diseases (14-28%). Yet, in up to 50% of cases the underlying etiology remains elusive, challenging clinical management, including liver transplantation. We systematically studied indeterminate PALF cases referred for genetic evaluation by whole-exome sequencing (WES), and analyzed phenotypic and biochemical markers, and the diagnostic yield of WES in this condition. METHODS With this international, multicenter observational study, patients (0-18 y) with indeterminate PALF were analyzed by WES. Data on the clinical and biochemical phenotype were retrieved and systematically analyzed. RESULTS In total, 260 indeterminate PALF patients from 19 countries were recruited between 2011 and 2022, of whom 59 had recurrent PALF (RALF). WES established a genetic diagnosis in 37% of cases (97/260). Diagnostic yield was highest in children with PALF in the first year of life (46%), and in children with RALF (64%). Thirty-six distinct disease genes were identified. Defects in NBAS (n=20), MPV17 (n=8) and DGUOK (n=7) were the most frequent findings. When categorizing, most frequent were mitochondrial diseases (45%), disorders of vesicular trafficking (28%) and cytosolic aminoacyl-tRNA synthetase deficiencies (10%). One-third of patients had a fatal outcome. Fifty-six patients received liver transplants. CONCLUSION This study elucidates a large contribution of genetic causes in PALF of indeterminate origin with an increasing spectrum of disease entities. The high proportion of diagnosed cases and potential treatment implications argue for exome or in future rapid genome sequencing in PALF diagnostics

Cardiac silhouette following a mitral valve replacement, tricuspid annuloplasty and atrioplasty of both atria

Mitral stenosis is a disease almost exclusively due to rheumatic cardit . Mitral stenosis is a "Diastolic event". Basically it is an obstruction of the filling of the left ventricle at a level of a mitral valve. This brings a diastolic atrio-ventricular pressure gradient. Severe mitral stenosis (MVA <1.0cm2) leads to pressure overload of the left atrium with dilatation of it and pulmonary venous hypertension Then comes a secondary pulmonary arterial hypertension, which in turns lead to pressure overload of the right ventricle with right ventricle dysfunction with dilatation and secondary tricuspid regurgitation