Better functional outcomes and QOL were observed in a short period after stoma closure, but at 6 months of follow-up, the only benefit of side-to-end anastomosis was a lower number of bowel movements.
Abdominoperineal resection (APR) remains the standard procedure for rectal cancer located within 0.5 cm from dentate line (DL). In this study, we present a new type of restorative surgery: intersphincteric resection with partial removal of external anal sphincter (EAS) and anorectal reconstruction for-ultra low rectal cancer. Between March 2003 and May 2008 fifty patients (28 males, aged between 39 and 71) were operated on for ultra low rectal cancer uT2-3N0M0 with partial preservation of EAS and total anorectal reconstruction (smooth-muscle neosphincter and colonic pouch). A protective stoma was performed in all cases. Functional outcome and quality of life were recorded at 3, 6, 12, 18, 24 months after stoma closure using Wexner score and FIQL respectively. Anal manometry, vectrum volumetry and myography data were taken as well. Results. Postoperative complications developed in 2 patients, but no secondary surgery was required. Carcinomas were staged as pT2 (n = 14) and pT3 (n = 36). The distal clearance was 2.00.4 (range 1.5-2.8) cm, lateral clearance was 0.80.3 (range 0.2-1.4) cm. After a median follow-up of 24 (range 2-61) months, 2 local recurrences were occurred and salvaged by APR. Contractive activity of saved elements of EAS improved with a course of time and squeezing anal pressure increased as well. Perfect functional outcome was achieved in 25 of 34 patients at 12 months after stoma closure, and all the patients were satisfied with procedure. Good functional results of suggested surgery seems to be an acceptable alternative to APR with permanent stoma in selected patients.
Single-qubit operations in the double-donor structure driven by strongly detuned optical pulses. AbstractWe study theoretically the quantum dynamics of an electron in the singlyionized double-donor structure in the semiconductor host under the influence of two strongly detuned laser pulses. This structure can be used as a charge qubit where the logical states are defined by the lowest two energy states of the remaining valence electron localized around one or another donor. The quantum operations are performed via Raman-like transitions between the localized (qubit) states and the manyfold of states delocalized over the structure. The possibility of realization of arbitrary single-qubit rotations, including the phase gate, the NOT gate, and the Hadamard gate, is demonstrated. The advantages of the off-resonant driving scheme for charge qubit manipulations are discussed in comparison with the resonant scheme proposed earlier.PACS number(s): 03.67. Lx,
Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by the presence of multiple adenomatous polyps in the colon. The main cause of the disease is a germline mutation in the APC gene. Here we report 4 unrelated FAP patients with different large deletions in the APC gene detected by Multiplex Ligation-dependent Probe Amplification (MLPA) method: deletion of exons 7-15, deletion of promoters B, A, and 5'-UTR region and deletion of promoter B (in 2 patients). The deletion of promoters B, A, and 5'-UTR was not described in the literature earlier, so we report it for the first time. In 2 families with promoter B deletion, we could identify the tendency for decreasing the age of disease manifestation in each next generation, in contrast to the previous one. The incidence of large deletions in APC among Russian patients with FAP reached 4.8% and our finding suggests the need to study this gene by MLPA in "no mutation patients" after Sanger s sequencing.
We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond–Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a new deletion of the chromosome 15’s locus with the capture of 82,662,932–84,816,747 bp interval, including the complete sequence of the RPS17 gene. The lack of expediency of studying microsatellite instability in endometrial tumors using standard mononucleotide markers NR21, NR24, NR27, BAT25, BAT26 was demonstrated. The estimated prevalence of patients with combination of Diamond–Blackfan anemia and Lynch syndrome in the world is one per 480 million people.
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