Family case of Potocki-Lupski syndrome.

BACKGROUND: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging. CASE PRESENTATION: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region. CONCLUSIONS: Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.

[Diagnosis and surgical treatment of a patient with Castleman disease]. / Diagnostika i khirurgicheskoe lechenie patsienta s bolezn'yu Kastlemana: klinicheskoe nablyudenie.

Castleman disease (CD) is a benign lymphoproliferative disease. Small prevalence and diverse clinical course of disease makes it difficult to standardize diagnostics and treatment. Currently, the number of CD patients has increased with improvement in the quality of examination. Therefore, differential diagnosis of this disease is important. We present a young patient with CD and retroperitoneal non-organ neoplasm. Despite a thorough preoperative examination, the final diagnosis was established only after histological examination of surgical specimen. We discuss the diagnosis and surgical treatment of a patient with unicentric type of CD.

[Difficulties in diagnosis of neuroendocrine tumors of the gastrointestinal tract]. / Trudnosti diagnostiki neiroendokrinnykh opukholei zheludochno-kishechnogo trakta. Klinicheskoe nablyudenie.

We present diagnosis and complex minimally invasive surgical treatment of a patient with long-standing neuroendocrine tumor of the upper gastrointestinal tract. We followed-up a 50-year-old female patient after endoscopic resection of polypoid neoplasm of the stomach for 2 non-organ retroperitoneal neoplasms in the area of hepatogastric ligament. After a comprehensive examination and minimally invasive surgery including laparoscopic resection of retroperitoneal neoplasms, immunohistochemical examination, PET-CT and targeted endoscopic ultrasound of the stomach, we diagnosed a highly differentiated gastric neuroendocrine tumor with metastases into lymph nodes of hepatogastric ligament. Combination of endoscopic and morphological diagnosis with rigorous histological examination of specimen provided correct diagnosis and reasonable strategy of aggressive minimally invasive surgical treatment.

[Genetic diversity of Siberian bovine coronavirus isolates (Coronaviridae: Coronavirinae: Betacoronavirus-1: Bovine-Like coronaviruses)].

INTRODUCTION: Bovine coronaviruses (BCoVs) are causative agents of diarrhea, respiratory diseases in calves and winter cow dysentery. The study of genetic diversity of these viruses is topical issue. The purpose of the research is studying the genetic diversity of BCoV isolates circulating among dairy cattle in Siberia. MATERIALS AND METHODS: Specimens used in this study were collected from animals that died or was forcedly slaughtered before the start of the study. The target for amplification were nucleotide sequences of S and N gene regions. RESULTS: Based on the results of RT-PCR testing, virus genome was present in 16.3% of samples from calves with diarrheal syndrome and in 9.9% with respiratory syndrome. The nucleotide sequences of S gene region were determined for 18 isolates, and N gene sequences - for 12 isolates. Based on S gene, isolates were divided into two clades each containing two subclades. First subclade of first clade (European line) included 11 isolates. Second one included classic strains Quebec and Mebus, strains from Europe, USA and Korea, but none of sequences from this study belonged to this subclade. 6 isolates belonged to first subclade of second clade (American-Asian line). Second subclade (mixed line) included one isolate. N gene sequences formed two clades, one of them included two subclades. First subclade included 3 isolates (American-Asian line), and second subclade (mixed) included one isolate. Second clade (mixed) included 8 sequences. No differences in phylogenetic grouping between intestinal and respiratory isolates, as well as according to their geographic origin were identified. CONCLUSION: The studied population of BCoV isolates is heterogeneous. Nucleotide sequence analysis is a useful tool for studying molecular epidemiology of BCoV. It can be beneficial for choice of vaccines to be used in a particular geographic region.

First record of Trichophyton benhamiae isolated from domestic cats in Russia.

We report a first case of Trichophyton benhamiae isolation from domestic cats in Russia. Genetically affiliated to European strains T. benhamiae were deposited in NCBI. T. benhamiae strains formed zonal cream-colored colonies, with reversum pigmentation ranging from intensive yellow to orange-brown in one and orange-brown to chocolate in the second strain. Mycelium is colorless, hyphae are septated, rapidly aging with the formation of arthrospores and microconidia. The formation of macroconidia was recorded after 48 hours. A favorable outcome of treatment was recorded after two weeks.

[Submucosal tunneling endoscopic resection for large esophageal leiomyoma: technical aspects and risk of complications]. / Endoskopicheskoe udalenie krupnoi leiomiomy pishchevoda metodom tonnel'noi dissektsii: tekhnicheskie osobennosti operatsii i risk vozmozhnykh oslozhnenii.

We analyzed the technical aspects and risk of possible complications after submucosal tunneling endoscopic resection for large esophageal leiomyoma. A patient with a 4-cm non-epithelial esophageal tumor underwent STER procedure in June 2018. Surgery time was 130 min. There were no intraoperative complications. Postoperative period was complicated with mediastinitis with reactive pneumonia and pleural effusion accompanied by episodes of hyperthermia up to 38°C for 5 days. The patient was discharged in 12 days after complete resolution of pneumonia confirmed by chest X-ray. Contrast-enhanced examination after 3 postoperative days revealed no contrast agent leakage outside the esophagus. The previously applied clips were visualized. Endoscopic examination in 3 months after surgery visualized postoperative scar without signs of deformation and narrowing of the esophagus. No complaints were observed throughout 3.5-year follow-up period. CONCLUSION: This report demonstrates the advantages of tunnel dissection ensuring organ-sparing procedure with the best functional result. However, intra- and postoperative complications are possible after STER. The risk of complications and complexity of surgery depend on transverse size (>3.5 cm), shape and localization of tumor. Larger neoplasm is accompanied by more difficult surgery and higher risk of complications. Therefore, adequate selection of patients for STER is essential.

[A rare variant of pancreatic serous cystadenoma]. / Redkii variant seroznoi tsistadenomy podzheludochnoi zhelezy.

The authors present a patient with serous cystadenoma of the pancreatic head. Atypical symptoms and CT data did not allow excluding pancreatic cancer. Thus, pancreaticoduodenectomy was performed.

[Genetic diversity and distribution of bovine pestiviruses (Flaviviridae: Pestivirus) in the world and in the Russian Federation].

The genus Pestivirus of the family Flaviviridae includes 11 species. Bovine pestiviruses are the causative agents of viral diarrhea/mucosal disease and include three genetically distinct species: pestivirus A (BVDV-1), B (BVDV-2), and H (BVDV-3). The number of BVDV-1 subtypes is 21, BVDV-2 - 4, and BVDV-3 - 4, which complicates the diagnosis of associated diseases, reduces the effectiveness of vaccination and control programs.We performed the search in the PubMed, Web of Science, Scopus, eLIBRARY.RU databases for articles published in 2000-2021.Pestivirus A is distributed everywhere, although the largest number of subtypes was found in cattle in Italy and China. The virus is widespread in the Central region of the Russia (subtypes 1a and 1m). In Siberia, eleven subtypes circulate among native and imported animals: 1a (5%), 1b (35%), 1c (5%), 1d (10%), 1f (20%), 1g, 1i (both 2.5%), 1j, 1k, 1p, and 1r (all for 5%). Pestivirus B subtype is more virulent, found less frequently and mainly in the North and South America, in some European countries, and in Asia. Three subtypes have been identified in Siberia: 2a (25%), 2b (10%), and 2c (5%). Pestivirus H circulates in Europe, Asia and South America. The main route of entry is contaminated biological products. In Russia, BVDV-3 of the Italian-Brazilian group (3a) was detected in 7 lots of fetal bovine serum.The role of the virus in the occurrence of respiratory diseases in calves, abortion, systemic infection and enteritis in calves and adult animals has been established. The source of the virus in such cases was a contaminated modified live vaccine.

[Effect of morphological state of pancreatic parenchyma on the long-term outcome of surgery for chronic pancreatitis]. / Vliyanie morfologicheskogo sostoyaniya parenkhimy podzheludochnoi zhelezy na otdalennye rezul'taty khirurgicheskogo lecheniya khronicheskogo pankreatita.

OBJECTIVE: To determine the effect of baseline morphological state of the pancreas on the long-term outcomes of duodenum-preserving pancreatic head resection (DPPHR). MATERIAL AND METHODS: The study included 104 patients with chronic pancreatitis (CP), who underwent DPPHR in 2014-2019. Pain syndrome, exocrine and endocrine pancreatic insufficiency and quality of life (QoL) were assessed in long-term postoperative period. Patients were stratified depending on CT enhancement of pancreatic parenchyma as an indicator of fibrosis and amount of preserved acinar cells in resected pancreatic tissue. RESULTS. S: Ignificant relief of pain syndrome in long-term period was observed in patients with higher density of pancreatic tissue in venous phase of CT compared to delayed phase. Moreover, these patients needed less additional enzyme intake and had higher QoL. Exocrine insufficiency depended on the number of preserved acinar cells. The percentage of preserved acinar cells also affects the QoL of patients with CP. There were no correlations between endocrine insufficiency and CT-findings, as well as the number of preserved acinar cells. CONCLUSION: Higher CT-density of pancreatic parenchyma in venous phase indicates a lesser degree of fibrosis. It is a favorable prognostic factor for postoperative pain relief and preservation of exocrine function. The percentage of preserved acinar cells in the resected pancreatic tissue is a reliable predictor of exocrine insufficiency.

Reproducibility of CT texture features of pancreatic neuroendocrine neoplasms.

PURPOSE: To evaluate the reproducibility of textural features of pancreatic neuroendocrine neoplasms (PNENs), obtained under various CT-scanning conditions. METHODS AND MATERIALS: We included 12 patients with PNENs and 2 contrast enhanced CT (CECT): 1) from our center according to standard CT-protocol; 2) from another institution. Two radiologists independently segmented the entire neoplasm volume using a 3D region of interest by LIFEx application on the arterial phase and then copied it to the other phases. 52 texture features were calculated for each phase. As a criterion for the segmentation consistency, a value of neoplasm volume was compared using the Bland-Altman method. The Kendall concordance coefficient was calculated to assess the texture features reproducibility in three scenarios: 1) different radiologists, same CECT; 2) same radiologist, different CECT; 3) different radiologists, different CECT. RESULTS: For the scenario 1 the neoplasm volumes (except one large PNEN) were found within two standard deviations; this indicates high consistency of the segmentation. For the first scenario, Kendall's coefficient exceeded a threshold of 0.7 for all 52 features for all CT phases. For the second and third scenario, the concordance coefficient exceeded a threshold of 0.7 in 38, 28, 42, 45 and in 36, 25, 36, 44 features for the native, arterial, venous and delayed phases, respectively. CONCLUSION: The highest reproducibility was found in the first scenario compared to the second and third: 100 % vs. 74 % and 67 %. Reproducible texture features can be reliably used to assess the PNENs structure.