Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.

Lopes−Maciel−Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to achieve a definitive molecular diagnosis of the disorder. All NGS-identified variants underwent the Sanger confirmation. In addition, a literature review on genetic variations in the HTT gene was conducted. The paper reports a case of LOMARS in a pediatric patient in Russia. A preterm girl of non-consanguineous parents demonstrated severe psychomotor developmental delays in her first 12 months. By the age of 6 years, she failed to develop speech but was able to understand everyday phrases and perform simple commands. Autism-like behaviors, stereotypies, and bruxism were noted during the examination. WES revealed two undescribed variants of unknown clinical significance in the HTT gene, presumably associated with the patient's phenotype (c.2350C>T and c.8440C>A). Medical re-examination of parents revealed that the patient inherited these variants from her father and mother. Lopes−Maciel−Rodan syndrome was diagnosed based on overlapping clinical findings and the follow-up genetic examination of parents. Our finding expands the number of reported LOMARS cases and provides new insights into the genetic basis of the disease.

Severe complications of chronic cholelithiasis treatment.

BACKGROUND: Gallstone disease is a burden affecting about 15% percent of the population around the world. The complications of gallstone disease are numerous and many require emergency care. Severe complications are not uncommon and require special attention, as lethal outcome is possible. CASE PRESENTATION: We present a retrospective analysis of eight cases describing severe complications of gallstones in patients undergoing endoscopic treatment of chronic gallstones conditions. All patients were admitted to our emergency care department following symptoms onset. The diagnostic difficulties, treatment strategies and outcomes are presented. The associated risk factors and preventative measures are discussed. Two patients developed profuse bleeding, two developed acute pancreatitis, two patients had perforation related complications. One rare case of bilioma and one case of iatrogenic injury are presented. All patients had severe condition, in two cases lethal outcome was a result of co-morbidity and difficulties in management. CONCLUSION: Special care should be taken in patients with risk factors of severe complications in order to improve outcome and prevent the development of life-threatening conditions.

Bladder Cancer: Update on Risk Factors, Molecular and Ultrastructural Patterns.

OBJECTIVE: The molecular mechanisms of bladder cancer development and progression are not clear. Bladder cancer is an important focus for epidemiological studies and understanding clinical implications. GOAL: The primary aim of prevention is achieved by limiting exposure to non-genetic risk factors, such as smoking, diet, arsenic in drinking water, or aromatic amines at work or elsewhere. Current therapies for bladder cancer are affected by tumor morphology and associated acquired genetic mutations. METHODS: A literature search was performed using PubMed, Scopus, ResearchGate, Google, MEDLINE, and ScienceDirect databases to find studies of bladder cancer published between 1984 and early 2020. The focus was articles that address epidemiological risk factors and underlying pathophysiological mechanisms. Articles were selected that enabled our review of these factors as well as molecular and structural patterns. RESULTS: There are multiple views of bladder cancer. The literature offers several novel insights regarding the development and progression of bladder cancer and possible biomarkers that may be useful in clinical and diagnostic practice. CONCLUSION: There are several molecular pathways associated with bladder cancer that are frequently updated. In addition, genetic subtypes of bladder tumors are not distinguished clearly which requires future more detailed analysis.

Colorectal Serrated Lesions: A Current View on Clinical, Morphological, Molecular, and Genetic Diagnostic Criteria.

OBJECTIVE: Serrated colorectal lesions are a group of colonic lesions with a serrated (saw-tooth) profile of the surface epithelium and crypts, and peculiar molecular and genetic developmental mechanisms that are incompletely understood. These formations cause concern due to their premalignant potential. AIM: The review is dedicated to serrated lesions of colon and appendix. We focused on modern classification, role in carcinogenesis, as well as new approaches to morphological diagnosis. METHODS: A literature search was performed using PubMed, Scopus, ResearchGate, Google, MEDLINE, and ScienceDirect databases to find studies of serrated colorectal lesions related cancer published between 2000 and 2020 that address epidemiological risk factors, underlying pathophysiological mechanism and enable our review of these factors as well as molecular, genetics, and structural patterns. RESULTS: Serrated colorectal lesions take one third of all benign neoplasms of the colon in the pathologist's practice. The active study of serrated lesions began in the 1900s. Terminology and diagnostic criteria changed in the updated classification in 2019. Morphological criteria, immunohistochemical and molecular profile, endoscopic and clinical characteristics are reviewed. CONCLUSION: Although significant efforts were made in attempt to improve our understanding and diagnostic criteria of serrated polyps of colorectum, very little has changed since the original morphologic description of preneoplastic serrated lesions in early 2000s. There remains a need for more research in order to develop more definitive immuophenotypic and molecular biomarkers in order to distinguish between non-neoplastic and neoplastic serrated lesions.