RESUMO
Williams syndrome was first reported by Williams and Beuren in 1961-1962. It is a genetic disorder that is caused by a sporadic microdeletion of chromosome 7, which includes the elastin gene. The development of gastrointestinal pathology, such as diverticular disease, is associated with the deletion of this specific gene. Almost one-third of patients with Williams syndrome develop diverticular disease. The first episode of diverticulitis appears in 8% of patients, diagnosed with Williams syndrome, before the age of 40. According to the literature, in the case of complicated diverticulitis (Hinchey III) in patients with WS, the treatment is mainly surgical resection of sigmoid and colostomy (Hartmann procedure) or anastomosis. We present an interesting case with a 31-year-old male, with Williams syndrome and Hinchey III diverticulitis, who underwent laparoscopic lavage and primary closure of the perforation. To our knowledge, this is the first case in literature that a patient with Williams syndrome and complicated diverticulitis (Hinchey III) was treated this way and the results until now are encouraging.
RESUMO
Background: B and T regulatory cells, also known as Bregs and Tregs, are involved in kidney transplantation. The purpose of this study is to monitor changes in the frequency and absolute numbers of Tregs (CD3+CD4+CD25+FoxP3+), transitional Bregs (tBregs) (CD24++CD38++), memory Bregs (mBregs) (CD24++CD27+), and plasmablasts before (T0) and six months (T6) after transplantation. Additionally, we aim to investigate any correlation between Tregs and tBregs, mBregs, or plasmablasts and their relationship with graft function. Methods: Flow cytometry was used to immunophenotype cells from 50 kidney recipients who did not experience rejection. Renal function was assessed using the estimated glomerular filtration rate (eGFR). Results: At T6, there was a significant decrease in the frequency of Tregs, plasmablasts, and tBregs, as well as in the absolute number of tBregs. The frequency of mBregs, however, remained unchanged. Graft function was found to have a positive correlation with the frequency of tBregs and plasmablasts. A significant correlation was observed between the frequency and absolute number of tBregs only when the eGFR was greater than 60 but not at lower values. At an eGFR greater than 60, there was a positive correlation between the absolute numbers of Tregs and mBregs but not between Tregs and tBregs. No correlation was observed for any cell population in dialysis patients. Conclusions: The data show a correlation between the frequency and absolute number of tBregs and the absolute number of Tregs and mBregs with good renal function in the early post-transplant period.
RESUMO
Primary mesenteric neuroendocrine tumors represent a rare clinical entity, challenging to manage, while a combination of imaging is demanded in order to differentiate it from metastatic disease, and set the diagnosis. If the tumor is resectable, surgery is the fundament of the therapeutic approach. The appearance of a second primary mesenteric tumor suggests an unacquainted scenario. The current article presents a case of a 40-year-old woman, who underwent laparoscopic excision of a mesenteric tumor located close to the left pararenal space. Pathology with immunohistochemistry examination reported neuroendocrine tumor grade 2. No further treatment was necessary. Seven months later, 68-Gallium DOTATATE detected another primary neuroendocrine tumor located at the right retroperitoneal space without other lesions. The second tumor was also resected laparoscopically, and the pathology confirmed the diagnosis of another neuroendocrine tumor G2. The postoperative course was uneventful, and six months later the patient is disease-free. The adequacy of 68-Gallium DOTATATE for the preoperative diagnosis of primary mesenteric tumors, the role of the laparoscopic approach, and the extent of lymph node resection are matters addressed in this article.
RESUMO
BACKGROUND: B cells have a significant role in transplantation. We examined the distribution of memory subpopulations (MBCs) and naïve B cell (NBCs) phenotypes in patients soon after kidney transplantation. Unsupervised machine learning cluster analysis is used to determine the association between the cellular phenotypes and renal function. METHODS: MBC subpopulations and NBCs from 47 stable renal transplant recipients were characterized by flow cytometry just before (T0) and 6 months after (T6) transplantation. T0 and T6 measurements were compared, and clusters of patients with similar cellular phenotypic profiles at T6 were identified. Two clusters, clusters 1 and 2, were formed, and the glomerular filtration rate was estimated (eGFR) for these clusters. RESULTS: A significant increase in NBC frequency was observed between T0 and T6, with no statistically significant differences in the MBC subpopulations. Cluster 1 was characterized by a predominance of the NBC phenotype with a lower frequency of MBCs, whereas cluster 2 was characterized by a high frequency of MBCs and a lower frequency of NBCs. With regard to eGFR, cluster 1 showed a higher value compared to cluster 2. CONCLUSIONS: Transplanted kidney patients can be stratified into clusters based on the combination of heterogeneity of MBC phenotype, NBCs and eGFR using unsupervised machine learning.
RESUMO
Protein arginine methylation is an extensive and functionally significant post-translational modification. However, little is known about its role in differentiation at the systems level. Using stable isotope labeling by amino acids in cell culture (SILAC) proteomics of whole proteome analysis in proliferating or five-day differentiated mouse C2C12 myoblasts, followed by high-resolution mass spectrometry, biochemical assays, and specific immunoprecipitation of mono- or dimethylated arginine peptides, we identified several protein families that were differentially methylated on arginine. Our study is the first to reveal global changes in the arginine mono- or dimethylation of proteins in proliferating myoblasts and differentiated myocytes and to identify enriched protein domains and novel short linear motifs (SLiMs). Our data may be crucial for dissecting the links between differentiation and cancer growth.
Assuntos
Arginina , Proteoma , Camundongos , Animais , Arginina/metabolismo , Espectrometria de Massas/métodos , Proteoma/análise , Diferenciação Celular , Mioblastos/metabolismo , Marcação por Isótopo/métodosRESUMO
Gastrointestinal duplications can be found in all parts of the gastrointestinal tract. Duplications of the stomach comprise 2-8% of all duplications and are mostly diagnosed during the first year of life. We present a case of a gastric duplication cyst in a 29-year-old female, presenting with epigastric pain and vomiting. Preoperative diagnosis was assumed to be pyloric stenosis. Intraoperatively, a large mass that was attached to the greater curvature was found. Histopathology results were consistent with gastric duplication cyst.