Morganconnell3677
uma.Inflammatory bowel disease (IBD) is a chronic condition that globally affects the health of people who suffer from it, deteriorating their quality of life (QoL). An aspect rarely explored by healthcare providers is the influence of the disease on the sexual functioning of individuals. Linderalactone This discretion is mainly due to an unconscious resistance when asking our patients about their sexual functioning because of a lack of knowledge and skills to tackle this topic or disinterest on the part of professionals, and fear or shame on the part of patients. Sexual function is a constant concern in IBD patients that has been reflected in several studies, especially if we consider that the prevalence of sexual dysfunction (SD) in IBD is higher than that reported in the general population. The etiology of SD in patients with IBD remains unclear but is likely to be multifactorial, where biological, psychosocial, and disease-specific factors are involved. Currently, there are no formal recommendations in the IBD clinical guidelines on how to manage SD in these patients. The use of validated clinical scales could improve the detection of SD and allow the treatment of the underlying causes in order to improve the QoL of patients with IBD. This review aims to illustrate the different aspects involved in SD in IBD patients and the importance of the participation of a multidisciplinary team in the early detection and treatment of SD at different stages of the disease.
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis. In this study, we investigated the clinical presentation and sequenced 26 exons of
gene in a patient with a clinical suspicion of GS.
Clinical work-up including clinical examination, electrocardiography (ECG), chest X-ray, bone mineral density (BMD), and ultrasound examination was conducted and all exons of
gene were analyzed by whole-exome sequencing.
The patient showed hypokalemia, hypomagnesemia, and metabolic alkalosis and was found to have four novel homozygous missense mutations including one known mutation (c.1456 G>A in exon 12) and three novel mutations (c.366A > G in exon 2, c.791C > G in exon 6 and c.1027C > T in exon 8).
Four mutation sites of
gene were found in the patient, three of which have not been reported before. These results may be useful for better understanding the function of this gene and can assist clinicians with treatment decision-making.
Four mutation sites of SLC12A3 gene were found in the patient, three of which have not been reported before. These results may be useful for better understanding the function of this gene and can assist clinicians with treatment decision-making.
To investigate the therapeutic effects of a modified simultaneous unipolar saline-irrigated radiofrequency ablation by intracardiac operation under direct vision in patients with mitral valve diseases combined with atrial fibrillation (AF).
A total of 168 patients with mitral valve diseases combined with AF who underwent unipolar saline-irrigated radiofrequency ablation modified maze procedures were enrolled and divided into the mitral stenosis (MS) group (n = 87) and the mitral insufficiency (MI) group (n = 81).
Those with a left atrium diameter (LAD) < 55 mm had a better cardioversion effect during the mid-term post-operation than those with a LAD ≥ 55 mm (P < 0.05). The cardioversion effect during the mid-term post-operation was better in those with a duration of AF < 2 years than those with AF ≥ 2 years (P < 0.05). The LAD reduced significantly during the early postoperative period in the MS group (P < 0.05). Compared with the early postoperative period, LAD further reduced, and the Ethe radiofrequency ablation by intracardiac operation under direct vision in patients with different mitral valve diseases combined with AF. The cardioversion effects during the early postoperative period and the mid-term post-operation were better in patients with MI than in those with MS.
The renin-angiotensin-aldosterone system (RAAS), a metabolic cascade regulating pressure and circulating blood volume, has been considered the main system involved in the pathogenesis of severe lung injury and organs decline in COVID-19 patients. The angiotensin I-converting enzyme (
), angiotensin-converting enzyme 2 (
), angiotensinogen (AGT) and receptors angiotensin II receptor type 1 (
) are key factors for SARS-CoV-2 entering in the cells, sodium and water retention with an increase blood pressure, promotion of fibrotic and inflammatory phenomena resulting in a cytokine storm.
In this pilot study, the frequencies of six polymorphisms in the
and
genes were analysed in symptomatic patients affected by COVID-19 and compared with the results obtained from asymptomatic subjects.
Thus, we have identified that rs2074192 (
), rs1799752 (
) and rs699 (
) SNPs could potentially be a valuable tool for predicting the clinical outcome of SARS-CoV-2 infected patients. A genetic predisposition may be prospected for severe internal organ damages and poor prognosis in patients with COVID-19 disease, as observed in symptomatic vs asymptomatic.
This study provides evidence that analysis of RAAS polymorphisms could be considered the key point in understanding and predicting the SARS-CoV-2 course infection.
This study provides evidence that analysis of RAAS polymorphisms could be considered the key point in understanding and predicting the SARS-CoV-2 course infection.
Diffuse large B-cell lymphoma (DLBCL) is a genetically heterogeneous disease, which makes prognostic prediction challenging. The rapid development of research on ferroptosis provides the possibility of its use in prognosis in cancer patients. The aim of the current investigation was to perform a systematic study of ferroptosis and DLBCL prognosis to identify prognostic biomarkers in DLBCL.
A total of 884 DLBCL patients from the Gene Expression Omnibus database were included in this study and were divided into a training set and a validation set. Univariate Cox regression analysis was used to investigate relationships between gene expression and prognostic values. Ferroptosis-related genes associated with overall survival in the training set were then extracted, and the least absolute shrinkage and selection operator Cox regression model was used to establish an eight-gene signature, comprising ZEB1, PSAT1, NGB, NFE2L2, LAMP2, HIF1A, FH, and CXCL2.
The signature exhibited significant independent prognostic value in both the training set and the validation set.