Spontaneous pneumoperitoneum associated with colonic pseudo-obstruction

Pneumoperitoneum is almost always pathognomonic of a perforated abdominal viscus requiring urgent surgical intervention. Spontaneous or non-surgical pneumoperitoneum is a rare clinical condition arising secondary to abdominal, thoracic, gynaecologic or idiopathic causes. In addition to good clinical judgement, an important component in the management process is to rule out other causes of pneumoperitoneum by performing appropriate investigations. We describe a 60-year-old man who presented with clinical features of pseudo-obstruction, following an injury to his back which was compounded by hypokalaemia. Roentgenography revealed massive pneumoperitoneum and colonic distension. As there were no overt clinical features of peritonitis, the patient was managed conservatively with parenteral nutrition and close observation. A water-soluble contrast enema and computed tomography of the abdomen were of no help in identifying the cause of his pneumoperitoneum but were helpful in eliminating the presence of hollow viscus perforation or an obvious inflammatory focus. The aetiology of pneumoperitoneum in our patient was most likely due to dissection of air through the distended colonic wall, secondary to large bowel pseudo-obstruction. The diagnosis of spontaneous or non-surgical pneumoperitoneum is one of exclusion and we stress the importance of relying on clinical parameters when managing such patients conservatively

Adherence and Acceptability of Telehealth Appointments for High Risk Obstetrical Patients During the COVID-19 Pandemic.

Background:Telehealth has been successfully implemented for the delivery of obstetrical care. However, little is known regarding the attitudes and acceptability of patients and providers in high risk obstetrics and if implementation improves access to care in non-rural settings. Objective:The study aims to: 1) Describe patient and provider attitudes toward telehealth for delivery of high risk obstetrical care in a large health care system with both urban and suburban settings. 2) Determine if implementation of a telehealth model improves patient adherence to scheduled appointments in this patient population.Study DesignTwo self-administered surveys were designed. The first survey was sent to all high-risk obstetrical patients who received a telehealth visit between March 1, 2020 and May 30, 2020. The second survey was designed for providers who participated in these visits. We also compared the attended, cancelled and no show visit rates before (March 1-May 30, 2019) and after (March 1-May 30, 2020) telehealth implementation, as well as telehealth versus in person visits in 2020. We reviewed scheduled high-risk prenatal care appointments, diabetes education sessions, and genetic counseling and Maternal- Fetal Medicine consultations. Results:A total of 91 patient surveys and 33 provider surveys were analyzed. Overall, 86.9% of patients were satisfied with the care they received and 78.3% would recommend telehealth visits to others. 87.8% of providers reported having a positive experience using telehealth, and 90.9% believed that telehealth improved patients\u27 access to care. When comparing patient and provider preference regarding future obstetrical care after experiencing telehealth, 73.8% of patients desired a combination of in person and telehealth visits during their pregnancy. However, a significantly higher rate of providers preferred in-person visits (56% vs 23% respectively). When comparing visits between 2019 and 2020, there was a significantly lower rate of no-show appointments, patient-cancelled appointments, and patient same-day cancellations with the implementation of telehealth. There was also a significantly lower rate of patient-cancelled appointments, and patient same-day cancellations with those receiving telehealth visits compared to in person visits in 2020. Conclusion:Implementation of telehealth in high risk obstetrics has the potential to improve access to high risk obstetrical care, by reducing the rate of missed appointments. Both patients and providers surveyed expressed a high rate of satisfaction with telehealth visits and a desire to integrate telehealth into the traditional model of high risk obstetrical care

Familial hypercholesterolaemia: identification and management. Evidence reviews for case-finding, diagnosis and statin monotherapy

This guideline covers identifying and managing familial hypercholesterolaemia (FH), a specific type of high cholesterol that runs in the family, in children, young people and adults. It aims to help identify people at increased risk of coronary heart disease as a result of having FH. In November 2017, we reviewed the evidence for case finding and diagnosis, identification using cascade testing, and management using statins. We amended recommendations in sections 1.1, 1.2 and 1.3

A Global Characterization and Identification of Multifunctional Enzymes

Multi-functional enzymes are enzymes that perform multiple physiological functions. Characterization and identification of multi-functional enzymes are critical for communication and cooperation between different functions and pathways within a complex cellular system or between cells. In present study, we collected literature-reported 6,799 multi-functional enzymes and systematically characterized them in structural, functional, and evolutionary aspects. It was found that four physiochemical properties, that is, charge, polarizability, hydrophobicity, and solvent accessibility, are important for characterization of multi-functional enzymes. Accordingly, a combinational model of support vector machine and random forest model was constructed, based on which 6,956 potential novel multi-functional enzymes were successfully identified from the ENZYME database. Moreover, it was observed that multi-functional enzymes are non-evenly distributed in species, and that Bacteria have relatively more multi-functional enzymes than Archaebacteria and Eukaryota. Comparative analysis indicated that the multi-functional enzymes experienced a fluctuation of gene gain and loss during the evolution from S. cerevisiae to H. sapiens. Further pathway analyses indicated that a majority of multi-functional enzymes were well preserved in catalyzing several essential cellular processes, for example, metabolisms of carbohydrates, nucleotides, and amino acids. What’s more, a database of known multi-functional enzymes and a server for novel multi-functional enzyme prediction were also constructed for free access at http://bioinf.xmu.edu.cn/databases/MFEs/index.htm

The brown adipocyte protein CIDEA promotes lipid droplet fusion via a phosphatidic acid-binding amphipathic helix

Maintenance of energy homeostasis depends on the highly regulated storage and release of triacylglycerol primarily in adipose tissue, and excessive storage is a feature of common metabolic disorders. CIDEA is a lipid droplet (LD)-protein enriched in brown adipocytes promoting the enlargement of LDs, which are dynamic, ubiquitous organelles specialized for storing neutral lipids. We demonstrate an essential role in this process for an amphipathic helix in CIDEA, which facilitates embedding in the LD phospholipid monolayer and binds phosphatidic acid (PA). LD pairs are docked by CIDEA trans-complexes through contributions of the N-terminal domain and a C-terminal dimerization region. These complexes, enriched at the LD–LD contact site, interact with the cone-shaped phospholipid PA and likely increase phospholipid barrier permeability, promoting LD fusion by transference of lipids. This physiological process is essential in adipocyte differentiation as well as serving to facilitate the tight coupling of lipolysis and lipogenesis in activated brown fat

Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease

Genome wide association studies (GWAS) and their replications that have associated DNA variants with myocardial infarction (MI) and/or coronary artery disease (CAD) are predominantly based on populations of European or Eastern Asian descent. Replication of the most significantly associated polymorphisms in multiple populations with distinctive genetic backgrounds and lifestyles is crucial to the understanding of the pathophysiology of a multifactorial disease like CAD. We have used our Lebanese cohort to perform a replication study of nine previously identified CAD/MI susceptibility loci (LTA, CDKN2A-CDKN2B, CELSR2-PSRC1-SORT1, CXCL12, MTHFD1L, WDR12, PCSK9, SH2B3, and SLC22A3), and 88 genes in related phenotypes. The study was conducted on 2,002 patients with detailed demographic, clinical characteristics, and cardiac catheterization results. One marker, rs6922269, in MTHFD1L was significantly protective against MI (OR = 0.68, p = 0.0035), while the variant rs4977574 in CDKN2A-CDKN2B was significantly associated with MI (OR = 1.33, p = 0.0086). Associations were detected after adjustment for family history of CAD, gender, hypertension, hyperlipidemia, diabetes, and smoking. The parallel study of 88 previously published genes in related phenotypes encompassed 20,225 markers, three quarters of which with imputed genotypes The study was based on our genome-wide genotype data set, with imputation across the whole genome to HapMap II release 22 using HapMap CEU population as a reference. Analysis was conducted on both the genotyped and imputed variants in the 88 regions covering selected genes. This approach replicated HNRNPA3P1-CXCL12 association with CAD and identified new significant associations of CDKAL1, ST6GAL1, and PTPRD with CAD. Our study provides evidence for the importance of the multifactorial aspect of CAD/MI and describes genes predisposing to their etiology