Single ventricle with persistent truncus arteriosus as two rare entities in an adult patient: a case report

Abstract Introduction Single ventricle and truncus arteriosus are both rare congenital cardiac syndromes with limited survival. Their occurrence together is extremely uncommon and prolonged survival is exceptionally rare. We present the case of a patient who had both of these defects with survival to age 45. Case presentation We describe the vase of a 45-year-old man with the unusual occurrence of two very rare congenital cardiac defects. He was found to have both truncus arteriosus and single ventricle with long survival. His history, clinical course, and anatomic findings are discussed along with the factors which may have contributed to his longevity, which is unique in the medical literature. His management reflected the state of medical knowledge at the time when he presented, and although alternate approaches may have been utilized if the patient presented today, this case does indicate the efficacy of the management options available at the time and place of the patient's contacts with the medical care system in Belarus. We discuss the findings, frequency, classification, and management of both of these congenital defects. Conclusion This case demonstrates that patients with very complex congenital cardiac disease may survive to adulthood, presenting challenges in both medical and surgical treatment. As the management of these patients is constantly evolving, and interventional techniques are improving, patients such as this with prolonged survival will be more common, with each case providing insights to future treatment. Challenges in management may include prior care provided in health care systems with limited resources.</p

Colorectal anastomotic leak:Transcriptomic profile analysis

BACKGROUND: Anastomotic leakage in patients undergoing colorectal surgery is associated with morbidity and mortality. Although multiple risk factors have been identified, the underlying mechanisms are mainly unknown. The aim of this study was to perform a transcriptome analysis of genes underlying the development of anastomotic leakage. METHODS: A set of human samples from the anastomotic site collected during stapled colorectal anastomosis were used in the study. Transcriptomic profiles were generated for patients who developing anastomotic leakage and case-matched controls with normal anastomotic healing to identify genes and biological processes associated with the development of anastomotic leakage. RESULTS: The analysis included 22 patients with and 69 without anastomotic leakage. Differential expression analysis showed that 44 genes had adjusted P < 0.050, consisting of two upregulated and 42 downregulated genes. Co-functionality analysis of the 150 most upregulated and 150 most downregulated genes using the GenetICA framework showed formation of clusters of genes with different enrichment for biological pathways. The enriched pathways for the downregulated genes are involved in immune response, angiogenesis, protein metabolism, and collagen cross-linking. The enriched pathways for upregulated genes are involved in cell division. CONCLUSION: These data indicate that patients who develop anastomotic leakage start the healing process with an error at the level of gene regulation at the time of surgery. Despite normal macroscopic appearance during surgery, the transcriptome data identified several differences in gene expression between patients who developed anastomotic leakage and those who did not. The expressed genes and enriched processes are involved in the different stages of wound healing. These provide therapeutic and diagnostic targets for patients at risk of anastomotic leakage

Diagnosis of atrial situs by transesophageal echocardiography

AbstractIn a prospective investigation, direct visualization of both atrial appendages was attempted during transesophageal echocardiographic studies in 132 patients with congenital heart disease. High quality cross-sectional images delineating the unique morphologic details of both atrial appendages were obtained in every patient. Abnormal cardiac position such as dextrocardia (four patients) or mesocardia (two patients) did not pose any problems for transesophageal assessment of both atrial appendages. Thus, direct diagnosis of atrial situs was possible in every patient. Atrial situs solitus was present in 127 patients studied. Three patients were found to have situs inversus, one had left atrial isomerism and one had right atrial isomerism. No patient with juxtaposed atrial appendages was encountered. All patients had prior subcostal ultrasound scans for assessment of the morphology and relation of the suprarenal abdominal great vessels and the related patterns of hepatic venous drainage.Patients with abnormal atrial situs had correlative high kilovoltage filter beam radiography for assessment of bronchus morphology. The results of situs determination obtained by either method were in agreement.In this series, transesophageal echocardiography allowed the direct and accurate visualization of both atrial appendages and the determination of atrial situs in all patients studied. Transesophageal echocardiography may prove to be the most reliable in vivo technique for determination of atrial situs

Severely increased albuminuria in patients with type 2 diabetes mellitus is associated with increased subclinical atherosclerosis in femoral arteries with Na [¹⁸F]F activity as a proxy:The DETERMINE study

Background and aims: Sodium [18F]fluoride (Na [18F]F) positron emission tomography imaging allows detailed visualization of early arterial micro-calcifications. This study aims to investigate atherosclerosis manifested by micro-calcification, macro-calcification, and aortic stiffness in patients with type 2 diabetes mellitus (T2DM) with and without albuminuria and severely decreased kidney function.Methods: A cohort was stratified in four groups (N = 10 per group), based on KDIGO categories (G1-5 A1-3). G1-2A1 non-diabetic controls (median [IQR] estimated glomerular filtration rate (eGFR) in mL/min/1.73 m2 91 [81–104]), G1-2A1 with T2DM (eGFR 87 [84–93], and albumin-creatinin-ratio (ACR) in mg/mmol 0.35 [0.25–0.75]), G1-2A3 with T2DM (eGFR 85 [60–103], and ACR 74 [62–122], and G4A3 with T2DM (eGFR 19 [13-27] and ACR 131 [59–304]). Results: Na [18F]F femoral artery grading score differed significantly in the groups with the highest Na [18F]F activity in A3 groups with T2DM (G1-2A3 with T2DM 228 [100–446] and G4A3 with T2DM 198 [113–578]) from the lowest groups of the G1-2A1 with T2DM (33 [0–93]) and in G1-2A1 non-diabetic controls (75 [0–200], p = 0.001). Aortic Na [18F]F activity and femoral artery computed tomography (CT)-assessed macro-calcification was increased in G4A3 with T2DM compared with G1-2A1 with T2DM (47.5 [33.8–73.8] vs. 17.5 [8.8–27.5] (p = 0.006) and 291 [170–511] vs. 12.2 [1.41–44.3] mg (p = 0.032), respectively). Carotid-femoral pulse wave velocity (PWV)-assessed aortic stiffness was significantly higher in both A3 groups with T2DM compared with G1-2A1 with T2DM (11.15 and 12.35 vs. 8.86 m/s, respectively (p = 0.009)). Conclusions: This study indicates that the presence of severely increased albuminuria in patients with T2DM is cross-sectionally associated with subclinical arterial disease in terms of micro-calcification and aortic stiffness. Additional decrease in kidney function was associated with advanced macro-calcifications.</p

An investigation into the use of a movement assessment protocol for under 14 rugby league players in a talent development environment

This study investigated the use of a movement assessment protocol for under-14 rugby league players by evaluating the relationships between chronological age, maturation, and anthropometry, and fitness and qualitative movement assessments (QMA) of 84 rugby league players within a talent development environment. A one-way ANOVA showed Quartile 1 players were more mature, taller (173.0±7.4 vs 165.0±8.0 cm) and heavier (72.5 vs 58.7 kg) than Quartile 4 players, with no difference evident for fitness or QMA measures. Earlier maturing players had significantly greater upper body power (5.39±0.46 vs 4.42±0.68 m), 20m speed (3.48±0.14 vs 3.65±0.19s) and power pass QMA (13.88±2.18 vs 12.00±1.98) than later maturing players. Body mass was positively related to power pass fitness (r=0.50) and QMA (r=0.22) scores, with negative relationships found for vertical jump performance (r=-0.24), sprint QMA (r=-.29) and turn off either foot QMA (r=-0.26). There is a need to educate coaches about the use of both fitness testing and qualitative movement assessments to identify talented U14 rugby league players, which potentially reduces relative age and maturational biases

Technical principles of computed tomography in patients with congenital heart disease

Cardiac magnetic resonance imaging and echocardiography are often the primary imaging techniques for many patients with congenital heart disease (CHD). However, with modern generations of CT systems and recent advances in temporal and spatial resolution, cardiac CT has been gaining an increasing reputation in the field of cardiac imaging and in the evaluation of patients with congenital heart disease. The CT imaging protocol depends on the suspected cardiac defect, the type of previous surgical repair, and the patient’s age and level of cooperation. Various strategies are available for reducing radiation exposure, which is of utmost importance particularly in paediatric patients. A sequential segmental analysis is a commonly used approach to analysing congenital heart defects. Familiarity of the performing radiologist with dedicated CT protocols, the complex anatomy, morphology and terminology of CHD, as well as with the surgical procedures used to correct congenital abnormalities is a prerequisite for correct diagnosis