Irrigating Acetic Acid Solution During Colonoscopy for the Detection of Sessile Serrated Neoplasia: A Randomized Controlled Trial.

BACKGROUND: Misdiagnosed sessile serrated lesions (SSLs) are important precursors for interval colorectal cancers. AIMS: We investigated the usage of acetic acid (AA) solution for improving the detection of SSLs in the right colon in a randomized controlled trial. METHODS: A tandem observation of the right colon was performed in 412 consecutive patients. A first inspection was performed under white light high-definition endoscopy. In the AA group, a low concentration vinegar solution (AA: 0.005%) irrigated by a water pump in the right colon was compared with a plain solution of normal saline (NS) in the diagnostic yield of SSLs during the second inspection. Secondary outcomes in overall polyp detection were measured. RESULTS: Qualitative comparisons showed significant differences in the detection rates of all polyps except adenomas, with remarkable improvement in the demonstration of advanced (> 20 mm), SSLs, and hyperplastic polyps during the second inspection of the right colon using the AA solution. Significant improvement was also noted in the AA group, as far as the mean number of polyps/patient detected, not only in SSLs (AA group: 0.14 vs. NS group: 0.01, P < 0.001), but also in all histological types and all size-categories in the right colon. Small (≤ 9 mm) polyps were detected at a higher rate in the sigmoid colon expanding the effect of the method in the rest of the colon. CONCLUSION: AA-assisted colonoscopy led to a significant increase in SSLs detection rate in the right colon in a safe, quick, and effective manner.

The Effect of Sodium-Glucose Co-transporter-2 (SGLT-2) Inhibitors on Cardiometabolic Profile; Beyond the Hypoglycaemic Action.

Type 2 diabetes mellitus (T2DM) has growing prevalence worldwide and major clinical implications, chiefly cardiovascular (CV) and renal disease burden. Sodium-glucose co-transporter (SGLT)-2 inhibitors are a new drug class in the management of T2DM with a mechanism of action independent of insulin. In addition to their hypoglycaemic effect, SGLT-2 inhibitors appear to have haemodynamic and nephroprotective effects. Studies have consistently showed a modest but significant blood pressure (BP) reduction. Metabolic benefits are also attributed to SGLT-2 inhibitors with a modest but consistent body weight decrease recorded along with improvements in lipid profile and uric acid levels. Remarkable findings of significant cardioprotective effects came from the recent EMPA-REG study with a particular focus on heart failure. In the kidney, SGLT-2 inhibitors reduce hyperfiltration, a precipitant of diabetic nephropathy.

AMY1 diploid copy number among end-stage renal disease patients.

PURPOSE: The salivary amylase gene (AMY1) copy number variation (CNV) is increased as a human adaptation to starch-enriched nutritional patterns. The purpose of this study was to evaluate the relationship between AMY1 CNV, dietary starch consumption, and anthropometric indices among a known population with elevated cardiovascular risk, being end-stage renal disease (ESRD) patients. METHODS: A total of 43 ESRD patients were recruited based on the following inclusion criteria: being (1) adults, (2) on hemodialysis for more than 3 months, (3) able to communicate effectively, and (4) willing to participate. Anthropometric measurements were performed, dietary intake was recorded via food-frequency questionnaires, and AMY1 CNV was quantified in blood samples DNA via real-time PCR. RESULTS: Median AMY1 CNV was 4.0 (2.0-17.0). A total of 21 patients had an even, and 22 had an odd AMY1 copy number (CN). Independent samples t tests revealed that AMY1-odd diploid CN is associated with increased body weight, waist and hip circumferences, and fat mass compared to the respective even diploid CN carrier group. No differences were observed for BMI or nutritional intake. Multiple regression analysis revealed that AMY1-odd diploid CN was positively associated with increased hip circumference (ß = 7.87, 95% CI = 0.34 to 15.39) and absolute fat mass (ß = 6.66, 95% CI = 0.98 to 12.34); however, after applying the Bonferroni correction for multiplicity, all regression analyses lost their significance. CONCLUSIONS: AMY1-odd diploid CN appears to be associated with selected adiposity variables among hemodialysis patients. However, more research is needed to verify this finding in this population with known increased cardiovascular risk.

Can a left internal jugular catheter be used in the hemodialysis of a patient with persistent left superior vena cava?

A patient with a persistent left superior vena cava (PLSVC) was incidentally diagnosed after positioning of a dual lumen catheter for hemodialysis into the left internal jugular vein. Although PLSVC is a relatively rare condition, it is the most common congenital anomaly of thoracic venous circulation. It represents the persistence of the left horn of the embryonic sinus venosus, which normally involutes during embryogenesis to become the coronary sinus. The existence of a PLSVC can cause a significant diagnostic dilemma during catheterization of the left internal jugular vein, pertaining to the positioning of the catheter. It may also be associated with significant clinical implications such as systemic embolization, provocation of arrhythmia, and thrombosis of the vessel. The safety of such catheterization has not been adequately evaluated due to the rarity of this condition. We believe that a diagnostic workup including blood gas analysis, echocardiography, and computed tomography is necessary to confirm a right atrial drainage and a patent innominate vein as prerequisites to maintain the catheter in position.

Fabry disease due to D313Y and novel GLA mutations.

OBJECTIVES: Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature. SETTING AND PARTICIPANTS: Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were included in this polycentric cohort study. PRIMARY AND SECONDARY OUTCOME MEASURES: Genotyping and measurement of lyso-Gb3 was performed in all individuals. The α-Gal A activity was measured in all men as well as plasma and urine Gb3 concentration in selected cases. Optical and electron microscopy was performed in kidney biopsies of selected patients. All the above were evaluated in parallel with the clinical data of the patients. RESULTS: Fourteen new cases of FD were recognised, four of which were carrying already described GLA mutations. Four novel GLA mutations, namely c.835C>T, c.280T>A, c.924A>C and c.511G>A, resulting in a classic FD phenotype were identified. Moreover, FD was definitely diagnosed in five patients carrying the D313Y mutation. Eight D313Y carriers were presenting signs of FD despite not fulfilling the criteria of the disease, two had no FD signs and two others were apparently healthy. CONCLUSIONS: Four novel GLA pathogenic mutations are reported and evidence of pathogenicity of the D313Y mutation is provided. It seems that the D313Y mutation is related to a later-onset milder phenotype than the typical phenotype with normal lysoGb3 concentration. Our study underlines the significance of family member genotyping and newborn screening to avoid misdiagnoses and crucial delays in diagnosis and treatment of the disease.

A Case of Pulmonary-Renal Syndrome Leading to the Diagnosis of Legionnaires' Disease.

We report a case of a 51-year-old Caucasian man referred at our department due to acute renal failure (ARF) complicating respiratory failure during hospitalization in a regional hospital. The patient was previously started on steroids due to the suspicion of rapidly progressive glomerulonephritis (RPGN) in the context of Goodpasture syndrome. However, clinical and laboratory findings did not support this diagnosis; instead a careful evaluation limited differential diagnosis of the renal insult to acute tubular necrosis or acute interstitial nephritis (AIN) following respiratory infection. With lung function fully improved but renal function not recovering, a renal biopsy revealed AIN, a finding leading to further diagnostic testing and finally to the diagnosis of Legionnaires' disease as a cause of this patient's pulmonary-renal syndrome. The management consisted of progressive tapering of oral steroids associated with full recovery of the patient's renal function. This is a rare case of Legionnaires' disease causing immune-mediated AIN and highlights the possibility of Legionella infection as a cause of pulmonary-renal syndrome.

Increased Urinary Excretion of Podocyte Markers in Normoalbuminuric Patients with Diabetes.

BACKGROUND: Podocyte injury plays a crucial role in the pathogenesis and progression of diabetic nephropathy (DN). We investigated whether patients with diabetes mellitus (DM) without overt DN present podocyte markers in urine suggestive of early podocyte injury. METHODS: We studied 71 patients with DM type 2 and normal urine albumin excretion (UAE) and 39 non-diabetic controls. The mRNA abundance of 3 podocyte-specific markers in urinary sediment (nephrin, podocin and synaptopodin) was measured with real-time quantitative PCR. All the subjects were categorized according to their urinary podocyte marker profile into 2 groups, those with only synaptopodin mRNA presence (synaptopodin only group) and those with nephrin and/or podocin mRNA presence in addition to synaptopodin in their urine (nephrin and/or podocin group). RESULTS: Synaptopodin mRNA was detected in the urine of all the diabetics and controls. The presence of nephrin and/or podocin mRNA in urine was more frequent among DM patients compared to controls (53.5 vs. 30.8%, respectively; p = 0.022). Binary logistic regression analysis revealed that the only significant predictor of the presence of nephrin and/or podocin mRNA in urine was the presence of DM (OR 2.59, 95% CI 1.14-5.91, p = 0.024, adjusted for all risk factors). A strong correlation between nephrin and podocin urinary mRNA levels was noted (r = +0.796, p < 0.001). CONCLUSION: This study demonstrated that urinary podocyte markers are more prevalent in diabetic patients with normal UAE compared to controls, and this may reflect early podocyte injury. DM is the only significant determinant of the presence of nephrin and/or podocin mRNA in urine in this population. Therefore, urinary podocyte markers may emerge as a valuable tool in the early diagnosis of DN.

A patient presenting with bilateral lung lesions, pleural effusion, and proteinuria.

Diagnosis and management of a systemic vasculitis are among the most demanding challenges in clinical medicine. A patient with a past history of cryptogenic organizing pneumonia presents with new bilateral lung lesions, unilateral pleural effusion, and significant proteinuria. The patient tested p-ANCA and anti-MPO positive but c-ANCA negative. A diagnosis of granulomatosis with polyangiitis GPA was reached after performing both renal and lung biopsies. Step-by-step differential diagnosis and management are discussed.

Residual renal function in hemodialysis patients: the role of Angiotensin-converting enzyme inhibitor in its preservation.

Residual Renal function (RRF) has an important role in the overall morbidity and mortality in hemodialysis patients. The role of angiotensin-converting enzyme inhibitor (ACEi) in preserving renal function in chronic proteinuric nephropathies is well documented. We test the hypothesis that enalapril (an ACEi) slows the rate of decline of RRF in patients starting hemodialysis. A prospective, randomized open-label study was carried out. 42 patients were randomized in two groups either in treatment with enalapril or no treatment at all. Our study has proven that enalapril has a significant effect on preserving residual renal function in patients starting dialysis at least during the first 12 months from the initiation of the hemodialysis. Further studies are necessary in order to investigate the potential long-term effect of ACEi on residual renal function and on morbidity and mortality in patients starting hemodialysis.