ABSTRACT
Pediatric renal diseases vary widely and are linked to high morbidity and mortality; hence, early diagnosis is vital. Presently, genetic testing is being incorporated into the standard of care for children and their families with kidney disease, primarily as a diagnostic tool. In the present review, we aim to collect all potential evidence from relevant studies that reported the role of genetic testing in pediatric renal disease diagnostic, prognostic, and social implications. We have conducted both electronic and manual searches within PubMed, the Cochrane Library, Web of Science, and Scopus to find relevant studies. Studies from the years 2013-2023 were included. Case reports with limited sample sizes and no descriptive statistics, along with review papers and meta-analyses, were excluded from this review. Quality assessment for all included studies was performed. The pooled diagnostic yields were calculated using the common effect and random effect models utilizing the R program (R Foundation for Statistical Computing, Vienna, Austria). The pooled result for the diagnostic yield as per the common effect model is a pooled proportion of 0.42 (42%) 95% confidence interval (CI): [0.39,0.44], while with the random effects model the pooled proportion is 0.43 (43%) 95% CI: [0.31,0.57]. The diagnostic yield for the included studies ranged from 78.10% to 16.8%. The spectrum of kidney diseases included nephrolithiasis/nephrocalcinosis, glomerular diseases, cystic kidney disease, ciliopathies, tubulopathies, chronic kidney disease, and congenital anomalies of the kidneys and urinary tracts (CAKUT), while hematuria and proteinuria were reported by two studies and autosomal recessive and autosomal dominant idiopathic kidney disease was reported by only one study. Genetic testing validates clinical diagnosis and aids in tailoring management strategies; hence, a more precise treatment plan is developed and unnecessary investigations are avoided, which is crucial in the case of children during routine nephrology clinic visits. Genetic counselling is of the utmost importance, so all ethical and social concerns related to genetic testing are addressed in addition to patient satisfaction.
ABSTRACT
OBJECTIVE: To study if obesity had a detrimental effect on troponin after acute coronary syndrome. We investigated the effects of the body mass index (BMI) in post-myocardial infarction (MI) patients, and see the difference in troponin levels and other parameters between normal and overweight patients. METHODOLOGY: A retrospective cohort study was conducted. Data were extracted from the electronic medical files of patients hospitalized due to acute ST-elevation MI to examine the association between BMI and MI. Sixty-one patients were categorized into normal BMI category, overweight, and obese/morbid obesity groups using the baseline measurements, to assess the independent factors associated with a patient with a high BMI who had a MI. RESULTS: In total, 61 post-myocardial infarction patients with a mean age of 56.9 ± 11.2 years were included in the study. The average BMI was 28.5 ± 6.5 kg/m2. Just more than a third (37.4%, n=23) were in the normal BMI category, 19 (31.2%) overweight, and 19 (31.2%) obese/morbid obesity. The mean left ventricle mass was 93.74 ± 32.69 gram and the mean left ventricular ejection fraction was 44.02% ± 10.02. A significant difference in the mean level of troponin and mean heart rate between the body mass index groups (normal vs. overweight groups) was noted. A fair correlation was noted between BMI and left ventricle mass. No statistically significant relation could be linked to high BMI with total cholesterol, low-density lipoprotein (LDL), or aspartate transferase/alanine transaminase (AST/ALT) levels. CONCLUSIONS: In this pilot study, the group with a high BMI had a statistically significant lower troponin level and higher mean heart rate. Such data need to be considered when assessing a patient's risk. In addition, obese persons with a MI had a higher left ventricle mass.
ABSTRACT
We describe a case of a 17-year-old male patient who was admitted to the hospital for an evaluation of his recurrent postprandial abdominal pain and fatigue on exertion. He was discovered to have severe post-ductal aortic coarctation (CoA) and uninterrupted left-sided inferior vena cava (IVC) draining into the right atrium crossing anterior to the abdominal aorta. There were no signs of IVC compression. Patient symptoms improved dramatically after CoA stenting on follow up. The presence of uninterrupted left-sided IVC in this particular case created a diagnostic dilemma, and it was of great importance to know such anomaly before the procedure. This association of uninterrupted left-sided IVC with CoA is unusual, and to our knowledge, our case is the first to report such congenital association.