BACKGROUND AND OBJECTIVES: For thousands of years, betel nut has been used as a psychoactive agent in Asian and Oceanian populations. Betel nut chewing was associated with the alteration of human oral microbiome and with diseases such as oral cancer and periodontitis, but only in populations of Asian cultural background. We studied the influence of betel nut chewing on the oral microbiome in Papua New Guinea, where half of the population uses betel nut and the prevalence of these diseases is one of the highest in the world. METHODOLOGY: We characterized the oral microbiomes of 100 Papua New Guineans. We defined two cohorts of betel chewers (n = 50) and non-chewers (n = 50) based on a genetic approach to identify the presence of betel nut in saliva. We statistically compared the alpha and beta microbial diversities between the two cohorts. We performed linear discriminant analyses to identify bacterial species more prevalent in each cohort. RESULTS: We found that oral microbial diversity is significantly different between betel chewers and non-chewers. The dysbiosis observed in betel chewers, led to an increase of pathogenic bacterial species including Porphyromonas gingivalis, Treponema denticola, and Tannerella forsythia, known to be in the aetiology of periodontal diseases. CONCLUSIONS AND IMPLICATIONS: Our study strongly supports the alteration of human oral microbiome by betel nut use, potentially leading to periodontal diseases. It also shows the need to consider local specificities (e.g. different habits, betel nut types, and oral microbial diversities) to better characterize the impact of betel nut chewing on health.
- Publication type
- Journal Article MeSH
BACKGROUND: Many studies have demonstrated the association between low birth weight (LBW) and chronic kidney disease, estimated glomerular filtration rate (eGFR) and kidney volume (KV). However, studies on twins and those investigating numerous perinatal factors beyond LBW, and their associations with various kidney parameters are scarce. METHODS: A two-center cross-sectional study on five-year-old LBW children was conducted between 2021 and 2023. 110 children were enrolled (8 LBW, 58 very LBW (VLBW), 44 extremely LBW (ELBW)); 56 were twins. We examined associations between birth weight (BW), various prenatal, perinatal and postnatal factors, and eGFR, KV, tubular abnormalities and kidney ultrasound abnormalities, both in singletons and twins. RESULTS: In children with ELBW, eGFR correlated with BW (r = 0.55, P = 0.0018), while in those with BW ≥ 1000 g, eGFR remained constant. Other factors associated with decreased eGFR were hypertensive disorder of pregnancy (93.86 vs. 87.26 ml/min/1.73m2, P = 0.0285) in singletons, decreased growth velocity (β = 0.83, P = 0.0277) in twins, and lower total KV (tKV) and relative KV (rKV) in both singletons (r = 0.60, P < 0.0001 for tKV and r = 0.45, P = 0.0010 for rKV) and twins (β = 0.34, P < 0.0001 for tKV and β = 0.23, P = 0.0002 for rKV). Based on the multivariable models excluding KV, BW and gestational age were associated with eGFR in singletons, while male gender, BW, growth velocity, and coffee drinking during pregnancy were associated with eGFR in twins. However, in models that included KV, BW, gestational age and growth velocity were no longer significant. Total KV was associated with BW (r = 0.39, P = 0.0050 for singletons; β = 2.85, P < 0.0001 for twins), body mass index (r = 0.34, P = 0.0145 for singletons; β = 8.44, P < 0.0001 for twins), and growth velocity (β = 1.43, P = 0.0078). Twins born small for gestational age had lower tKV (70.88 vs 89.20 ml, P < 0.0001). Relative KV showed similar associations. Relative kidney volumes were significantly lower for both kidneys compared to the reference population (55.02 vs 65.42 ml/m2, P < 0.0001 for right kidney and 61.12 vs 66.25 ml/m2, P = 0.0015 for left kidney); however, only 8.6% of children had rKV below 10th percentile. CONCLUSION: Many factors affect eGFR and KV, some of them differ between twins and singletons. Based on multivariable models, eGFR seems to be better predicted by KV than by BW and gestational age in LBW children. Relative kidney volumes were significantly lower in our cohort compared to the reference population, but only 8.6% of rKV were below 10th percentile.
- MeSH
- Renal Insufficiency, Chronic epidemiology etiology physiopathology MeSH
- Twins MeSH
- Glomerular Filtration Rate * MeSH
- Kidney * diagnostic imaging physiopathology MeSH
- Humans MeSH
- Infant, Low Birth Weight * MeSH
- Infant, Newborn MeSH
- Birth Weight MeSH
- Child, Preschool MeSH
- Cross-Sectional Studies MeSH
- Risk Factors MeSH
- Pregnancy MeSH
- Organ Size MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
AIM: Despite the high sensitivity of neonatal screening in detecting the classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, one of the unclear issues is identifying asymptomatic children with late onset forms. The aim of this nationwide study was to analyse the association between genotype and screened level of 17-hydroxyprogesterone in patients with the late onset form of 21-hydroxylase deficiency and to quantify false negativity. METHODS: In the Czech Republic, 1,866,129 neonates were screened (2006-2022). Among this cohort, 159 patients were confirmed to suffer from 21-hydroxylase deficiency, employing the 17-hydroxyprogesterone birthweight/gestational age-adjusted cut-off limits, and followed by the genetic confirmation. The screening prevalence was 1:11,737. Another 57 patients who were false negative in neonatal screening were added to this cohort based on later diagnosis by clinical suspicion. To our knowledge, such a huge nationwide cohort of false negative patients has not been documented before. RESULTS: Overall, 57 patients escaped from neonatal screening in the monitored period. All false negative patients had milder forms. Only one patient had simple virilising form and 56 patients had the late onset form. The probability of false negativity in the late onset form was 76.7%. The difference in 17-hydroxyprogesterone screening values was statistically significant (p<0.001) between severe forms (median 478.8 nmol/L) and milder (36.2 nmol/L) forms. Interestingly, the higher proportion of females with milder forms was statistically significant compared with the general population. CONCLUSIONS: A negative neonatal screening result does not exclude milder forms of 21-hydroxylase deficiency during the differential diagnostic procedure of children with precocious pseudopuberty.
- MeSH
- 17-alpha-Hydroxyprogesterone * blood MeSH
- False Negative Reactions MeSH
- Adrenal Hyperplasia, Congenital * diagnosis blood MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Neonatal Screening * methods MeSH
- Steroid 21-Hydroxylase genetics MeSH
- Age of Onset MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czech Republic MeSH
Cíl: V počtech mechanické trombektomie (MT) symptomatického uzávěru velké mozkové tepny u pacientů s akutní ischemickou cévní moz- kovou příhodou (iCMP) na počet obyvatel se řadí Česká republika na přední místa v Evropě. Cílem práce bylo na základě analýzy dat studie METRICS II (Mechanical Thrombectomy Quality Indicators Study in Czech Stroke Centers II) zhodnotit aktuální výsledky léčby iCMP a vývoj plnění indikátorů kvality napříč republikou. Sekundárním cílem práce byla subanalýza souboru z hlediska použité techniky MT a jejího vlivu na úspěšnost rekanalizace uzávěru velké mozkové tepny. Metodika: Národní prospektivní observační studie METRICS II probíhala v České republice od 1. ledna 2023 do 31. prosince 2023. Studie se zúčastnilo jedenáct z patnácti center provádějících MT. Všechna technická a klinická data byla sbírána prospektivně. Výsledky léčby iCMP byly následně srovnány s doporučenými hodnotami jednotlivých parametrů multioborového konsenzu a výsledky studie METRICS probíhající v roce 2019. Data vztahující se k vlastní technice MT v předním povodí byla podrobena subanalýze a statisticky zpracována z hlediska vlivu použité techniky na úspěšnost rekanalizace uzávěru velké mozkové tepny. Výsledky: V práci jsou analyzována data z jedenácti center, ve kterých byla mechanická trombektomie provedena celkem 1312 pacientům (51,1 % mužů) průměrného věku 70,9 roků (SD ± 12,7). Intravenózní trombolýzou (IVT) byli před MT léčeni 894 nemocní (68,2 %) a 426 (32,5 %) bylo sekundárně transportováno k MT z jiného centra. Získaná data z národní prospektivní observační studie METRICS II byla hodnocena jako celek i pro jednotlivá centra. Shoda výsledků péče s doporučeními navrženými multioborovým konsenzem byla velmi vysoká. Sedm center splnilo parametry všech doporučení. Ostatní centra nesplnila pouze ojedinělá kritéria a ve většině případů jen hraničně. Statistickým zpracováním souboru MT v přední cirkulaci byla prokázána signifikantní závislost mezi typem MT a dosažením rekanalizace (TICI 2b–3, p = 0,0004, resp. TICI 2c/3, p < 0,0001). Závěr: Výsledky studie METRICS II ukázaly vysokou kvalitu péče o pacienty s uzávěrem velké mozkové tepny léčených MT. Statistickým zpracováním souboru MT v přední cirkulaci byla prokázána signifikantní závislost mezi typem MT a dosažením rekanalizace. Pro skupinu pacientů, u kterých proběhla MT kombinací aspirace a rekanalizace za pomoci stentretrieveru sekundárně, byla nalezena signifikantně nižší úspěšnost rekanalizace uzávěru velké mozkové tepny.
Aim: The Czech Republic is among the leading countries in Europe in the number of mechanical thrombectomy (MT) procedures for symptomatic large vessel occlusion (LVO) in patients with acute ischemic stroke per population. The aim of this study was to evaluate the current outcomes of acute ischemic stroke treatment and the development of treatment quality indicators in the Czech Republic based on the analysis of data from the METRICS II study (Mechanical Thrombectomy Quality Indicators Study in Czech Stroke Centres II). The secondary aim of the study was to subanalyze the cohort in terms of the MT technique used and its impact on the success of recanalisation of the LVO. Methods: The national prospective observational study METRICS II was conducted in the Czech Republic from 1 January 2023 to 31 December 2023. Eleven of the 15 centres performing MT participated in the study. All technical and clinical data were collected prospectively. The results of ischemic stroke treatment were then compared with the recommended values of the individual parameters of the multidisciplinary consensus and the results of the METRICS study ongoing in 2019. Data related to the actual technique of MT in the anterior circulation were subanalyzed and statistically processed for the effect of the technique used on the success of recanalization of the LVO. Results: Data from 11 centres in which mechanical thrombectomy was performed on a total of 1312 patients (51.1% male) with a mean age of 70.9 years (SD ± 12.7) were analysed. IV thrombolysis prior MT was performed in 894 (68.2%) patients and 426 (32.5%) patients were transferred secondarily for MT from primary stroke centers to dedicated comprehensive centers. Data obtained from the national prospective observational METRICS II study were evaluated as a whole and for individual centers. The concordance of results with the recommendations of multi- society consensus was very high. Seven centers met the parameters of all recommendations. The remaining centers failed to meet only isolated criteria and only marginally. Statistical analysis of the anterior circulation MT cohort showed a significant relationship between MT type and achievement of recanalization (TICI 2b-3, p = 0.0004 and TICI 2c/3, p < 0.0001, respectively). Conclusion: The results of METRICS II showed a high quality of care for patients with large cerebral artery occlusion treated with MT. Statistical analysis of a cohort of anterior circulation MTs showed a significant relation- ship between the type of MT and the achievement of recanalisation. A significantly lower success rate of recanalization of LVO was found for the group of patients who underwent MT by a combination of aspiration and recanalization using a stent retriever secondarily.
BACKGROUND & AIMS: Despite strong evidence for improved preservation of donor livers by machine perfusion, longer post-transplant follow-up data are urgently needed in an unselected patient population. We aimed to assess long-term outcomes after transplantation of hypothermic oxygenated machine perfusion (HOPE)-treated donor livers based on real-world data (i.e., IDEAL-D stage 4). METHODS: In this international, multicentre, observational cohort study, we collected data from adult recipients of HOPE-treated livers transplanted between January 2012 and December 2021. Analyses were stratified by donation after brain death (DBD) and donation after circulatory death (DCD), sub-divided by their respective risk categories. The primary outcome was death-censored graft survival. Secondary outcomes included the incidence of primary non-function (PNF) and ischaemic cholangiopathy (IC). RESULTS: We report on 1,202 liver transplantations (64% DBD) performed at 22 European centres. For DBD, a total number of 99 benchmark (8%), 176 standard (15%), and 493 extended-criteria (41%) cases were included. For DCD, 117 transplants were classified as low risk (10%), 186 as high risk (16%), and 131 as futile (11%), with significant risk profile variations among centres. Actuarial 1-, 3-, and 5-year death-censored graft survival rates for DBD and DCD livers were 95%, 92%, and 91%, vs. 92%, 87%, and 81%, respectively (log-rank p = 0.003). Within DBD and DCD strata, death-censored graft survival was similar among risk groups (log-rank p = 0.26, p = 0.99). Graft loss due to PNF or IC was 2.3% and 0.4% (DBD), and 5% and 4.1% (DCD). CONCLUSIONS: This study shows excellent 5-year survival after transplantation of HOPE-treated DBD and DCD livers with low rates of graft loss due to PNF or IC, irrespective of their individual risk profile. HOPE treatment has now reached IDEAL-D stage 4, which further supports its implementation in routine clinical practice. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05520320. IMPACT AND IMPLICATIONS: This study demonstrates the excellent long-term performance of hypothermic oxygenated machine perfusion (HOPE) treatment of donation after circulatory and donation after brain death liver grafts irrespective of their individual risk profile in a real-world setting, outside the evaluation of randomised-controlled trials. While previous studies have established safety, feasibility, and efficacy against the current standard, according to the IDEAL-D evaluation framework, HOPE treatment has now reached the final IDEAL-D stage 4, which further supports its implementation in routine clinical practice.
- MeSH
- Tissue Donors statistics & numerical data MeSH
- Adult MeSH
- Cohort Studies MeSH
- Middle Aged MeSH
- Humans MeSH
- Perfusion * methods instrumentation MeSH
- Graft Survival * MeSH
- Aged MeSH
- Hypothermia, Induced methods MeSH
- Liver Transplantation * methods adverse effects MeSH
- Organ Preservation * methods MeSH
- Treatment Outcome MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Observational Study MeSH
... Severe obesity, a susceptibility factor for developing inflammatory bowel disease: results of a population-based ... ... Plasma exchange does not improve overall survival in patients with acute liver failure in a real-world cohort ... ... Endoscopic Submucosal Dissection for Colorectal Neoplasia: A Propensity-Score Matched Longitudinal Cohort ...
BACKGROUND: Plant-based diets are gaining popularity due to their well-documented cardiometabolic benefits and environmental sustainability. However, these diets are often lower in specific micronutrients such as iodine, raising concerns about their potential impact on thyroid health. Therefore, we examined the associations between plant-based diets and the risk of hypothyroidism. METHODS: We analysed data from the UK (United Kingdom) Biobank cohort. Multivariable Cox proportional hazards regression models were used to estimate hazard ratios (HRs) and 95% confidence intervals (95% CIs) for incident hypothyroidism across vegans, vegetarians, pescatarians, poultry-eaters, low meat-eaters, and high meat-eaters aged 40-69 years. Ancillary to this, we carried out logistic regression analyses to evaluate associations between the diet groups and prevalent hypothyroidism according to International Classification of Diseases (ICD) codes at baseline. RESULTS: We included 466,362 individuals from the UK Biobank, of which 220,514 followed a high meat, 221,554 a low meat, 5242 a poultry-based, 10,598 a pescatarian, 8057 a vegetarian, and 397 a vegan diet. During a median SD (Standard Deviation) follow-up of 12.7 (± 3.2) years, 10,831 participants developed hypothyroidism. In multivariable Cox regression models without adjustment for body mass index (BMI), none of the diets were significantly associated with the risk of hypothyroidism. However, there was a tendency for a higher risk of hypothyroidism among vegetarians compared to people following a high meat diet (HR = 1.13, 95% CI 0.98-1.30). After controlling for BMI, a potential collider, the association for vegetarians (HR = 1.23, 95% CI 1.07-1.42) became stronger and statistically significant. Furthermore, we observed a positive association between low meat-eaters (OR = 1.05, 95% CI 1.03-1.08), poultry-eaters (OR = 1.15, 95% CI 1.04-1.28), pescatarians (OR = 1.10, 95% CI 1.01-1.19) and vegetarian (OR = 1.26, 95% CI 1.15-1.38) with hypothyroidism prevalence. CONCLUSIONS: In the present study, we found a moderately higher risk of hypothyroidism among vegetarians, after controlling for BMI, a potential collider. This slightly higher risk of hypothyroidism among vegetarians requires further investigation, taking iodine status and thyroid hormone levels into account.
- MeSH
- Diet, Vegetarian * adverse effects MeSH
- Diet * adverse effects MeSH
- Adult MeSH
- Hypothyroidism * epidemiology etiology MeSH
- Middle Aged MeSH
- Humans MeSH
- Meat * MeSH
- Proportional Hazards Models MeSH
- Prospective Studies MeSH
- Risk Factors MeSH
- Aged MeSH
- Vegetarians * statistics & numerical data MeSH
- Animals MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- United Kingdom MeSH
Flow cytometry immunophenotyping is critical for the diagnostic classification of mature/peripheral B-cell neoplasms/B-cell chronic lymphoproliferative disorders (B-CLPD). Quantitative driven classification approaches applied to multiparameter flow cytometry immunophenotypic data can be used to extract maximum information from a multidimensional space created by individual parameters (e.g., immunophenotypic markers), for highly accurate and automated classification of individual patient (sample) data. Here, we developed and compared five diagnostic classification algorithms, based on a large set of EuroFlow multicentric flow cytometry data files from a cohort 659 B-CLPD patients. These included automatic population separators based on Principal Component Analysis (PCA), Canonical Variate Analysis (CVA), Neighbourhood Component Analysis (NCA), Support Vector Machine algorithms (SVM) and a variant of the CA(Canonical Analysis) algorithm, in which the number of SDs (Standard Deviations) varied for each of the comparisons of different pairs of diseases (CA-vSD). All five classification approaches are based on direct prospective interrogation of individual B-CLPD patients against the EuroFlow flow cytometry B-CLPD database composed of tumor B-cells of 659 individual patients stained in an identical way and classified a priori by the World Health Organization (WHO) criteria into nine diagnostic categories. Each classification approach was evaluated in parallel in terms of accuracy (% properly classified cases), precision (multiple or single diagnosis/case) and coverage (% cases with a proposed diagnosis). Overall, average rates of correct diagnosis (for the nine B-CLPD diagnostic entities) of between 58.9 % and 90.6 % were obtained with the five algorithms, with variable percentages of cases being either misclassified (4.1 %-14.0 %) or unclassifiable (0.3 %-37.0 %). Automatic population separators based on CA, SVM and PCA showed a high average level of correctness (90.6 %, 86.8 %, and 86.0 %, respectively). Nevertheless, this was at the expense of proposing a considerable number of multiple diagnoses for a significant proportion of the test cases (54.5 %, 53.5 %, and 49.6 %, respectively). The CA-vSD algorithm generated the smaller average misclassification rate (4.1 %), but with 37.0 % of cases for which no diagnosis was proposed. In contrast, the NCA algorithm left only 2.7 % of cases without an associated diagnosis but misclassified 14.0 %. Among correctly classified cases (83.3 % of total), 91.2 % had a single proposed diagnosis, 8.6 % had two possible diagnoses, and 0.2 % had three. We demonstrate that the proposed AI algorithms provide an acceptable level of accuracy for the diagnostic classification of B-CLPD patients and, in general, surpass other algorithms reported in the literature.
- MeSH
- Algorithms MeSH
- B-Lymphocytes * pathology MeSH
- Immunophenotyping * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Lymphoproliferative Disorders * diagnosis classification MeSH
- Flow Cytometry * methods MeSH
- Aged MeSH
- Support Vector Machine MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Comparative Study MeSH
BACKGROUND: Recently, a plethora of novel systemic agents have been incorporated into the therapeutic armamentarium of advanced urothelial carcinoma (aUC). The antibody-drug conjugate (ADC), enfortumab vedotin (EV), has demonstrated relevant clinical benefit in patients with aUC refractory to platinum and immune-checkpoint inhibitor (ICI) therapy. Our study provides a retrospective, international, real-world analysis comparing the effectiveness of EV to chemotherapy in this setting. METHODS: The data were extracted from the medical records of patients treated with EV or chemotherapy following pembrolizumab for recurrent or progressive aUC after platinum-based chemotherapy. Patients were assessed for overall survival (OS), progression-free survival (PFS), overall response rate (ORR) and duration of response (DoR). RESULTS: Our analysis included 247 patients treated with EV (88, 36%) or chemotherapy (159, 64%). Median OS was 9.1 months (95%CI 7.2-10.7) in the overall study population, 13.6 months (95%CI 10.0-31.0) in patients receiving EV and 6.8 months (95%CI 6.0-8.9) in patients receiving chemotherapy (p < 0.001). The OS benefit of EV was not affected by primary tumour site and histology, metastatic sites, type of first platinum-based chemotherapy or response to pembrolizumab. In the EV cohort, the median PFS was significantly longer (8.8 months [95%CI 6.5-17.0] vs. 3.0 months [95%CI 2.6-3.7]) and the ORR was significantly higher (56% vs. 23%) than in the chemotherapy cohort. CONCLUSIONS: The results of our international analysis of real-world data confirm the effectiveness of EV in the sequential strategy of aUC patients who have received prior platinum-based chemotherapy and anti-PD-1 pembrolizumab, regardless of commonly considered prognostic factors. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT05290038.
- MeSH
- Progression-Free Survival MeSH
- Adult MeSH
- Antibodies, Monoclonal, Humanized * therapeutic use administration & dosage MeSH
- Immune Checkpoint Inhibitors therapeutic use MeSH
- Carcinoma, Transitional Cell drug therapy mortality pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Antibodies, Monoclonal therapeutic use administration & dosage MeSH
- Antineoplastic Combined Chemotherapy Protocols * therapeutic use MeSH
- Retrospective Studies MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Urologic Neoplasms drug therapy pathology mortality MeSH
- Treatment Outcome MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults remains poorly understood, partly due to age-based restrictions on testing access. To better evaluate the diagnostic yield and clinical utility of genetic testing in this population, we analyzed data from adults aged ≥50 years with CKD who were assessed in a specialized kidney genetics clinic. Methods: We studied a cohort of 125 adults with CKD aged ≥50 years at the time of genetic testing. Genetic testing included gene panels targeting disease-related genes based on clinical phenotype, and/or exome sequencing for additional monogenic causes if the initial panel testing was inconclusive. Results: Pathogenic variants in disease-related genes were identified in 38% of patients. The highest diagnostic yield (48%) was in patients aged 50-54 years. The most common diagnosis post-testing was glomerulopathies (32%). Clinical utility, shown through the case series, included modifications to treatment and clinical management, as well as a reduction in the diagnostic odyssey. Conclusions: Our findings from a dedicated Kidney Genetics Clinic show that genetic testing in adults ≥50 years with CKD has significant diagnostic and clinical utility. These results support guideline recommendations that there should be no upper age limit for genetic testing. Future research in unselected CKD populations is needed to establish the broader applicability and feasibility of genetic testing in older adults.
- MeSH
- Renal Insufficiency, Chronic * genetics diagnosis MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Testing * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Exome Sequencing MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH