Efectos psicológicos y en la calidad de vida de la enfermedad periodontal en una población de pacientes de la Facultad de Odontología (UdelaR)

En Uruguay la Periodontitis afecta el 30% de la población mayor de 35 años, los factores psicológicos y el estilo de vida pueden ser determinantes en la salud periodontal. La calidad de vida es enmarcada en aspectos subjetivos, la influencia que puede tener en ella la enfermedad periodontal y el factor psicológico en esta enfermedad pueden ser estudiados desde varias perspectivas y según el contexto socio cultural. El objetivo de este estudio se orientó al análisis de los factores psicológicos tras el diagnóstico de la enfermedad periodontal y las repercusiones de esta enfermedad en la calidad de vida. Se realizó una búsqueda bibliográfica manual, las bases consultadas fueron: PubMed, Biblioteca Cochrane, EMBASE, Scopus, Science Direct, SciELO. Se buscaron artículos sin límites temporales o de idiomas. Se incluyeron Investigaciones in vivo, estudios clínicos, revisiones bibliográficas y metaanálisis. También se efectuó rastreo de citas. Se diseñó un estudio metodológico mixto, en donde se utilizaron técnicas cuali y cuantitativas. Se realizaron entrevistas semiestructuradas, con base en la teoría fundamentada y se aplicó el cuestionario OHIP-14 (Oral Health Impact Profile) para estudiar la afectación en la calidad de vida, basado en el modelo teórico de Locker. La muestra se conformó por un total de 21 sujetos (52,4% mujeres y 47,6% hombres), con un rango de edad de 25 a 66 años. Todos fueron derivados y atendidos en la Clínica de Periodoncia de la Facultad de Odontología de la Universidad de la República (UdelaR) en el período de marzo 2017- diciembre 2019. Los principales hallazgos se asociaron con la identificación de factores psicológicos que presenta esta población, destacándose la alteración a nivel emocional emocional (81%) y social (62%). Al 28,5% de ellos, el diagnóstico de la enfermedad periodontal le provocó sentimientos de vergüenza, rechazo y baja autoestima. Los resultados muestran un impacto negativo en la calidad de vida de la población de 1,46 en una escala de 0-4, donde 4 es lo máximo que la persona se puede sentir afectada. Las participantes femeninas mostraron sentirse más perjudicadas (1,54) en comparación con los hombres (1,36). A mayor grado de instrucción se percibe mayor deterioro en la calidad de vida.In Uruguay, Periodontitis affects 30% of the population over 35 years of age, psychological factors and lifestyle can be decisive in periodontal health. Quality of life is a subjective aspect, the influence that periodontal disease can have on it and the psychological factor in this disease can be studied from various perspectives and according to the socio-cultural context. The objective of this study was to analyze the psychological factors and the repercussions of periodontal disease on quality of life. A manual bibliographic search was carried out, the databases consulted were PubMed, Cochrane Library, EMBASE, Scopus, Science Direct, SciELO. Articles without time or language limits were searched. In vivo investigations, clinical studies, literature reviews and meta-analyzes were included. Citation tracking was also done. A mixed methodological study was designed, where qualitative and quantitative techniques were used. Semi-structured interviews were conducted, based on grounded theory, and the OHIP-14 (Oral Health Impact Profile) questionnaire was applied to study the impact on quality of life, based on Locker's theoretical model. The sample was made up of a total of 21 subjects (52.4% women and 47.6% men), with an age range of 25 to 66 years. All were referred and treated at the Periodontics Clinic of the UdelaR School of Dentistry in the period from March 2017 to December 2019. The main findings were associated with the identification of psychological factors that this population presents, highlighting the emotional (81%) and social (62%) affectation, feelings of shame, rejection, and low self-esteem (28.5%) caused by the diagnosis of periodontal disease. The results show an affectation in the quality of life of the population of 1.46 on a scale of 0-4, where 4 is the maximum affectation. Female participants showed a higher level of impairment in quality of life (1.54) compared to men (1.36). The higher the level of education, the more impact on the quality of life

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described. Variable penetrance and intrafamilial variability have been demonstrated including severe prenatal phenotypes. Thus, it is important to differentiate this entity from others with similar clinical features and perform confirmatory molecular diagnosis. Methods: This study reports the results of HNF1B screening in a cohort of 60 patients from 58 unrelated families presenting with renal structural anomalies and/or non-immune glucose metabolism alterations, and other minor features suggesting HNF1B mutations. Results: This study identified a pathogenic variant in 23 patients from 21 families. The most frequent finding was bilateral cystic dysplasia or hyperechogenic kidneys (87% of patients). Sixty percent of them also fulfilled the criteria for impaired glucose metabolism, and these were significantly older than those patients with an HNF1B mutation but without diabetes or prediabetes (14.4 versus 3.3years, P<0.05). Furthermore, patients with HNF1B mutations had higher frequency of pancreatic structural anomalies and hypomagnesaemia than patients without mutations (P<0.001 and P = 0.003, respectively). Hyperuricaemia and increased liver enzymes were detected in some patients as well. Conclusions: Renal anomalies found in patients with HNF1B mutations are frequently unspecific and may resemble those found in other renal pathologies (CAKUT, ciliopathies). Active searching for extrarenal minor features, especially pancreatic structural anomalies or hypomagnesaemia, could support the indication for molecular diagnosis to identify HNF1B mutations

Establishment of urinary exosome-like vesicles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extraction methods

Molecular and cellular pathophysiological events occurring in the majority of rare kidney diseases remain to be elucidated. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder caused by mutations in either CLDN16 or CLDN19 genes. This disease is characterized by massive urinary wasting of magnesium and calcium, osmosis deregulation and polyuria. Patients with p.G20D homozygous mutation in CLDN19 gene exhibit different progression to kidney failure suggesting that beyond the pathogenic mutation itself, other molecular events are favoring disease progression. Due to the fact that biopsy is not clinically indicated in these patients, urinary exosome-like vesicles (uEVs) can be envisioned as a valuable non-invasive source of information of events occurring in the kidney. Exosome research has increased notably to identify novel disease biomarkers but there is no consensus standardized protocols for uEVs isolation in patients with polyuria. For this reason, this work was aimed to evaluate and refine different uEVs isolation methods based on differential centrifugation, the gold standard method. Characterization by NTA, cryo-TEM and immunoblotting techniques identified the most appropriate protocol to obtain the highest yield and purest uEVs enriched fraction possible from urine control samples and FHHNC patients. Moreover, we tested five different RNA extraction methods and evaluated the miRNA expression pattern by qRT-PCR. In summary, we have standardized the conditions to proceed with the identification of differentially expressed miRNAs in uEVs of FHHNC patients, or other renal diseases characterized by polyuria

Hyperparathyroidism Is an Independent Risk Factor for Allograft Dysfunction in Pediatric Kidney Transplantation

Allograft outcome; Hyperparathyroidism; Kidney transplantationResultado del aloinjerto; Hiperparatiroidismo; Trasplante de riñónResultat de l'aloempelt; Hiperparatiroïdisme; Trasplantament de ronyóIntroduction Little is known about the consequences of deranged chronic kidney disease–mineral and bone disorder (CKD-MBD) parameters on kidney allograft function in children. We examined a relationship between these parameters over time and allograft outcome. Methods This registry study from the Cooperative European Paediatric Renal Transplant Initiative (CERTAIN) collected data at baseline, months 1, 3, 6, 9, and 12 after transplant; and every 6 months thereafter up to 5 years. Survival analysis for a composite end point of graft loss or estimated glomerular filtration rate (eGFR) ≤30 ml/min per 1.73 m2 or a ≥50% decline from eGFR at month 1 posttransplant was performed. Associations of parathyroid hormone (PTH), calcium, phosphate, and 25-hydroxyvitamin D (25(OH)D) with allograft outcome were investigated using conventional stratified Cox proportional hazards models and further verified with marginal structural models with time-varying covariates. Results We report on 1210 patients (61% boys) from 16 European countries. The composite end point was reached in 250 grafts (21%), of which 11 (4%) were allograft losses. In the conventional Cox proportional hazards models adjusted for potential confounders, only hyperparathyroidism (hazard ratio [HR], 2.94; 95% confidence interval [CI], 1.82–4.74) and hyperphosphatemia (HR, 1.94; 95% CI, 1.28–2.92) were associated with the composite end point. Marginal structural models showed similar results for hyperparathyroidism (HR, 2.74; 95% CI, 1.71–4.38), whereas hyperphosphatemia was no longer significant (HR, 1.35; 95% CI, 0.87–2.09), suggesting that its association with graft dysfunction can be ascribed to a decline in eGFR. Conclusion Hyperparathyroidism is a potential independent risk factor for allograft dysfunction in children.This study was supported by a research grant from the European Society for Paediatric Nephrology to AP. The authors gratefully acknowledge the funding of the Cooperative European Paediatric Renal Transplant Initiative Registry by a grant from the Dietmar Hopp Stiftung, the European Society for Paediatric Nephrology, and the German Society for Paediatric Nephrology and by grants from the pharmaceutical companies Astellas and Novartis

Long-Term Efficacy and Safety of the Long-Acting Complement C5 Inhibitor Ravulizumab for the Treatment of Atypical Hemolytic Uremic Syndrome in Adults

Hemolytic uremic syndrome; Kidney failure; RavulizumabSíndrome hemolítico urémico; Insuficiencia renal; RavulizumabSíndrome hemolític urèmic; Insuficiència renal; RavulizumabIntroduction Atypical hemolytic uremic syndrome (aHUS) is a rare, complex, multisystem disease of dysregulated complement activity, characterized by progressive thrombotic microangiopathy (TMA), acute kidney injury, and multiorgan dysfunction, which often progresses to chronic kidney disease. Results from the prospective clinical trial of ravulizumab (NCT02949128) reveal rapid resolution of TMA in patients with aHUS, with sustained efficacy and safety in a 26-week initial evaluation period. Methods The aim of this analysis was to characterize the long-term efficacy and the safety profile of ravulizumab in adults with aHUS who had completed the initial evaluation period of the trial. Complete TMA response, hematologic and kidney functions, and safety were evaluated for all patients available for follow-up in the extension period (median follow-up: 76.7 weeks; range: 0.6–118.3). This trial included a total of 58 patients, 49 of whom entered the extension period. Results A total of 4 additional patients achieved complete TMA response during the follow-up period. Normalization of platelet count, serum lactate dehydrogenase (LDH), and hemoglobin observed in the 26-week initial evaluation period was sustained until the last available follow-up, as were the improvements in the estimated glomerular filtration rate (eGFR) and patient quality of life. All efficacy endpoints were correlated with the sustained inhibition of complement C5. Most adverse events (AEs) occurred early during the initial evaluation period and decreased substantially during the extension period. No patient developed a meningococcal infection or died during the extension period. Conclusion This analysis reveals that ravulizumab administered every 8 weeks is efficacious with an acceptable safety profile for the long-term treatment of adults with aHUS and provides additional clinical benefit beyond 6 months of treatment

Newborn Screening: Review of its Impact for Cystinosis

Clinical course; Infantile nephropathic cystinosis; Newborn screeningCurso clínico; Cistinosis nefropática infantil; Cribado de recién nacidosCurs clínic; Cistinosi nefropàtica infantil; Cribratge de nounatsNewborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. However, while many rare diseases can now be detected at an early stage using appropriate diagnostics, the introduction of a new target disease requires a detailed analysis of the entire screening process, including a robust scientific background, analytics, information technology, and logistics. In addition, ethics, financing, and the required medical measures need to be considered to allow the benefits of screening to be evaluated at a higher level than its potential harm. Infantile nephropathic cystinosis (INC) is a very rare lysosomal metabolic disorder. With the introduction of cysteamine therapy in the early 1980s and the possibility of renal replacement therapy in infancy, patients with cystinosis can now reach adulthood. Early diagnosis of cystinosis remains important as this enables initiation of cysteamine at the earliest opportunity to support renal and patient survival. Using molecular technologies, the feasibility of screening for cystinosis has been demonstrated in a pilot project. This review aims to provide insight into NBS and discuss its importance for nephropathic cystinosis using molecular technologies

Countermeasures against COVID-19: how to navigate medical practice through a nascent, evolving evidence base - a European multicentre mixed methods study

COVID-19; Política de salut; NefrologiaCOVID-19; Política de salud; NefrologiaCOVID-19; Nealth policy; NephrologyObjectives In a previously published Delphi exercise the European Pediatric Dialysis Working Group (EPDWG) reported widely variable counteractive responses to COVID-19 during the first week of statutory public curfews in 12 European countries with case loads of 4–680 infected patients per million. To better understand these wide variations, we assessed different factors affecting countermeasure implementation rates and applied the capability, opportunity, motivation model of behaviour to describe their determinants. Design We undertook this international mixed methods study of increased depth and breadth to obtain more complete data and to better understand the resulting complex evidence. Setting This study was conducted in 14 paediatric nephrology centres across 12 European countries during the COVID-19 pandemic. Participants The 14 participants were paediatric nephrologists and EPDWG members from 12 European centres. Main outcome measures 52 countermeasures clustered into eight response domains (access control, patient testing, personnel testing, personal protective equipment policy, patient cohorting, personnel cohorting, suspension of routine care, remote work) were categorised by implementation status, drivers (expert opinion, hospital regulations) and resource dependency. Governmental strictness and media attitude were independently assessed for each country and correlated with relevant countermeasure implementation factors. Results Implementation rates varied widely among response domains (median 49.5%, range 20%–71%) and centres (median 46%, range 31%–62%). Case loads were insufficient to explain response rate variability. Increasing case loads resulted in shifts from expert opinion-based to hospital regulation-based decisions to implement additional countermeasures despite increased resource dependency. Higher governmental strictness and positive media attitude towards countermeasure implementation were associated with higher implementation rates. Conclusions COVID-19 countermeasure implementation by paediatric tertiary care centres did not reflect case loads but rather reflected heterogeneity of local rules and of perceived resources. These data highlight the need of ongoing reassessment of current practices, facilitating rapid change in ‘institutional behavior’ in response to emerging evidence of countermeasure efficacy.The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors