Fetal renal cystic disease and post-natal follow up-a single center experience.

Introduction: Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from in utero detection to post-natal nephrology management remains to be established. Aim of the work: We sought to evaluate the presentation and transition planning for infants identified in utero with bilateral renal cystic disease. Methods: Our retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared. Results: In our suspected renal ciliopathy cohort (n = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (n = 4), followed by Bardet-Biedl syndrome (BBS, n = 3), autosomal dominant polycystic disease (ADPKD, n = 2), HNF1B-related disease (n = 2), and Meckel-Gruber syndrome (MKS, n = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (n = 3). Polydactyly (n = 3) was detected only in patients with BBS and MKS, cardiac defects (n = 6) were identified in fetuses with ARPKD (n = 3), MKS (n = 2), and BBS (n = 1), and abnormalities of the CNS (n = 5) were observed in patients with ARPKD (n = 1), MKS (n = 2), and BBS (n = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (n = 11/13; 85%). Conclusion: Prenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified in utero with enlarged, echogenic kidneys.

Distinct trajectories distinguish antigen-specific T cells in peanut-allergic individuals undergoing oral immunotherapy.

BACKGROUND: Despite similar clinical symptoms, peanut-allergic (PA) individuals may respond quite differently to the same therapeutic interventions. OBJECTIVE: This study aimed to determine whether inherent qualities of cell response at baseline could influence response to peanut oral immunotherapy (PnOIT). METHODS: We first performed ex vivo T-cell profiling on peanut-reactive CD154+CD137+ T (pTeff) cells from 90 challenge-confirmed PA individuals. We developed a gating strategy for unbiased assessment of the phenotypic distribution of rare pTeff cells across different memory CD4+ T-cell subsets to define patient immunotype. In longitudinal samples of 29 PA participants enrolled onto the IMPACT trial of PnOIT, we determined whether patient immunotype at baseline could influence response to PnOIT. RESULTS: Our data emphasize the heterogeneity of pTeff cell responses in PA participants with 2 mutually exclusive phenotypic entities (CCR6-CRTH2+ and CCR6+CRTH2-). Our findings lead us to propose that peanut allergy can be classified broadly into at least 2 discrete subtypes, termed immunotypes, with distinct immunologic and clinical characteristics that are based on the proportion of TH2A pTeff cells. PnOIT induced elimination of TH2A pTeff cells in the context of the IMPACT clinical trial. Only 1 PA patient with a low level of TH2A pTeff cells at baseline experienced long-lasting benefit of remission after PnOIT discontinuation. CONCLUSION: Dividing PA patients according to their individual peanut-specific T-cell profile may facilitate patient stratification in clinical settings by identifying which immunotypes might respond best to different therapies.

Application of Dried Blood Spot Cards combined with liquid chromatography-tandem mass spectrometry to determine eight fat-soluble micronutrients in human blood.

The analysis of the fat-soluble vitamins A and E and lipid micronutrients in blood, such as carotenoids, is an important parameter to monitor the micronutrient status in humans. Although the potential of dried blood spot (DBS) cards, the use of this technique for blood sampling and subsequent analysis of these fat-soluble micronutrients has been poorly or not studied. An analytical method based on DBS cards (FTA® DMPK-A) combined with liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) has been developed and validated for the determination of carotenoids (lutein, zeaxanthin, ß-cryptoxanthin and ß-carotene), tocopherols (α-tocopherol, γ-tocopherol and δ-tocopherol) and all-trans-retinol in human blood. Under optimum DBS card extraction conditions, the extraction recoveries of the studied compounds were higher than 72%, the sample matrix effect lower than 17%, and the detection limits at hundred nM concentration levels. The developed method was applied to the analysis of human blood, and the concentration ranges obtained fell within the expected ranges previously reported in healthy adults. Moreover, the influence of hematocrit effect was investigated in a range of 25-55% in order to compare the obtained results to those reported in the literature for the analysis of plasma samples. This method represents an improvement over current techniques reported in the literature due to the use of a non-invasive blood collection method, and moreover, this methodology was for the first time 1) validated for the analysis of all-trans-retinol, tocopherols and carotenoids, and 2) applied for the determination of tocopherols in human blood samples.

Cuidadores de pacientes en diálisis peritoneal: experiencia de participar en un programa de habilidad de cuidado / Caregivers of peritoneal dialysis patients: experience of participating in a skilled care program

Los cuidadores de pacientes en terapia de diálisis peritoneal requieren fortalecer su habilidad de cuidado. Objetivo: Describir la experiencia del cuidador familiar que cuida a personas en diálisis peritoneal que asisten al programa 'Cuidando a los cuidadores'(C) Versión institucional'. Metodología: Estudio cualitativo de tipo descriptivo, realizado en el primer semestre de 2015, con una muestra conformada por 277 relatos de cuidadores familiares de personas en diálisis peritoneal que asistieron al programa 'Cuidando a los Cuidadores(C) versión institucional'. Para el análisis de los datos se utilizó el programa Atlas Ti versión 6.0; construyendo una taxonomía inductiva de los hallazgos, reduciendo los códigos descriptores a nominales y estos a su vez a categorías de análisis, mediante técnicas de análisis de contenido. Se realizó proceso de consentimiento informado. Resultados: Dentro de las características de los cuidadores se encontró que en su mayoría son mujeres en edad productiva, que son las madres, hijas o esposas del familiar a quien cuidan. Se construyeron 7 categorías de análisis: nuevos conocimientos, interacción con otros, apoyo, descansar, bienestar, oportunidad de mejorar, nueva perspectiva. Conclusiónes: La experiencia de participar en el programa Cuidando a los Cuidadores(C) versión institucional', es una experiencia que va desde adquirir nuevos conocimientos hasta tener una nueva perspectiva como cuidador (AU)

The caregivers of patients on peritoneal dialysis therapy need to strengthen their ability to care. Goal: To describe the experience of the family caregiver who cares for people in peritoneal dialysis that attending the program 'Caring for the caregivers'(C) Institutional Version'. Methodology: Qualitative descriptive study, conducted in the first half of 2015, with a sample consisting of 277 stories of family caregivers of peritoneal dialysis who attended the program 'Caring for the Caregivers(C) institutional version'. To analyze the data the Atlas Ti program version 6.0 was used; an inductive findings taxonomy was built, reducing the nominal codes and descriptors to turn to these categories of analysis, was used content analysis techniques. Informed consent process was performed. Results: Among the characteristics of caregivers found that most of them are of working age women who are mothers, daughters or wives who take care of the family. 7 categories of analysis were constructed: New knowledge, interaction with others, support, rest, welfare, opportunity to improve and new perspective. Conclusions: : The experience of participating in the program 'Caring for the Caregivers(C) institutional version' is an experience that goes from acquiring new knowledge to gain new perspective as a caregiver (AU)

Advances in the treatment of invasive neonatal candidiasis.

INTRODUCTION: Invasive candidiasis is responsible for ∼ 10% of nosocomial sepsis in very-low-birth-weight infants and is associated with substantial morbidity and mortality. Over the last two decades, the antifungal armamentarium against Candida spp. has increased; however, efficacy and safety studies in this population are lacking. AREAS COVERED: We reviewed the medical literature and extracted information on clinical and observational studies evaluating the use of antifungal agents in neonates with invasive candidiasis. EXPERT OPINION: Efficacy and safety data for antifungals in neonates are lacking, and the majority of studies conducted to date have concentrated on pharmacokinetic/pharmacodynamic evaluations. Unlike other anti-infective agents, efficacy data in the setting of neonatal candidiasis cannot be extrapolated from adult studies due to differences in the pathophysiology of the disease in this population relative to older children and adults. Data for amphotericin B deoxycholate, fluconazole, and micafungin suggest that these are the current agents of choice for this disease in neonates until data for newer antifungal agents become available. For prophylaxis, data from fluconazole randomized controlled trials will be submitted to the regulatory agencies for labeling. Ultimately, the field of therapeutics for neonatal candidiasis will require multidisciplinary collaboration given the numerous challenges associated with conducting clinical trials in neonates.