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Fresh Homozygous Inactivating Mutation in the PCSK1 Gene in an Child with Genetic Malabsorptive Looseness of.
© 2020 Société Française des Microscopies and Société de Biologie Cellulaire de France. Published by John Wiley & Sons Ltd.OBJECTIVE Current Endocrine Society Clinical Practice Guidelines use a specific aldosterone/renin ratio (ARR) threshold to screen for primary aldosteronism (a treatable disease causing up to 15% of hypertension in primary care) in all patients. We sought to characterize demographic variations in the ARR, hypothesizing a need for age- and sex-specific reference ranges to improve the accuracy of the test. DESIGN Retrospective cross-sectional analysis of ARR measurements at a single tertiary hospital from December 2016 to June 2018. PATIENTS A total of 442 patients with clinically indicated ARR were included, after excluding those who were on spironolactone or the oral contraceptive pill, were pregnant or had an existing adrenal condition. MEASUREMENTS Aldosterone, renin and the ARR. RESULTS Among those aged 20-39 years (n = 74), females had significantly higher median aldosterone (369 vs 244 pmol/L, P = .028), lower median renin (17.0 vs 27.6 mIU/L, P = .034) and higher median ARR (20.7 vs 10.3 (pmol/L)/(mIU/L), P = .001) than males, despite having lower systolic (135 vs 145 mmHg, P = .021) and diastolic (89 vs 96.5 mmHg, P = .007) blood pressure. The ≥ 60-year age group (n = 157) also had significant sex differences in the ARR. With increasing age (20-39 vs ≥ 60 years), there was a significant fall in plasma aldosterone in females (369 pmol/L vs 264 pmol/L, P = .005), with no change observed in males. CONCLUSIONS For those 20-39 years old, aldosterone and the ARR are significantly higher in females despite a lower systolic and diastolic BP, highlighting the potential for false-positive results. Our findings indicate the need for prospective studies with a control population to define age- and sex-specific ARR reference ranges. © 2020 John Wiley & Sons Ltd.BACKGROUND The minimal clinically important differences (MID) of the Oral Health-related Quality of Life (OHRQoL) are the benchmark to meaningfully interpret treatment outcomes. However, there is no available information regarding the factors impact the MID variations after removable partial denture (RPD) treatment. OBJECTIVE The purpose of this study was to determine the influence of the pre-treatment OHRQoL impairment on the MID in the oral health impact profile (OHIP) after RPD treatment. METHODS In this prospective study, OHIP and Self-reported Oral Health (SROH) questionnaires were administered to patients before and 3 months after RPD treatment. The MID in each OHIP version (OHIP-49, OHIP-20, OHIP-14 and OHIP-5) was the mean score of patients who showed a minimum SROH improvement. Multiple linear regression analysis was conducted to determine the influence of the pre-treatment OHIP summary score on the MID score. RESULTS Among 248 participants who completed both evaluations, 85 (34%) patients had minimum SROH improvements after RPD treatment. click here Multiple regression analysis indicated that each 10-point increase in the pre-treatment summary OHIP score was associated with an increase in the MID score of three points for OHIP-49 and four points for OHIP-20, OHIP-14 and OHIP-5 (P less then .05), after controlling for age, sex and the number of missing teeth. Therefore, the MID increased as the pre-treatment OHRQoL was impaired. CONCLUSIONS The MID was accounted for by approximately one-third of the pre-treatment summary score, independent of the OHIP version, in the interpretation of the effects of RPD treatment on patients' OHRQoL. © 2020 John Wiley & Sons Ltd.Diagnostic allergens are defined as medicinal products in the EU. Marketing authorization by national authorities is necessary, howeverdiagnostic allergensare not homogeneously regulated in different EU member states. Allergen manufacturers argue with increasing costs forcing them to continuously reduce the diagnostic allergen portfolios offeredto allergists. In contrast, EAACI and national European Allergy Societies see the need for the availability of a wide range of high-qualitydiagnostic allergens for in-vivo diagnosis of IgE-mediated allergies not only covering predominant but also less frequent allergen sources. In a recent EAACI task force survey, the current practice of allergy diagnosis was shown to rely on skin tests as first option in almost 2/3 of all types of allergic diseases and in 90 % regarding respiratory allergies. With the need to ensure the availability of high-qualitydiagnostic allergens in the EU, an action plan has been set up by EAACIto analyse the current regulatory demands in EU member states and to define possible solutions stated in this document 1. Simplification of authorization for diagnostic allergens; 2.Specific regulation of special types of diagnostic allergens; 3. New models beyond the current model of homologous groups; 4. Reduction of pharmacovigilance reporting; 5. Reduction of regulation fees for diagnostic allergens; 6. Reimbursementfor diagnostic allergens. Joining forces of allergists, manufacturers and authorities are of high importance to ensure remaining relevant allergens in the EU markets to facilitatea sustainable and comprehensive service for the diagnosis and treatment of allergic diseases. This article is protected by copyright. All rights reserved.Racially and ethnically diverse young children who live with socioeconomic adversity are at high risk for sleep deficiency, but few behavioral sleep interventions (BSIs) are tailored to their needs. To support the future development of a feasible, acceptable, and culturally relevant sleep intervention, we conducted a community-engaged, mixed-methods study with 40 low-income, racially, and ethnically diverse parents to describe sleep characteristics, sleep habits, and parental sleep knowledge of their 6-36-month-old children and to examine the associations between children's sleep characteristics and sleep habits. This report presents quantitative data from this mixed-methods study. We measured objective (actigraphy) and parent-reported sleep (Brief Infant Sleep Questionnaire) characteristics, sleep habits at bedtime, sleep onset, and during night awakenings, parental sleep knowledge, psychological function (Brief Symptom Inventory), and parenting stress (Parenting Stress Index). Children had low sleep duration (537.2 ± 54.7 nighttime and 111.2 ± 29.8 nap minutes), late bedtimes (2236 ± 1.5 hr), and high bedtime variability (mean squared successive difference = 3.68 ± 4.31 hr) based on actigraphy. Parental knowledge about sleep recommendations was limited. Sleep habits before bedtime, at sleep onset, and during night awakenings were varied. Sixty-five percent of parents reported co-sleeping. Feeding near bedtime or during the night was associated with later bedtimes, more fragmented sleep, and increased bedtime variability. These findings suggest the need for BSIs to support earlier bedtimes and improve sleep duration and continuity by addressing modifiable behaviors. Tailored BSIs that consider socioecological influences on the development of sleep habits are needed. © 2020 Wiley Periodicals, Inc.Mortierella alpina has gained remarkable interest due to its high capacity for arachidonic acid (AA) production and potential for eicosapentaenoic acid (EPA) production recently. However, the development of genetically modified strains is limited by lacking inducible promoters, which can express genes conditionally. Here, the inducible promoter of cellobiohydrolase (Pcbh1) was utilized in M. alpina and the gene oPpFADS17 encoding ω-3 fatty acid desaturase was selected as the reporter gene. Under conditions with inducer, expression of this gene enable M. alpina to produce EPA at room temperature, while no EPA was detected without inducer. We then optimised the induction conditions. The results demonstrated that the optimal induction condition was broth medium with 1% avicel as the inducer and 5% glucose as extra carbon source and the transcription level of the reporter gene was increasing with the extending of induction time. Successful application of Pcbh1 in M. alpina would significantly contribute to the steerable system to construct engineered strains for industrial production of microbial oils. This article is protected by copyright. All rights reserved.Relapse of acute myeloid leukemia (AML) remains a major determinant of outcome. A number of molecularly directed treatment options have recently emerged making comprehensive diagnostics an important pillar of clinical decision making at relapse. Acknowledging the high degree of individual genetic variability at AML relapse, next-generation sequencing (NGS) has opened the opportunity for assessing the unique clonal hierarchy of individual AML patients. Knowledge on the genetic makeup of AML is reflected in patient customized treatment strategies thereby providing improved outcomes. For example, the emergence of druggable mutations at relapse enable the use of novel targeted therapies, including FLT3 inhibitors or the recently approved IDH1/2 inhibitors ivosidenib and enasidenib, respectively. Consequently, some patients may undergo novel bridging approaches for reinduction before allogeneic stem cell transplantation, or the identification of an adverse prognostic marker may initiate early donor search. In this review, we summarize the current knowledge of NGS in identifying clonal stability, clonal evolution, and clonal devolution in the context of AML relapse. In light of recent improvements in AML treatment options, NGS-based molecular diagnostics emerges as the basis for molecularly directed treatment decisions in patients at relapse. © 2020 John Wiley & Sons Ltd.BACKGROUND Hematopoietic cell infusion-related adverse events (HCI-AEs) in hematopoietic stem cell transplantations (HSCTs) have been largely attributed to toxicity of dimethyl sulfoxide (DMSO) for cryopreservation, but HSC products also contain various cells and plasma components. Our recent prospective study of 1125 HSCT recipients revealed the highest overall HCI-AE rate in bone marrow transplantation (BMT) using fresh/noncryopreserved products, although products of peripheral blood stem cell transplantation and cord blood transplantation (CBT) are generally cryopreserved with DMSO containing smaller plasma volumes. We aimed to clarify if product volume and component effects are more substantial in small recipients including children. STUDY DESIGN AND METHODS We performed subgroup analysis on 219 recipients of 45 kg or less body weight (whole small recipients), including 90 children (pediatric recipients), from the original cohort (general recipients). RESULTS Whereas overall HCI-AE rates did not differ among hematopoietic stem cell sources in the general recipients, bradycardia most often occurred after CBT in whole small recipients. Conversely, whole small and general recipients shared the same trend of having the highest rate of hypertension in BMT. The overall HCI-AE rate was higher in allogeneic HSCT compared with autologous HSCT. Notably, pediatric recipients showed a 10-fold higher incidence of nausea and vomiting in allogeneic HSCT compared with autologous HSCT, suggesting a possible role of allogeneic antigens. Multivariate analysis identified a relatively large infusion volume per body weight as a significant factor correlating with HCI-AE in whole small recipients. CONCLUSIONS We should be aware of product volume and specific HCI-AEs such as nausea and vomiting in small patients including children. © 2020 AABB.
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