The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Response Surface Methodology (RSM) Optimization of Pulsed Electric Field (PEF) Pasteurization Process of Milk-Date Beverage

Milk beverage with added natural sweetener is well appreciated by consumers as a nutritious and healthy product with unique sensorial quality attributes. However, this product requires a suitable pasteurization method without significant impact on the sensorial and physicochemical quality characteristics of the product. This study optimizes the pulsed electric filed (PEF) conditions for the pasteurization of a milk-date beverage with conserved physicochemical quality properties. The effect of process variables, such as pulse off time (20, 30, and 40 μs), number of pulses (20, 50, and 80), powder ratio (10, 15, 20, and 25% w/w), storage time (2, 4, and 6 days), and storage temperature (5, 15, and 25 °C) on the responses of total viable count (TVC), color difference (∆E), pH, and total soluble solids (TSS) was evaluated using the RSM central composite design (CCD). Pulse off time, number of pulses, date powder/milk ratio (w/w), storage time, and storage temperature greatly impacted the microbial and physical properties of the beverage. The optimal conditions for decreasing the microbiological load and physical change of beverages were a pulse off time of 40 μs, number of pulses of 80, and storage temperature of 5 °C for all powder ratios. These variables gave a safe beverage for up to six days. At optimal conditions, the values of pH, TSS, ∆E, and TVC were 7.51, 15.44 °Brix, 18.01, and 0.138 Log 10 CFU/mL, respectively, for the powder ratio of 10% (w/w); 7.66, 18.6 °Brix, 21.46, and 0.284 Log 10 CFU/mL, respectively, for the powder ratio of 15% (w/w); 7.56, 21.52 °Brix, 25.24, and 0.577 Log 10 CFU/mL, respectively, for the powder ratio of 20% (w/w); and 7.2, 24.2 °Brix, 29.34, and 0.741 Log 10 CFU/mL, respectively, for the powder ratio of 25% (w/w)

Delaying haematopoietic stem cell transplantation in children with viral respiratory infections reduces transplant‐related mortality

Viral respiratory infections (VRIs) contribute to the morbidity and transplant-related mortality (TRM) after allogeneic haematopoietic stem cell transplantation (HSCT) and strategies to prevent and treat VRIs are warranted. We monitored VRIs before and after transplant in children undergoing allogeneic HSCT with nasopharyngeal aspirates (NPA) and assessed the impact on clinical outcome. Between 2007 and 2017, 585 children underwent 620 allogeneic HSCT procedures. Out of 75 patients with a positive NPA screen (12%), transplant was delayed in 25 cases (33%), while 53 children started conditioning with a VRI. Patients undergoing HSCT with a positive NPA screen had a significantly lower overall survival (54% vs. 79%) and increased TRM (26% vs. 7%) compared to patients with a negative NPA. Patients with a positive NPA who delayed transplant and cleared the virus before conditioning had improved overall survival (90%) and lower TRM (5%). Pre-HSCT positive NPA was the only significant risk factor for progression to a lower respiratory tract infection and was a major risk factor for TRM. Transplant delay, whenever feasible, in case of a positive NPA screen for VRIs can positively impact on survival of children undergoing HSCT

Pulsed Electric Field as a Novel Technology for Fresh Barhi Date Shelf-Life Extension: Process Optimization Using Response Surface Methodology

Fresh dates of the Barhi cultivar at the Khalal maturity stage are well known for their pleasant taste, crispy texture, and bright yellow color. One of the primary technical challenges is preserving the initial high-quality fresh Khalal Barhi dates and extending their shelf life for the longest possible period after harvesting and during the marketing process. Resolving this problem would permit the export of high-quality fresh Saudi dates to international markets. Therefore, the main aim of this study is to evaluate the feasibility of utilizing a pulsed electric field as a novel non-thermal postharvest processing technology for preserving the nutritional, microbiological, and physical quality of Barhi dates during storage at different temperatures and durations. To accomplish this goal, a five-factor mixed-level central composite rotating design (CCRD) with a response surface methodology (RSM) model was used to define the best PEF processing conditions and subsequent storage environments. The influence of independent factors, PEF intensity (10, 20, 30, and 40 kV/cm), PEF exposure time (40, 80, 120, and 160 ms), PEF numbers (50, 100, 150, and 200 pulses), storage temperature (1 °C, 5 °C, 15 °C, and 25 °C), and storage time (1 day, 6 days, 11 days, 16 days, and 21 days), on the total soluble solids, firmness, total color changes, total viable count, total phenolic content, DPPH antiradical activity, fructose, and glucose were assessed. The results indicated the optimal conditions of PEF treatment and subsequently storage conditions for conserving the quality and elongating the storability of fresh Barhi dates were: 10.3 kV/cm PEF intensity; 46.73 ms PEF duration; number of PEF, is 169.9 pulses; 18.7 °C storage temperature; and 21 days’ storage time. At the aforementioned optimal conditions, the values of total soluble solids (TSS), firmness, ΔE, total viable count (TVC), total phenolic content (TPC), DPPH antiradical activity, glucose, and fructose were 41.44%, 62.47 newton, 0.1, 0.098 log CFU/g, 1.29 mg GAE/g, 65.95%, 3.45, and 3.44, respectively. These values were comparable to the predicted values (Desirability value = 1), indicating that the applied RSM models were ideal for optimizing the PEF and storage conditions for preserving the quality and prolonging the fresh Barhi dates’ shelf life. Overall, the ideal PEF treatment and storage conditions for sustaining the quality characteristics of Barhi dates during an extended storage time were identified in this study

Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood

PURPOSE: Allogeneic hematopoietic stem cell transplant (HSCT) remains the treatment of choice for patients with inborn errors of immunity (IEI). There is little published medical outcome data assessing late medical complications following transition to adult care. We sought to document event-free survival (EFS) in transplanted IEI patients reaching adulthood and describe common late-onset medical complications and factors influencing EFS. METHODS: In this landmark analysis, 83 adults surviving 5 years or more following prior HSCT in childhood for IEI were recruited. The primary endpoint was event-free survival, defined as time post-first HSCT to graft failure, graft rejection, chronic infection, life-threatening or recurrent infections, malignancy, significant autoimmune disease, moderate to severe GVHD or major organ dysfunction. All events occurring less than 5 years post-HSCT were excluded. RESULTS: EFS was 51% for the whole cohort at a median of 20 years post HSCT. Multivariable analysis identified age at transplant and whole blood chimerism as independent predictors of long-term EFS. Year of HSCT, donor, conditioning intensity and underlying diagnosis had no significant impact on EFS. 59 events occurring beyond 5 years post-HSCT were documented in 37 patients (45% cohort). A total of 25 patients (30% cohort) experienced ongoing significant complications requiring active medical intervention at last follow-up. CONCLUSION: Although most patients achieved excellent, durable immune reconstitution with infrequent transplant-related complications, very late complications are common and associated with mixed chimerism post-HSCT. Early intervention to correct mixed chimerism may improve long-term outcomes and adult health following HSCT for IEI in childhood. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10875-022-01278-6