Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR).

REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years.

Hypogammaglobulinemia and Infection Risk in an Ocrelizumab-treated Multiple Sclerosis Cohort.

Background: Ocrelizumab is an effective anti-CD20 therapy approved for Relapsing Remitting (RRMS) and Primary Progressive Multiple Sclerosis (PPMS). In clinical trials, a proportion of patients developed hypogammaglobulinemia which could contribute to infection risk. This study aimed to identify hypogammaglobulinemia and its risk factors and evaluate potentially associated serious infection risk in a real-world cohort of patients.

CircRNAome of Childhood Acute Lymphoblastic Leukemia: Deciphering Subtype-Specific Expression Profiles and Involvement in ALL.

Childhood B-cell acute lymphoblastic leukemia (B-ALL) is a heterogeneous disease comprising multiple molecular subgroups with subtype-specific expression profiles. Recently, a new type of ncRNA, termed circular RNA (circRNA), has emerged as a promising biomarker in cancer, but little is known about their role in childhood B-ALL. Here, through RNA-seq analysis in 105 childhood B-ALL patients comprising six genetic subtypes and seven B-cell controls from two independent cohorts we demonstrated that circRNAs properly stratified B-ALL subtypes.

Use of glucarpidase (carboxypeptidase-G2) in pediatric cancer patients: 11-year experience of a tertiary center.

Methotrexate is an essential drug in the treatment of childhood cancer that is not exempt from toxicities. Glucarpidase is a drug used to reduce the toxic concentration of plasma methotrexate in patients with delayed elimination or at risk of toxicity. We describe the characteristics of a cohort of pediatric patients that received glucarpidase and analyze its role in the treatment of toxicity induced by high doses of methotrexate (HDMTX).

Does Vitamin D Deficiency Really Increase the Risk of Post-surgical Hypoparathyroidism?

Purpose: Postoperative hypoparathyroidism is the most frequent complication after total thyroidectomy. The identification of preoperative predictors could be helpful to identify patients at risk. The aim of this study is to determine if preoperative vitamin D levels are related to transient, protracted, and permanent hypoparathyroidism.

Effects of a mobile application on improving self-management of adult patients receiving peritoneal dialysis: A randomized controlled trial.

Aim: This study aimed to develop a mobile application for improving self-management and to evaluate its effects in adult patients on peritoneal dialysis (PD).

Methods: This randomized controlled trial was registered with the Korean Clinical Research Information Service Registry (KCT0007267) and conducted at a tertiary hospital. A self-management mobile application (SMA) was developed based on social cognitive theory and the ADDIE (analysis, design, development, implementation, and evaluation) model.

Sedation in pediatric palliative care: The role of pediatric palliative care teams.

Objectives: Palliative sedation (PS) consists of the use of drugs to alleviate the suffering of patients with refractory symptoms, through a reduction in consciousness. The aim of this study is to describe the incidence of and indications for PS in patients treated by pediatric palliative care teams (PPCT), and the relationship between PS, the place of death, and the characteristics of the care teams.

Methods: Ambispective study with the participation of 14 PPCT working in Spain.

Haploidentical Hematopoietic Stem Cell Transplantation in Pediatric Patients with Acquired Hypocellular Bone Marrow Failure.

Children with acquired hypocellular bone marrow failure of unknown cause (AHBMF) are usually diagnosed either with severe aplastic anemia (SAA) or refractory cytopenia of childhood (RCC). Patients with AHBMF who lack a matched donor and who failed or relapsed after immunosuppressive therapy (IST) need alternative therapies. Haploidentical hematopoietic stem cell transplantation (haplo-HSCT) offers a curative treatment for these patients.

Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS).

Objectives: Although hemispheric surgeries are among the most effective procedures for drug-resistant epilepsy (DRE) in the pediatric population, there is a large variability in seizure outcomes at the group level. A recently developed HOPS score provides individualized estimation of likelihood of seizure freedom to complement clinical judgement. The objective of this study was to develop a freely accessible online calculator that accurately predicts the probability of seizure freedom for any patient at 1-, 2-, and 5-years post-hemispherectomy.

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.

MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transporter. Previous research showed that D-galactose supplementation results in clinical improvement in patients with a congenital disorder of glycosylation due to germline variants in SLC35A2.

Factors affecting pediatric nurses' development of partnerships with parents of hospitalized children: An evaluation based on the stress-coping adaptation model.

We aimed to identify factors affecting pediatric nurses' perceptions of their development of partnerships with parents of hospitalized children based on Lazarus and Folkman's stress-coping adaptation model. This cross-sectional study included 209 pediatric nurses with over 1 year of clinical experience in South Korea. Data were collected using online-based self-report questionnaires containing items on nurses' perceived partnerships with parents, job stress, positive psychological capital, nursing professionalism, and a coping scale.

Dynamics of PTH levels in the development of post-operative hypoparathyroidism.

Background: Post-operative hypoparathyroidism is the most frequent complication after total thyroidectomy. The identification of preoperative predictors could be helpful to identify patients at risk. This study aimed to evaluate the potential influence of preoperative PTH levels and their perioperative dynamics as a predictor of transient, protracted, and permanent post-operative hypoparathyroidism.

End of life in patients attended by pediatric palliative care teams: what factors influence the place of death and compliance with family preferences?

Each year, more than 8 million children worldwide require specialized palliative care, yet there is little evidence available in pediatrics on the characteristics of the end of life in this context. Our aim is to analyze the characteristics of patients who die in the care of specific pediatric palliative care teams. This is ambispective, analytical observational, multicenter study conducted between 1 January and 31 December 2019.

Children and caregiver proxy quality of life from peanut oral immunotherapy trials.

Background: Health-related quality of life (HRQoL) is significantly and substantially reduced in individuals with peanut allergy due to many factors associated with unanticipated or potentially fatal reactions. Further insight on the impact of peanut oral immunotherapy in managing peanut allergy on HRQoL is needed. The aim of this analysis was to assess effects of peanut (Arachis hypogaea) allergen powder-dnfp (PTAH), a biologic drug for peanut oral immunotherapy, on HRQoL from three phase 3 and two follow-on trials of PTAH.