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This paper is based on the Anne Simmonds Memorial Lecture, given by Monika Löffler at the International Symposium on Purine and Pyrimidine Metabolism in Man, Lyon 2019. It is dedicated to H. Anne Simmonds (died 2010) - a founding member of the ESSPPMM, since 2003 Purine and Pyrimidine Society - and her outstanding contributions to the identification and study of inborn errors of purine and pyrimid

This study investigated how preschool children processed and understood critical information in Magical Garden, a teachable agent-based play-&-learn game targeting early math. We analyzed 36 children’s (ages 4–6 years) real-time behavior during game-use to explore whether children: (i) processed the information meant to support number sense development; (ii) showed an understanding of the teac

DNA analysis has seen an incredible development in terms of instrumentation, assays and applications over the last years. Massively parallel sequencing (MPS) and digital PCR are now broadly applied in research and diagnostics, and quantitative PCR is used for more and more practises. All these techniques are based on in vitro DNA polymerization and fluorescence measurements. A major limitation for

Fear of childbirth (FOC) can lead to maternal distress during and after pregnancy. The aim of this randomized controlled trial (RCT) was to examine whether art therapy as an adjunct to midwife-led counseling (study group) could reduce FOC significantly more than midwife-led counseling alone (control group). The on-treatment analysis included 82 women assessed by the Wijma Delivery Expectancy Quest

A polymer electrolyte fuel cell (PEFC) is an electrochemical device that converts chemical energy directly to electrical energy, and its performance greatly depends on its operating temperature. Therefore, in this paper, a novel thermodynamic PEFC model with the airflow cooling method is firstly developed for the PEFC system. Then, a novel model predictive control (MPC) controller is designed to c

Background: Youth handball players are vulnerable to injuries. Because there is no available injury prevention training specifically developed for youth handball players targeting both upper and lower limbs or incorporating psychological aspects of injury, we undertook the € Implementing injury Prevention training ROutines in TEams and Clubs in youth Team handball (I-PROTECT)' project. We used an

Introduction: Elderly patients with displaced femoral neck fractures (FNF) are usually operated with arthroplasty but with various combinations of implants and approaches. Thus, the optimal treatment is still controversial. We aimed to compare the results between the cemented bipolar hemiarthroplasty (HA) and total hip arthroplasty (THA) patients operated for FNF regarding revision rate at 1 year

BACKGROUND: Pickering emulsions are known to have advantages over conventional emulsions, in particular, improved and long-term stability against coalescence. This research is an eight-year stability investigation of oil-in-water Pickering emulsions stabilized by quinoa starch granules modified by octenyl succinic anhydride (OSA). Two different concentrations of starch (i.e. 200 and 600 mg mL−1 ba

Background: National guidelines are important instruments in reducing inappropriate antibiotic prescriptions. Low adherence to guidelines is an acknowledged problem that needs to be addressed. Method: We evaluated established characteristics for guidelines in the guidelines for lower respiratory tract infection, acute otitis media and pharyngotonsillitis in primary care. We studied how doctors use

The de novo synthesis of the amino acid l-serine plays an essential role in the development and functioning of the central nervous system (CNS). l-Serine displays many metabolic functions during different developmental stages; among its functions providing precursors for amino acids, protein synthesis, nucleotide synthesis, neurotransmitter synthesis and l-serine derived lipids. Patients with cong

During red blood cell (RBC) lysis hemoglobin and heme leak out of the cells and cause damage to the endothelium and nearby tissue. Protective mechanisms exist; however, these systems are not sufficient in diseases with increased extravascular hemolysis e.g. hemolytic anemia. α1-microglobulin (A1M) is a ubiquitous reductase and radical- and heme-binding protein with antioxidation properties. Althou

Objective: To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Study design: A retrospective study of 15 fasting and 6 fat-loading tests in 15 Dutch patients with SCADD, divided into 3 genotype groups. Metabolic and endocrinologic measurements and the biochemical characteristics of SCADD, ethylmalonic acid (EMA), an

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a

Lysosomal storage disorders (LSDs), a heterogeneous group of inborn metabolic disorders, are far more common than most doctors presume. Although patients with a severe LSD subtype are often readily diagnosed, the more attenuated subtypes are frequently missed or diagnosis is significantly delayed. The presenting manifestations often involve the bones and/or joints and therefore these patients are

Objective: Exclusively breastfed infants with unrecognised cholestatic jaundice are at high risk of a vitamin K deficiency (VKD) bleeding. It is presently unknown whether (the size of) this risk depends on the degree of cholestasis. Since alpha-1-antitrypsin deficiency (A1AD) induces a variable degree of cholestasis, we assessed the risk of VKD bleeding in infants with cholestatic jaundice due to

Three-phosphoglycerate dehydrogenase (3- PGDH) deficiency is a rare recessive inborn error in the biosynthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF). Only two m

Background: The clinical severity of phenylalanine hydroxylase deficiency is usually defined by either pre-treatment phenylalanine (Phe) concentration or Phe tolerance at 5 years of age. So far, little is known about the course of Phe tolerance or the ability of both pre-treatment Phe and Phe tolerance at early age to predict Phe tolerance at later age. Aim: This study was conducted to investigate