Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease - megaloblastic anemia, early onset deafness, and non-type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania - a 3-year-old boy born to a non-consanguineous family with a novel homozygous SLC19A2 gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100 mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of SLC19A2 gene molecular testing confirmed the clinical diagnosis - novel homozygous c.[205G>T], p.[(Val69Phe)] mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition.
Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.
Backgound: Stress system consists of the hypothalamic-pituitary-adrenal (HPA) axis and the locus caeruleus/norepinephrine-autonomic nervous system (ANS). Traditionally, HPA axis activity is evaluated by measuring its end-product cortisol while the activity of ANS is assessed using heart rate variability (HRV) indices. Alterations in cortisol levels and HRV measures during laboratory-based stress tasks were extensively studied in previous research. However, scarce data exist on the associations of HRV measures with the levels of other adrenal steroid hormones under baseline conditions. Thus, we aimed to evaluate the activity of HPA axis by measuring salivary cortisol, cortisone, dehydroepiandrosterone (DHEA) levels and their ratios and to examine its association with HRV measures in a sample of healthy young and middle-aged adults. Methods: For each participant (n=40), three data collection sessions taking place at the same time of the day were scheduled within five working days. Participants completed a self-reported questionnaire on sociodemographic and lifestyle characteristics, filled out Perceived Stress Scale and State-Trait Anxiety Inventory. Also, saliva samples were collected and physiological measures including resting HR and HRV were recorded during three data collection sessions. Results: Statistically significant associations between diminished parasympathetic vagal tone evaluated by time-domain HRV measures and higher salivary cortisol, lower DHEA levels, as well as increased DHEA to cortisol ratio were found. Also, physiological stress indicators (i.e. HRV) showed greater intrindividual stability compared with biochemical biomarkers (i. e. salivary steroid hormones) within the period of five days. Conclusions: Our findings suggest that both cortisol and DHEA mediate the link between two stress-sensitive homeostatic systems.
Various relaxation techniques could benefit from merging with virtual reality (VR) technologies, as these technologies are easily applicable, involving, and user-friendly. To date, it is unclear which relaxation technique using biofeedback combined with VR technology is the most effective. The study aimed to compare the effectiveness of brief VR-based biofeedback-assisted relaxation techniques including electroencephalographic biofeedback, mindfulness-based biofeedback, galvanic skin response biofeedback, and respiratory biofeedback. Forty-three healthy volunteers (age 34.7 ± 7.2 years), comprising 28 (65%) women and 15 (35%) men, were enrolled in the study. All the participants were exposed to four distinct relaxation sessions according to a computer-generated random sequence. The efficacy of relaxation methods was evaluated by examining psychological, physiological, and biochemical stress indicators. All VR-based relaxation techniques reduced salivary steroid hormone (i.e., cortisol, cortisone, and total glucocorticoid) levels and increased galvanic skin response values. Similarly, all interventions led to a significantly reduced subjectively perceived psychological strain level. Three out of the four interventions (i.e., electroencephalographic, respiratory, and galvanic skin response-based biofeedback relaxation sessions) resulted in a decreased self-reported fatigue level. We suggest that newly developed VR-based relaxations techniques are potential tools for stress reduction and might be particularly suitable for individuals who are not capable of adhering to a strict and time-consuming stress management intervention schedule.
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