Neonatal screening, also called newborn screening (NBS), allows the early detection and clinical management of newborns with a range of health conditions.
The date for this international NBS day was chosen in honor of Dr. Robert Guthrie, whose birthday is June 28th. In the United States in the 1960s, Dr Guthrie developed the first NBS test for phenylketonuria (PKU), using a drop of blood collected on blotting paper. This blotting paper technique is still used today in all NBS programs. The blood sample is usually collected in the first 3 days of life from the newborn’s heel, or sometimes from their hand.
Technological advances now allow the screening of up to 50 disorders from just a few dried blood spots! Most of these are congenital metabolic disorders and endocrine disorders.
France was a pioneer in NBS, with the setting up of a national screening program in 1972. Since then, more than 35 million newborns have been screened, allowing earlier management of more than 23,500 individuals. In France, the cost of NBS is 100% covered by the health insurance system. NBS is not mandatory, but “refusing screening would be highly detrimental for the child” (Haute Autorité de Santé, HAS).
Six rare diseases are currently screened as part of the NBS program in France: phenylketonuria (PKU), congenital hypothyroidism (CH), sickle cell disease (SCD; overseas, and in mainland France if risk factors identified), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF) , and medium-chain acyl-CoA dehydrogenase deficiency. However, this is much fewer than the more than 20 diseases screened in some European countries, such as in Italy where the NBS program includes up to 31 diseases!
The HAS recommends adding 7 inborn errors of metabolism to the French national NBS program: maple syrup urine disease (MSUD), homocystinuria (HCY), type 1 tyrosinemia (TYR-1), type 1 glutaric aciduria (GA-1), isovaleric acidemia (IVA), long chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and carnitine uptake defect (CUD).
June the 27th is World Microbiome Day. This yearly event aims to raise awareness of the diversity of human, animal and environmental microbiomes, and of their effects on health. Our medical writers at Santé Active Edition – Synergy Pharm have participated in the writing of several scientific articles and reviews on the skin and intestinal microbiomes, highlighting their vital importance for human health, most notably in acne, atopic dermatitis, rosacea, wound healing, and in intestinal disorders. In addition, microbiomes in the environment play a fundamental role in maintaining the balance needed for healthy ecosystems.
Today is MedComms Day! We would like to take this opportunity to tell you about our core business activity: medical and scientific writing.
Our medical communication agency has been serving the pharmaceutical and cosmetics industries, biotech companies, manufacturers of medical devices, healthcare professionals, and the wider scientific research community for more than 30 years. How? Medical communication, and particularly the writing of regulatory and clinical documentation related to the development of drugs and other healthcare products, is an integral part of these sectors.
Our team is passionate about scientific and medical writing: our profession is diverse and enriching with many various missions on many various themes!
Did you know that tobacco is the main risk factor for bladder cancer?
In 75% of cases, bladder cancer is non-invasive but 5-year progression (0.8% – 45%) and recurrence (31% – 78%) rates are high. Patients with this type of cancer must therefore undergo regular examinations to enable early treatment.
Several urinary tests have been developed to overcome the drawbacks of reference examination methods; in particular the invasive nature of cystoscopy, and the problems of sensitivity and of intra- and inter-observer reproducibility associated with cytology.
Malaria is caused by Plasmodium parasites. Among the 5 disease-causing parasite species, Plasmodium (P.) falciparum and P. vivax are the most widespread. They are transmitted to people through the bites of infected female Anopheles mosquitoes.
Every medical writer at Santé Active Édition – Synergy Pharm pays particular attention to keeping informed of new medical writing recommendations, including those concerning medical and scientific article writing.
About 450,000 people are newly diagnosed with colorectal cancer each year in Europe, and around 140,000 people died from the disease across the EU-27 in 2016. In France, more than 43,000 new colorectal cancer cases and more than 17,000 deaths are estimated to occur each year. Screening enables colorectal cancer to be uncovered at an early stage, and the earlier it is detected, the greater the chances of recovery (the 5-year survival rate is 90% for the early stages).