A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype.

Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the ADA2/CECR1 gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at infancy/early childhood age. DADA2 syndrome encompasses pleiotropic manifestations such as stroke, systemic vasculitis, hematologic alterations, and immunodeficiency. Although skeletal abnormalities have been reported in patients with this disease, clear information about skeletal health, with appropriate biochemical-clinical characterization/management, its evolution over time and any appropriate clinical management is still insufficient. In this paper, after a general introduction shortly reviewing the pathophysiology of Ada2 enzymatic protein, its potential role in bone health, we describe a case study of two 27 year-old DADA2 monozygotic female twins exhibiting bone mineral density and bone turnover rate abnormalities over the years of their clinical follow-up.

Caesarean Birth in Romania: Safe Motherhood Between Ethical, Medical and Statistical Arguments.

The number of caesarean sections increased significantly in Romania. In 2012, caesarean sections accounted for 41.2% of total births, according to a study of the Romanian National School for Public Health. This estimation is in agreement with the statistical data on caesarean sections recorded in one of the most important hospitals in Bucharest, Romania, Filantropia Hospital. Many factors have influenced the large number and sharply increasing trend of caesarean sections, from the historical ones, with roots in the communist regime, when abortions were outlawed, to current day doctors' medical practices and mothers' beliefs and fears related to the process of labor and the newborn's health. This paper aims to examine the pros and cons for caesarean birth. The analysis is presented from three perspectives: expressed by the doctor/medical caregiver, the patient/mother and some of the third parties indirectly involved in the medical decision: the foetus/newborn, the hospital/medical unit and the society as a whole, knowing that ethics is beyond the legal, economic or administrative frames.