Transplantation to save the life, TSH screening to save the brain: A report and brief literature review of autoimmune thyroid disease after HSCT for severe combined immunodeficiency.

Autoimmune thyroid disease has been described as a complication of HSCT for different indications and as a manifestation of inborn errors of immunity, like SCID. A 1-month female was diagnosed with RAG1-mutated SCID and received allogenic HSCT. She developed autoimmune hypothyroidism 5 months after transplantation and was treated with levo-thyroxine with a good response. Autoimmune thyroid disease can develop after HSCT during the immune reconstitution phase, leading to potentially severe neurological and growth impairment, particularly in SCID patients, often transplanted during the first year of life. Recommendations regarding early and frequent vigilance for thyroid function are needed in these patients.

A genetic epidemiology study of congenital adrenal hyperplasia in Italy.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals. We applied this approach to 2 independent Italian cohorts of patients with both clinical and molecular diagnosis of 21OHD-CAH from mainland Italy (N = 240) and Sardinia (N = 53). We inferred q estimates of 2.87% and 1.83%, corresponding to a prevalence of 1/1214 and 1/2986, respectively. CYP21A2 mutational spectra were quite discrepant between the 2 cohorts, with V281L representing 74% of all the mutations detected in Sardinia vs 37% in mainland Italy. These findings provide an updated fine-grained picture of 21OHD-CAH genetic epidemiology in Italy and suggest the need for a screening approach suitable to the detection of the largest number of clinically significant forms of CAH.

Upper body aerobic fitness comparison between two groups of competitive surfboard riders.

The aim of the present study was to evaluate and compare the upper-body aerobic fitness characteristics in 2 groups of competitive surfers with different performance levels. Thirteen male competitive surfers performed an incremental dry-land board paddling test to determine specific peak oxygen uptake (VO2peak), peak power output (Wpeak) and the exercise intensity (%VO2peak) that elicits a blood lactate concentration of 4 mmol x L(-1) (LT4). As a measure of surfing performance, surfers were ranked according to their competitive season performance (RANK) and divided into 2 groups based on their performance level; European top-level competitive surfers (ELS) (n = 7) and regional level competitive surfers (RLS) (n = 6). ELS reached significantly higher values than RLS for Wpeak (154.71 +/- 36.82 W vs. 117.70 +/- 27.14 W: P = 0.04) and LT4 (95.18 +/- 3.42 %VO2peak vs. 88.89 +/- 5.01 %VO2peak; P = 0.02) but not VO2peak (3.34 +/- 0.31 L x min(-1) vs. 3.40 +/- 0.37 L x min(-1); P = 0.77). Spearman-rank order correlation analysis revealed that RANK was inversely correlated with Wpeak (r = -0.65, P = 0.01) and LT4 (r = -0.58, P = 0.03). These findings identify that better surfers have higher upper body aerobic fitness scores.

Genetic variation in the renin-angiotensin system and athletic performance.

The D allele at the angiotensin-I-converting enzyme (ACE)-insertion/deletion polymorphism has been associated with an increased risk of developing several pathological processes, such as coronary heart disease and ventricular hypertrophy. Individuals with the DD genotype show a significantly increased left-ventricular mass in response to physical training, compared to the II genotype (which would be associated with the lowest plasma ACE levels) and the ID genotype. The II genotype has been linked to a greater anabolic response. In accordance with a role for ACE in the response to rigorous physical training, a higher frequency of the I allele has been reported to exist among elite rowers and high-altitude mountaineers. Sixty elite (professional) athletes (25 cyclists, 20 long-distance runners, and 15 handball players), and 400 healthy controls were genotyped for the DNA polymorphisms of the ACE, angiotensinogen (Ang) and angiotensin receptor type 1 (AT1) genes. Plasma ACE levels showed a strong correlation with the I/D genotype in our population. The I-allele occurred at a significantly higher frequency in athletes compared to controls (P = 0.0009). Gene and genotype frequencies for the Ang and AT1 polymorphisms did not differ between athletes and controls. Since the frequency of the ACE I allele was significantly increased among our elite athletes, we conclude that the ACE polymorphism represents a genetic factor that contributes to the development of an elite athlete.