Immacolata Rulli

Subclinical hypothyroidism: The state of the art

Subclinical hypothyroidism (SH) is a common clinical problem, particularly in adulthood and the elderly. Its prevalence is conditioned by several etiological and risk factors. The highest age- and sex-specific rates are in women over 60. SH may be associated with manifestations of mild thyroid failure, which may reverse under levothyroxine (L-T4) therapy. The risk of progression to overt hypothyroidism is distinctly higher in cases with underlying thyroid disease. A population routine screening is not generally recommended, but screening is encouraged in high-risk groups. L-T4 therapy may be indicated in subjects with TSH levels which are repeatedly and consistently elevated (>10 μIU/ml) and may be considered in those with TSH ranging between 4.5–5.5 and 10 μIU/ml, particularly if anti-thyroid antibodies are positive and/or hypothyroid symptoms are present. Treatment should be based, at least initially, on L-T4 low doses.

In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype

The spectrum of mutated alleles in non-classical congenital adrenal hyperplasia (NC-CAH) has been recently reported to be very large and haplotypes may significantly differ in the different ethnic groups. In order to confirm that population differences may exist in the genetic basis of this disease, we have analyzed the genetic presentation of NC-CAH in a Sicilian cohort of symptomatic patients and compared our findings with the ones reported in other studies of different ethnic groups. In 38 NC-CAH patients coming from two regions of Sicily and born of Sicilian parents, we found that 84.2% of the chromosomes examined bore only mild mutations and only the remaining 15.8% of the chromosomes bore at least 1 severe mutation. The overall predominant mutation was V281L, which was detected in 73.7% of alleles and in 89.5% of patients. About 58% of the patients were homozygotes for this mutation. V281L allele and homozygote frequencies were higher in the present series than in other European and Italian reports. In our NC-CAH population, which is one of the largest ever reported, the patients with two mild mutations exhibited a less severe impairment of both clinical and endocrine phenotype. On the basis of these results we can conclude that: a) in Sicilian ethnic groups NC-CAH is frequently associated with a very mild genotype; b) the most frequent genotype in our series is V281L homozygosis; c) clinical and biochemical expression of NC-CAH is more marked in the patients bearing a severe mutation; d) no correlations between genotype and phenotype were found in our patients affected by NC-CAH.

Menarcheal age in celiac disease may not be delayed and may be irrespective of age at diagnosis and dietary management

The aim of the present study was to evaluate the role played by age at diagnosis of celiac disease (CD), dietary management and menarcheal familiar antecedents in conditioning menarcheal age (MA) in CD. This study covers a population of 94 menarcheal adolescents with untreated CD, whose MA was compared with that of 3 control populations: the 1st consisting of 117 early-treated and compliant CD girls, the 2nd represented by their non-celiac mothers, and the 3rd consisting of 280 healthy adolescents. Average MA of the girls with post-menarcheal diagnosis of CD was superimposable to that of the patients with pre-menarcheal diagnosis and was no different from the one of their mothers or that of healthy controls. The prevalence of delayed menarche was similar in the patients with either pre-menarcheal or post-menarcheal diagnosis of CD. A direct correlation between patients’ MA and that of their mothers was detected in both groups of CD patients. We conclude that: a) untreated CD may not be associated with menarcheal retardation; b) MA in CD is significantly affected by maternal MA and may be irrespective of age at diagnosis and dietary management.

Melatonin Secretion Is Increased in Children with Severe Traumatic Brain Injury

Background: Traumatic brain injury (TBI) is a leading cause of death and disability in children. Oxidative stress plays a significant role in brain damage and melatonin exhibits both direct and indirect antioxidant effects. The primary aim of the present study was to evaluate serum melatonin levels in children with severe TBI in comparison to critically ill children admitted to the Pediatric Intensive Care Unit for conditions other than TBI. Methods: Twenty-four children were evaluated, equally divided into severe TBI and no-TBI. Blood samples for serum melatonin analysis were collected at 22:00, 01:00, 03:00, 05:00, 08:00, and 12:00. Results: Mean serum melatonin peaks in children of the TBI group were higher compared to the values of no-TBI critically ill children (495 ± 102 vs. 294 ± 119 pg/mL, p = 0.0002). Furthermore, the difference was even more significant in comparison to values reported in literature for healthy age-matched children (495 ± 102 vs. 197 ± 71 pg/mL, p < 0.0001). Conclusion: This study has shown that endogenous serum melatonin levels dramatically increase in children after severe TBI. This elevation is likely to represent a response to oxidative stress and/or inflammation due to severe head injury.

Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center

Nusinersen is the first approved drug to treat spinal muscular atrophy (SMA). Its periodic intrathecal delivery may cause psychological burden in infants and in their parents. We report our experience during expanded access program (EAP) for type 1 SMA in a single Italian center. Because of the occurrence of stress emotional states, anxious reactions and fear before, during, and after lumbar puncture (LP), a specific psychological intervention was implemented based on regulation of emotions, anticipatory expectations, and post-event attributions. Activities included the use of fairy tales, distraction, music play through listening preferred cartoon themes in the youngest children, and contextual games and solution of fun riddle quizzes in the oldest ones. State anxiety greatly reduced in children and their parents. Treatment of psychological aspects should therefore become an integral part of health care in SMA infants and children during Nusinersen treatment.