Search

CONTEXT: In Italy, the surveillance of congenital hypothyroidism (CH) is performed by the Italian National Registry of Infants with CH (INRICH). Up to now, about 3600 infants with CH are recorded in the INRICH, and a high number of twins are included. OBJECTIVE: Our objective was to estimate the risk of CH in multiple and single deliveries and to compare neonatal features of CH twins with twins from the general population. DESIGN: The Italian population of CH infants recorded in the INRICH from 1989-2000 was investigated. RESULTS: A more than 3-fold higher frequency of twins was found in the CH population than in the general population, and for the first time, it was possible to estimate the CH incidence in multiple (10.1 in 10,000) and single deliveries (3.2 in 10,000 live births). Significantly higher frequencies of in situ gland as well as lower TSH mean level at screening were found in twin than in singleton CH babies. The concordance rate for permanent CH was very low (4.3%) and due to only three concordant couples. However, a high recurrence risk for CH was estimated in siblings of affected babies recorded in the INRICH, including twins considered as siblings. CONCLUSIONS: The high CH incidence observed in twins is worthy of interest for the high number of induced pregnancies in Italy as well as in other Western countries. Moreover, the low concordance rate for CH among twins together with a high recurrence risk for the disease among siblings indicates that environmental risk factors may act as a trigger on a susceptible genetic background in the etiology of the disease

Treatment with folic acid and vitamin B 12 appears to be effective in lowering total plasma Homocysteine (tHcy) concentration, but whether vitamin B 12 alone decreases tHcy in patients with normal vitamin B 12 status is still unknown. The aims of the present study were to explore the effect of alternate vitamin supplementation with folic acid or vitamin B 12 on tHcy concentrations in haemodialysis (HD) patients, and to compare changes in tHcy concentrations with MTHFR genotype.74 patients, 44 men and 30 women, were recruited and randomized blindly into two groups of 37 subjects each. The first group was initially treated with vitamin B 12 for two months, and with folic acid for the following two months; the second group was supplemented in the reverse order. In both groups the treatment was followed by a 2-month washout period. tHcy levels were measured at the beginning of treatment (T0), after two months (T1), four months (T2), and at the end of the washout period (T3). Vitamin B 12 and folate were taken at T0 and T3.The genotype frequency was: C/C 37%, C/T 34%, T/T 29%. tHcy decreased in both groups following the alternate vitamins therapy. This decrease was greater for the T/T genotype (p0.05) and was more significant when the treatment start-ed with folic acid (p0.01). Moreover, after the washout period, tHcy increased remarkably without significant differences between diffusive and convective techniques. Folate levels at the end of study appeared to be reduced in haemodialysis patients. Vitamin B 12 concentration significantly increased in patients on diffusive haemodialysis, confirming the fundamental role of membrane performance.The alternate vitamin treatment demonstrated the importance of folate therapy and the secondary contribution of vitamin B 12 in lowering tHcy in HD patients.

On the basis of data collected in the National Register of infants with congenital hypothyroidism (CH), a mean incidence of 1 case of CH to 3200 live births has been estimated in Italy. Nevertheless a higher incidence (1:2000) than national mean value has been observed in several districts of our country. The aim of this study was to verify a possible occurrence of transient hypothyroidism (TH) in these areas. Results of our study showed that the proportion of infants with thyroid in situ was significantly higher in the areas with very high CH incidence than in the remaining parts of the country. Also serum TSH levels at confirmation showed a less severe hypothyroidism in infants of these areas when compared with the other CH infants. Furthermore, preliminary results of diagnosis reevaluation showed 58% of TH in the areas with CH incidence1:2000. Lower percentages of TH have been observed in the other areas in relation to the decreasing of CH incidence. Most of the high CH incidence areas are historically affected by iodine deficiency. This observation supports the hypothesis that iodine deficiency can contribute to the occurrence of transient disorders of thyroid function in our population and stresses the need of promoting diffusion of an adequate iodine prophylaxis.

Maternal and child health represents one of the most relevant fields of interest in public health and particular attention is given to congenital pathologies. In Italy, the incidence of congenital hypothyroidism (CH) is 1:3200 live birth. CH is diagnosed at birth by neonatal thyroid screening. This allows a precocious onset of substitutive therapy which avoids severe psychomotor deficits in infants with CH. Moreover, the newborn screening program have permitted to identify transient disorders of thyroid function in newborns. These are essentially due to neonatal, maternal and environmental risk factors, especially iodine deficiency. The National Register (NR) of infants with CH was established in 1987. The aim of the NR is to provide disease surveillance and to monitor efficiency and effectiveness of neonatal screening. Furthermore, the NR represents an useful tool for developing epidemiological studies to identify possible environmental and/or familial risk factors of CH.

Sensor-based technological therapy devices could be a possible neurorehabilitation strategy for motor rehabilitation in patients with stroke during the post-acute hospitalization, especially for treating upper extremities function limitations. The audio-visual feedback devices are characterized by interactive therapy games that allow training the movement of shoulders, elbows, and wrist, measuring the strength and the active range of motion of upper limb, registering data in an electronic database to quantitatively monitoring measures and therapy progress. This study aimed to investigate the effects of sensor-based motor rehabilitation in add-on to the conventional neurorehabilitation for improving the upper limb functions in patients with subacute stroke. Thirty-seven patients were enrolled in the study and randomly assigned to the experimental group and the control group. The training consisting of twelve sessions of upper limb training compared with twelve sessions of upper limb sensory-motor training, without robotic support. Both rehabilitation programs were performed for 40 minutes three times a week, for 4 weeks, in addition to conventional therapy. All patients were evaluated at the baseline (T0) and after 4 weeks of training (T1). The within-subject analysis showed a statistically significant improvement in both groups in all clinical scales. The analysis of effectiveness revealed that, compared with baseline (T0), the improvement percentage in the Modified Barthel Index was greater in the experimental group than the control group. The use of a sensor-based training with audio-video-feedback could be a useful complementary strategy for improving upper limb motor functions in patients with stroke during post-acute neurorehabilitation.&nbsp

We reviewed the diagnostic accuracy of SARS-CoV-2 serological tests. Random-effects models yielded a summary sensitivity of 82% for IgM, and 85% for IgG and total antibodies. For specificity, the pooled estimate were 98% for IgM and 99% for IgG and total antibodies. In populations with ≤ 5% of seroconverted individuals, unless the assays have perfect (i.e. 100%) specificity, the positive predictive value would be ≤ 88%. Serological tests should be used for prevalence surveys only in hard-hit areas.

ContextNewborn screening program for congenital hypothyroidism (CH) adopting rescreening in at-risk neonates.ObjectivesTo estimate the concordance rate for CH in twin pairs discordant at the first screening; to verify whether long-term follow-up of healthy cotwins belonging to CH discordant pairs may be useful to diagnose thyroid hypofunction during development; to evaluate the importance of genetic and environmental influences on liability to permanent and transient CH.Design and PatientsForty-seven screening discordant twin pairs were investigated. Proband was defined as the twin in the pair with a positive test at the first screening and a confirmed diagnosis of CH.ResultsSeven screening discordant twin pairs became concordant for CH within the first month of life (pairwise concordance of 14.9%) because seven screening negative cotwins showed high TSH values when retested. During long-term follow-up (range, 3 to 21 years), hypothyroidism was diagnosed in two monozygotic screening negative cotwins at the age of 9 months and 12 years, respectively. Furthermore, the twin analysis showed that 95% of liability to transient CH was explained by genetic factors and 5% by environmental (unshared) factors, whereas 64% of phenotypic variance of permanent CH was explained by common environmental factors (shared during the fetal life) and 36% by unshared environmental factors.ConclusionsThis study showed that the introduction of rescreening permits the diagnosis of CH in a greater number of twins. It also showed the importance of long-term follow-up in both twins in the pair, and the role of nongenetic factors in the etiology of permanent CH.