Familial diabetes of adulthood: A bin of ignorance that needs to be addressed.

AIMS: The aim of this article was to share with a wide readership some data and related reasoning about a multigenerational form of diabetes mellitus of adulthood. DATA SYNTHESIS: We have recently described a familial form of diabetes mellitus, which in the routine clinical setting of adult individuals is simplistically diagnosed as type 2 diabetes. Such misdiagnosis involves as much as 3% of adult unrelated diabetic patients with no evidence of autoimmune disease. More recent data, obtained by means of a next-generation sequencing, indicate that approximately 25% of such patients carry mutations in the genes involved in monogenic diabetes, thus leaving unraveled the molecular causes of the remaining 75% individuals. CONCLUSIONS: Our proposal is to define the latter patients as being affected by familial diabetes of adulthood (FDA), a clear admission of ignorance and a limbo where adult patients with multigenerational diabetes with no genetic definition of their hyperglycemia have to wait for better times.

Vision-Based Pose Estimation for Robot-Mediated Hand Telerehabilitation.

Vision-based Pose Estimation (VPE) represents a non-invasive solution to allow a smooth and natural interaction between a human user and a robotic system, without requiring complex calibration procedures. Moreover, VPE interfaces are gaining momentum as they are highly intuitive, such that they can be used from untrained personnel (e.g., a generic caregiver) even in delicate tasks as rehabilitation exercises. In this paper, we present a novel master-slave setup for hand telerehabilitation with an intuitive and simple interface for remote control of a wearable hand exoskeleton, named HX. While performing rehabilitative exercises, the master unit evaluates the 3D position of a human operator's hand joints in real-time using only a RGB-D camera, and commands remotely the slave exoskeleton. Within the slave unit, the exoskeleton replicates hand movements and an external grip sensor records interaction forces, that are fed back to the operator-therapist, allowing a direct real-time assessment of the rehabilitative task. Experimental data collected with an operator and six volunteers are provided to show the feasibility of the proposed system and its performances. The results demonstrate that, leveraging on our system, the operator was able to directly control volunteers' hands movements.

MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Mutations in the glucokinase (GCK) gene are the most frequent cause of maturity onset diabetes of the young (MODY) in Italy. We evaluated GCK mutations in 32 unrelated patients younger than 18 years who had been diagnosed with MODY. Eleven different GCK heterozygous mutations were identified in 22 (68.7%) of the 32 probands. Nine mutations were missense and two were nonsense. Three of these mutations (E17X, P59S and E372X) have not been described previously and were shown to be associated with hyperglycaemia. Several prediction methods suggested that the E17X and E372X mutations result in a premature truncated protein and that the P59S mutation is pathogenic. This idea was further supported by evidence suggesting that Proline 59 is a highly conserved amino acid residue and that the P59S mutation does not appear to be present in non-diabetic controls and in sequence variant databases. Furthermore, this mutation was found in six (27.3%) of the patients from the same geographical area, Gargano, pointing to the existence of a founder effect, which was confirmed by microsatellite analysis.

Slow growth of benign thyroid nodules after menopause: no need for long-term thyroxine suppressive therapy in post-menopausal women.

Benign thyroid nodules represent a very common disorder, the management of which is still controversial. The aim of the present work was to evaluate by ultrasound examination the volume changes of thyroid nodules in post-menopausal women presenting single palpable nodular goiter of recent onset (less than 6 months from diagnosis). Forty-three patients received L-T4-treatment, 38 represented the no-treatment group. Long-term follow up (3 and 5 yr) did not show any significant change in the mean volume nodule in these patients. In the no-treatment group, the mean nodule volumes were stable over time from baseline to 5 yr. No significant difference was observed at any follow-up evaluation between thyroid hormone treated and untreated patients. After 1 yr of treatment, a significant decrease (p = 0.0275) in mean nodule volume occurred only for nodules with a baseline volume lower than 1.5 ml. The frequency of clinically relevant nodule size variation showed a more frequent decrease (13.9%) at 1 yr in the L-T4 group, as compared to the no-treatment group (2.6%), while the proportion of increased volume at 1 yr was higher in the untreated than in the L-T4 group (5.3% vs 2.3%). This inverse relationship between the 2 groups was not statistically significant (p = 0.076). In conclusion, an arrest in the growth of benign thyroid nodules occurs in the majority of women after menopause. Only a very limited number of these patients may benefit from thyroid hormone suppressive treatment.

Iodine deficiency in Calabria: characterization of endemic goiter and analysis of different indicators of iodine status region-wide.

The distribution of goiter prevalence in schoolchildren (no.=13,984, age 6-14 yr), the neonatal TSH results obtained from the congenital hypothyroidism screening program and the urinary iodine excretion values (no.=284) were employed for the assessment of iodine deficiency in Calabria, a Southern Italy region. Data were collected during the years 1990-1996. In the inland territory, goiter prevalence ranged from 19 to 64%. At sea level, there was a great variability of goiter prevalence, with values varying from 5.3 to 25.7%. The analysis of the neonatal hypothyroidism screening program data (no.=21,078) showed a 14.8% frequency of TSH levels >5 microU/ml whole blood in newborns from the inland territory and a 14.1% frequency at sea level. Urinary iodine excretion resulted (mean+/-SD) 53.8+/-43.4 microg/l (range: <20 to 189 microg/l) in the inland territory and 89.6+/-59.8 microg/l (range: 26 to 333 microg/l) at sea level. Median urinary iodine excretion values in 13 villages or small towns of the inland territory ranged from 31 to 57 microg/l. In 2 major towns located at sea level, the median iodine excretion values were 72 microg/l in Crotone main city and 94 microg/l in Reggio Calabria main city. The data indicated that moderate, with pockets of severe iodine deficiency is present in the inland region while iodine supply varies from sufficient to marginally low in the coastal areas. Mild iodine deficiency was found in a major town located at sea level.

The statistical analysis of neonatal TSH results from congenital hypothyroidism screening programs provides a useful tool for the characterization of moderate iodine deficiency regions.

TSH data from the congenital hypothyroidism screening program were analyzed in a mild to moderate iodine deficiency region. Neonatal TSH levels were measured at day 4-5 of life in 22,384 infants (99% coverage; 51.1% males, 48.9% females). The cut off TSH value for recall was established at 20 microUl/ml whole blood. TSH values > 20 microUl/ml were excluded from further analysis of the data. The frequency distribution analysis showed that the median neonatal TSH level was 2 microUl/ml and the mode (28% of newborns) corresponded to neonatal TSH values < 1 microUl/ml. TSH levels above 5 microUl/ml were observed in 14.4% children and the 97% cut off was 11 microUl/ml. When examined in relation to the areas of newborn origin, the individual 97% cut off values varied from 8 to 14 microUl/ml. Accordingly, the frequency of TSH levels above the 97% cut off value calculated for the entire newborn series (> 11 microUl/ml) ranged from 2.1% to 4.6%. A significant correlation was found between the frequency of neonatal TSH levels > 11 microUl/ml and both goiter prevalence (r2 = 0.88; p = 0.0019) and median urinary iodine excretion (r2 = 0.86; p = 0.0077) observed in those areas for which epidemiological data were available (n = 7). The results indicate that neonatal TSH data from the congenital hypothyroidism screening programs can be used for monitoring mild to moderate iodine deficiency regions.