MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.

miRNA expression profile and predicted pathways involved in selected limb-girdle muscular dystrophy (LGMD)2A/2B patients were investigated. A total of 187 miRNAs were dysregulated in all patients, with six miRNAs showing opposite regulation in LGMD2A versus LGMD2B patients. Silico analysis evidence: (1) a cluster of the dysregulated miRNAs resulted primarily involved in inflammation and calcium metabolism, and (2) two genes predicted as controlled by calcium-assigned miRNAs (Vitamin D Receptor gene and Guanine Nucleotide Binding protein beta polypeptide 1gene) showed an evident upregulation in LGMD2B patients, in accordance with miRNA levels. Our data support alterations in calcium pathway status in LGMD 2A/B, suggesting myofibre calcium imbalance as a potential therapeutic target. Copyright © 2016 John Wiley & Sons, Ltd.

Down syndrome and breastfeeding.

AIM: The aim of the study was to investigate the frequency of breastfeeding among children with Down syndrome. METHODS: The mothers of 560 children with Down syndrome attending four university hospitals in Italy were interviewed and the neonatal clinical records retrieved. Information was collected on the type of infant feeding and on why some mothers had not breastfed their children. Two groups of healthy children whose feeding habits had been previously investigated were recruited as control subjects (1601 and 714, respectively). A paediatrician in each hospital was interviewed about the neonatal admission policy of children with Down syndrome. RESULTS: Among the 560 Down children, 246 (44%) were admitted to the neonatal unit. Compared with the two control groups, children with Down syndrome were significantly more frequently bottle-fed (57% vs 15% and 24%, respectively, odds ratio 7.5, 95% CI 6.0-9.4 and 4.2, 95% CI 3.3-5.4. respectively). Only 30% of infants admitted to the neonatal unit were breastfed. The main reasons reported by the mothers for not having breastfed were infants' illness in infants who had been admitted to the neonatal unit and frustration or depression, perceived milk insufficiency and difficulty with suckling for those babies who had not been admitted to the unit. The paediatricians reported that the admission of a baby with Down syndrome to the neonatal unit could sometimes take place not for medical reasons, but for diagnostic work-up or for a more appropriate diagnosis and to maintain communication with the family. CONCLUSIONS: Down syndrome babies are less frequently breastfed compared with healthy children. Support in breastfeeding should become a relevant point of health supervision for children with Down syndrome.

Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age.

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0-14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive improvement of growth in children with DS, as shown in other recent reports. The purpose of this study was also to create a "normal growth pattern" useful to evaluate DS children and also to diagnose early pathologic conditions affecting growth, such as autoimmune diseases.

[Primary hyperparathyroidism and peptic ulcer]. / Iperparatiroidismo primitivo ed ulcera peptica.

The prevalence of peptic ulcer disease was retrospectively analysed in 35 patients affected by primary hyperparathyroidism consecutively observed from 1977 through 1987. Eight of the examined patients (22.8%) had peptic ulcer (7 duodenal and 1 gastric ulcer), that in five cases (14%) represented the first clinical manifestation of the endocrine disease. A Zollinger-Ellison syndrome was demonstrated in three cases (8.5% of the total series, 37% of the patients with ulcer). There was no difference in calcium, gastrin and parathormone serum level between patients with and without ulcer, excluding patients with Zollinger-Ellison syndrome. These data confirm the high prevalence of peptic ulcer disease in hyperparathyroidism, but the mechanism causing this association remains to be elucidated.

[Radioimmunologic determination of circulating parathyroid hormone in patients with primary and secondary hyperparathyroidism]. / Determinazione radioimmunologica del paratormone circolante in pazienti con iperparatiroidismo primitivo e secondario.

A radioimmunological evaluation was made of plasma parathormone (PTH), using an antibody against the C-terminal fraction, in 14 subjects with primary parahyperthyroidism, and in 19 anuric subjects with secondary forms on three-weekly dialysis. In all cases, values were significantly higher (p less than 0.01) than in a group of normal controls. In secondary forms, the same significance was also apparent on comparison with primary forms, probably due to an absence of renal clearance of the hormone.

[Basal prolactinemia and level after stimulation with TRH in juvenile gynecomastia]. / La prolattinemia basale e dopo stimolo con TRH nella ginecomastia giovanile.

TSH and PRL in basal conditions and after stimulus with TRH, gonadotrophin in basal conditions and after stimulus with GnRH, plasma testosterone, urinary oestrogens and peripheral thyroid hormones have been evaluated in 11 subjects with puberal gynaecomastia, 7 with post-puberal gynaecomastia and 14 normal controls. With respect to the normal controls, only patients with post-puberal gynaecomastia showed higher levels of basal PRL and after TRH stimulus. The behaviour of these patients could suggest that in subjects with post-puberal gynaecomastia there may be persistent endocrine imbalance, whereas in puberal gynaecomastia such imbalance is only transitory and is exhausted prior to the onset of mammary tumefaction.

[Cardiotoxicity induced by 5-fluorouracil. A case report]. / Cardiotossicità da 5-fluorouracile: descrizione di un caso clinico.

A case of ischemic cardiopathy which was observed after 5-fluorouracil administration for a carcinoma of the small intestine is described.