Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.

The identification of cystic fibrosis screening-positive, inconclusive diagnosis (CFSPID) in infants is a controversial outcome of newborn screening for cystic fibrosis (CF). Today, despite improvements in the knowledge of CFSPID and the description of several cohorts, little data are available on cohorts with a follow-up period of more than 6 years. In this study, we report the outcomes of an Italian cohort of CFSPID individuals with CFSPID or formerly CFTR-related disorders (CFTR-RD) (CFSPID > CFTR-RD) or diagnosed with CF (CFSPID > CF). This was an observational and multicentre Italian study collecting clinical data on CFSPID born between the period January 1, 2011, and December 13, 2019. A total of 268 participants were included: 243 with persistent CFSPID, 7 with CFSPID > CFTR-RD, and 18 with CFSPID > CF. The trend of sweat chloride (SC) values, percentage of definitive diagnoses, lung function in school-aged children, and development of CF-related complications were evaluated. At the end of the observation period, almost 80% of the individuals with CFSPID did not have a conclusive diagnosis. A total of 29 children (10.8%) transitioned to a diagnosis of CF for pathological SC values (≥ 60 mmol/L) or multi-organ involvement, and 18 (6.7%) to CFTR-RD. Children who were followed up for > 6 years (median age, 7.5 years; range, 6.04-10.5) had normal lung function and were pancreatic sufficient, and the evolution in CF was only present in two cases. CONCLUSION: Most Italian preschool and school-aged children with CFSPID did not have a conclusive diagnosis, and progression to CF was unlikely in children > 6 years of age. An annual follow-up could be indicated to identify early evolution in clinical features consistent with a CFTR-RD. WHAT IS KNOWN: • Cystic Fibrosis newborn screening identifies also subjects with an inconclusive diagnosis (CFSPID). • Over time a variable percentage of CFSPIDs will be diagnosed as CF. • Little data is available on CFSPIDs with a follow-up period of more than six years. WHAT IS NEW: • 80% of Italian preschool and school-age CFSPIDs not have a conclusive diagnosis. • Italian preschool and school-age CFSPIDs have normal lung function and are pancreatic sufficient. • Annual follow-up after 6 years is recommended in CFSPID with abnormal LCI2.5 or with a CF-causing variant in trans with a VVCC.

Vertebral mineral density measured by dual-energy X-ray absorptiometry (DEXA) in a group of healthy Italian boxer dogs.

We studied the feasibility of using dual-energy X-ray absorptiometry (DEXA) to obtain reference bone density values in relation to age, gender and body weight in growing and young adult Italian boxer dogs. The study was performed on eight animals (three males and five females) at 7, 12 and 18 months of age. Animals were carefully examined and blood samples were collected from each dog to detect any sign of metabolic and/or endocrine disease. Each subject underwent radiographs to evaluate growth of the spine and hip. One female was not considered in the statistical model because of the development of grade 4 spondylosis deformans during the study period. All animals were serially scanned using DEXA; the region of interest was the whole spine T12-L2, while the subregions of interest were the four vertebrae (T12-T13-L1-L2) within the scanned spine. Statistical analysis was performed separately for each region of interest. Age had the strongest relationship with bone density (P < 0.001). Gender effect on spinal mineral density was not significant while vertebral site effect was highly significant. Average bone mineral density (BMD) +/- SD for the whole spine trait was 0.862 +/- 0.108 g/cm2 while average BMD +/- SD for subregions of interest ranged from 0.836 +/- 0.141 g/cm2 for T12 to 0.928 +/- 0.119 g/cm2 for L2. Estimated reference BMD values at 7, 12 and 18 months of age for each vertebral site in males and females are provided.

Prevalence of spondylosis deformans and estimates of genetic parameters for the degree of osteophytes development in Italian Boxer dogs.

The aim of this study was to assess the prevalence of spondylosis deformans and to investigate genetic aspects of the degree of osteophytes development (DOD) in the Italian Boxer dog population. A total of 849 Boxer dogs was radiographed on the thoracic, lumbar, and sacral regions of the spine and scored for DOD. Grading of DOD was performed for all 20 intervertebral sites comprised within the first thoracic site (site T1-T2) and the site between the seventh lumbar and the first sacral vertebra (site L7-S1). Scores for DOD ranged from 0 (no osteophytes development) to 3 (presence of a bony spur formed by osteophytes on adjoining vertebrae). The first five thoracic sites exhibited no variation for DOD and were not considered in the analysis. The prevalence of spondylosis deformans was 84%, and frequency of dogs showing at least one intervertebral site that scored 3 for DOD was 50%. Scores for DOD at different sites were analyzed as different traits. Nongenetic effects influencing DOD scores were sex, age at screening, and the kennel. Posterior densities of heritability (h2) were estimated using a univariate Bayesian analysis. Eight sites exhibited a posterior probability greater than 0.8 for h2 > 10% and were considered in a multivariate restricted maximum likelihood analysis. Estimated h2 from multivariate analysis ranged from 25 to 48% (SE from 5 to 7%). Three sites exhibited h2 estimates greater than 40%. Genetic correlations for DOD scored at different sites ranged from 0.07 to 0.96. All thoracic sites had estimated correlations larger than 0.85 with other thoracic sites. Genetic correlation between the first and the second lumbar site was 0.91. Correlations between thoracic sites and the first two lumbar sites ranged from 0.5 to 0.9. Sites L6-L7 and L7-S1 also exhibited weak relationships with all remaining sites. Breeding values of dogs for DOD at the eight sites were predicted using estimated covariance matrices. A selection index for DOD was computed from predicted breeding values and a set of relative weighting factors produced by a panel of veterinarians. The index was the most important effect influencing phenotypic differences between dogs for average DOD score, number of affected sites, and number of sites with a DOD score > 1 (P < 0.001). The degree of osteophytes development is a trait showing exploitable additive genetic variance, and breeding programs for decreasing prevalence and severity of spondylosis deformans might focus on this trait.

[Infantile acute hemorrhagic edema (IAHE). A report of a new clinical case]. / Edema Emorragico Infantile Acuto (EEIA). Descrizione di un nuovo caso clinico.

The authors describe a new case of infantile acute haemorrhagic oedema in a six-month-old child. Even being a vasculitis the authors do not retain to assimilate it to the Schönlein-Henoch syndrome.

[New problems of adolescents: perspectives for the intervention of the pediatrician]. / Le nuove problematiche adolescenziali: prospettive per l'intervento del Pediatra.

The Pediatrician is daily in contact with a large number of adolescents, and therefore is able to recognize those who display behavioural problems. The Pediatrician is often asked for advice in order to solve practical problems such as the choice of school, the practice of sports, ecc. His advice is somehow conditioned by his previous experiences as an adolescent and, if he is a parent himself, by his present familial situation. In the last years, the problems of the adolescents and the fears of their parents have changed, the main concern being today the one for work, due to the high levels of unemployment and underemployment affecting our society. In this situation, some of the most frequent attitudes of parents towards adolescents seem to be erroneous, such as asking them for social success at any cost (e.g. attending unwelcome studies or performing inappropriate sports). This leads to failures that often prove to be unbearable for young people not trained to face and overcome frustration. Parents also seem often to underestimate the possibility of their own "child" being involved in episodes of hooliganism, shoplifting, violence like the ones daily described by the media. The excessive idealization of adolescents by their parents seems to be one of the main causes of this situation. The Pediatrician can intervene with advice, in order to orientate adolescents towards realistic life objectives and a satisfactory development of their personality.

Growth hormone (GH) response to GH-releasing hormone in short children: lack of correlation with endogenous nocturnal GH secretion.

The growth hormone (GH) response to iv administration of GH-releasing hormone (GHRH, 0.3 microgram/Kg) was evaluated in 21 short children (13 boys and 8 girls, age 6.7-13.8 yr). Fourteen had familial short stature and/or constitutional growth delay, one had coeliac disease, and 6 were ultimately diagnosed as non-classical GH deficiency or neurosecretory dysfunction on the basis of subnormal integrated spontaneous GH concentrations (ICGH). The response was compared with 12-h spontaneous GH secretion measured every 30 min from 20:00 to 08:00. Mean ICGH ranged from 2.0-17.7 micrograms/l, with a maximum nocturnal GH peak ranging from 5.4-74 micrograms/l. The maximum GH peak after GHRH ranged from 9.4-50 micrograms/l, and the area under the curve (AUC) from 406-3012 micrograms.min/l. No correlation was found between the maximum GH peak and the AUC after GHRH and the maximum overnight GH peak, the ICGH and the overnight AUC. This study confirms that the GH response to GHRH is highly variable among short children with a wide range of spontaneous GH secretion, and that this response is not correlated with the spontaneous ability to secrete GH.

Prevention of cisplatin-induced vomiting in patients with cancer. A pilot study with a multiagent protocol.

Forty patients receiving a total of 102 courses of cisplatin (CDDP)-based treatment were observed in the present study. The patients received an antiemetic prophylaxis with metoclopramide (6 mg/kg), dexamethasone (12 mg/m2), lorazepam (2.5 mg), promethazine (50 mg), and diazepam (10 mg). Complete protection from acute vomiting was obtained in 77.5% of patients during the first course, and partial protection (1 to 3 episodes of vomiting) was observed in 10.1% additional cases. Complete protection was achieved in 84.6% of males vs 57.1% of females. Patients at their first course of chemotherapy had 80% complete protection compared to 66.7% in those who received prior chemotherapy. No differences in the response rate between patients treated with high versus patients receiving low doses of CDDP were noted. The same pattern of response was observed in subsequent courses of therapy. Side effects were minimal (mild sedation in almost all the cases and hiccups in a few cases). No major extrapyramidal reaction was observed. The regimen used in the study showed good efficacy in preventing acute CDDP-induced nausea and vomiting. Moreover, the very low incidence of major side effects makes this protocol safe and recommendable in patients undergoing CDDP chemotherapy.

[Cranial injury in children]. / Traumi cranici pediatrici.

The Authors report personal experience in management of 23 children after severe head injury. All patients were submitted to TC scanning and their performance status was evaluated according to Glasgow Coma Scale (G.C.S.). All children were treated with hyperventilation, steroids, mannitol and, when necessary, Penthobarbital (TPS). Authors present the outcome at a distance of 6 months from trauma's beginning.