Stories of experiences of care for growth hormone deficiency: the CRESCERE project

AIMS: Growth hormone deficiency therapy is demanding for patients and caregivers. Teams engaged in the clinical management of growth hormone deficiency therapy need to know how families live with this condition, to provide an adequate support and prevent the risk of withdrawal from therapy. METHODS: Using Narrative Medicine, testimonies from patients, their parents and providers of care were collected from 11 Italian centers. Narrations were analyzed throughout an elaboration of recurring words and expressions. RESULTS: Although care management and outcomes were considered satisfying in the 182 collected narratives, recurring signals of intolerance among adolescents and the worry of not being well informed about side effects among parents are open issues. CONCLUSION: Narratives found that communication issues could decrease adherence and influence the physicians' clinical practice

Stories of experiences of care for growth hormone deficiency: the CRESCERE project

Growth hormone deficiency therapy is demanding for patients and caregivers. Teams engaged in the clinical management of growth hormone deficiency therapy need to know how families live with this condition, to provide an adequate support and prevent the risk of withdrawal from therapy. Methods: Using Narrative Medicine, testimonies from patients, their parents and providers of care were collected from 11 Italian centers. Narrations were analyzed throughout an elaboration of recurring words and expressions. Results: Although care management and outcomes were considered satisfying in the 182 collected narratives, recurring signals of intolerance among adolescents and the worry of not being well informed about side effects among parents are open issues. Conclusion: Narratives found that communication issues could decrease adherence and influence the physicians’ clinical practice

Pretreatment endocrine disorders due to optic pathway gliomas in pediatric neurofibromatosis type 1: Multicenter study

Context: Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade opticpathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and typeof endocrine disorders in NF1-related OPGs are scarce.Objectives: The aim of the study was to determine the prevalence of endocrine dysfunctions inpatients with NF1 and OPGs and to investigate predictive factors before oncological treatment.Design: Multicenter retrospective study.Settings and patients: Records were reviewed for 116 children (64 females, 52 males) with NF1and OPGs followed at 4 Italian centers.Main outcome measures: We evaluated endocrine function and reviewed brain imaging at thetime of OPG diagnosis before radio-and chemotherapy and/or surgery. OPGs were classifiedaccording to the modified Dodge classification.Results: Thirty-two children (27.6%) with a median age of 7.8 years had endocrine dysfunctionsincluding central precocious puberty in 23 (71.9%), growth hormone deficiency in 3 (9.4%),diencephalic syndrome in 4 (12.5%), and growth hormone hypersecretion in 2 (6.2%). In amultivariate cox regression analysis, hypothalamic involvement was the only independentpredictor of endocrine dysfunctions (hazard ratio 5.02 [1.802-13.983]; P =.002).Conclusions: Endocrine disorders were found in approximately one-third of patients withNeurofibromatosis type 1 and OPGs before any oncological treatment, central precocious puberty being the most prevalent. Sign of diencephalic syndrome and growth hormonehypersecretion, although rare, could be predictive of optic pathway gliomas in NF1. Tumorlocation was the most important predictor of endocrine disorders, particularly hypothalamicinvolvement

Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency

Objective: This Italian survey aims to evaluate real-life long-term efficacy and safety of recombinant human growth hormone (rhGH) therapy in children with short stature homeobox-containing gene deficiency disorders (SHOX-D) and to identify potential predictive factors influencing response to rhGH therapy. Design and methods: This is a national retrospective observational study collecting anamnestic, anthropometric, clinical, instrumental and therapeutic data in children and adolescents with a genetic confirmation of SHOX-D treated on rhGH. Data were collected at the beginning of rhGH therapy (T0), yearly during the first 4 years of rhGH therapy (T1, T2, T3 and T4) and at near-final height (nFH) (T5), when available. Results: One hundred and seventeen SHOX-D children started rhGH therapy (initial dose 0.23 ± 0.04 mg/kg/week) at a mean age of 8.67 ± 3.33 years (74% prepubertal), 99 completed the first year of treatment and 46 reached nFH. During rhGH therapy, growth velocity (GV), standard deviation score (SDS) and height (H) SDS improved significantly. Mean H SDS gain from T0 was +1.14 ± 0.58 at T4 and +0.80 ± 0.98 at T5. Both patients carrying mutations involving intragenic SHOX region (group A) and ones with regulatory region defects (group B) experienced a similar beneficial therapeutic effect. The multiple regression analysis identified the age at the start of rhGH treatment (β = -0.31, P = 0.030) and the GV during the first year of rhGH treatment (β = 0.45, P = 0.008) as main independent predictor factors of height gain. During rhGH therapy, no adverse event of concern was reported. Conclusions: Our data confirm the efficacy and safety of rhGH therapy in SHOX-D children, regardless the wide variety of genotype. Significance statement: Among children with idiopathic short stature, the prevalence of SHOX-D is near to 1/1000-2000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support rhGH therapy in SHOX-D children, but long-term data are still few. Our real-life data confirm the efficacy and safety of rhGH therapy in SHOX-D children, regardless of the wide variety of genotypes. Moreover, rhGH therapy seems to blunt the SHOX-D phenotype. The response to rhGH in the first year of treatment and the age when rhGH was started significantly impact the height gain

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

If we exclude the patients with Leri- Weill syndrome who presented a SHOX gene deletion in 5.4%, in our cohort of patients with ISS the incidence of SHOX gene point mutations was very low (1.5%), suggesting that the presence of mesomelia, minor skeletal abnormalities, and eventually subtle radiographic signs are essential for requiring genetic analysis properly

Management of Childhood-onset Craniopharyngioma in Italy: A Multicenter, 7-Year Follow-up Study of 145 Patients

none41Context: Nationwide data on children diagnosed with craniopharyngioma (CP) are not available in Italy. Objective: This work aimed to identify patients' characteristics, type of surgical approach, complications and recurrences, number of pituitary deficits, and number of patients starting growth hormone (GH) treatment. Methods: A retrospective multicenter collection took place of 145 patients aged 0 to 18 years who underwent surgery for CP between 2000 and 2018, and followed up in 17 Italian centers of pediatric endocrinology. Results: Age at diagnosis was 8.4 ± 4.1 years. Duration of symptoms was 10.8 ± 12.5 months and headache was most frequent (54%), followed by impaired growth (48%) and visual disturbances (44%). Most lesions were suprasellar (85%), and histology was adamantinomatous in all cases but two. Surgical approach was transcranial (TC) in 67.5% of cases and transsphenoidal (TS) in 31.%. The TC approach was prevalent in all age groups. Postsurgery complications occurred in 53% of cases, with water-electrolyte disturbances most frequent. Radiotherapy was used in 39% of cases. All patients but one presented with at least one hormone pituitary deficiency, with thyrotropin deficiency most frequent (98.3%), followed by adrenocorticotropin (96.8%), arginine vasopressin (91.1%), and GH (77.4%). Body mass index (BMI) significantly increased over time. A hypothalamic disturbance was present in 55% of cases. GH therapy was started during follow-up in 112 patients at a mean age of 10.6 years, and 54 developed a recurrence or regrowth of the residual lesion. Conclusion: CP is often diagnosed late in Italy, with TC more frequent than the TS surgical approach. Postsurgery complications were not rare, and hypopituitarism developed almost in all cases. BMI shows a tendency to increase overtime.noneZucchini S.; Di Iorgi N.; Pozzobon G.; Pedicelli S.; Parpagnoli M.; Driul D.; Matarazzo P.; Baronio F.; Crocco M.; Iudica G.; Partenope C.; Nardini B.; Ubertini G.; Menardi R.; Guzzetti C.; Iughetti L.; Aversa T.; Di Mase R.; Cassio A.; Cianfarani S.; Maghnie M.; Tuli G.; Loche S.; Bruzzi P.; Wasniewska M.; Salerno M.; Rutigliano I.; Iezzi M.L.; Cherubini V.; Grandone A.; Faienza M.F.; Tumini S.; Baldoli C.; Consales A.; Genitori L.; Marras C.E.; Milanaccio C.; Mortini P.; Vindigni M.; Zenga F.; Zucchelli M.Zucchini, S.; Di Iorgi, N.; Pozzobon, G.; Pedicelli, S.; Parpagnoli, M.; Driul, D.; Matarazzo, P.; Baronio, F.; Crocco, M.; Iudica, G.; Partenope, C.; Nardini, B.; Ubertini, G.; Menardi, R.; Guzzetti, C.; Iughetti, L.; Aversa, T.; Di Mase, R.; Cassio, A.; Cianfarani, S.; Maghnie, M.; Tuli, G.; Loche, S.; Bruzzi, P.; Wasniewska, M.; Salerno, M.; Rutigliano, I.; Iezzi, M. L.; Cherubini, V.; Grandone, A.; Faienza, M. F.; Tumini, S.; Baldoli, C.; Consales, A.; Genitori, L.; Marras, C. E.; Milanaccio, C.; Mortini, P.; Vindigni, M.; Zenga, F.; Zucchelli, M

Movement patterns of the limpet Cellana grata (Gould) observed over a continuous period through a changing tidal regime

Time-lapse videography of limpets mounted with light-emitting diodes was used to monitor the movements of a population of the non-homing Cellana grata on a vertical gully wall in Hong Kong. Animals were monitored for >7 days to examine spatial and temporal variation in their behaviour as the tides transited from a semi-diurnal to an almost diurnal pattern. Movement was synchronised with the tides, irrespective of the day-night cycles. Limpets rested low on the shore and were stimulated to move by the rising tide. Individuals moved up shore with the flooding tide, maintaining themselves in the awash zone, and then down shore on the ebbing tide, until they reached a resting height when the tide then fell beneath them, exhibiting 'zonal shuttling'. A tight coupling of limpet position to tide height persisted through the changing tidal pattern, and almost all animals displayed the same organisation of activity over all tides. Initiation of activity and maximum height reached were probably controlled by the tides, but the cessation of activity may have been controlled by an internal clock. The pattern observed is consistent with the threat of attack from aquatic predators coupled with the need to minimise physical stresses while exposed. It is also consistent with the avoidance of grazing lower on the shore where interspecific competition may be more intense. Limpets showed two peaks of activity per tide, corresponding to when the rate of change of tide height was the greatest, except when tides became much reduced during the transit to a diurnal pattern. Movement was triphasic: an initial rapid phase, followed by a slower phase in the high shore and then a rapid phase before the limpets stopped moving. This structure is common in limpets and in this case is likely to be a consequence of animals maintaining themselves within the awash zone. Tide height appears to determine foraging activity, but with modifications in the behaviour in response to factors operating at more local temporal and spatial scales. © Springer-Verlag 2006.link_to_subscribed_fulltex