Camurati-Engelmann disease (CED) is an ultrarare autosomal dominant bone dysplasia. Cortical thickening of the diaphyses of the long bones with narrowing of the medullary cavity are associated with bone pain, waddling gait, muscular weakness, easy fatigability, and a marfanoid body habitus. There is no specific treatment for CED. Nonsteroidal anti-inflammatory drugs or glucocorticoids are ineffective in improving bone lesions. A family with a mild to severe form of CED is described. Two patients received long-term bisphosphonate treatment: the 19-year-old female proband was treated with zoledronic acid for 2.2 years; the 4-year-old male proband was treated with neridronic acid for 16 months and with zoledronic acid for an additional 18 months. In both probands, zoledronic acid treatment significantly improved the clinical symptoms, bone lesions, ambulation, and body habitus. Before treatment, both probands showed a marked increase in serum levels of osteocalcin, procollagen type I N-terminal propeptide, and cross-linked carboxyterminal telopeptide of type I collagen, reflecting an increased bone turnover. Bone marker levels returned to their normal values during treatment. Zoledronic acid treatment may be an important therapeutic option in patients with severe CED. Biochemical markers of bone turnover could be considered as surrogate indexes of CED activity.

Background Long-term placement of central venous catheters (CVCs) is common in children with malignancies. The optimization of antiseptic protocols, together with proper manipulation by well-trained nursing staff, has lowered the incidence of central line associated bloodstream infections (CLABSI). Furthermore, actual chemotherapeutic protocols aim to avoid extensive inpatient hospitalizations. However, self-management of CVCs is not simple: it requires adequate materials and an appropriate education of patients and caregivers. Therefore, the influence of social factors, such as language barriers, may be stronger than expected, especially in tertiary level institutions that act in multicultural settings. Methods We retrospectively analyzed patients who were admitted at our hematology-oncology service and who inserted any type of CVC between November 2012 and May 2018. Only patients with a complete and certified history of the CVC status from our experienced nurses were included. Cultural and linguistic barriers (CLB) were defined as patients and families who did not speak Italian as mother tongue together with presence of important social or cultural issues that impaired proper CVC management. Furthermore, patients were stratified according to the presence of CLB (CLB+ versus CLB-). The diagnosis of CLABSI was made according to Center for Disease Prevention and Control Criteria (Bloodstream Infection Event (Central Line-Associated Bloodstream Infection and non-central line-associated Bloodstream Infection). January 2018). A complete antibiogram was available in all cases of CLABSI. Density of infection, defined as number of events/ 1000 CVC days, was calculated as CLABSIs x 1000 / number of central line days. The following risk factors were considered for CLABSI: presence of CLB, total days of CVC placement, total days with CVC spent as an outpatient (outpatient days), ratio between outpatient and inpatient days (O/I days), number of outpatient accesses, type of CVC, neutropenia, underlying disease, hematopoietic stem cell transplantation (HSCT) and type of HSCT. Chi-squared test was used to assess differences for categorical variables and Yates' correction was considered when appropriate. Pearson and Spearman rank correlation tests were applied. Results and Discussion Thirty-seven patients and 45 CVC were included in this study. We observed 8 cases of CLABSI out of 10209 days of catheterization thus the density of infection was 0.78/1000 catheters days. Four patients had CLB and 3 of them developed CLABSI, accounting for 5 out of 8 CLABSI. A significant correlation was observed between the presence of CLB and CLABSI (chi-squared 7.07, p<0.01). Moreover, no difference was observed in O/I days among groups (CLB+ O/I days: 0.75, CLB- O/I days: 0.74, p>0.05). Neither the total days of CVC placement nor the total number of days spent with a CVC as an outpatient were correlated with a higher incidence of CLABSI (Pearson correlation respectively 0.03 and 0.04, p>0.05). Therefore, the outpatient management of CVC alone did not seem to be a risk factor for CLABSI. Noticeable, 75% of patients who developed a CLABSI had a tunneled CVC implanted but a significant correlation between CVC type and CLABSI was not found. Tunneled CVCs were used in nearly 47% of our population; this could partially explain the higher incidence of infections in patients with this type of CVC. According to literature, the highest incidence was observed among neutropenic patients and who was affected by acute lymphoblastic leukemia, although the difference was not statistically relevant. No others significant correlations were observed. Conclusion Even though the number of patients is relative small and differences in the underlying disease may be a confounding element, we found a significant correlation between cultural and linguistic barriers and incidence of CLABSI. Current treatment protocols for many childhood cancers have significantly reduced morbidity and mortality in this group of patients. Thus, it has become particularly important to minimize the risks of complications, included CLABSI, related to therapy. Reducing cultural and language barriers by implementing cultural mediation seems to be a promising way to pursue this objective. At the same time, we trust the importance of CLB is worth deepening with further studies involving a greater number of patients. Disclosures No relevant conflicts of interest to declare.

The paper describes the case of an 11-year-old girl presenting with normocytic hyporegenerative anaemia associated with increase of transaminases, CK and LDH. On physical exam skin pallor, mask-like facies and dry skin were observed; weight and height were below the third percentile for age and sex. Abdomen ultrasound (US) was significant for faecal impaction, but excluded an abdominal neoplasia. Lab tests showed persistency of normocytic anaemia while B12 and folate dosage, haemoglobin electrophoresis and DEB test were normal. However, a screening of thyroid function showed an abnormally high TSH and undetectable fT4 and fT3. Dosing of specific antibodies and thyroid US led to diagnosis of Hashimoto thyroiditis. Normocytic anaemia among paediatric patients cannot only be related to medullary aplasia, but also to chronic diseases and endocrinological disorders that should be adequately investigated. If the diagnosis still remains elusive, the execution of a bone marrow is mandatory.