Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke system.

Acute chest syndrome (ACS) is a frequent cause of hospitalization in sickle cell disease (SCD). Despite advances in acute care, many settings still lack knowledge about ACS best practices. After the AIEOP Guidelines were published in 2012, suggesting standardized management in Italy, a retrospective study was performed to assess the diagnostic and therapeutic pathways of ACS in children. From 2013 to 2018, 208 ACS episodes were presented by 122/583 kids in 11 centres. 73 were male, mean age 10.9 years, 85% African, 92% HbSS or Sß°. In our hub-and-spoke system, a good adherence to Guidelines was documented, but discrepancies between reference centres and general hospitals were noted. Improvement is needed for timely transfer to reference centres, use of incentive spirometry, oxygen therapy and pain management.

Hormonal replacement therapy in adolescents and young women with chemo- or radio-induced premature ovarian insufficiency: Practical recommendations.

In women with premature ovarian insufficiency (POI), hormonal therapy (HT) is indicated to decrease the risk of morbidity and to treat symptoms related to prolonged hypoestrogenism. While general recommendations for the management of HT in adults with POI have been published, no systematic suggestions focused on girls, adolescents and young women with POI following gonadotoxic treatments (chemotherapy, radiotherapy, stem cell transplantation) administered for pediatric cancer are available. In order to highlight the challenging issues specifically involving this cohort of patients and to provide clinicians with the proposal of practical therapeutic protocol, we revised the available literature in the light of the shared experience of a multidisciplinary team of pediatric oncologists, gynecologists and endocrinologists. We hereby present the proposals of a practical scheme to induce puberty in prepubertal girls and a decisional algorithm that should guide the clinician in approaching HT in post-pubertal adolescents and young women with iatrogenic POI.

A life-threatening paediatric case of acute autoimmune haemolytic anaemia (AIHA) successfully cured by plasma-exchange and combined immunosuppressive treatment.

A 3-year-old boy present with a severe autoimmune haemolytic anaemia, triggered by IgG-class auto-antibodies, with hemoglobin levels decreased to 2, 1 gr/dL. A combined immunosuppressive regimen was begun together with multiple plasma-exchanges and transfusions which sustained the cardio-vascular balance until the specific therapy became effective.

The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series.

BACKGROUND: The treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated. The short- and long-term effects of recombinant human growth hormone in this selected cohort is still debated, given the natural progression of disease-related skeletal malformations and the paucity of treated patients reported in literature. The presented case series provides detailed information about the response to recombinant growth hormone in MPS patients diagnosed with growth hormone deficiency. CASES PRESENTATION: The growth patterns of 4 MPS female patients (current age: 11.7-14.3 years) treated with recombinant human growth hormone due to growth hormone deficiency have been retrospectively analyzed. Two patients, diagnosed with MPS IH, had undergone haematopoietic stem cell transplantation at an early age; the remaining two patients were affected by MPS IV and VI and were treated with enzyme replacement therapy. 4/4 patients presented with a progressive growth deceleration before the diagnosis of growth hormone deficiency was confirmed. This trend was initially reverted by a remarkable increase in height velocity after the start of recombinant growth hormone. We recorded an average increase in height velocity z-score of + 4.23 ± 2.9 and + 4.55 ± 0.96 respectively after 6 and 12 months of treatment. After the first 12-24 months, growth showed a deceleration in all the patients. While in a girl with MPS IH recombinant human growth hormone was discontinued due to a lack in clinical efficacy, 3/4 patients grew at a stable pace, tracking the height centile achieved after the cited initial increase in height velocity. Furthermore, mineral bone density assessed via bone densitometry, showed a remarkable increase in the two patients who were tested before and after starting treatment. CONCLUSIONS: Recombinant human growth hormone appears to have effectively reverted the growth deceleration experienced by MPS patients diagnosed with growth hormone deficiency, at least during the first 12-24 months of treatment.

Role of triiodothyronine in down-regulation and recovery of lymphocyte beta-adrenoceptors in thyroidectomized patients.

Thyroid function modulates beta-adrenergic sensitivity through the regulation of beta-adrenoceptor density. In particular, thyroidectomy decreases and thyroid hormone injections increase beta-adrenoceptor density on human lymphocytes. In the present paper the relationship between receptor modifications and thyroid hormone levels has been studied in human lymphocytes from patients after thyroidectomy. The patterns of early changes as well as recovery trends have been investigated. Results show a statistically significant fall in receptor density, parallelled by a decrease in T3 levels, 1-3 days after thyroidectomy. Recovery of receptor density is observed 5-8 days after surgical intervention and is accompanied by increased T3 levels. There is a positive correlation between receptor density and T3 levels. On the contrary, no statistically significant correlation was observed for receptor density and T4 levels. The time course of disappearance and recovery of receptor density and that of T3 levels have also been analyzed with the aid of a mathematical model fitting experimental data. On this basis, the hypothesis that both down-regulation and subsequent recovery of beta-adrenoceptor density are driven by the fall and rise of T3 is suggested. Data are also discussed in relation to experimental results we have obtained in animal studies.

A device to perform percutaneous cervical pharyngostomy (PCP) for enteral nutrition.

Percutaneous Cervical Pharyngostomy (PCP) is a technique of proven usefulness in Enteral Nutrition and has been used for over 20 years. The procedure has been modified to make it less traumatic and easier to perform. To further improve the technique we have developed a special device, with which it can be performed with minimum trauma under local anaesthesia, and with a smaller number of manoeuvres when compared with previous techniques. In addition, it gives rise to less occupation of the pharyngostomic passage by the nutritional tube (8 Fr.). We have successfully utilised this device on 37 patients, in whom the procedure took no more than 15 minutes. We had no technical complications. Based on our experience, we think that the use of this device makes the application of PCP easier in Enteral Nutrition.

[Selective angiography and transcervical exeresis in mediastinal parthyroid adenoma with anomalous drainage]. / Angiografia selettiva e exeresi transcervicale di adenoma paratiroideo mediastinico a drenaggio anomalo

A personal case of hyperparathyroidism due to parathyroid adenoma is reported: selective angiography enabled the neoplasia to be precisely localized in an unusual site and made it possible to identify its abnormal venous drainage. Transcervical surgery was used to remove the adenoma and the patient cured with no relapse up to the present. In the light of this expecience and a review of the recent literature on diagnostic techniques, emphasis is laid on the effectiveness of angiography in the localization of parathyroid adenoma, a localization which should always be sought preoperatively to avoid the risk of pointless surgical exploration.

[Kyphotic paraplegia treated by antero-lateral transthoracic decompression and double autograft]. / Paraplégie cyphotique traitée par décompression antéro-latérale transthoracique et double autogreffe

The authors describe a case of malformative kyphosis with paraplegia, treated by transthoracic antero-lateral decompression and anterior spinal fusion by posterior spinal fusion six weeks later. The result of the surgical treatment has been excellent with complete functional recovery. The spinal fusion seems to be the main element of the treatment, by contrast it is impossible to assess the role played by the antero-lateral decompression.