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.

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.

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.

Urinary insulin-like-growth factor I in normal children: relationship to age, pubertal status and urinary growth hormone.

Authentic insulin-like growth factor 1 (IGF-I) can be detected in human urine at one thousandth of the serum level, with which it correlates closely. The aim of this study was to establish the normal range of urinary IGF-I (uIGF-I) in relation to age, sex, and pubertal status, and to define the relationship between uIGF-I and urinary growth hormone (uGH). IGF-I was measured by RIA after acid extraction of IGF-I binding protein, and separation by gel chromatography in 302 healthy children (149 boys and 153 girls) in whom uGH had already been measured. The mean amount of uIGF-I excreted each night ranged from 17.5 ng (males) and 14.9 ng (females) at pubertal stage I (PS 1), to a peak of 66.8 ng (males) at PS 4, and 55.8 ng (females) at PS 3, coinciding with peak uGH excretion. Highly significant correlations were found between uGH and uIGF-I both before and during puberty (P < 0.01). These findings extend the range of non-invasive investigation available in growth disorders and physiological studies.

Papillary thyroid carcinoma after total body irradiation.

Two children developed papillary thyroid carcinoma after allogeneic bone marrow transplantation (BMT) probably due to radiotherapy during remission and pretransplantation conditioning. Establishing a relationship between the cellular thyroid stimulating hormone (TSH) effect and development of carcinoma in cases with high serum TSH concentrations is difficult. After BMT, patients should be regularly followed up with thyroid ultrasound and, when nodularity is found, fine needle aspiration and/or open biopsy are recommended.

Head circumference and IQ of children with sex chromosome abnormalities.

At all ages XXX girls had significantly smaller head circumferences than control girls. Their IQ deficit was 24 points and IQ at age seven correlated significantly with head circumference at birth. In XXY boys, head circumference was significantly reduced at birth and up to nine years of age. The XXY boys' IQ deficit was 22 points, but IQ did not correlate with head circumference, as reductions in the two parameters did not always occur in tandem. The ratio of height-to-head circumference differed most in this group and could be useful in clinical recognition of this condition. XYY boys' head size did not differ from controls, despite their greater height, lower IQ scores indicating an adverse effect of an additional Y chromosome on brain development. The major factor affecting IQ outcome in the cohort was abnormal karyotype, with smaller effects from social class and head growth.

Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum.

The clinical and endocrinological findings in 24 children with septo-optic dysplasia and/or agenesis of the corpus callosum are described with particular reference to posterior pituitary function. Nine had diabetes insipidus. The prevalence of diabetes insipidus was similar in children with complete and incomplete forms of septo-optic dysplasia. Maintenance of normal osmotic balance was very difficult in six of these children, even after the introduction of treatment with vasopressin, either as desmopressin, or lysine vasopressin spray in one of the early cases.

Delayed recovery of lymphocyte beta-adrenoceptors in thyroidectomized aging patients.

We previously found that the beta-adrenoceptor (beta AR) density of lymphocytes from thyroidectomized adult women shows a significant decrease early after surgery, followed by a slower recovery kinetics. In the present article, we posed the question whether the kinetics of lymphocyte beta ARs from thyroidectomized patients could be dependent upon the age of the donors. Thus, postsurgical decrease and the following recovery of beta AR density were studied in thyroidectomized female patients of different ages, along with the time course of triiodothyronine (T3) and thyroxine (T4) levels. The kinetics were analyzed using a mathematical model fitting experimental data. Results show that parallel statistically significant falls in beta AR density and T3 levels are present in every age group tested from 1 to 3 days following surgical intervention. No statistically significant changes have been observed in T4 levels. The recovery of beta AR density shows progressively slower kinetics with increasing patient age. In particular, a parameter estimating the time required to regain 50% of the fall in beta AR density increases exponentially with advancing age. T3 levels show a recovery trend quite similar to that of beta AR density, but the kinetics is slower and does not present any statistically significant age-related changes. The kinetics of T4 levels are completely different, showing a continuous slowly decreasing trend. Thus, the beta AR fall can be accounted for only by a decrease in T3 levels. On the contrary, the comparison of T3 and beta AR kinetics suggests that receptor recovery is also mediated by other regulatory factors. T4 levels do not appear to have any direct role in both fall and recovery of beta ARs.

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.

Decreased beta-adrenergic receptor density in mononuclear leukocytes from thyroidectomized patients.

Beta-adrenergic receptor characteristics were investigated in peripheral blood mononuclear leukocytes taken from patients before and after partial thyroidectomy. In order to discriminate the effect of surgical stress per se from that of thyroidectomy, the analysis was also performed on patients before and after cholecystectomy. Receptor characteristics were determined by using dihydroalprenolol as ligand in direct equilibrium binding experiments. The binding affinity showed no changes either when two different surgical treatments were compared or when the same patient was analysed before and after the operation. On the contrary, a significant decrease in receptor density was found in thyroidectomized patients when compared pre- and post-operatively. This fall in receptor number seems to be linked with thyroid function since no statistically significant changes were observed in cholecystectomized patients in relation to surgical operation. This view is further supported by data on T3 serum levels, which show a significant fall after thyroidectomy but no statistically significant modifications after cholecystectomy. It is concluded that beta-adrenoceptor modulation plays an important role in the relationship between thyroid and beta-adrenergic system.

[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.