Frequency of thyroid nodules in patients with ß-thalassemias in Southern Iran.

BACKGROUND: Although thyroid nodules are a common finding in the general population, determining the clinically important nodules is essential. We investigated thyroid nodules or cysts by thyroid ultrasonography (US) in patients with ß-thalassemia major (ß-TM) and intermedia (ß-TI). We also report a ß-TI patient who was diagnosed with thyroid cancer six months before our screening. METHODS: In this cross-sectional study, 178 patients with ß-thalassemias referred to the Thalassemia Clinic in a tertiary hospital affiliated to Shiraz University of Medical Sciences were investigated, from January to June 2016, by US. RESULTS: Thyroid nodules or cysts were detected in 11 patients [total: 6.17 %; 8 patients with ß-TM (8.2%) and 3 patients with ß-TI (3.7%)]. All nodules were < 1 cm in diameter and were not suspicious of malignancy. All patients, after 1 year of thyroid US follow-up, did not show any significant change in favor of malignancy. CONCLUSION: Based on our results, the frequency of thyroid nodules was similar to what was reported in the general population. However, a long-term follow-up of these patients is recommended because of the potential carcinogenic effects of iron and hepatitis C infection (HCV). To achieve more precise information, collaborative multicenter studies should be considered.

POSTNATAL GROWTH IN PRETERMS WITH BRONCHOPULMONARY DYSPLASIA.

Aim of study - to measure growth data for 69 preterms (39 females) with bronchopulmonary dysplasia (PT-BPD) The growth parameters of 69 BPD-PT were recorded for 16±3 months postnatally. 40 had mild, 20 had moderate and 9 had severe BPD. Ninety-six percent of infants were appropriate for gestational age (AGA). Only 4% preterms had birth weight SDS <-2 for gestational age (GA) and 4% had length SDS (LSDS) <-2. Eighty-eight percent of PT-BPD had normal or accelerated growth velocity (GV) during the 16±3 months period. At 8±2 months of uncorrected age 45% had LSDS <-2 and at 16±3 months of age 25% had LSDS <-2. At 8±2 months 13% had body mass index SDS (BMISDS) < -2 and at 16±3 months 5.8% had BMISDS < -2. At 8±2 months 52% had head circumference SDS (HCSDS2) <-2. At 16±3 months 27.5% had HCSDS <-2. Seventy-two per cent of PT-BPD had normal HCSDS compared to full terms (FT) infants at 16±3 months. The majority of preterm infants with BPD show normal or above normal (catch-up growth) linear growth velocity postnatally compared to FT infants. At 16±3 months of their life 75% had normal LSDS, 72.5% had normal HCSDS compared to FT infants. Severity of the BPD, and the presence of sepsis, NEC, PDA and PVH ominously affects postnatal somatic growth in these infants. Our results stress also the importance of corrected vs uncorrected age for the growth evaluation.

PITUITARY DEFICIENCY FOLLOWING TRAUMATIC BRAIN INJURY IN EARLY CHILDHOOD: A REVIEW OF THE LITERATURE.

UNLABELLED: AIMS OF REVIEW: the intent of the current manuscript is to critically review the studies on pituitary gland dysfunction in early childhood following traumatic brain injury (TBI), in comparison with those in adults. Search of the literature: The MEDLINE database was accessed through PubMed in April 2015. Results were restricted to the past 15 years and English language of articles. Both transient and permanent hypopituitarisms are not uncommon after TBI. Early after the TBI, pituitary dysfunction/s differ than those occurring after few weeks and months. Growth hormone deficiency (GHD) and alterations in puberty are the most common. After the one to more years of TBI, pituitary dysfunction tends to improve in some patients but may deteriorate in others. GH deficiency as well as Hypogonadism and thyroid dysfunction are the most common permanent lesions. Many of the symptoms of these endocrine defects can pass unnoticed because of the psychomotor defects associated with the TBI like depression and apathy. Unfortunately pituitary dysfunction appear to negatively affect psycho-neuro-motor recovery as well as growth and pubertal development of children and adolescents after TBI. Therefore, the current review highlights the importance of closely following patients, especially children and adolescents for growth and other symptoms and signs suggestive of endocrine dysfunction. In addition, all should be screened serially for possible endocrine disturbances early after the TBI as well as few months to a year after the injury. Risk factors for pituitary dysfunction after TBI include relatively serious TBI (Glasgow Coma Scale score < 10 and MRI showing damage to the hypothalamic pituitary area), diffuse brain swelling and the occurrence of hypotensive and/or hypoxic episodes. IN CONCLUSION: There is a considerable risk of developing pituitary dysfunction after TBI in children and adolescents. These patients should be clinically followed and screened for these abnormalities according to an agreed protocol of investigations. Further multicenter and multidisciplinary prospective studies are required to explore in details the occurrence of permanent pituitary dysfunction after TBI in larger numbers of children with TBI. This requires considerable organisation and communication between many disciplines such as neurosurgery, neurology, endocrinology, rehabilitation and developmental paediatrics.

Rhythm-symptom correlation in patients on continuous monitoring after catheter ablation of atrial fibrillation.

INTRODUCTION: Correlation between symptoms and atrial fibrillation (AF) episodes after catheter ablation may have clinical relevance, especially for anticoagulation usage. The aim of our project was to analyze the relationship between symptoms and AF recurrences in unselected patients following AF catheter ablation during long-term follow-up. METHODS AND RESULTS: One hundred and forty-three consecutive patients (mean age 59 ± 9 years, 85% male) were implanted with a continuous cardiac monitor (RevealXT, Medtronic Inc., Minneapolis, MN, USA) following first pulmonary vein ablation procedure. Device data were downloaded every 3 months and correlated to patients' symptom diary. AF was paroxysmal in 55% and persistent in 45%. At a mean follow-up of 14 ± 6 months, 98/143 (69%) patients had at least one AF recurrence. Among these, 53 (54%) reported AF-related symptoms while 45 (46%) were totally asymptomatic. Conversely, 13 (29%) out of 45 patients without AF recurrences reported symptoms. Globally, a significant reduction of symptoms (from 82% at baseline to 44% at last follow-up; P < 0.0001) was observed. SF-12 questionnaire showed a significant improvement of physical and mental functioning (respectively 44.5 ± 8.5 vs 51.0 ± 6.7, and 45.7 ± 9.3 vs 49.2 ± 6.1, P < 0.05 baseline vs last follow-up). At the 12-month follow-up, 80% and 77% of patients were on AAD and anticoagulant drugs, respectively. There were not differences in AAD usage in symptomatic and asymptomatic patients. CONCLUSIONS: Continuous ECG monitoring is a valuable tool for long-term follow-up after AF catheter ablation facilitating reliable assessment of symptomatic and asymptomatic AF episodes. This may have clinical implications with regards to anticoagulation therapy in high-risk patients.

Adenoid cystic carcinoma of Bartholin's gland receiving adjuvant radiation therapy: case report.

Adenoid cystic carcinoma (ACC) of Bartholin's gland is an extremely rare tumor of the female genital tract, representing about 5%-15% of Bartholin's gland malignancies. Approximately 80 cases have been reported in the literature. The authors describe the case of a 54-year-old woman with locally advanced ACC of Bartholin's gland treated with surgery and adjuvant radiotherapy (RT). She underwent radical hemivulvectomy associated with ipsilateral inguinal and femoral lymph node dissection. Subsequently, she received postoperative three-dimensional conformal RT. Total dose prescribed was 56 Gy in 28 fractions of two Gy each. After 20 months of follow up, there was no evidence of local failure or distant progression.

External-beam radiotherapy and/or HDR brachytherapy in postoperative endometrial cancer patients: clinical outcomes and toxicity rates.

PURPOSE: The objectives of this study were to evaluate local disease control, overall survival (OS), disease-free survival (DFS) and local relapse-free survival (LRFS) in patients with endometrial cancer undergoing adjuvant vaginal brachytherapy (VBT )± external-beam radiotherapy (EBRT). MATERIALS AND METHODS: From September 2007 to February 2011, 40 patients with endometrial cancer were retrospectively analysed. Surgery consisted of total hysterectomy and bilateral salpingo-oophorectomy without node dissection (16 patients) or with bilateral pelvic node dissection (24 patients). The stage distribution was as follows: two IA, nine IB, 12 IC, five IIA, eight IIB, two IIIA and two IIIC. Thirty-four patients underwent EBRT and VBT. Six patients received VBT alone. RESULTS: Median follow-up was 26 months. The 5-year OS and DFS were 96.4% and 86.9%, respectively. No local recurrence was observed. Four patients presented distant disease (three had lung metastases and one had hepatic node metastases). Acute EBRT-related toxicities were seen in 15 (38%) patients. We recorded late toxicities in 14 patients (35%). There was no evidence of grade 3-4 toxicity. CONCLUSIONS: Adjuvant EBRT and/or VBT in patients with endometrial cancer showed good outcomes in terms of local disease control, with an acceptable toxicity profile.

Acanthosis nigricans in adolescents: a practical approach.

Acanthosis nigricans (AN) is a lesion affecting localized areas of the skin in persons with obesity and/or hyperinsulinemia. Biochemical mechanisms responsible for developing this hyperplastic lesion are unclear, but likely involve local cutaneous growth factors. It is associated with obesity, endocrinopathies (insulin resistance, diabetes mellitus, Cushing disease and acromegaly) and visceral malignancies. Clinicians should recognize AN because it may herald disorders ranging from endocrine disturbances to malignancy. Early recognition of these conditions is essential to identify children who are at highest risk for developing type 2 diabetes and further metabolic abnormalities.

High prevalence of central hypothyroidism in adult patients with ß-thalassemia major.

The commonest form of thyroid dysfunction seen in subjects with TM is primary hypothyroidism due to abnormalities of the thyroid gland. Central hypothyroidism (CH) has been reported as an uncommon clinical entity in TM patients although the anterior pituitary gland is particularly sensitive to free radical oxidative stresses. Diagnosis is usually made on a biochemical basis showing low circulating concentrations of thyroid hormone associated with an inappropriately low TSH levels. The diagnosis is not clinically obvious and a basal normal TSH level does not exclude the diagnosis of CH. Therefore, it is important that clinicians accurately interpret thyroid function tests. In TM patients, CH prevalence differs at different ages is unknown and it is not easy to diagnose because most of the symptoms of symptoms of CH are non specific and are frequently attributed to anaemia or other associated complications . We performed a cross-sectional analysis on a large database using the clinical records of our TM patients to explore the prevalence of CH in prepubertal (<11 years: 25 patients; 13 males) peripubertal (between 11 and 16 years: 9 patients; 3 males), and pubertal TM subjects (>16 years: 305 patients; 164 males). Central hypothyroidism was present in 26 (7,6%) TM patients. Their mean age was 29.9 ± 8.4 years, 14 (53.8%) were males and 12 (46.1%) were females. The prevalence of CH was 6% in patients with a chronological age below 21 years and 7.9% in those above 21 years. Clinicians should be alert for the diagnosis of CH through accurate interpretation of thyroid function tests. We recommend L-thyroxine therapy if the level of FT4 is consistently low provided that the patient has normal cortisol levels.

Growth hormone deficiency in adults with thalassemia: an overview and the I-CET recommendations.

This review paper provides a summary of the current state of knowledge regarding GHD provides recommendations for the diagnosis and treatment of GHD in adult patients with thalassaemia major (TM). The reported prevalence of adult GHD and /or IGF-I deficiency in TM patients varies from 8% to 44 % in different centers. Because GH treatment requires analysis of many factors, including the effect of treatment on cardiac functions, metabolic parameters and psychosocial functioning, along with safety, ethical considerations, financial cost and other burdens of therapy, stringent diagnostic criteria are needed. The authors report the diagnostic recommendations of the International Study Group of Endocrine Complications in Thalassemia (I-CET) for adult TM patients.The pros and cons of GH treatment must be discussed with each patient, after which GH doses should be individualized and titrated to maximum efficacy with minimal side effects. Prospective studies to monitor potential benefits versus possible side-effects will enable endocrinologists to define recommendations on dosage and the long term effects, particularly on cardiovascular and bone status of GH therapy in adult TM patients.

Contouring of emerging organs-at-risk (OARS) of the female pelvis and interobserver variability: A study by the Italian association of radiotherapy and clinical oncology (AIRO).

Purpose: To provide straightforward instructions for daily practice in delineating emerging organs-at-risk (OARs) of the female pelvis and to discuss the interobserver variability in a two-step multicenter study. Methods and materials: A contouring atlas with anatomical boundaries for each emerging OAR was realized by radiation oncologists and radiologists who are experts in pelvic imaging, as per their knowledge and clinical practice. These contours were identified as quality benchmarks for the analysis subsequently carried out. Radiation oncologists not involved in setting the custom-built contouring atlas and interested in the treatment of gynecological cancer were invited to participate in this 2-step trial. In the first step all participants were supplied with a selected clinical case of locally advanced cervical cancer and had to identify emerging OARs (Levator ani muscle; Puborectalis muscle; Internal anal sphincter; External anal sphincter; Bladder base and trigone; Bladder neck; Iliac Bone Marrow; Lower Pelvis Bone Marrow; Lumbosacral Bone Marrow) based on their own personal knowledge of pelvic anatomy and experience. The suggested OARs and the contouring process were then presented at a subsequent webinar meeting with a contouring laboratory. Finally, in the second step, after the webinar meeting, each participant who had joined the study but was not involved in setting the benchmark received the custom-built contouring atlas with anatomical boundaries and was requested to delineate again the OARs using the tool provided. The Dice Similarity Coefficient (DSC) and the Jaccard Similarity Coefficient (JSC) were used to evaluate the spatial overlap accuracy of the different volume delineations and compared with the benchmark; the Hausdorff distance (HD) and the mean distance to agreement (MDA) to explore the distance between contours. All the results were reported as sample mean and standard deviation (SD). Results: Fifteen radiation oncologists from different Institutions joined the study. The participants had a high agreement degree for pelvic bones sub-structures delineation according to DICE (IBM: 0.9 ± 0.02; LPBM: 0.91 ± 0.01). A moderate degree according to DICE was showed for ovaries (Right: 0.61 ± 0.16, Left: 0.72 ± 0.05), vagina (0.575 ± 0.13), bladder sub-structures (0.515 ± 0.08) and EAS (0.605 ± 0.05), whereas a low degree for the other sub-structures of the anal-rectal sphincter complex (LAM: 0.345 ± 0.07, PRM: 0.41 ± 0.10, and IAS: 0.4 ± 0.07). Conclusion: This study found a moderate to low level of agreement in the delineation of the female pelvis emerging OARs, with a high degree of variability among observers. The development of delineation tools should be encouraged to improve the routine contouring of these OARs and increase the quality and consistency of radiotherapy planning.

Acute toxicity in 14 patients with locally advanced head and neck squamous cell carcinoma treated with concurrent cetuximab and radiotherapy.

PURPOSE: The authors report acute toxicity in 14 patients with locally advanced head and neck squamous cell carcinoma treated with radiotherapy and cetuximab. MATERIALS AND METHODS: Data collection was performed prospectively on patients treated from September 2007 to March 2009. Treatment consisted of 64.8-70 Gy radiotherapy in conventional fractions and cetuximab. RESULTS: Two out of 14 patients did not complete the planned combined treatment; radiotherapy was temporarily suspended in six other patients. Seven of 12 patients received cetuximab until the end of radiotherapy. Treatment breaks were principally due to severe acute cutaneous or mucous toxicity. Any grade acneiform rash occurred in all patients. In-field G3-4 cutaneous toxicity occurred in five (36%) patients and G3-4 mucous toxicity in seven (50%). One patient died of sepsis. CONCLUSIONS: In our experience, severe acute toxic reactions are common in patients treated with radiotherapy and concurrent cetuximab, resulting in frequent breaks or incomplete treatment with potential reduction in disease control.

A rare case of orgasmic disorder: psychogenic anejaculation in an adolescent.

A sixteen year-old Caucasian male presented with inability to ejaculate after 40-45 minutes of masturbation. Physical and neurologic examinations were normal. Genital and rectal examination and transrectal ultrasound showed normal testicles, penis, prostate and seminal vescicles. Gonadotropins, testosterone and prolactin levels were normal. Vibratory stimulation was unsuccessful to obtain semen. The absence of retrograde ejaculation was confirmed by urine examination after vibratory stimulation and masturbation. Pshychosocial evaluation was consistent with feeling of severe anxiety related to inability to ejaculate. A diagnosis of psychogenic of anejaculation was given and consequently he was counselled to reduce anxiety. During the follow-up gradual improvement of sexual function and spontaneous normal ejaculations were achieved.

Papillary thyroid microcarcinoma in thalassaemia: an emerging concern for physicians?

The occurrence of malignancies in thalassaemic patients is an emerging concern for physicians. In the last five years, in a single Thalassaemia Unit following 195 thalassaemic patients, eleven cases of carcinoma were diagnosed: 4 cases of liver, 1 of lung, 1 of adrenal gland and 5 cases of papillary thyroid carcinoma (patient mean age 42.6 years).Therefore, we decided to perform a thyroid ultrasonography (US) in addition to the periodic (6-12 months) assessment of FT4 and TSH in all adult patients with thalassaemia followed at the Thalassaemia Unit of Siracusa and at the Outpatient Clinic of Quisisana Hospital of Ferrara. Thyroid nodules were found in 8.6% of 58 examined thalassaemia major or intermedia patients. To exclude thyroid malignancy, fine needle biopsy (FNAC) under US guidance was performed. A diagnosis of incidental papillary thyroid microcarcinoma (PTMC) was made in 3 female patients with iron overload. According to the World Health Organization, PTMC is defined as papillary thyroid carcinoma measuring < or = 10 mm in the greatest dimension. Two patients were HCV positive. All underwent a total or subtotal thyroidectomy with histological confirmation of the FNAC cytology diagnosis. In conclusion, it seems that patients with thalassaemia have a substantial risk for malignancies. Further studies are needed in these patients to clarify the possible link between cellular iron content, hepatitis C virus infection and cancer development. A thyroid ultrasonography is recommended for all adult thalassaemic patients in addition to the annual FT4 and TSH assessment.

Continuous glucose monitoring, oral glucose tolerance, and insulin - glucose parameters in adolescents with simple obesity.

In obese adolescents pancreatic beta-cells may not be able to cope with insulin resistance leading to hyperglycemia and type2 diabetes (T2DM To assess oral glucose tolerance, 72-h continuous blood glucose concentrations (CGM) and calculate homeostatic model assessment (HOMA), and the quantitative insulin sensitivity check index (QUICKI) in 13 adolescents with simple obesity (BMI SDS=4 ± 1.06). OGTT performed in 13 obese adolescents (13.47 ± 3 years) revealed 3 cases (23%) with impaired fasting glucose (IFG: fasting glucose >5.6 mmol/L), 4 cases (30%) with impaired glucose tolerance (IGT: 2h blood glucose >7.8 <11.1 mmol/L), and none with diabetes. Using the continuous glucose monitoring system ( CGMS), IFG was detected in 4 cases, the maximum serum blood glucose (BG : 2h or more after meal) was >7.8 and <11.1 mmol/L (IGT) in 9 children (69%) and >11.1 mmol/L (diabetes) in one case (7.6%). Five cases had a minimum BG recorded of <2.7 mmol/L (hypoglycemia). No glycemic abnormality was detected using HbA1C (5.7 ± 0.3%). 11/13 patients had HOMA values >2.6 and QUICKI values <0.35 denoting insulin resistance. Beta cell mass percent (B %) = 200 ± 94.8% and insulin sensitivity values (IS)=50.4 ± 45.5% denoted insulin resistance with hyper-insulinaemia and preserved beta cell mass. In obese adolescents, CGMS is superior to OGTT and HbA1C in detecting glycemic abnormalities, which appears to be secondary to insulin resistance.

Clinical, biochemical and radiological manifestations of severe vitamin d deficiency in adolescents versus children: response to therapy.

OBJECTIVES: to compare clinical, biochemical and radiological manifestations of severe vitamin D deficiency (VDD - serum 25 OH - vitamin D level <10 ng/ml) in adolescents and children and to investigate the effects of an intramuscular injection (IM) of vitamin D3 megadose. DESIGN: in this prospective study 36 adolescents and 45 children with severe VDD were studied. An IM dose (10,000 IU/kg, max 600,000 IU) of cholecalciferol was injected and parameters of calcium homeostasis were measured at intervals of 3 months. RESULTS: at presentation, infants and young children (age 1.9 ± 0.5 years) with severe VDD had enlarged wrist joints (42/45), cranial bossing (39/45), wide anterior fontanel (27/45), Harrison's sulcus (11/45) , chest rosaries (27/45), bow legs (29/45), delayed teething (40/45), delayed motor milestones (36/45), short stature (length/height SDS <-2)(12/45), craniotabes (4/45) and hypocalcemic tetany ( 11/45). The most frequent biochemical abnormality was high alkaline phosphatase (ALP) (45/45), followed by low phosphate (PO4) (36/45) and low calcium (Ca) (8/45). Adolescents with severe VDD presented with pain in weight bearing joints, back, thighs, knees, and calves (30/36) difficulty walking and/or climbing stairs and/or running (8/36), muscle cramps and/or facial twitches and/or carpopedal spasms (2/36) and genu valgum (2/36). Biochemical serum abnormalities included high ALP (31/36), low phosphate (10/36) and low Ca (4/36). Variable radiological manifestations due to VDD were detected in all children (45/45) and in some of adolescents (19/35). Two different radiological patterns have been recognized in adolescents. Three months after injecting a mega dose of cholecalciferol all biochemical abnormalities were corrected with significant improvement of symptoms related to VDD had been reported in all children (45/45) and in the majority (33/36) of adolescents with VDD. 3-6 months after the injection, complete healing of the radiological evidence of VDD was achieved in all rachitic children and the majority of adolescents (16/19). CONCLUSION: it appears that adolescents adapt better to severe VDD compared to infants, with less severe clinical, biochemical and radiological manifestations. An IM mega dose of cholecalciferol is effective therapy for treatment of VDD in children and adolescents for 3 months but not for 6 months.;

Adolescent health care in Italy: a mini-review.

The purpose of this mini-review is to present the National Health System and services available for adolescents in Italy, and to review the most relevant data on morbidity and mortality in Italian teens. Adolescent medicine in Italy is not a separate speciality, but there are some distinct services for adolescents in paediatric departments or gynaecologic wards, mostly in large cities where university hospitals or hospital of national relevance are located. Primary health care in Italy is provided mainly by general practitioners (GPs) and pediatricians, and on-call physicians (Guardia Medica) for after-hours medical care and services. The number of centres providing care for adolescents in Italy is 4097 (50% of these are in the North of Italy, 20% in the Central regions and 20% in the South and Islands). The population of Italy on January 1st 2011 was approximately 60,477,881 and the number of adolescents, aged 10 to 19 years, was 6,214,000. The most frequent causes of death in adolescents are motor vehicle accidents - more than half of which are related to drug or alcohol use - followed by cancer and suicide. In primary care, adolescents present with a large number of issues, particularly upper respiratory infections, musculoskeletal problems, pain syndromes, obesity, eating disorders, dermatological issues, mood and somatoform disorders, school and mental health problems, and chronic fatigue, many of which require a coordinated, multidisciplinary management approach. The estimated population with a chronic illness is 8%. There are no specific protocols for the transition to adult medicine physicians for patients with chronic diseases or special health needs. In order to improve the quality and quantity of education in adolescent health for paediatricians and GPs, the Study Group of Emilia and Romagna Region for Adolescent Health Care (SGA-ER) is going to organize, beginning in 2012, a two year educational intervention course in adolescent health.

The SGA-ER educational intervention in adolescent health care for Italian physicians: goals, content and instructional design.

Adolescent medicine is a field dedicated to helping young people grow and thrive, in relation to their particular stage of development. In Italy, adolescent medicine is not a distinct speciality, but it is practised in some services for adolescents in paediatric departments. Increasing educational opportunities in adolescent health may help to accelerate the development and dissemination of new and improved therapeutic approaches for serving youth and also attract a larger cadre of physicians. Other pediatric subspecialties, e.g. oncology, rheumatology and adolescent psychiatry, have developed successfully and may represent excellent models for adolescent medicine specialists to emulate. The Adolescent Health Study Group of the Emilia and Romagna Region (SGA-ER) was established in 2010 in an effort to generate strategies and possible solutions to improve the quality and quantity of knowledge in adolescent health care for pediatricians and GPs. Several methods and approaches have been implemented to improve physicians' skills in adolescent health care. The authors report the goals, content and instructional design of an educational course in adolescent medicine. Alliances with other adolescent health groups may provide an additional opportunity for networking, interaction and exchange of ideas amongst professionals.

ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.

Skeletal dysplasias (SKD) are genetic disorders that result in the abnormal development of part or all of the skeleton and are commonly associated with short stature. The most common SKDs that typically result in short stature include achondroplasia/hypochondroplasia (HCH) both caused by different mutations in the same gene. HCH diagnosis is based on the clinical appearance during development and conventional X-ray findings. In about 70% of patients, missense mutations in the gene coding for the fibroblast Growth Factor Receptor 3 (FGFR3) affects the amino acid at position 540, mostly resulting in the amino acid exchange N540K.Subjects with HCH, heterozygous for the N540K substitution are significantly more disproportionate than individuals without this mutation. We report the clinical and radiographic features of an Italian family with HCH with an unusual N540S mutation, inside the common mutation hot spot of this condition. This is the first case reported in Italy and the third in the literature. During a 7-years-follow-up, the boy started the puberty at the age of 11.3 years and the growth spurt was observed between 13.7 and 14.9 years (+ 9.1 cm.).During pubertal development the sitting height (SDS) improved from - 1.5 to - 0.6 and the subischial leg length (SDS) progressed from - 2.6 to - 3.3.At the age of 16.7 year the standing height was 157.6 cm ( - 2.4 SDS), testicular volume was 15 ml and bone age 16.5 year. The present study and the other two cases reported in the literature stress the important role of the asn 540 site in the tyrosine kinase I domain in the pathogenesis of HCH and underline the importance that, in patients with HCH who do not have the common N540K mutation, sequence analysis of the tyrosine kinase I domain of FGFR3 should be performed to exclude other changes in that region.

International network on endocrine complications in thalassaemia (I-CET): an opportunity to grow.

Most of the endocrine complications in thalassaemia are attributable to iron overload which may be the result of economic circumstances (expense of the chelation therapy), late onset of chelation therapy or poor compliance with the iron chelation therapy. The major difficulties reported by hematologists or pediatric endocrinologists experienced in thalassaemias or thalassaemia syndromes in following growth disorders and endocrine complications were: lack of familiarity with medical treatment of endocrine complications (40%), interpretation of endocrine tests (30%), costs (65%), absence of paediatric endocrinologist for consultation on growth disorders and endocrine complications (27%), facilities (27%), other (e.g. lack of collaboration and on-time consultation between thalassaemic Centers supervised by hematologists and endocrinologists) (17%). Because any progress we make in research into growth disorders and endocrine complications in thalassaemia should be passed on to all those suffering from it, guaranteeing them the same therapeutic benefits and the same quality of life, on the 8th of May, 2009 in Ferrara (Italy), the International Network on Endocrine Complications in Thalassemia (I-CET) was founded. The I-CET group is planning to conduct, in Ferrara in May 2012, a workshop, "MRI and Endocrine Complications in Thalassaemia", and in Doha (Qatar) in September 2012, a 3-day intensive course entitled, "Growth disorders and Endocrine Complications in Thalassaemia", to provide interested pediatricians, physicians and hematologists from all over the world with an in-depth approach to the diagnosis and management of growth and endocrine disorders in thalassaemic patients.

[Mucositis in oncohematology]. / Le mucositi in corso di trattamento delle emopatie neoplastiche.

Mucositis is the result of the cytotoxic effects of many treatments given for hematological malignancies (HMs); it represents a major source of potentially devastating clinical complications and portrays negative consequences on the patient's management, such as a longer hospitalization, the need of analgesic and total parenteral nutrition use, and increased costs. The available measures for the prevention and treatment of mucositis have been substantially palliative, being limited to the control of pain, infection, bleeding and nutrition. However, in the last decade, a better insight into the complex pathogenesis of MBI has led to the development of novel therapeutic options, such as palifermin, which can provide tools potentially allowing a targeted approach to mucositis.