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1.  Long-Term Follow-Up of a Child with Autoimmune Thyroiditis and Recurrent Hyperthyroidism in the Absence of TSH Receptor Antibodies 
Case Reports in Endocrinology  2014;2014:749576.
Hashitoxicosis is an initial, transient, hyperthyroid phase that rarely affects patients with Hashimoto thyroiditis. We present here an unusual case of a child with Hashimoto thyroiditis and recurrent hyperthyroidism. A 4 yr 6/12 old male was diagnosed by us with autoimmune subclinical hypothyroidism (normal free T4, slightly elevated TSH, and elevated TG antibody titer). Two years and 6/12 later he experienced increased appetite and poor weight gain; a laboratory evaluation revealed suppressed TSH, elevated free T4, and normal TSI titer. In addition, an I123 thyroid uptake was borderline-low. A month later, the free T4 had normalized. After remaining asymptomatic for 3 years, the patient presented again with increased appetite, and he was found with low TSH and high free T4. Within the following 3 months, his free T4 and TSH normalized. At his most recent evaluation, his TSH was normal and the free T4 was borderline-high; the TG antibody titer was still elevated and the TSI titer was negative. To our knowledge, this is the first patient reported with Hashimoto thyroiditis and recurrent hyperthyroidism. This case exemplifies the variability of the manifestations and natural history of Hashimoto thyroiditis and supports the need for a long-term evaluation of patients with autoimmune thyroid disease.
PMCID: PMC4119923  PMID: 25114812
2.  Activation of p107 by Fibroblast Growth Factor, Which Is Essential for Chondrocyte Cell Cycle Exit, Is Mediated by the Protein Phosphatase 2A/B55α Holoenzyme 
Molecular and Cellular Biology  2013;33(16):3330-3342.
The phosphorylation state of pocket proteins during the cell cycle is determined at least in part by an equilibrium between inducible cyclin-dependent kinases (CDKs) and serine/threonine protein phosphatase 2A (PP2A). Two trimeric holoenzymes consisting of the core PP2A catalytic/scaffold dimer and either the B55α or PR70 regulatory subunit have been implicated in the activation of p107/p130 and pRB, respectively. While the phosphorylation state of p107 is very sensitive to forced changes of B55α levels in human cell lines, regulation of p107 in response to physiological modulation of PP2A/B55α has not been elucidated. Here we show that fibroblast growth factor 1 (FGF1), which induces maturation and cell cycle exit in chondrocytes, triggers rapid accumulation of p107-PP2A/B55α complexes coinciding with p107 dephosphorylation. Reciprocal solution-based mass spectrometric analysis identified the PP2A/B55α complex as a major component in p107 complexes, which also contain E2F/DPs, DREAM subunits, and/or cyclin/CDK complexes. Of note, p107 is one of the preferred partners of B55α, which also associates with pRB in RCS cells. FGF1-induced dephosphorylation of p107 results in its rapid accumulation in the nucleus and formation of larger complexes containing p107 and enhances its interaction with E2F4 and other p107 partners. Consistent with a key role of B55α in the rapid activation of p107 in chondrocytes, limited ectopic expression of B55α results in marked dephosphorylation of p107 while B55α knockdown results in hyperphosphorylation. More importantly, knockdown of B55α dramatically delays FGF1-induced dephosphorylation of p107 and slows down cell cycle exit. Moreover, dephosphorylation of p107 in response to FGF1 treatment results in early recruitment of p107 to the MYC promoter, an FGF1/E2F-regulated gene. Our results suggest a model in which FGF1 mediates rapid dephosphorylation and activation of p107 independently of the CDK activities that maintain p130 and pRB hyperphosphorylation for several hours after p107 dephosphorylation in maturing chondrocytes.
PMCID: PMC3753905  PMID: 23775125
3.  Self-representation of children suffering from congenital heart disease and maternal competence 
Pediatric Reports  2013;5(1):e1.
Child development may be subject to forms of motor, physical, cognitive and self-representation impairments when complex congenital heart disease (CHD) occurs. In some cases, inadequacy of both self-representation as well as the family system are displayed. It seems to be important to search the likely internal and external resources of the CHD child, and the possible connections among such resources, which may help him/her to manage his/her own risk condition. The research project inquires the possible resources related to the self-representation and self-esteem levels of the CHD child, and those related to maternal self-perception as competent mothers. A group of 25 children (mean age = 10.2; SD=1.8) suffering from specific forms of CHD, and a group made up of their relative mothers (mean age = 38.2; SD=5) were studied. The tools used were the Human Figure Drawing, to investigate child body-related self-representation; the TMA scale (Self-esteem Multidimensional Test), to investigate the child's self-esteem; and the Q-sort questionnaire, to assess how mothers perceived their maternal competence. Data concerning the likely correlations between the child's self-representation and the maternal role competence show [that] positive correlations between some indicators of maternal competence, specific aspects of CHD children's self-representation (mothers' emotional coping and children's self-image adequacy) and self-esteem (mothers' emotional scaffolding and children's self-esteem at an emotional level). By detecting the occurrence of specific correlations among resources of both child and mother, the study provides cardiologists with information that is useful for building a relationship with the families concerned, which would seem to enhance the quality of the process of the cure itself.
PMCID: PMC3649740  PMID: 23667730
children's self-representation; children's self-esteem; mothers' perception of parental competence; developmental resources.
4.  Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients 
Acta Myologica  2012;31(2):121-125.
Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children. Historically, DMD results in loss of ambulation between ages 7 and 13 years and death in the teens or 20s. In order to determine whether survival has improved over the decades and whether the impact of nocturnal ventilation combined with a better management of cardiac involvement has been able to modify the pattern of survival, we reviewed the notes of 835 DMD patients followed at the Naples Centre of Cardiomyology and Medical Genetics from 1961 to 2006. Patients were divided, by decade of birth, into 3 groups: 1) DMD born between 1961 and 1970; 2) DMD born between 1971 and 1980; 3) DMD born between 1981 and 1990; each group was in turn subdivided into 15 two-year classes, from 14 to 40 years of age. Age and causes of death, type of cardiac treatment and use of a mechanical ventilator were carefully analyzed.
The percentage of survivors in the different decades was statistically compared by chi-square test and Kaplan-Meier survival curves analyses. A significant decade on decade improvement in survival rate was observed at both the age of 20, where it passed from 23.3% of patients in group 1 to 54% of patients in group 2 and to 59,8% in patients in group 3 (p < 0.001) and at the age of 25 where the survival rate passed from 13.5% of patients in group 1 to 31.6% of patients in group 2 and to 49.2% in patients in group 3 (p < 0.001).
The causes of death were both cardiac and respiratory, with a prevalence of the respiratory ones till 1980s. The overall mean age for cardiac deaths was 19.6 years (range 13.4-27.5), with an increasing age in the last 15 years. The overall mean age for respiratory deaths was 17.7 years (range 11.6-27.5) in patients without a ventilator support while increased to 27.9 years (range 23-38.6) in patients who could benefit of mechanical ventilation.
This report documents that DMD should be now considered an adulthood disease as well, and as a consequence more public health interventions are needed to support these patients and their families as they pass from childhood into adult age.
PMCID: PMC3476854  PMID: 23097603
Duchenne; survival; cardiomyopathy
5.  Long-term effects of a non-intensive weight program on body mass index and metabolic abnormalities of obese children and adolescents 
Previous studies have demonstrated positive effects of short-term, intensive weight-loss programs in obese children.
We evaluated the long-term effects of a non-intensive weight management program on the BMI, glycemic measures and lipid profiles of obese youth.
Retrospective chart review of 61 obese children followed at our Weight Management Center. During visits, dietary changes and regular physical activity were recommended. Anthropometric and laboratory parameters were evaluated.
At the initial visit, the mean age was 11.1 ± 2.6 years. The follow-up period was 47.3 ± 11.1 months; the number of outpatient visits per year (OV/yr) was 2.9 ± 0.9. At the end of the follow-up, the whole group exhibited decreased BMI z-score and LDL-cholesterol when compared to the initial visit. In the subset of subjects in whom OGTT was performed, 2-hour glucose and peak insulin were decreased. Compared to children with ≤ 2 OV/year, those with > 2 OV/year (3.19 ± 0.7) exhibited a significant decrease in their BMI z-score, LDL-cholesterol, 2-hour glucose, and peak insulin.
Our study suggests that a periodical (~ 3 OV/yr) evaluation in a non-intensive, long-term weight management program may significantly improve the degree of obesity and cardiovascular risk factors in childhood.
PMCID: PMC3583120  PMID: 22682162
Obesity; Weight loss; Dyslipidemia; Impaired glucose tolerance; Insulin resistance
6.  Effect of Prolonged Discontinuation of L-Thyroxine Replacement in a Child with Congenital Hypothyroidism 
Case Reports in Endocrinology  2012;2012:841947.
When diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes the importance of a consistent adherence to treatment in preventing such complications, especially in infancy and early childhood.
PMCID: PMC3420680  PMID: 22953072
7.  Cardiac involvement in patients with Spinal Muscular Atrophies 
Acta Myologica  2011;30(3):175-178.
The spinal muscular atrophies (SMAs) include a group of disorders characterized by progressive weakness of the lower motor neurons. Several types of SMAs have been described based on age onset of clinical features: Acute infantile (SMA type I), chronic infantile (SMA type II), chronic juvenile (SMA type III), and adult onset (SMA type IV) forms. The incidence is about 1:6,000 live births with a carrier frequency of 1:40 for the severe form and 1:80 for the juvenile form. The mortality and/or morbidity rates of SMAs are inversely correlated with the age at onset. SMAs are believed to only affect skeletal muscles; however, new data on SMA mice models suggest they may also impact the heart.
Aim of the study was to retrospectively examine the cardiological records of 37 type molecularly confirmed II/III SMA patients, aged 6 to 65 years, in order to evaluate the onset and evolution of the cardiac involvement in these disorders. All patients had a standard ECG and a routine echocardiography. The parameters analysed were the following: Heart rate (HR), PQ interval, PQ segment, Cardiomyopathic Index (ratio QT/PQs), ventricular and supraventricular ectopic beats, pauses ≥ 2,5msec, ventricle diameters, wall and septum thickness, ejection fraction, fiber shortening.
The results showed that HR and the other ECG parameters were within the normal limits except for the Cardiomyopathic Index that was higher than the normal values (2,6-4,2) in 2 patients. Left ventricular systolic function was within the normal limits in all patients. A dilation of the left ventricle without systolic dysfunction was observed in only 2 patients, aged respectively 65 and 63 years; however they were hypertensive and/or affected by coronary artery disease. Data here reported contribute to reassure patients and their clinicians that type II/III SMAs do not present heart dysfunction.
PMCID: PMC3298107  PMID: 22616198
Spinal Muscular Atrophies; heart involvement; cardiomyopathy
8.  Bifid T waves in leads V2 and V3 in children: a normal variant 
The T wave is rarely bifid, apart from patients with long QT syndrome or subjects treated with antiarrhythmic drugs. At times, a U wave partially superimposed upon the T wave is responsible for an apparently bifid T wave. Bifid T waves, in contrast, have been described in normal children in the past, but the phenomenon has not received any attention in recent years, to the extent that it is not mentioned in current textbooks of paediatric cardiology. Aim of the present study was to determine the incidence and clinical counterpart of bifid T waves in a paediatric population.
We selected 604 consecutive children free from clinically detectable heart disease; subjects whose electrocardiogram showed a bifid T wave underwent a complete clinical and echocardiographic examination. In addition, the electrocardiograms of 110 consecutive adults have also been analyzed. A T wave was considered as bifid whenever it was notched, being the 2 peaks separated from each other by a notch with duration ≥ 0.02 sec and voltage ≥ 0.05 mV. Moreover, in 7 children with bifid T wave in lead V2 further precordial recordings were obtained: a small electrode was gradually moved from V1 to V3, and 4 additional leads were recorded: 2 between V1 an V2, and 2 between V2 and V3.
A bifid T wave was observed in 110 children (18,3%), with a relatively age-related incidence; the highest rate of bifid T waves (53%) occurred in the group of 5-year-old children. The bifid T wave was detected only in lead V2 in 51 cases (46,4%), only in lead V3 in 5 cases (4,6%), in both leads V2 and V3 in 50 cases (45,4%), and in leads other than V2 and V3 in 4 cases (3,6%). In the adult group, none of the examined electrocardiograms showed bifid T waves in any lead.
In the bifid T wave paediatric population, the echocardiogram did not reveal any abnormality, apart from 3 subjects which had an asymptomatic mitral valve prolapse; a trivial mitral and/or tricuspid regurgitation detected by color Doppler, as well as a patent foramen ovale in infants, were not considered as abnormal findings. The QTc interval was normal in all of the subjects; the average QTc interval was not different in the bifid T wave population (402 ± 46 msec) with respect to the control group (407 ± 39 msec).
The incidence of bifid T waves in leads V2 and V3 in normal children is high, and awareness of this phenomenon avoids possible misinterpretations leading to a diagnosis of ECG abnormalities.
PMCID: PMC2726157  PMID: 19558653

Results 1-8 (8)