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Biomedical subjects

T Arrigo

Publications and source records attributed to T Arrigo.

At least 19 recordsLinked to original sources
PubMed2006

Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development.

UNLABELLED: Anterior pituitary agenesis (APA) has very rarely been reported. Therefore, its phenotypical and genotypical features are not well known. The aim of this study was to ascertain whether the clinical picture in 4 subjects with APA and multiple pituitary hormone deficiencies (MPHD) was different compared to the one observed in a selected control group consisting of 7 MPHD individuals with hypoplastic (and not aplastic) adenohypophysis and pituitary stalk interruption syndrome. Another goal was to investigate genetic basis of APA by analyzing for the first time in this condition many of the transcriptional factors which are required for both structural development and cellular differentiation of hypophysis. Age at diagnosis was significantly lower in APA children than in controls (1.5+/-2.3 vs 11.1+/-7.6 yr, p<0.0005). Microphallus and neonatal cholestasis were observed only in APA subjects (chi-squared=4.3, p<0.05) and also neonatal hypoglycemia was more frequent in APA patients than in controls (X2=4.05, p<0.05). Molecular analyses of the genes of the transcriptional factors POU1F1, PROP1, LHX3, LHX4, ISL1 and HESX1 detected no mutations in APA patients. CONCLUSIONS: a) if compared with a selected cohort of MPHD patients with both adenohypophysis hypoplasia and pituitary stalk interruption syndrome, the ones with APA show an earlier and more severe picture of hypopituitarism; b) mutations in several transcription factors that are known to be essential for the development of Rathke's pouch are not necessarily found in humans with APA.

Child, Preschool↗
PubMed2006

Testicular microlithiasis heralding mixed germ cell tumor of the testis in a boy.

The clinical implications of the association between testicular microlithiasis (TM) and germ cell tumor (GCT) of the testis are still debated since the natural history of incidentally discovered TM has not been defined. Therefore, it is questionable whether TM can be considered as a precursor of malignancy. We are reporting the case of a 9-yr-old boy with a mixed GCT who had presented 3 yr earlier with TM and hydrocele. This evolution suggests that testicular GCT may develop some years later in a boy with pre-existing and incidentally discovered TM. Our case history and other reports of the literature might suggest a strong association between both conditions, thus vindicating the view that individuals with TM should have clinical and ultrasound follow-up. Longitudinal evaluation may be particularly indicated in the patients with additional testicular dysgenetic features, apart from TM.

Child↗
PubMed2006

Tahini, a little known sesame-containing food, as an unexpected cause of severe allergic reaction.

We describe the case of a young woman with asthma and confirmed food allergy to sesame who had 2 severe systemic reactions after the inadvertent ingestion of tahini, a paste made with ground sesame seeds that is not generally known by physicians and patients as a sesame-containing food. A double-blind placebo-controlled food challenge confirmed the allergy to tahini in our patient. As new products and recipes are being introduced from around the world on a regular basis, it is essential that at-risk patients are able to obtain information about allergens used as ingredients and as potential contaminants. This should be applied not only to packaged food but also to freshly made foods, such as those served in restaurants.

Adult↗
PubMed2004

Nutritional, glycometabolic and genetic factors affecting menarcheal age in cystic fibrosis.

Aims of this study were to investigate menarcheal age (MA) and menarcheal determinants in 25 girls with cystic fibrosis (CF) and to compare their MA with their respective mothers'. Patients' MA (13.3 +/- 1.1 yr) was on average significantly higher (p<0.0005) than that of the respective mothers (12.2 +/- 1.0 yr) and positively related to it (r=0.055, p<0.005). Six girls experienced menarche after 14.2 yr, ie after the uppest limit of their mothers' MA range. The only parameter which significantly differentiated these 6 patients from the remaining 19 cases was body mass percentile (BMP). Moreover, in the entire patient series a negative correlation was found between MA and BMP. None of the other clinical parameters correlated significantly with MA. No differences in terms of MA were detected in the subgroups of patients with a different glucose tolerance (GT) status and the 12 girls with a pathological GT were not older at menarche than those with normal GT. No correlations were found between either glucose or insulin areas during oral GT test and MA. In the subgroups of patients with a different genotype menarche occurred at a similar age, irrespectively of their genotype. On the basis of our findings we conclude that: a) a menarcheal delay of approximately 1 yr exists between CF girls and their mothers; b) menarcheal delay in CF is not related to either genotype or disease severity or glycometabolic status; c) the only two factors which are able to affect MA in CF are maternal MA and nutritional status.

Adolescent↗
PubMed2003

Natural history of glucose tolerance, beta-cell function and peripheral insulin sensitivity in cystic fibrosis patients with fasting euglycemia.

OBJECTIVE: The loss of pancreatic beta-cells is thought to be one of the principal causes of diabetes mellitus (DM) in cystic fibrosis (CF), but the role of peripheral insulin resistance (IR) in the pathogenesis of DM in CF remains unclear. The aim of this study was to evaluate whether eventual changes of glucose tolerance (GT) over time were associated with modifications of insulin secretion or sensitivity. METHODS: Plasma glucose and insulin responses to an oral GT test (OGTT) were investigated and reinvestigated 13 Years later in 14 CF patients with initial and persistent fasting euglycemia and no history of insulin treatment. Insulin sensitivity (IS) at both tests was assessed on the basis of insulin and glucose levels both in the fasting state and during OGTTs. RESULTS: From the 1st to the 2nd OGTT: (a) the prevalence of DM responses significantly increased; (b) the areas beneath the respective glucose and insulin curves significantly increased and decreased respectively; (c) IR and IS indices decreased and increased respectively, even in the patients who developed DM; (d) pulmonary function significantly worsened in the entire series, especially in the patients who developed DM. CONCLUSIONS: (i) the natural history of glyco-metabolic status in CF is characterized by deteriorating GT over time; (ii) insulinopenia plays a prominent role in the pathogenesis of GT worsening; (iii) IR does not play any significant part in the pathogenesis of DM development; (iv) deterioration of lung function tests is more severe in the subjects who develop DM over time.

Adolescent↗
PubMed2002

Three-year prospective evaluation of glucose tolerance, beta-cell function and peripheral insulin sensitivity in non-diabetic patients with thalassemia major.

The aim of this prospective study was to evaluate the evolution of glucose tolerance (GT), insulin secretion and peripheral insulin sensitivity during a 3-yr follow-up in a homogenous population consisting of fourteen non-diabetic adults with thalassemia major (TM). All the patients underwent 2 OGTTs with a 3-yr interval and random measurements of fasting glycemia during the entire follow-up. At the time of both OGTTs, peripheral insulin sensitivity was assessed by both homeostatic model assessment (HOMA) index and a novel index derived from the OGTT. At the second OGTT patients exhibited both significantly higher fasting glucose concentrations and enhanced glycemic responses, with greater average glucose areas. GT deterioration over time was accompanied by a reduction of insulin sensitivity, with no concomitant change of insulin secretion. No patient developed diabetes mellitus (DM) during follow-up. To conclude, the natural history of glycometabolic status in TM adults seems to be characterized by a GT deterioration over time, which may probably reflect an increase of insulin resistance. GT deterioration is more evident in patients with the highest responses to the 1st OGTT and particularly in those with pre-existing impaired GT.

Adult↗
PubMed2002

Two-year prospective evaluation of the factors affecting honeymoon frequency and duration in children with insulin dependent diabetes mellitus: the key-role of age at diagnosis.

The aim of this study was to investigate the influence of pre-treatment variables on subsequent insulin requirement (IR) and partial remission (PR) in children with insulin-dependent diabetes mellitus (T1DM). Sixty-seven children with newly diagnosed T1DM, admitted to our Clinic during a 3-year recruitment period, were longitudinally evaluated for 2 yr. Patients were characterized by sex, age, parental education, duration of symptomatic history at diagnosis, admission duration, ketoacidosis or absence of ketoacidosis and residual beta-cell activity. More than 80% of the children experienced a PR, which lasted more than 12 months in 41.7% and at least 24 months in 16.4% of cases. The prevalence of PR at different ages after T1DM onset was significantly lower in children diagnosed while younger than 5 years than in those diagnosed after 5 years. The mean duration of the remission period was 11.7 +/- 8.9 months, irrespectively of sex, duration of the symptomatic period preceding T1DM diagnosis, parental education, blood pH and base excess, HbA1c concentration and admission duration. Beta-cell residual function evaluated after glucagons stimulation test (basal and 6 min C-peptide) was statistically different in PR patients and in those who experienced no remission. Age at diagnosis was the only pre-treatment factor which, on stepwise regression analysis, affected both PR duration and IR at the end of follow-up. To conclude, honeymoon frequency and duration are strictly conditioned by both residual beta-cell function and IR at T1DM onset. Since IR is higher in younger subjects, early onset of T1DM can be considered the factor with the most detrimental influence on honeymoon incidence. Other pre-treatment variables have no significant impact on PR.

Age Factors↗
PubMed2000

Long-term results with growth hormone therapy in idiopathic hypopituitarism.

More than 30 years after its introduction, growth hormone (GH) treatment is well established in children with GH deficiency. Nevertheless, the long-term results of this therapy, expressed as height, are generally considered unsatisfactory. We report on results obtained in a group of GH-deficient children who were treated with daily injections of recombinant GH within the first 5 years of life and who reached an adult height very close to their target height. The full catch-up growth to the target height demonstrated in these patients suggests that replacement therapy should be started early and continued until adulthood. Height at onset of puberty is an important variable which might significantly influence the adult height. The significant and prolonged influence of birth weight on growth response to GH therapy underlines the important role of fetal growth in planning early treatment of GH-deficient children.

Body Height↗
PubMed2000

Etiology and age incidence of precocious puberty in girls: a multicentric study.

We review the etiology and age incidence of precocious puberty in 438 girls examined between 1988-1998; 428 (97.7%) had central precocious puberty (CPP), the remaining 10 (2.3%) gonadotropin-independent precocious puberty (GIPP) of ovarian origin. The majority of CPP girls (59.6%) were aged between 7-7.9 yr, 22.4% were 6 year olds, and only 18% were under 6 years old. Cranial CT and/or MRI performed in 304/428 girls, showed neurogenic abnormalities in 56/304 (18.4%) CPP girls; 30 (9.9%) were due to previously diagnosed intracranial abnormalities and the remaining 26 (8.5%) were detected at the diagnosis of CPP. The frequency of neurogenic CPP tended to be higher in girls under 4 years of age while the frequency of idiopathic CPP tended to be higher in girls aged between 7-7.9 years, but no statistically significant differences were found. Interestingly, some CNS anomalies either of tumoral or congenital origin were detected at presentation in 7% of the girls aged over 7 years. Other related or coincidental clinical anomalies, mainly due to genetic diseases, were observed in 22/304 (7.2%) patients. History of precocious maternal menarche was found in 12/304 (4%) girls. In conclusion, idiopathic CPP was observed in 74% of the girls in this study. Neurogenic anomalies or other coincidental or related clinical findings were observed in the remaining 26%. The increased frequency of idiopathic CPP in girls aged over 7 years may suggest an early, but otherwise normal onset of puberty in many of these girls as a consequence of the trend towards earlier maturation. Nonetheless, the finding of CNS anomalies also in the older patients, raises the question of whether these patients should undergo a complete diagnostic work-up.

Abnormalities, Multiple↗
PubMed2000

When to stop GnRH analog therapy: the experience of the Italian Study Group for Physiopathology of Puberty.

Data reported in this study have been recently published elsewhere. The authors retrospectively analyzed the auxological response to GnRH agonist treatment and the final height (FH) outcome in 71 girls with idiopathic and truly precocious (onset before 8 years) central puberty (CTPP), who had been treated with the same therapy protocol (Decapeptyl Depot at the dose of 60 microg/kg i.m. every 28 days) for at least 2 years (since 7.0 +/- 1.3 yr) and followed until puberty was completed and FH was reached. During the entire treatment period we observed: A) a decrease of height standard deviation scores (SDS) (from 1.5+/-1.7 to 0.9+/-1.3 SDS, p<0.01); B) a striking deceleration of BA, revealed by the subnormal deltaBA:deltaCA ratio (0.2 +/- 0.1); C) an increase of predicted adult height (from 155.6+/-7.0 to 160.7+/-6.7 cm, p<0.0005). Treatment interruption was followed by notable catchdown growth, with FH (158.4 +/- 5.8 cm) lower (p < 0.025) with respect to that predicted at the end of therapy. However FH fell within the population norm and the target range in 87.3% and 90% of patients, respectively. The tallest FH was recorded in the patients who discontinued treatment at a BA of 12.0-12.5 years. We conclude that: 1) Most girls with idiopathic CTPP treated by GnRH agonists may achieve an adult height within the population norm and/or their target range; 2) The height gain from therapy onset until FH attainment, however, is generally rather limited (on average 2.9 cm) and only few patients are able to reach their target percentile; 3) The most favorable height prognosis with respect to target height (TH) is generally observed in the patients with the tallest H2 and the lowest BA2:CA2 ratio, due to the notable deterioration of height prognosis which frequently follows therapy interruption; 4) In order to strengthen the weak therapeutic effect of GnRH agonists in CTPP, this treatment should be discontinued at a BA of 12-12.5 years.

Body Height↗
PubMed2000

End results in central precocious puberty with GnRH analog treatment: the data of the Italian Study Group for Physiopathology of Puberty.

We report some end results with GnRH agonist (GnRHa) treatment in central precocious puberty (CPP), in terms of final height (FH), ovarian function, peak bone mass, body composition and psychological problems. The two studies reported (Study I and II) are part of the activity of the Italian Study Group for Physiopathology of Puberty. Study L Growth data were analyzed of three groups of patients: treated with i.n. spray buserelin, i.m. triptorelin and untreated. Both GnRHa administration modes were effective in arresting pubertal development and all girls had complete recovery of the reproductive axis after therapy. Treated patients showed an improvement in final height in comparison with untreated patients and compared to predicted height at the start of treatment with both agonist treatments. However, patients treated with the long-acting slow release preparation had a better improvement in adult height and reached or exceeded the genetic height potential. Study II. In a retrospective evaluation of the outcome in 71 girls with idiopathic CPP treated with triptorelin, we found that FH fell within the population norm and the target range in 87.3% and 90% of the patients respectively. The tallest FH was recorded in the patients who started therapy at less than 6 years of age and in those who discontinued treatment at a bone age of 12.0-12.5 yr. Finally, we and other groups have recently found normal values of bone mineral density in girls at the end of GnRHa treatment in the great majority of patients.

Aerosols↗
PubMed2000

Birth weight influences long-term catch-up growth and height prognosis of GH-deficient children treated before the age of 2 years.

OBJECTIVE: To investigate which pretreatment variables most significantly affect long-term growth response to GH therapy in children with apparently idiopathic GH deficiency (GHD) treated from a similar and very young age (less than 2 years), for the same period (7 years) and with the same therapeutic protocol. DESIGN AND METHODS: Twelve children with either isolated GHD or multiple pituitary hormone deficiency were treated with biosynthetic human GH (0.7IU/kg per week) and were examined every 6 months. Height measurements were performed by Harpenden stadiometers. Bone age was evaluated every 12 months. RESULTS: The onset of therapy was followed in all patients by an important height gain, which attained its zenith during the first year of treatment and became progressively less evident during the next 4 years. Cumulative height gain was 3.0+/-1.7SDS. Thanks to the therapy, at the end of the 7-year treatment period, average height in the entire series was not significantly far from mean target height (TH) (-0.7+/-1.3 vs -0. 3+/-0.4SDS) and average predicted height (PH) (-0.2+/-1.4SDS) was very close to TH. A stepwise regression analysis showed that both catch-up growth under therapy and PH at the end of the 7-year treatment period were positively influenced by birth weight (BW). CONCLUSIONS: a) Our 7-year prospective study on GHD infants treated with GH from less than 2 years of age confirmed the importance of early diagnosis and treatment of GHD in childhood. b) The influence of BW on growth response to GH therapy in GHD children persists over time, at least when treatment is begun from less than 2 years of age.

Age Factors↗
PubMed1999

Factors affecting diabetes mellitus onset in cystic fibrosis: evidence from a 10-year follow-up study.

This study reports the results of genotype characterization and of a 10-y prospective evaluation of clinical status, glucose tolerance and insulin secretion in 28 originally normoglycaemic patients with cystic fibrosis (CF). The aim of the study was to assess whether any genetic, clinical or metabolic parameters could identify in advance those patients at risk of developing diabetes mellitus over time. During the follow-up 42.8% of patients became diabetic. Neither gender, age nor clinical parameters were significantly different at entry in the patients who eventually developed diabetes compared with those who did not. Insulin secretion during oral glucose tolerance tests (OGTT) deteriorated over time in both groups, whereas a progressive deterioration of glucose tolerance was only evident in the patients who developed diabetes and increased baseline glucose areas were the only predictive parameter of diabetes onset. Genotype analysis revealed significant differences between patients with and without diabetes: deltaF508 homozygosis was more frequent in the first group and N1303K mutation in the second group. In conclusion, in CF: (i) increased glucose areas during OGTT and deterioration of glucose tolerance over time can predict the evolution towards diabetes; and (ii) deltaF508 homozygosis may predispose to the risk of diabetes, whilst N1303K mutation seems to play a protective role.

Adolescent↗
PubMed1999

Analysis of the factors affecting auxological response to GnRH agonist treatment and final height outcome in girls with idiopathic central precocious puberty.

The aim of this retrospective study was to analyze the factors which affected the auxological response to GnRH agonist treatment and the final height (FH) outcome in 71 girls with idiopathic and truly precocious (onset before 8 years) central puberty (CTPP) who had been treated with the same therapy protocol (Decapeptyl Depot, 60 microg/kg i.m. every 28 days) for at least 2 years (since 7.0+/-1. 3 (S.D.) years of age) and followed until puberty was completed and FH was reached. During the entire treatment period we observed: (a) a decrease of height standard deviation scores (SDS) (from 1.5+/-1.7 to 0.9+/-1.3 SDS, P<0.01); (b) a striking deceleration of bone age (BA), revealed by the subnormal DeltaBA:Deltachronological age (CA) ratio (0.2+/-0.1); (c) an increase of predicted adult height (from 155.6+/-7.0 to 160.7+/-6.7 cm, P<0.0005). Treatment interruption was followed by an important catch-down growth, with an FH (158.4+/-5.8 cm) lower (P<0.025) than that predicted at the end of therapy. However, FH fell within the population norm and the target range in respectively 87.3 and 90% of the patients. The tallest FH was recorded in the patients who started therapy at less than 6 years of age and in those who discontinued treatment at a BA of 12.0--12.5 years. At stepwise regression analysis, FH in the whole study population was positively affected by the following independent factors: (a) height at the end of therapy (F=45.45, P<0.0001); (b) pretreatment height (F=13.91, P<0.0005); (c) treatment duration (F=8. 51, P<0.005); (d) target height (TH) (F=7.70, P<0.01). We conclude that: (i) most girls with idiopathic CTPP treated by GnRH agonists may achieve an adult height within the population norm and/or their target range; (ii) the height gain from therapy onset until FH attainment, however, is generally rather limited (on average 2.9 cm) and only few patients are able to reach their target percentile; (iii) the most favorable height prognosis with respect to TH is generally observed in the subjects with the tallest height at the end of treatment and the lowest BA2:CA2 ratio, due to the important deterioration of height prognosis which frequently follows therapy interruption; (iv) FH is also significantly conditioned by both TH and treatment duration; (v) in order to strengthen the weak therapeutic effect of GnRH agonists in CTPP this treatment should be started as early as possible and discontinued at a BA of 12.0--12.5 years.

Age Factors↗
PubMed1998

[Hypopituitarism during the first year of life. A collaborative Italian study].

Literature data on statural growth effect of growth hormone (GH) treatment of children with GH deficiency (GHD) appears disappointing when treatment had late onset. It seems therefore that GH treatment should be started as early as possible, thus requiring early diagnosis. This study was undertaken: 1) to define the main characteristics of early onset GHD which may help the clinician for early diagnosis; 2) to evaluate the effect of a GH treatment on the statural growth of early onset GHD, when treatment is started before 1 year of age. Sixteen children with GHD diagnosed before 1 year of age were included in the study; all of them received a GH treatment before 1 year of age and for a minimal duration of 5 years; four had isolated GHD secondary to a GH gene deletion (type 1A GHD). Based on this series, the main anamnestic and clinical characteristics of early onset GHD are: frequent perinatal pathology, short birth height in more than half of the cases, relatively elevated birth weight in all cases, poor statural growth with neonatal onset, associated signs (hypoglycemia, special facies, micropenis, cryptorchidism, liver dysfunction). The effect of GH treatment (> or = 5 years) on statural growth was limited and transient in children with type 1A GHD, and resulted in an incomplete catch-up growth in children with sporadic GHD, their mean height remaining significantly below their target height.

Age of Onset↗
PubMed1998

The effect of different growth hormone administration frequencies on growth in growth hormone-deficient patients.

UNLABELLED: In two different groups of clinically prepubertal children (bone age </=8 years) with isolated growth hormone deficit we have evaluated either if the substitutive therapy administered by pump (permitting between 20.00 and 08.00 h the association of continuous and intermittent subcutaneous growth hormone administration) could improve growth (study A) or if a 3 times/week schedule treatment could be performed without any negative effect on growth with respect to 6 injections/week (study B). All patients had been previously successfully treated for at least 2 years by the same dose used during both studies (0.6 IU/kg/week) administered at bedtime 6 times/week. Study A: Each child underwent at bedtime both pump administration (6 months) and single daily injection (6 months). The circulating IGF-I pattern as well as the growth velocity and the ratio bone age increase/height age increase did not differ during the two treatment regimens. Study B: No differences were observed in auxological parameters during the treatment schedule on 3 times/week compared to the previous year on 6 times/week. IN CONCLUSION: Our treatment, consisting of the association of continuous and intermittent subcutaneous growth hormone administration, did not improve growth velocity with respect to single daily subcutaneous injection; the growth hormone administration 3 times/week, starting at the 3rd year of substitutive therapy or later, seems to have no negative effect on growth with respect to 6 injections/week.

Child↗