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Biomedical subjects

A Corrias

Publications and source records attributed to A Corrias.

At least 37 records · Page 2Linked to original sources
PubMed2000

Etiology of central precocious puberty in males: the results of the Italian Study Group for Physiopathology of Puberty.

We reviewed the hospital records of 45 boys, followed in 13 pediatric departments throughout Italy, who had undergone computed tomography and/or magnetic resonance imaging for central precocious puberty (CPP). Twenty-seven patients (60%) had idiopathic CPP and 18 (40%) neurogenic CPP. A hamartoma of the tuber cinereum was found in six patients (33%). All patients with hypothalamic hamartoma had earlier onset of symptoms than patients with idiopathic CPP. Five patients (27%) were affected by type 1 neurofibromatosis, two had ependymoma and five patients had an intracranial anomaly. Basal LH and basal and peak LH/FSH ratio were greater, but not significantly, in boys with neurogenic CPP than in boys with idiopathic CPP. The highest LH peak levels were observed in patients with hamartoma; however, no correlation was observed between LH peak and the size of the hamartomas. In addition, bone age at diagnosis was more advanced in patients with hamartoma than in patients with other conditions. In conclusion, gonadotrophin-dependent precocious puberty may be of idiopathic origin or may occur in association with any CNS disorder. Further studies are needed in order to evaluate the effects of nutritional, environmental and psychosocial factors on the timing of sexual maturation, to explain the high incidence of idiopathic CPP in our male patients.

Brain Diseases↗
PubMed2000

Factors influencing final/near-final height in 12 boys with central precocious puberty treated with gonadotrophin-releasing hormone agonists. Italian Study Group of Physiopathology of Puberty.

Gonadotrophin-releasing hormone agonists (GnRHa) have been demonstrated as the therapy of choice for central precocious puberty (CPP). Few studies have provided male patients' adult height data. In our multicenter study we evaluated long-term effects of different GnRHa preparations and final/near-final height (FH) in 12 boys with CPP and analyzed the factors influencing FH. Patients' mean chronological age at the time of diagnosis was 7.6 +/- 0.9 yr. Three patients were treated only with triptorelin at a mean dose of 90 microg/kg i.m. every 28 days. Nine patients initially received buserelin (at a mean initial dose of 53.4 microg/kg/day i.n. divided into 3-6 equal doses) or buserelin (at a mean dose of 36.7 microg/kg/day s.c.) and were subsequently switched to triptorelin. The GnRHa therapy was continued for 4.1 +/- 0.6 yr (range 2.9-5.4). The mean predicted adult height increased from 169.9 +/- 4.2 cm at diagnosis to 180.7 +/- 6.0 cm at the end of treatment. Mean FH was 176.1 +/- 6.1 cm (170.1-190.7), corresponding to mean SDS(CA) 0.4 +/- 0.8 (-0.6/2.5), mean SDSBA 0.2 +/- 0.9 (-0.6/2.4) and mean corrected SDS for target height of 0.4 +/- 0.6 (-0.8/1.2). Multiple regression analysis revealed that FH was mainly influenced by target height and height at discontinuation of GnRHa therapy. The present data indicate that GnRHa therapy significantly improves growth prognosis in boys with CPP and fully restores genetic height potential.

Body Height↗
PubMed1999

Two sibs with Malpuech syndrome.

We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1999

Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome.

The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns. The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing severe hyperbilirubinemia and in control subjects from the same population. This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn.

Adult↗
PubMed1999

[Prader-Willi syndrome].

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications.

Diagnosis, Differential↗
PubMed1998

T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.

Resistance to thyroid hormone (RTH) is a rare inherited autosomal syndrome caused by mutations in the thyroid hormone receptor beta (TRb) gene. Although RTH is generally a familiar disease, 15% of sporadic cases have been also reported. So far, about 80 different mutations of TRb gene have been identified in patients affected by RTH. All these mutations localize to the binding domain and most of them cluster within two "hot spots" (codons 310-349 and codons 429-460). Here we describe in a patient with RTH, a new mutation in codon 426 (T426I) of the TRb gene leading to a threonine to isoleucine substitution. This is a "de nova" mutation which localizes in the so-called "cold" region, outside the two known "hot spots". The patient had the hallmark of RTH: elevated FT3 and FT4, normal TSH, and clinical features of both hypo and hyperthyroidism. Moreover, several dysmorphisms were present including triangular face appearance, synophris, low set ears, micrognathia with malocclusion, large upper incisors and apparent lack of lower cuspids which have not previously described in RTH patients.

Craniofacial Abnormalities↗
PubMed1997

Asthma self-management programmes in a population of Italian children: a multicentric study. Italian Study Group on Asthma Self-Management Programmes.

This study was designed to answer three main questions: 1) Does asthma self-management education reduce asthma morbidity? 2) Are the two programmes "Living With Asthma" and "Open Airways" equally effective in doing so? 3) Is a shortened version of these programmes (4 weeks) as effective as the longer original programme (8 weeks)? Twelve Italian centres of paediatric bronchopneumology selected 312 children with asthma, who were stratified by disease severity, gender and age, and then randomly assigned to an Experimental group which received an educational programme or to a Comparison group, which did not. Of the 312 children selected, 209 (114 Experimental and 95 Comparison) completed the educational protocol and a 1 year follow-up. Data recorded during the last 2 months of follow-up, 10 months after the educational intervention, showed that the Experimental group required significantly fewer emergency treatments: this reduction was more evident in the more severe asthma cases. In the Experimental, but not in the Comparison group, patients with more severe asthma consumed more medications than patients with milder asthma "Open Airways" yielded, in some cases, better results than "Living with Asthma": but a type 2 error is possible. The standard and the shortened programmes proved equally effective. In conclusion, following education, regardless of receiving a short or long educational programme, asthma patients use emergency care services less and use medications more appropriately in comparison with standard care without education. This suggests that short educational programmes can be highly cost-effective in children with asthma.

Asthma↗
PubMed1995

Systemic reactions to specific immunotherapy in children with respiratory allergy: a prospective study.

The aim of this multi-centre prospective study was to evaluate the prevalence of systemic reactions to specific immunotherapy in children with allergic asthma and or rhinitis. One thousand and fifty-six children (653 boys and 403 girls), median age 8.5 years, were enrolled in this three-year prospective study. All the children were treated with injections of the following allergenic extracts: 689 of house dust mite, 291 of grass, 109 of Parietaria, 13 of Alternaria, 6 of Artemisia and 11 of Olea. Among 1056 treated children, 41 (3.7%) had systemic reactions: 40 children (3.7%) experienced mild symptoms such as asthma and/or urticaria, and only one shock (0.08%). A total of 47,247 injections were administered, and the rate of systemic reactions, according to the number of total injections was only 0.08%. According to the allergenic extract, systemic reactions occurred in 29/689 children (4.2%) treated with house dust mites extract (0.09% of the injections), in 9/291 children (3.1%) treated with grass extract (0.07% of the injections) and in 3/109 children (2.8%) treated with Parietaria extract (0.06% of the injections). The prevalence of systemic reactions was significantly higher (p < 0.0001) in the children treated with house dust mite extract in comparison with those treated with pollen extracts. All the systemic reactions appeared within 30 minutes following the administration of the extract and occurred in 37/41 cases (90.2%) with the same dose, previously tolerated. Most reactions were mild, and were readily controlled by immediate emergency treatment. There was no need for hospitalization.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1995

Use of combined Gn-RH agonist and hGH therapy for better attining the goals in precocious puberty treatment.

We studied 30 girls (age 6.36 +/- 1.21 years, range 4.6-8.8) affected by idiopathic precocious puberty with significant reduction of height velocity (below the 25th centile) at the end of 1 year of Gn-RHa (triptorelin intramuscular depot) treatment, to evaluate GH-IGF-I axis activity and the effects of combined Gn-RHa plus hGH therapy. After 12 months, 15 patients continued Gn-RHa and started hGH therapy for 12 months, while 15 continued treatment with Gn-RHa alone (control group). We evaluated height velocity, bone age, urinary GH, serum IGF-I and IGFBP-3 levels throughout the study; plasma GHBP levels were determined only in the first 12 months of Gn-RHa treatment. Height velocity decreased significantly during Gn-RHa treatment; it increased significantly and became higher than the control group after 12 months of Gn-RHa plus hGH treatment. During Gn-RHa therapy alone, bone age progressed less than chronological age, while in the 12 months of Gn-RHa plus hGH treatment there was a slight nonsignificant increase in bone age progression in comparison to controls. Serum IGF-I and IGFBP-3 levels decreased significantly at 12 months of Gn-RHa therapy and increased significantly after Gn-RHa plus hGH treatment. Urinary GH levels showed the same behavior. Plasma GH binding to peak II-BP, slightly lower than the prepubertal normal range before treatment, significantly increased after 12 months of Gn-RHa treatment. Therefore, in these girls, during Gn-RHa treatment alone, we have a reduction in GH-IGF-I axis activity. During Gn-RHa plus hGH therapy there was a significant increase in height velocity, in urinary GH levels, in serum IGF-I and IGFBP-3 levels. Bone age did not seem to advance faster than chronological age and this may imply a better prediction in adult height. In our opinion, only in a small percentage of patients affected by precocious puberty (with a very low predicted adult height or an important reduction of growth velocity during Gn-RHa treatment) may an association with hGH therapy be useful.

Body Height↗
PubMed1994

Final height in girls with central precocious puberty: comparison of two different luteinizing hormone-releasing hormone agonist treatments.

In order to evaluate the effects of two long-acting luteinizing hormone-releasing hormone agonists on growth, bone maturation and final height in girls with central precocious puberty, we analyzed growth data from 40 girls (15 treated with buserelin intranasal spray (group A), 15 treated with triptorelin depot im every 28 days (group B) and 10 untreated (group C)). Patients in group A started treatment when chronological age (CA) was 7.7 +/- 0.9 years, bone age (BA) was 10.2 +/- 1.1 years and height was 131.9 +/- 5.0 cm. Patients in group B started therapy when CA was 7.6 +/- 0.5 years, BA 9.8 +/- 1.0 years and height 133.2 +/- 7.6 cm. The diagnosis of untreated patients (group C) was made when CA was 7.2 +/- 0.9 years, BA 9.6 +/- 2.2 years and height 130.2 +/- 8.6 cm. Both luteinizing hormone-releasing hormone agonists appeared to control precocious puberty. Final height in group B (160.6 +/- 5.7 cm) was significantly higher than that of group A (153.2 +/- 5.0 cm: p < 0.05) and group C (149.6 +/- 6.3; p < 0.01), whereas the difference between groups A and C was not statistically significant. In group B a positive difference was observed between final height (160.6 +/- 5.7 cm) and target height (157.6 +/- 5.9 cm) (ns); on the contrary, in groups A and C, final height was lower than target height (155.5 +/- 5.3 and 156.4 +/- 1.3 cm, respectively), but only in group C the difference was statistically significant (p < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Intranasal↗
PubMed1994

Double-blind study of cetirizine in atopic eczema in children.

An 8-week, double-blind study of the clinical efficacy of cetirizine was performed in a group of 6 to 12-year-old children suffering from atopic eczema. Patients were enrolled in the study if they presented the diagnostic criteria of atopic dermatitis established by Hanifin and Rajka. Pruritus in the cetirizine-treated group diminished significantly more rapidly than in the control group receiving only placebo. During the 8 weeks of the study, diary card scores showed a statistically significant decrease in erythema and other cutaneous symptoms, such as lichenification, in the cetirizine group. The children's parents did not observe any side effects (somnolence or decreased attention) during the study. The results of this preliminary study suggest that cetirizine can effectively control pruritus and other cutaneous symptoms in children suffering from atopic eczema without noticeable side effects.

Cetirizine↗
PubMed1993

Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.

Abnormalities, Multiple↗
PubMed1991

Hyperplastic polyp of the stomach simulating hypertrophic pyloric stenosis.

We describe a rare case of hyperplastic polyp of the stomach having its clinical origin in the neonatal period and initially stimulating hypertrophic stenosis of the pylorus. After this neoformation, which almost completely obstructed the pylorus, was endoscopically removed, vomiting ceased and a rapid weight gain was observed. It is known that tumors are a rare cause of gastric outlet obstruction if compared with hypertrophic stenosis of the pylorus. However, our experience suggests that in the case of atypical symptoms, the investigations should be extended, especially to endoscopic examination of the upper digestive tract.

Diagnosis, Differential↗
PubMed1989

Effect of cholinergic enhancement by pyridostigmine on growth hormone secretion in obese adults and children.

In obesity the reduced growth hormone (GH) responses to several provocative stimuli including growth hormone-releasing hormone (GHRH) indicate a diminished somatotroph responsiveness but do not distinguish between primary pituitary and hypothalamic pathogenesis. However, it has been shown that the cholinergic system positively influences Gh secretion likely by modulating somatostatin release in a negative way. Thus, the effect of cholinergic activity enhancement by pyridostigmine (PD), an acetylcholinesterase inhibitor, on both basal and GHRH-induced GH secretion was studied in 14 obese subjects (eight adults and six children). Eighteen nonobese subjects (seven adults and 11 children) were studied as controls. In obese subjects the GHRH-induced GH increase was lower than in controls (peak, mean +/- SEM, adults, 9.2 +/- 2.7 v 16.8 +/- 5.7 ng/mL; children, 8.0 +/- 0.8 v 20.3 +/- 4.6 ng/mL) attaining statistical significance only in children group (P less than .02). The PD-induced GH response in the two obese groups was similar to that observed in relative controls (adults, 5.3 +/- 1.0 v 7.4 +/- 1.7 ng/mL; children, 9.6 +/- 1.6 v 13.3 +/- 1.4 ng/mL). PD clearly potentiated the GH response to GHRH in obese subjects, both adults (P less than .05 v GHRH alone) and children (P less than .0005 v GHRH alone). However, the GH responses to PD + GHRH was significantly reduced in obese subjects compared with controls (adults, 18.1 +/- 2.2 v 42.7 +/- 10.7 ng/mL, P less than .05; children, 28.3 +/- 4.5 v 58.2 +/- 7.7 ng/mL, P less than .01). In conclusion, PD is able to potentiate the blunted GH responses to GHRH in obese adults and children, inducing a GH increase similar to that observed after GHRH alone in normal subjects. This finding suggests that an alteration of somatostatinergic tone could be involved in the reduced GH secretion in obesity.

Adult↗
PubMed1989

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs.

Chromosomes, Human, Pair 13↗
PubMed1989

Spontaneous priapism produced by stenosis of the lumbar canal.

A case of a 64-year-old man with stenosis of the lumbar canal and symptoms of compression of the cauda equina is described. This symptomatology increased after walking and was associated with spontaneous priapism. All symptoms were relieved after surgical decompression.

Cauda Equina↗