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T de Toni

Publications and source records attributed to T de Toni.

At least 19 recordsLinked to original sources
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↗
PubMed1994

[Slipped capital femoral epiphysis and biosynthetic growth hormone therapy. A case report].

The case of an adolescent male with short stature and partial growth hormone deficiency who developed a slipped capital femoral epiphysis during the treatment with recombinant growth hormone is reported in this paper. Our patient started GH therapy with recombinant growth hormone at the dose of 15 U/m2/week administered subcutaneously three times a week. After 6 months of GH therapy there was a satisfactory response to the therapy and his growth velocity improved significantly. Unfortunately the patient had pain of the left hip which was exacerbated by walking. The diagnosis of slipped capital femoral epiphysis was confirmed radiographically and treated surgically with internal fixation of the epiphysis with the use of Moore's pins. Treatment with GH was discontinued. After one year there was the complete resolution of the disease and the adolescent was able to return at his usual way of life. Slipped capital femoral epiphysis is a disease in which the anatomic relationship between the femoral head and neck changes by disruption of the epiphyseal plate. This condition can occur only before the epiphyseal plate closes. Patients vary in age from newborn infant to teenager, nevertheless slipped capital femoral epiphysis is probably the most common hip disease during adolescence, and is often associated with endocrine imbalance including growth hormone deficiency. The aetiology of slipped capital femoral epiphysis is still unknown although many theories have been proposed.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1993

[Validity of self-assessment of pubertal maturation in early adolescents].

Self-assessment measures of sexual maturation continue to be used to classify pubertal development even though their reliability remains in question. This study examined the accuracy of self-assessment measures by early adolescents in one setting, during a day hospital. Standardized figure drawings depicting Tanner's sexual maturation stages were shown to early adolescents, and subjects were asked to rate their own pubertal development. Physical examination by physicians was used to corroborate sexual maturation. Participating in this study were 50 males (10-17 age) and 50 females (9-16 age). A small concordance rate between physical examination and self-assessment has been reported: 14% in males, 16% in females. There was a tendency for subjects males (48%) to overestimate their sexual development at later stages. A great part of the females (40%) answered exactly, with a shift to underestimation (36%) for breast stage and (54%) for pubic hair stage. So, in our experience, the small concordance between physical examination and self-assessment of pubertal maturation can't be used like a not controlled test.

Adolescent↗
PubMed1993

[Nosologic evaluation of Noonan syndrome and description of nine cases].

Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births. The primary biochemical defect in Noonan's syndrome is unknown. We analyzed 9 patients (5 males and 4 females) in an age range of 6 months to 10 years and 3 months with Noonan syndrome. Patients were diagnosed as having the syndrome if they had characteristic facies and a normal karyotype, plus one of the following signs: cardiac defects, short stature or undescended testes. All patients have ocular anomalies (epicanthal folds, ptosis of eyelids, hypertelorism, downslanting palpebral fissures and ocular proptosis). Congenital heart malformations are present in 8 patients and the more frequent cardiopath is pulmonary valve stenosis due to a dysplastic or thickened valve. Short stature is present in 6 patients and 3 of them are actually on treatment with rhGH. A moderate-mild mental retardation is present in 6 patients. Case n. 9 had a syringomyelia and tethered cord. These malformations are rarely reported in Noonan's syndrome.

Blepharoptosis↗