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Biomedical subjects

A Liotta

Publications and source records attributed to A Liotta.

At least 19 recordsLinked to original sources
PubMed2006

Gluten-free diet impact on leptin levels in asymptomatic coeliac adolescents: one year of follow-up.

Coeliac disease, daily more frequently diagnosed in our population, involves many organs also in oligosymptomatic patients and with an adequate nutritional regime. Possible endocrine implications include failure to thrive, pubertal delay and reproduction diseases due to deregulation of GH, FSH and LH secretion. Leptin, an adipose tissue hormone, can be decreased as well and its deficiency could be related to growth and puberty anomalies. We studied 14 asymptomatic coeliac patients in peripubertal age (7.5-13.8 years) and tested their leptin levels in order to correlate them with endocrine and anthropometric data. Before the diet was started leptinaemia (M+/-DS) was: 4.94+/-5.53 ng/ml. In 10/14 patients (71%) leptinaemia was<or=2 DS for gender and age. In all the patients, after a period of 6-12 months of gluten-free diet, Leptin levels appreciably raised to 10.8+/-7.9 ng/ml, with a significant correlation to the time of the diet. Leptinaemia was actually lower in patients with a severe mucosal atrophy, and in these patients it increased more significantly after the diet was started. The removal of gluten itself may reduce immunological hit to adipose tissue and the 'malnutrition' of adipocytes: leptin can hence increase despite no significant increase of body mass index occurs. This study could partially explain the correlation between body mass index, Coeliac disease and the deregulation of puberty and fertility, mainly in patients who started the diet late. It could also explain the reversibility of this alteration if the cause is removed.

Adolescent↗
PubMed2006

Hormonal, auxological and clinical follow-up in children with connatal HIV infection. Personal records.

AIM: HIV infection and antiretroviral drugs have relevant endocrine implications, affecting growth and pubertal development. Moreover stature impairment cannot depend only on decreased hormonal secretion. METHODS: We studied for 7 years growth, puberty, bone maturation, hormonal secretion [Growth Hormone (GH) basal and after stimulation with Clonidin and Insulin, Insulin-like Growth Factor 1 (IGF-1), Insulin-like Growth Factor Binding Protein 3 (IGFBP-3), FSH, LH- gonadic hormones axis, ACTH, Cortisol, TSH, fT4, T4, T3, anti-thyroid antibodies, Leptin] of 10 HIV-infected children. RESULTS: In 3 patients stature was <-2 SDS in the first 2 years and in prepubertal age, with intervals of improved growth. The weight was >2 SDS in 6 children, <-2 SDS in 1 girl, while the other 3 patients had a weight <-2SDS only in the first 2 years of life. Height growth velocity was >10 degrees Centile all over the years of follow-up in 9 patients, while weight growth velocity was pathological in 5. Leptinemia showed higher levels at the beginning of follow up: 0.82-11.68 ng/L (M+/-DS: 3.29+/-4.15) than at the end of the study: 0.2-3 ng/L (M+/-DS: 1.65+/-1.01). Leptin levels showed a statistically significant correlation with CD4/CD8 count (P: 0.010; r: 0.916) and with the CDC stage (P: 0.006; r: 0.937), meaning a strong link to the severity of the disease. CONCLUSIONS: A good clinical control of HIV infection can guarantee growth within physiological centile in most of HIV-infected children. Over all IGFBP-3 and IGF-1 are good markers of growth, more usable than GH.

Bone Development↗
PubMed2003

Serum leptin and interleukin-6 levels in pediatric patients with HIV.

Recent therapeutic approaches have improved the prognosis of children with HIV. Many new efforts could be involved in their quality of life and therefore could need additional diagnostic strategies. Leptin regulates pubertal development; furthermore a continuous immune stimulus, as in chronic infectious diseases, can enhance leptin's secretion by the action of cytokines such as interleukin (IL)-6. To clarify this role in patients infected with HIV, we assayed leptin and IL-6 and evaluated the influence of HIV severity on its secretion. IL-6 (380.5 +/- 257.6 pg/ml; range: 22-900 pg/ml) showed a significant correlation with leptinemia, HIV-1 RNA, and viremia related to the stage of HIV disease. The difference in leptinemia from a control group (3 +/- 3.2 ng/ml; range: 1-12 ng/ml in HIV patients; 6.72 +/- 8 ng/ml in the controls) did not reach statistical significance, nor did it correlate with pubertal stage, BMI, viremia, CD4 or anti-retroviral therapy. There was a statistically significant correlation between leptinemia and the stage of the HIV disease, and with IL-6 level. We want to stress the role of immunological factors in enhancing leptin secretion.

Anti-HIV Agents↗
PubMed2003

Interstitial deletion of the long arm of chromosome 1 (1q 25-32). Clinical and endocrine features with a long term follow-up.

Deletion of long arm of chromosome 1 (1q-) is a rare condition with malformations of many organs (central nervous system, heart, kidney, etc.). Authors describe a young girl characterised by 1q 25-32 deletion, with severe intra- and extrauterine growth retardation, facial dismorphisms, multiple organ malformations. The patient is followed for a long-term clinical and endocrine evaluation, with evidence of hypoplastic hypophysis and multiple endocrine deficiency.

Abnormalities, Multiple↗
PubMed2001

Multiple pituitary hormone deficiency: management of puberty for optimal auxological results.

The overview in this paper focuses on ways of achieving optimal auxological results in puberty, principally in idiopathic and congenital multiple pituitary hormone deficiency (MPHD), suggested by the co-authors. We agreed that diagnosing gonadotrophin insufficiency/deficiency is difficult in young children and should be repeated in late prepuberty, but a firm diagnosis of MPHD helps avoid endocrine re-testing at the end of growth. The hypothalamic-pituitary axis must be reassessed periodically in evolving endocrinopathies, though current practice varies widely. Optimum age to induce puberty is 11-12 years in girls and 13-14 boys, and sex steroids are the preferred agents. Short-course testosterone to increase micropenis size is advantageous, but inducing early testicular maturation is not known to improve later fertility. There is also little evidence for increasing the dose of GH during puberty, though therapy should continue to final height, and possibly until peak bone mass is achieved. Delaying puberty is an option in septo-optic dysplasia, and minimising the dose of hydrocortisone is crucial in treating ACTH/cortisol insufficiency. Many unresolved questions remain in this difficult area.

Adolescent↗
PubMed1999

Sequential contrast-enhanced magnetic resonance imaging in the diagnosis of growth hormone deficiencies.

The purpose of the present study was to assess the presence and the time-course of contrast-enhancement in the pituitary gland and pituitary stalk of 24 patients with isolated growth hormone (GH) deficiency and multiple pituitary hormone deficiency. The patients were evaluated clinically (auxological measurements), endocrinologically (spontaneous GH secretion and GH stimulation tests) and with conventional MRI scans. In addition, fast-framing dynamic magnetic resonance imaging (MRI) with Gd-DTPA enhancement was used to quantitate the time course of contrast enhancement within the neurohypophysis, pituitary stalk, postero-superior adenohypophysis and antero-inferior adenohypophysis. In 3 patients without evidence of abnormalities at normal conventional MRI scans (normal anterior lobe and pituitary stalk, normal posterior lobe) and a high response to the GRF provocation test, sequential time-resolved Gd-enhanced MRI demonstrates reduced contrast enhancement in the pituitary stalk. These findings are consistent with impairment in stalk vasculature, presumably located at the level of the portal venous system, and could play a role in the pathogenesis of pituitary hormonal deficiency.

Child↗
PubMed1998

[Pattern of spontaneous and post-stimulation FSH and LH in male adolescents with thalassemia].

BACKGROUND: In the last years thalassemic patients gained a good improvement in prognosis and life style. However, short stature and hypogonadism are still frequent endocrine problems in this population. METHODS: In a group of eleven thalassemic males (14-18 years old), the spontaneous nocturnal endocrine patterns of LH and FSH and plasma gonadotropins in response to GnRH were studied. The profiles were analyzed using a computer program (PULSAR) to determine the secretion pattern (number and amplitude of peaks) and the area under the curve above the secretion baseline (AUC). The endocrine status was compared with liver fibrosis, iron overload and transfusional regimen. RESULTS: A regular and homogeneous transfusion and chelation management often does not prevent pubertal failure; it is related with the degree of liver fibrosis and often it is due to hypothalamic and/or pituitary dysfunction. CONCLUSIONS: Spontaneous gonadotropin profiles can be useful to evaluate hypogonadotropic hypogonadism in order to start the correct treatment.

Adolescent↗
PubMed1997

Biochemical selection of prepubertal patients with androgen insensitivity syndrome by sex hormone-binding globulin response to the human chorionic gonadotropin test.

Before puberty, the diagnosis of androgen insensitivity syndrome (AIS) can be difficult. We studied whether the decrease of sex hormone-binding globulin (SHBG) during the human chorionic gonadotropin (hCG) test may represent a biochemical test to select prepubertal patients with AIS. We examined prepubertal patients with AIS (n = 9, age 0.9-8.2 y), male pseudohermaphroditism not due to AIS (other-MPH) (n = 8, age 0.6-10.7 y), and control boys (n = 12, age 0.8-12.5 y). Testosterone and SHBG levels (mean +/- SD) were measured before (d 0) and after (d 5) a hCG test (1500 IU X 3 d). Testosterone levels (nmol/L) increased in all groups [AIS: from 1.5 +/- 1.2 to 22.1 +/- 11.8 (p < 0.001); other-MPH: from 0.6 +/- 0.6 to 9.2 +/- 7.4 (p < 0.02); controls: from 1.8 +/- 1.4 to 22.8 +/- 14.4 (p < 0.001)]. SHBG concentrations (nmol/L) did not change in AIS [from 66.2 +/- 15.1 to 67.5 +/- 18.6 (p = NS), delta-variation 1.7 +/- 12.7%], whereas they were significantly decreased in other-MPH [from 59.9 +/- 14.2 to 46.5 +/- 18.6 (p < 0.005), delta-variation -23.7 +/- 19.6%] and controls [from 63.0 +/- 16.9 to 33.7 +/- 14.6 (p < 0.003), delta-variation -46.9 +/- 15.2%]. Our data suggest that the SHBG changes during the hCG test can be used to assess in vivo the biologic response to androgens in prepubertal patients with ambiguous genitalia, selecting those patients in whom it is worth performing second level investigations to confirm the AIS diagnosis.

Androgens↗
PubMed1996

[Pulmonary hypertension caused by a severe scoliosis. Description of a case].

BACKGROUND: Pulmonary hypertension in childhood is uncommon. It can be idiopathic or secondary to other pathologies (cardiovascular, skeletric,...). CASE DESCRIPTION: We report on a 9 year old girl suffering from pulmonary hypertension due to severe dorso-lumbar scoliosis. CONCLUSIONS: We discuss the etiopathogenetic relationship between scoliosis and pulmonary hypertension, with particular reference to the role of the treatment with Milwaukee's corset in the evolution of the disease.

Female↗
PubMed1995

Plasma levels of lipoproteins and apolipoproteins in congenital hypothyroidism: effects of L-thyroxine substitution therapy.

Thyroid status in humans is an important factor in the regulation of lipoprotein metabolism. There are several data on hypothyroidism in the adult population, but less information is available about congenital hypothyroidism. Since lipid metabolism at birth is substantially different from that of adults, it is not likely that the same abnormalities that occur in adult hypothyroidism are also present when this is diagnosed at early life. We studied 16 subjects with congenital hypothyroidism, seven at the time of diagnosis and also after normalization of thyroid hormone levels over a period of 2.0 +/- 1.0 months of substitution therapy with L-thyroxine (5.9 +/- 1.2 micrograms/kg/d) and nine already on L-thyroxine therapy for a period of 4.7 +/- 3.2 months. Thirty-nine apparently healthy subjects matched for age were selected as controls. In all subjects, total cholesterol (CHO), triglycerides (TG), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol (HDL-C), apolipoproteins (apo) A-I and B, lipoprotein(a) [Lp(a)] thyrotropin (TSH), (LDL-C), total and free thyroxine (T4), and triiodothyronine (T3) were determined. CHO, HDL-C, and apo A-I levels were significantly higher in patients at the time of diagnosis than in controls (respectively, P = .0079, .0007, and .0004), whereas TG, LDL-C, apo B, and Lp(a) levels were not significantly different. During L-thyroxine substitution therapy in these subjects, HDL-C and apo A-I levels significantly decreased (respectively, by a mean of -36.2% and -24.4%), with similar behavior in all subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Apolipoprotein A-I↗
PubMed1995

[Congenital adrenal hypoplasia and hearing loss. A case report].

We report on the diagnostics, the therapeutics and the follow-up (to 3 years and 5 months) of a newborn affected by X-linked congenital adrenal hypoplasia. After the beginning of substitute hormonal therapy, the patient underwent periodical clinical examinations, with particular attention to the growth, and laboratory tests, which monitored the hormonal pattern. This experience points out the diagnostic role of low maternal levels of urinary estriol during pregnancy and the importance of a prolonged follow-up, so as to discover associated pathologies as early as possible. In our case, in fact, the study of auditory brainstem responses enabled us to recognize a mild transmission hearing loss at the early age of 8 months.

Adrenal Gland Diseases↗
PubMed1994

A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene.

The apo C-II gene from a patient with apo C-II deficiency has been sequenced after amplification by the polymerase chain reaction (PCR). The sequence analysis revealed a substitution of adenosine for cytosine at position 3,002 in exon 3, leading to the introduction of a premature stop codon (TAA) at a position corresponding to aminoacid 37 of mature apo C-II. This mutation creates a new Rsa I restriction enzyme site in the apo C-II gene. Amplification of DNA from family members by PCR and digestion with Rsa I established that the patient is a true homozygote for this mutation. The same nucleotide has been substituted for the mutation apo C-IIPadova and apo C-IIBari previously described in two kindreds from Italy. From these data we speculate that base pair 3,002 in the apo C-II gene may represent a hot spot for mutation.

Apolipoprotein C-II↗
PubMed1986

Long term results of high selective vagotomy: a 12-year experience.

The long term results (6 to 12 years) of high selective vagotomy are reported. The study includes 470 patients operated electively for uncomplicated duodenal ulcer. The indications for surgery were: persistence of ulcer after medical treatment; recurrent ulcer after repeated treatments with antacids and/or H2 blockers; noncompliance of the patients with the medical treatment for various reasons. The procedure was performed following the technique described by Goligher with minor modifications. Subsequently, a personal technique of intraoperative transesophageal gastric pHmetry was applied for the control of the completeness of vagotomy. The clinical results were classified according to Visick grading. It is concluded that the absence of mortality, the negligible postoperative morbidity, the clinical and functional results make high selective vagotomy the best treatment for uncomplicated duodenal ulcer.

Duodenal Ulcer↗