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1.
J Endocrinol Invest ; 47(7): 1691-1700, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38526837

ABSTRACT

PURPOSE: Patients with beta-thalassemia major (BTM) often develop several endocrine disorders due to chronic iron overload. They are also prone to osteoporosis and vertebral fractures. Plasmatic insulin-like growth factor-1 (IGF-1) levels are often low in subjects with BTM, which origin is multifactorial. The aim of this study was to evaluate a possible relationship between serum IGF-1 levels and the presence of osteoporosis and/or vertebral fractures. METHODS: We retrospectively evaluated the occurrence of vertebral fractures in 30 adult male patients affected by BTM (mean age 43.3 ± 7.9 years) with low serum IGF-1 (median value 52.4 ng/ml, 38.5-83.4). Only 6 of them (20.0%) were diagnosed with GH deficiency (GHD) after GHRH/arginine stimulation test, while 23 (76.7%) had osteoporosis and 12 (40.0%) had known vertebral fractures. All patients except one also showed at least one endocrine disorder. RESULTS: Serum IGF-1 was significantly lower in BTM patients with vertebral fractures compared to patients without vertebral fractures (U = 41.0, p = 0.005) while it was not significantly different between patients with low bone mass compared to patients without low bone mass. The diagnosis of GHD was significantly associated with lower serum IGF-1 (p = 0.001) and vertebral fractures (p = 0.002) but not with low bone mass. After ROC analysis, we found that very low IGF-1 (≤ 50.0 ng/dl) was associated with vertebral fractures (sensitivity 83.3%, specificity 75.0%) and was also predictive of GHD (sensitivity 75.0%, specificity 100.0%). CONCLUSION: Our study shows that, in male patients with BTM, serum IGF-1 ≤ 50.0 ng/dl is a marker of vertebral fractures and it is predictive of a diagnosis of GHD.


Subject(s)
Biomarkers , Insulin-Like Growth Factor I , Spinal Fractures , beta-Thalassemia , Humans , Male , Insulin-Like Growth Factor I/analysis , Insulin-Like Growth Factor I/metabolism , Adult , Spinal Fractures/blood , Spinal Fractures/epidemiology , Spinal Fractures/etiology , Spinal Fractures/diagnosis , Retrospective Studies , beta-Thalassemia/blood , beta-Thalassemia/complications , beta-Thalassemia/diagnosis , Biomarkers/blood , Osteoporosis/blood , Osteoporosis/etiology , Osteoporosis/diagnosis , Middle Aged , Prognosis
2.
J Endocrinol Invest ; 46(9): 1807-1814, 2023 Sep.
Article in English | MEDLINE | ID: mdl-36809658

ABSTRACT

PURPOSE: Poor response to bariatric surgery, namely insufficient weight loss (IWL) or weight regain (WR), is a critical issue in the treatment of obesity. The purpose of our study was to assess the efficacy, feasibility, and tolerability of very low-calorie ketogenic diet (VLCKD) for the management of this condition. METHODS: A real-life prospective study was conducted on twenty-two patients who experienced poor response after bariatric surgery and followed a structured VLCKD. Anthropometric parameters, body composition, muscular strength, biochemical analyses, and nutritional behavior questionnaires were evaluated. RESULTS: A significant weight loss (mean 14.1 ± 4.8%), mostly due to fat mass, was observed during VLCKD with the preservation of muscular strength. The weight loss obtained allowed patients with IWL to reach a body weight significantly lower than that obtained at the post-bariatric surgery nadir and to report the body weight of patients with WR at the nadir observed after surgery. The significantly beneficial changes in nutritional behaviors and metabolic profiles were observed without variations in kidney and liver function, vitamins, and iron status. The nutritional regimen was well tolerated, and no significant side effects were detected. CONCLUSION: Our data demonstrate the efficacy, feasibility, and tolerability of VLCKD in patients with poor response after bariatric surgery.


Subject(s)
Bariatric Surgery , Diet, Ketogenic , Humans , Prospective Studies , Feasibility Studies , Obesity/etiology , Weight Loss/physiology
3.
J Endocrinol Invest ; 39(7): 779-84, 2016 Jul.
Article in English | MEDLINE | ID: mdl-26928404

ABSTRACT

PURPOSE: Autoimmune polyendocrine syndromes (APS) type III are characterized by the association of autoimmune thyroid disease (ATD) with other autoimmune diseases such as diabetes, alopecia, pernicious anemia, vitiligo and chronic atrophic gastritis. A strong association between ATD and atrophic gastritis (AG) has been demonstrated. Moreover 10 % of patients affected by AG have a predisposition to develop gastric carcinoid and adenocarcinoma as a result of chronic hypergastrinemia caused by achlorhydria and subsequent ELC cells neoplastic transformation. METHODS: The aim of the study is to evaluate, in a consecutive series of patients followed for ATD in our outpatients clinic, the prevalence of AG. In the period 2004-2014, 242 patients with ATD underwent a screening performing APCA, Vitamin B12, ferritin, iron, and hemoglobin and red cells count measurements with subsequent gastroscopy in case of APCA positivity. RESULTS: We found 57/242 (23.5 %) patients with APCA positivity. Of these patients 33/57 (57.8 %), 31 F and 2 M, were affected by Graves disease; 24/57 (42.1 %) 21 F and 3 M by Hashimoto thyroiditis; 10/57 (17.5 %) presented with anemia, 14/57 (24.5 %) with vitamin B12 deficiency, 9/57 (15.7 %) with iron deficiency. In 2/57 a gastric carcinoid was found. CONCLUSIONS: Our data confirm the high association rate of AG in ATD which frequently is not an isolated disease but configure the picture of APS type III and need to be followed accordingly. An early diagnosis may be useful for diagnosis of gastric carcinoids and to explain and treat a gastric related L-thyroxine malabsorption and presence of chronic unexplained anemia.


Subject(s)
Autoimmune Diseases/complications , Carcinoid Tumor/etiology , Gastritis, Atrophic/etiology , Stomach Neoplasms/etiology , Thyroid Diseases/complications , Adolescent , Adult , Aged , Autoimmune Diseases/pathology , Carcinoid Tumor/diagnosis , Child , Chronic Disease , Female , Gastritis, Atrophic/diagnosis , Gastroscopy , Humans , Male , Middle Aged , Prognosis , Retrospective Studies , Stomach Neoplasms/diagnosis , Thyroid Diseases/pathology , Young Adult
4.
Diabet Med ; 27(6): 701-4, 2010 Jun.
Article in English | MEDLINE | ID: mdl-20546291

ABSTRACT

AIMS: We previously demonstrated the presence of two different populations among adult-onset autoimmune diabetes (latent autoimmume diabetes of adults; LADA) having high or low titre of antibodies to glutamic acid decarboxylase (GADA). The transcription factor 7-like 2 (TCF7L2) gene has been recognized as the major gene associated with Type 2 diabetes. The aim of the present study was to evaluate whether the phenotypic heterogeneity of LADA based on GADA titre is associated with TCF7L2 polymorphisms. METHODS: Two hundred and fifty patients identified as LADA, divided into two subgroups with low (< or = 32 arbitrary units) or high (> 32 units) GADA titre, 620 subjects with Type 2 diabetes [from the Non-Insulin Requiring Autoimmune Diabetes (NIRAD) study cohort of 5330 subjects] in addition to 551 consecutive cases of Type 1 diabetes and 545 normoglycaemic subjects were analysed for the rs12255372 and rs7903146 polymorphisms of the TCF7L2 gene using Taqman. RESULTS: The genotype and allele distributions of the two polymorphisms revealed similar frequencies in subjects with low GADA titre and Type 2 diabetes. High GADA titre, Type 1 diabetes and controls also showed comparable frequencies. A significant increase of GT/TT genotypes of the rs12255372 single-nucleotide polymorphism (SNP) and CT/TT genotypes of the rs7903146 SNP was observed in low GADA titre and Type 2 diabetes compared with high GADA titre, Type 1 diabetes and controls (P < or = 0.04 for both comparisons). The risk alleles of both variants were increased in low GADA titre and Type 2 diabetes compared with high GADA titre, Type 1 diabetes and control subjects (P < 0.02 for all comparisons). CONCLUSIONS: TCF7L2 common genetic variants of susceptibility are associated only with low GADA antibody titre in LADA patients.


Subject(s)
Diabetes Mellitus, Type 1/genetics , Diabetes Mellitus, Type 2/genetics , Glutamate Decarboxylase/genetics , Adult , Age of Onset , Autoantibodies/immunology , Case-Control Studies , Diabetes Mellitus, Type 1/immunology , Diabetes Mellitus, Type 2/immunology , Female , Genetic Predisposition to Disease , Glutamate Decarboxylase/immunology , Humans , Male , Middle Aged , Polymorphism, Genetic , Statistics as Topic , Transcription Factor 7-Like 2 Protein/genetics , Transcription Factor 7-Like 2 Protein/immunology
5.
J Endocrinol Invest ; 30(3): 259-62, 2007 Mar.
Article in English | MEDLINE | ID: mdl-17505163

ABSTRACT

Necrobiosis lipoidica (NL) is a degenerative disease of dermal connective tissue of unknown etiology characterized by erythematous plaques preferentially localized to distal extremities. Skin lesions show a chronic relapsing nature. NL is often associated with diabetes mellitus and satisfactory treatment options are lacking. We describe the spontaneous healing of NL lesions after pancreas and kidney transplantation in a Type 1 diabetic patient with chronic NL recalcitrant to a variety of standard treatments. The 31-yr-old male patient had experienced NL lesions for more than 15 yr; despite various systemic and topical treatments, the skin lesions had pregressively enlarged. Because of end-stage renal disease, a simultaneous pancreas and kidney transplantation was performed and immunosuppressive therapy with tacrolimus (TAC), mycophenolate mofetil (MMF), and prednisone was started. Pancreatic transplantation maintained satisfactory metabolic control with no need of exogenous insulin. After transplantation, skin lesions slowly healed without any specific treatment, leaving residual areas of fibrotic scars. A skin biopsy confirmed the absence of typical NL lymphocytic and histiocytic inflammatory response. Clinical remission of NL lesions may probably be explained by the concomitant effect of multiple-drug regimen for immunosuppression (TAC, MMF, and prednisone) and improved skin microcirculation secondary to the good metabolic control provided by pancreas transplantation.


Subject(s)
Diabetes Mellitus, Type 1/surgery , Kidney Transplantation , Necrobiosis Lipoidica/surgery , Pancreas Transplantation , Wound Healing , Adult , Chronic Disease , Diabetes Mellitus, Type 1/pathology , Humans , Male , Necrobiosis Lipoidica/pathology
6.
J Endocrinol Invest ; 25(5): 414-9, 2002 May.
Article in English | MEDLINE | ID: mdl-12035936

ABSTRACT

The aim of this report was to evaluate the incidence of Type 1 diabetes mellitus (T1DM) in the district of Catania (eastern Sicily) in children under 15 yr of age over a ten-yr period (01/01/1989 - 31/12/1998) in relation to age, sex, monthly-seasonal variability, calendar yr and spatial clustering. The estimated completeness of our register was 99.2%. The overall incidence rate was 12.38 per 100,000 during the period of the study. Twenty-four percent of cases were 0-4 yr at diagnosis, 42% were 5-9 yr and 34% were 10-14 yr. More males (no. 148) than females (no. 125) were newly diagnosed with a male/female ratio similar to the base population ratio in the range 0-14 yr and within age groups. The study revealed a non-random spatial distribution of T1DM incidence in children not accounted for by known demographic factors. A significant seasonal pattern and temporal trend of incidence were also detected.


Subject(s)
Diabetes Mellitus, Type 1/epidemiology , Adolescent , Age Distribution , Child , Child, Preschool , Cluster Analysis , Female , Humans , Incidence , Infant , Infant, Newborn , Male , Prospective Studies , Seasons , Sex Distribution , Sicily/epidemiology
8.
Acta Diabetol ; 31(1): 37-9, 1994 Apr.
Article in English | MEDLINE | ID: mdl-8043895

ABSTRACT

The incidence of type I (insulin-dependent) diabetes was determined in the district of Catania (eastern Sicily) in children under 15 years of age over a 3-year period (1 January 1989 to 31 December 1991). Two independent sources of information were used. The primary source was contact with all medical services in the province, and the secondary source was the personal identification cards issued to all diabetic patients by the National Health System necessary for obtaining free medical care. The information obtained was 99.6% complete. The overall incidence was 10.2/10(5) per year. This study provides the first standardized data on the incidence of type I diabetes in Sicily and is consistent with the possibility of regional deviations from the proposed north to south gradient.


Subject(s)
Diabetes Mellitus, Type 1/epidemiology , Adolescent , Child , Child, Preschool , Female , Humans , Incidence , Infant , Male , Sicily/epidemiology
9.
Fertil Steril ; 55(3): 637-9, 1991 Mar.
Article in English | MEDLINE | ID: mdl-1900487

ABSTRACT

Unexpectedly high LH and FSH serum levels, measured by conventional RIA methods employing a rabbit antibody, were observed in eight women 18 to 34 years of age who came to our observation for acne and/or hirsutism and with no sign of premature ovarian failure. Reinvestigation of patient histories revealed that all of them had previously received multiple injections of a multimicrobial vaccine containing rabbit proteins. Luteinizing hormone and FSH were remeasured by IRMA and ELISA. These techniques revealed that serum levels of both gonadotropins were within the normal range in all subjects. We believe that falsely elevated gonadotropin levels were induced by the presence of heterophilic antibodies against rabbit serum interfering in the conventional RIA.


Subject(s)
Antibodies, Heterophile/immunology , Bacterial Vaccines/adverse effects , Follicle Stimulating Hormone/blood , Luteinizing Hormone/blood , Radioimmunoassay , Adolescent , Adult , Cross Reactions , Enzyme-Linked Immunosorbent Assay , Female , Humans , Immunoradiometric Assay , Thyrotropin/blood
10.
Acta Eur Fertil ; 19(5): 283-6, 1988.
Article in English | MEDLINE | ID: mdl-3150888

ABSTRACT

Ovulation induction with human gonadotropins (hMG or pFSH and hCG) was simultaneously monitored with daily serum 17 beta-estradiol measurements and ultrasound in 38 infertile women. They were subgrouped as follows: A, hypogonadotropic hypogonadism (n. 7); B, polycystic ovary syndrome (n. 13); C, non-PCO chronic anovulation (n. 6); D, unexplained infertility (n. 12). The dose of hMG and the duration of therapy were assessed individually depending on the results of the monitoring when serum estradiol concentration was 500-1500 pg/ml and/or ultrasound showed of a follicle of at least 18 mm, hMG was stopped and hCG was administered 36 hours later. Ovulation was obtained in 61 cases and pregnancy occurred in 12 women out of 64 monitored cycles. The highest pregnancy rate was observed in hypogonadotropic hypogonadism; this group also required the greatest total dose of hMG to obtain ovulation. We confirm that women with PCOS are at increased risk with this therapy, since 5 subjects in our series showed signs of ovarian hyperstimulation in spite of the lowest total dose of FSH administered to this group. We conclude that anovulatory states of various origin are associated with different ovarian sensitivity.


Subject(s)
Anovulation/blood , Chorionic Gonadotropin/pharmacology , Estradiol/blood , Follicle Stimulating Hormone/pharmacology , Infertility, Female/blood , Menotropins/pharmacology , Ovulation/drug effects , Adult , Anovulation/physiopathology , Female , Humans , Infertility, Female/physiopathology , Ovulation Detection , Ultrasonics
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