Abstract:
BACKGROUND:Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive genetic disease due to mutations in the AIRE (AutoImmune REgulator) gene. The clinical diagnosis is classically based on the presence of at least two of the three main components: chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Patients often suffer from other endocrine or non-endocrine autoimmune conditions throughout life. APECED etiopathogenesis is mediated by T lymphocytes. Autoantibodies against proteins of the affected organs are found in the serum of APECED patients as well as neutralizing antibodies against cytokines. We report here the clinical and genetic characteristics of 45 Indian APECED patients in comparison to Finnish, Sardinian, Turkish and North/South American cohorts from their published results. We also report a new case of APECED of Indian origin, a 2-year old child suffering from chronic mucocutaneous candidiasis since the age of 8 months, with confirmatory AIRE homozygous mutation c.274C > T (p.R92W). CONCLUSION:With the inherent limitations of a retrospective study, analysis of Indian APECED patients suggested that compared to classic criteria, application of Ferre/Lionakis criteria validated in North/South American patients could help in earlier diagnosis in 3 of 8 (37.5%) patients for whom adequate information for evaluation was available.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Fierabracci A,Arena A,Toto F,Gallo N,Puel A,Migaud M,Kumar M,Chengappa KG,Gulati R,Negi VS,Betterle Cdoi
10.1007/s40618-020-01376-5subject
Has Abstractpub_date
2020-08-07 00:00:00eissn
0391-4097issn
1720-8386pii
10.1007/s40618-020-01376-5pub_type
杂志文章,评审abstract:BACKGROUND:The aim of the current study was to evaluate the association of osteoprotegerin and vascular endothelial growth factor (VEGF) with glycemic indices and diabetes status. METHODS:A total of 44 normoalbuminuric Type 1 diabetic patients and 44 healthy control subjects, matched for age, body mass index, sex rati...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347110
更新日期:2013-07-01 00:00:00
abstract::We report the case of a 17-year-old girl presenting short stature (height 149 cm, below the 3rd percentile), obesity (weight 83.5 kg, body mass index 37 kg/m2) and secondary amenorrhea, in whom endocrinological evaluation disclosed an absolute lack of GH responsiveness to both suprapituitary challenges and repetitive ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347844
更新日期:1995-05-01 00:00:00
abstract::A rapid routine method of determining estrogens in non-pregnancy urine is described. It involves the following steps: 1) Dilution of each urine sample with an equal volume of saturated ammonium sulfate solution; 2) Addition of Sephadex G-15 beads; 3) Filtration of the mixture; 4) Liberation of the estrogens from the S...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350365
更新日期:1978-04-01 00:00:00
abstract::No long-term data are available on the efficacy of glargine insulin in comparison with continuous sc insulin infusion (CSII) in children and adolescents affected by Type 1 diabetes (T1D). Our aim was to compare the 2-yr efficacy of the 2 insulin approaches, in order to know how to best supply basal insulin in these pa...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346351
更新日期:2007-07-01 00:00:00
abstract:OBJECTIVE:We aimed to investigate the differences in emotional and behavioral problems and to explore the association between the level of psychiatric problems and the metabolic control in Type 1 diabetes. METHODS:The children with Type 1 diabetes (no.=42) and the "healthy" control group (no.=42), their parents and en...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345721
更新日期:2009-04-01 00:00:00
abstract::A 41-year-old male with primary hypothyroidism and a huge TSH-secreting pituitary tumor presented with a bleeding nasal mass that was initially misdiagnosed as a paraganglioma. Other unique features of the case include lack of complaints related to hypothyroidism, an extremely elevated TSH level of 3474 mU/l, and a lo...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343584
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND AND AIM:Evidences suggest that androgen deficiency is associated with sudden cardiac death (SCD). Our purpose was to analyse some electrocardiographic (ECG) markers of repolarization phase in hypogonadal patients either at baseline or after testosterone replacement therapy (TRT). PATIENTS AND METHODS:Baseli...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01026-5
更新日期:2019-09-01 00:00:00
abstract::The effect of right- and left-sided intra-amygdaloid injection of kainic acid on the hypothalamo-hypophyseal-testicular axis was studied in rats. Both right- and left-sided injection of the neurotoxin into the amygdala resulted in a significant decrease in basal testosterone secretion in vitro of both testes and in se...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345198
更新日期:2003-05-01 00:00:00
abstract::The 1865 volume of the "II Morgagni", one of the most important Italian medical journals of the 19th century, presented two important articles, milestones for further scientific studies in the field of sexual differentiation. One was the original description of the "ramified cells" of testicular tubules by E. Sertoli,...
journal_title:Journal of endocrinological investigation
pub_type: 历史文章,杂志文章
doi:10.1007/BF03345329
更新日期:2005-11-01 00:00:00
abstract::Subclinical hypothyroidism (SH) is a common clinical problem, particularly in adulthood and the elderly. Its prevalence is conditioned by several etiological and risk factors. The highest age- and sex-specific rates are in women over 60. SH may be associated with manifestations of mild thyroid failure, which may rever...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03345571
更新日期:2008-01-01 00:00:00
abstract::The present study investigated whether trophoblast, decidua and fetal membranes express nerve growth factor (NGF) mRNA and peptide. Tissue specimens were collected in the first and third trimester of pregnancy from women undergoing voluntary pregnancy interruption (no.= 6; from 8 to 12 gestational weeks) and from wome...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03344105
更新日期:2006-04-01 00:00:00
abstract:OBJECTIVE:Graves' orbitopathy (GO) is an inflammatory orbital disease of autoimmune origin with the potential to cause severe functional and psychosocial effects. The pathogenesis has not been fully elucidated. We investigated whether DNA methylation was associated with GO incidence in Chinese patients. MATERIALS AND ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0796-6
更新日期:2018-06-01 00:00:00
abstract::Apparent mineralocorticoid excess (AME) is a syndrome attributable to congenital deficiency of the enzyme 11 beta-dehydrogenase (11 beta-OHSD) which converts active glucocorticoid cortisol to inactive cortisone. When 11 beta-OHSD activity is impaired, cortisol acts as a potent mineralocorticoid and causes hypertension...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03349763
更新日期:1995-07-01 00:00:00
abstract::We evaluated the oral calcium-loading test (OCLT) in diagnosing normocalcemic primary hyperparathyroidism. Calcium and PTH levels were measured before, 60, 120 and 180 min after oral 1 g of calcium gluconolactate administration in 102 consecutive females with high circulating PTH levels, and 25 controls. Patients were...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03345180
更新日期:2003-04-01 00:00:00
abstract::This study, carried out on 9 nonfunctioning pituitary adenomas, was undertaken in order to evaluate the ability of these tumors to synthesize and release gonadotropins and/or free alpha-subunit (alpha-SU) of glycoproteins. The morphological study included electron microscopy and immunofluorescence analysis while hormo...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347659
更新日期:1993-02-01 00:00:00
abstract::Homocysteine (HCY) is a sulfur-containing amino acid involved in two metabolic pathways, catalized by cystathionine-B-synthase and methionine synthase, depending on vitamin (vit) B6, B12, and folate levels and enzymatic activity of methylenetetrahydrofolate. High HCY levels (HHCY) are associated with cardiovascular (C...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2009-01-01 00:00:00
abstract::Basal IGF-I levels and the GH response to at least two among provocative stimuli such as clonidine (CLO, Catapresan, 150 mcg/m2 p.o.), GHRH (1 mcg/kg i.v.)+arginine (ARG, 0.5 g/kg i.v. infusion during 30 min) and GHRH+pyridostigmine (PD, Mestinon cpr 60 mg p.o.) have been evaluated in 43 children with Prader-Willi syn...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03343684
更新日期:2000-02-01 00:00:00
abstract:OBJECTIVE:We designed a single-center retrospective study to assess the QT interval duration and to describe cardio vascular events among patients treated with mitotane for a adrenocortical carcinoma (ACC). DESIGN:We selected 14 patients (6 males and 8 females) that met the following criteria: ACC treated with mitotan...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.3275/8616
更新日期:2012-11-01 00:00:00
abstract::Reduced cardiac mass and performances are present in GH deficiency and are counteracted by rhGH replacement. GH and IGF-I possess specific myocardial receptors and have been reported able to exert an acute inotropic effect. Synthetic GH secretagogues (GHS) possess specific pituitary and hypothalamic but even myocardia...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF03343555
更新日期:1999-04-01 00:00:00
abstract::The intravenous injection of calcium gluconate (0.11 mM/kg body weight) into conscious thyroidectomized pigs elicits a 30% rise in both ionized and total calcium concentrations of plasma, which return to basal levels within 180 min. The administration of calcitonin (2.5-10 MRC U/kg body weight) reduces this time to 30...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350579
更新日期:1983-04-01 00:00:00
abstract:BACKGROUND:Vitamin D exerts pleiotropic effects and few studies are available in the Italian population. AIM:Aim of our study was to evaluate vitamin D status in children living in Northern Italy. METHODS:We studied vitamin D levels in a population of 113 normal weight (NW) and 444 obese (OB) children, prepubertal an...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0108-3
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:Elevated γ-glutamyl transpeptidase (GGT) and alanine aminotransferase (ALT) could predict the risk of Type 2 diabetes (T2D), but the reason for their elevation was unclear. GGT and ALT mediated the metabolism of many amino acids (AA). Up to now, it was not investigated whether abnormal AA concentration was a...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/8059
更新日期:2012-09-01 00:00:00
abstract::Silver-Russell syndrome (SRS) is both clinically and genetically a heterogeneous congenital disorder. Patients are characterised by severe intrauterine and post-natal growth retardation, dysmorphic facial features and, asymmetry. Various chromosome abnormalities have been associated with the disease, involving most of...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2006-01-01 00:00:00
abstract::The recent development of new medications for the treatment of the sexual dysfunction increased the possibility of improving the altered sexual performance. Although initially designed for the treatment of male sexual dysfunction, erectile dysfunction in particular, these substances have now been tested for the therap...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2003-01-01 00:00:00
abstract::Established methods for definitive ablation of autonomous thyroid nodules are surgery and radioiodine. Since it has been demonstrated that percutaneous ethanol injection can inactivate parathyroid adenomas and small hepatocellular carcinomas, we started a trial of this treatment in patients with autonomous thyroid nod...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348753
更新日期:1992-05-01 00:00:00
abstract::Peroxisome proliferator activated receptor (PPAR)gamma plays a pivotal role in regulating adipocyte differentiation and metabolism, but also has an antiproliferative effect in several tissues, including colonic mucosa, where it is highly expressed. Loss-of-function mutations have been reported in about 10% of sporadic...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345249
更新日期:2003-11-01 00:00:00
abstract:OBJECTIVE:The Merseburg triad (hyperthyroidism, goiter, and orbitopathy) characterizes classical description of Graves' disease (GD). Aim of this observational, longitudinal study was to evaluate the current clinical features of newly diagnosed GD in Italy. MATERIALS AND METHODS:In two Northern Italy centers (Varese a...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-016-0516-7
更新日期:2016-12-01 00:00:00
abstract::In addition to growth hormone (GH), sex hormones are important determinants of body composition. Aging is accompanied by a decrease in free testosterone levels and, as BMI as well as fat mass increase with age (with a redistribution of body fat), whereas muscle mass decreases, it is tempting to attribute a causal role...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:1999-01-01 00:00:00
abstract::The aim of the study was to examine the effects of strenuous training on the hypothalamic- pituitary-adrenal axis activity. Exercise tests and saliva collections for analysis of awakening cortisol response (ACR) and midnight cortisol were performed before and after a 7-day period of intensified training in a group of ...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03345561
更新日期:2008-01-01 00:00:00
abstract:PURPOSE:The aim of this study was to investigate the possible association of insulin-like growth factor-1 (IGF-1) with the pathogenesis of non-functioning adrenocortical adenomas (NFAs). METHODS:This study included 50 female patients (mean age 54 years) with NFAs, 55 patients (mean age 48 years; 20 male, 35 female) wi...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-018-0869-1
更新日期:2018-11-01 00:00:00