23 Result(s)
within
Pietro Maffei
English
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Article
Open AccessThe Italian registry for patients with Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease pa...
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Open AccessPsychological complications in patients with acromegaly: relationships with sex, arthropathy, and quality of life
Current treatment of acromegaly restores a normal life expectancy in most cases. So, the study of persistent complications affecting patients’ quality of life (QoL) is of paramount importance, especially motor...
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Patient-reported outcomes in patients with acromegaly treated with pegvisomant in the ACROSTUDY extension: A real-world experience
To report the effects of pegvisomant (PEGV) treatment on patient-reported outcomes in acromegaly patients.
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Open AccessThe role of the dentist and orthodontist in recognizing oro-facial manifestations of acromegaly: a questionnaire-based study
Oro-facial manifestations of acromegaly are among the earliest signs of the disease and are reported by a significant number of patients at diagnosis. Despite this high prevalence of acromegaly oral manifestat...
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Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and enc...
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Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
Wolfram Syndrome is a very rare genetic disease causing diabetes mellitus, blindness, deafness, diabetes insipidus, and progressive brainstem degeneration. Neurologic symptoms of affected patients include atax...
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Multidisciplinary management of acromegaly: A consensus
The 13th Acromegaly Consensus Conference was held in November 2019 in Fort Lauderdale, Florida, and comprised acromegaly experts including endocrinologists and neurosurgeons who considered optimal approaches f...
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Open AccessConsensus clinical management guidelines for Alström syndrome
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char...
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Regulation of energy intake and mechanisms of metabolic adaptation or maladaptation after caloric restriction
Despite their critical role in susceptibility to metabolic diseases such as obesity and type 2 diabetes, mechanisms regulating energy balance are extremely complex and far from being fully understood. Both cen...
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Preclinical markers of atherosclerosis in acromegaly: a systematic review and meta-analysis
Multiple studies investigated preclinical markers of peripheral vascular damage in acromegaly (ACRO) reporting discordant results. The aim of this study was to run a meta-analysis to examine whether intima med...
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Hyperinsulinemia and obese phenotype differently influence blood pressure in young normotensive patients with polycystic ovary syndrome
To differentiate the impact of insulin levels/resistance per se from that of excess weight on blood pressure (BP) daily changes, we evaluated, using 24-h ambulatory blood pressure monitoring (ABPM), systolic ...
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Ovarian tumors secreting insulin
Combined ovarian germ cell and neuroendocrine tumors are rare. Only few cases of hyperinsulinism due to ovarian ectopic secretion have been hypothesized in the literature. An ovarian tumor was diagnosed in a 7...
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Insulin-like factor 3 plasma levels in acromegaly before and after somatostatin analog treatment
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Ambulatory blood pressure monitoring-derived short-term blood pressure variability is increased in Cushing’s syndrome
Cushing’s syndrome is associated with high cardiovascular morbility and mortality. Blood pressure (BP) variability within a 24-h period is increasingly recognized as an independent predictor of cardiovascular...
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Intracranial internal carotid artery changes in acromegaly: a quantitative magnetic resonance angiography study
Although cerebrovascular mortality is increased up to eightfold in acromegaly, intracranial internal carotid artery (ICA) changes have not been well investigated. This is a magnetic resonance angiography (MRA)...
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Open AccessSyndromic obesity: clinical implications of a correct diagnosis
Although individual occurrence is rare, syndromic obesity with mental retardation has been reported in conjunction with 140 different diseases.
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Open AccessEURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlap** features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion...
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Herniation of cerebellar tonsils in acromegaly: prevalence, pathogenesis and clinical impact
Herniation of cerebellar tonsils (CTH) might occur in acromegaly patients and improve after acromegaly treatment. Our study investigated CTH prevalence in acromegaly, its relationship with clinical, laboratory...
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Open AccessBrain involvement in Alström syndrome
Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neuro...
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Coronary microvascular function in patients with Cushing’s syndrome
The aim of the study was to evaluate patients with Cushing’s syndrome the coronary flow reserve (CFR), an index of coronary microvascular function. Fifteen newly diagnosed patients with Cushing’s syndrome (1 ...
