Publications by authors named "Ferruccio Santini"

Introduction: Graves' Orbitopathy (GO) is an autoimmune disorder characterized by inflammation of orbital tissues, leading to various ocular manifestations, including ocular surface disease. This cross-sectional study aimed to assess the presence of ocular surface disease using the Ocular Surface Disease Index (OSDI) in patients with Graves' disease (GD) and moderate-to-severe active GO compared to those with GD and mild non-active GO. Additionally, we aimed to investigate the correlation between ocular surface disease and the eye features of GO.

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  • The study explores the genetic and epigenetic factors involved in the development of Graves' orbitopathy (GO), highlighting that both sex and racial differences indicate a genetic influence on the disease.* -
  • Research shows that while no specific genes have been linked to an increased risk of GO, variations in gene expression and DNA methylation patterns observed in orbital fibroblasts suggest an epigenetic component in its pathogenesis.* -
  • The findings suggest that initial autoimmune triggers may lead to long-lasting changes in gene expression, contributing to the persistence and development of GO, although further examination of histone modifications is needed.*
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  • Sirolimus was found to help people with Graves' orbitopathy (a condition that affects the eyes) more than another medicine called methylprednisolone at the 24-week mark.
  • In the study, 40 patients were treated, and researchers looked at how they felt and their eye symptoms over 48 weeks.
  • While sirolimus showed better results at 24 weeks, both medicines had similar outcomes at 48 weeks, suggesting that longer treatment might be needed for better results.
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  • Patients with severe obesity often experience psychiatric symptoms, which can influence their weight loss journey, especially after bariatric surgery.
  • A study of 99 patients evaluated the link between negative emotional dysregulation (NED) and the effectiveness of weight loss following surgery, using various psychological assessment tools.
  • Results showed that patients with NED (NED+) had a higher rate of inadequate weight loss one year post-surgery compared to those without NED (NED-), indicating a significant connection between emotional dysregulation and weight loss outcomes.
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Purpose: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition characterized by inattention, hyperactivity, and impulsivity. A positive association between ADHD and obesity has been observed, especially in adult samples. In this study, prevalence and correlates of self-reported symptoms indicative of a positive screening for ADHD were examined in patients seeking bariatric treatment.

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  • Lipodystrophy syndromes are rare and often misdiagnosed diseases that can lead to serious metabolic issues and organ damage if not detected early.
  • The Rapid Action Plan was created through expert consultations to provide guidelines for clinicians who may not have much experience with these conditions.
  • The plan includes tools for diagnosis, discusses the importance of history and tests, and offers recommendations for screening, monitoring, and treatment to help improve patient outcomes.
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Background: In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter.

Case Presentation: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate.

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Lipodystrophies (LDs) are rare, complex disorders of the adipose tissue characterized by selective fat loss, altered adipokine profile and metabolic impairment. Sirtuins (SIRTs) are class III NAD-dependent histone deacetylases linked to fat metabolism. SIRT1 plays a critical role in metabolic health by deacetylating target proteins in tissue types including liver, muscle, and adipose.

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Purpose: Bariatric surgery (BS), an effective treatment for severe obesity and its comorbidities, may result in micronutrient and vitamin deficiencies. This monocentric prospective observational study aimed at evaluating the efficacy of a specifically designed vitamin/mineral formula (Bariatrifast, BIOITALIA S.r.

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Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed.

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  • Barraquer-Simons syndrome (BSS) is a rare acquired lipodystrophy leading to significant loss of upper body fat, particularly affecting the face and arms, with a possible autoimmune origin.
  • This study evaluated clinical and immunological data from 26 BSS patients to refine diagnostic tools and identify potential triggers or genetic links.
  • Key findings revealed most patients experienced fat loss in childhood, with a notable prevalence of autoimmune markers and metabolic conditions, suggesting BSS is commonly connected to other autoimmune diseases.
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Purpose: SARS-CoV-2 infection may be limited to the respiratory tract or may spread to multiple organs. Besides disease severity, factors associated with virus spread within the host are elusive. Here, we tried to identify features associated with SARS-CoV-2 spread to endocrine organs.

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Bariatric surgery is associated with a postoperative reduction of 25(OH) vitamin D levels (25(OH)D) and with skeletal complications. Currently, guidelines for 25(OH)D assessment and vitamin D supplementation in bariatric patients, pre- and post-surgery, are still lacking. The aim of this work is to analyse systematically the published experience on 25(OH)D status and vitamin D supplementation, pre- and post-surgery, and to propose, on this basis, recommendations for management.

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Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor () gene. It encodes for a cytoplasmatic protein called caveolae-associated protein 1 (Cavin-1), which, together with caveolin 1, is responsible for the biogenesis of caveolae, being a master regulator of adipose tissue expandability.

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  • * Researchers used specific assays to measure cell membrane oxidation and DNA damage in lymphocytes of obese patients and normal-weight controls, finding increased oxidative damage in obese patients before surgery.
  • * Post-bariatric surgery follow-up showed improvements in oxidative damage and reduced DNA double strand breaks in obese patients, stressing the importance of monitoring these markers after surgery.
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Context: Glomerular hyperfiltration may represent a direct pathogenetic link between obesity and kidney disease. The most widely used methods to estimate creatine clearance such as Cockroft-Gault (CG), Modification of Diet in Renal Disease (MDRD), and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) have not been validated in subjects with obesity.

Objective: The performance of prediction formulas was compared with measured creatinine clearance (mCrCl) in subjects with obesity.

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Sodium glucose cotransporter 2 inhibitors have proven strong efficacy in reducing end-stage renal disease in patients with type 2 diabetes. We are presenting here the case of a 40-year-old woman with acquired partial lipodystrophy, type 2 diabetes and essential hypertension complicated by chronic kidney disease and proteinuria in the nephrotic range. She first came to our attention in 2012; estimated glomerular filtration rate (eGFR) was 41.

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  • The study aims to understand how psychiatric disorders, ADHD symptoms, and emotional dysregulation affect weight loss after bariatric surgery in obese patients.
  • Conducted at the Obesity Center of Pisa University Hospital, the research involved 99 participants, with follow-up evaluations focusing on psychiatric diagnoses, ADHD symptoms, and emotional regulation.
  • Results indicate that individuals with insufficient weight loss post-surgery had higher rates of binge eating disorder and emotional dysregulation, while factors like older age and higher pre-surgery BMI were linked to poorer weight loss outcomes.
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Context: Prognosis is excellent for papillary thyroid carcinoma (PTC), noninvasive follicular thyroid neoplasia with papillary-like nuclear features (NIFT-P), and follicular thyroid carcinoma (FTC) but is poor for poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC). Among PTCs, the prognosis is more favorable for follicular (FV-PTC) and classic (CV-PTC) than for tall cell (TCV-PTC), and solid (SV-PTC) variants.

Objective: To associate histotypes and variants of thyroid carcinoma with ultrasound and cytological features.

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Altered circulating hormone and metabolite levels have been reported during and post-COVID-19. Yet, studies of gene expression at the tissue level capable of identifying the causes of endocrine dysfunctions are lacking. Transcript levels of endocrine-specific genes were analyzed in five endocrine organs of lethal COVID-19 cases.

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Background: The massive vaccination campaign against COVID-19 has granted a high level of protection against the severe forms of the disease at the price of some mild adverse events.

Objective: To underline that COVID-19 vaccination can induce a transient enlargement of lymph-node metastases in differentiated thyroid cancer patients.

Case Presentation: We describe the clinical, laboratory, and imaging features of a 60-year-old woman affected by paratracheal lymph-node relapse of Hurtle Cell Carcinoma who came to our attention after full COVID-19 vaccination because of neck swelling and pain.

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The tall-cell variant of papillary thyroid carcinoma (TCPTC) is the most common aggressive variant of papillary thyroid carcinoma (PTC) and typically occurs in older patients. In this study, we analyzed retrospectively the largest mono-institutional series of PTCs with tall-cell features (989 patients) over a 17-year period, re-evaluating tumors based on age at presentation and outcomes in different age groups. We divided patients into three age groups following different criteria (the criterion from the American Joint Committee on Cancer Tumor Node Metastasis (AJCC TNM) guidelines, criterion for the statistical division into tertiles and adolescent/post-adolescent criterion) to analyze the clinicopathological characteristics in different age groups, especially in terms of recurrence-free survival (RFS) and distant recurrence-free survival (DRFS).

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The relevance of thyroid autoimmunity to the prognosis of papillary thyroid carcinoma is still unsettled. We decided to investigate the impact of thyroid autoimmunity on the prognosis of papillary thyroid carcinoma and the handling of TgAbs. We evaluated the clinical course of a large group of patients according to the presence (PTC-LT) or absence (PTC) of lymphocytic thyroiditis at histology.

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The European Society for Clinical Nutrition and Metabolism (ESPEN) and the European Association for the Study of Obesity (EASO) launched the Sarcopenic Obesity Global Leadership Initiative (SOGLI) to reach expert consensus on a definition and diagnostic criteria for Sarcopenic Obesity (SO). The present paper describes the proceeding of the Sarcopenic Obesity Global Leadership Initiative (SOGLI) meeting that was held on November 25th and 26th, 2022 in Rome, Italy. This consortium involved the participation of 50 researchers from different geographic regions and countries.

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