GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.

Background: Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD.

Materials And Methods: DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al.

Gallbladder hemorrhage-An uncommon surgical emergency: A case report.

Background: Gallbladder hemorrhage is a life-threatening disorder. Trauma (accidental or iatrogenic such as a percutaneous biopsy or cholecystectomy surgery), cholelithiasis, biliary tract parasitosis, vasculitis, vascular malformations, autoimmune and neoplastic diseases and coagulopathies have been described as causes of hemorrhage within the lumen of the gallbladder. The use of non-steroidal anti-inflammatory drugs and anticoagulants may represent a risk factor.

Gestational Diabetes Mellitus pregnancy by pregnancy: early, late and nonrecurrent GDM.

Aims: To assess the GDM recurrence rate in a cohort of pregnant women with prior GDM, to compare two consecutive pregnancies complicated by GDM, to compare women with nonrecurrent and recurrent GDM and to stratify the latter in women with early and late recurrent GDM.

Methods: Retrospective study including 113 women with GDM in an index pregnancy (G1), at least a postindex pregnancy (G2) and normal glucose tolerance in between. The GDM recurrence rate was assessed, and maternal and neonatal outcomes and pancreatic beta cell function of the index pregnancy were compared with those of the postindex pregnancy (G1 vs.

Influence of Body Mass Index, Cancer Type and Treatment on Long-Term Metabolic and Liver Outcomes in Childhood Cancer Survivors.

In the last decade, the survival of subjects affected by cancer in childhood has significantly improved. The increased lifespan of childhood cancer survivors (CCS) led to a greater risk for long-term, therapy-related morbidity. To identify the clinical predictors of metabolic adverse outcomes in CCS (average off-therapy period: 12 years), we recruited 126 survivors of different childhood cancers (86.

Epigenetic Mechanisms in Type 2 Diabetes Retinopathy: A Systematic Review.

Diabetic retinopathy (DR) is one of the main causes of vision loss in middle-aged economically active people. Modifiable (i.e.

COVID-19 vaccination in pregnant and lactating diabetic women.

Aim: To discuss available information on the opportunity for pregnant women affected by diabetes/obesity to receive COVID-19 vaccine.

Data Synthesis: Pregnant women with SARS-CoV-2 (COVID-19) infection are at high risk for severe acute respiratory syndrome and adverse outcomes. Pregnant women with severe COVID-19 present increased rates of preterm delivery (<37 gestational weeks), cesarean delivery and neonatal admissions to the intensive care unit.

Efficacy of flash glucose monitoring in pregnant women with poorly controlled pregestational diabetes (FlashMom): A randomized pilot study.

Background And Aims: Good glycemic control is crucial to reduce the risk of adverse pregnancy outcomes. Our aim was to evaluate the efficacy of Flash Glucose Monitoring (FGM) on glucose control in women with pregestational diabetes.

Methods And Results: Forty women with inadequately controlled type 1 (T1D, n = 34) and type 2 (T2D, n = 6) diabetes at conception were randomly assigned to two arms: the Flash Glucose group (FG, n = 21) using FGM, and the control group (CG, n = 19) using self-monitoring of blood glucose (SMBG).

Screening of postpartum diabetes in women with gestational diabetes: high-risk subgroups and areas for improvements-the STRONG observational study.

Aims: To assess the proportion of women with gestational diabetes (GDM) by performing postpartum Oral Glucose Tolerance Test (OGTT) and to identify GDM phenotypes at high-risk of postpartum dysglycemia (PPD).

Methods: Observational, retrospective, multicenter study involving consecutive GDM women. Recursive partitioning (RECPAM) analysis was used to identify distinct and homogeneous subgroups of women at different PPD risk.

Maternal Diabetes Impairs Insulin and IGF-1 Receptor Expression and Signaling in Human Placenta.

Background: Maternal high blood glucose during pregnancy increases the risk for both maternal and fetal adverse outcomes. The mechanisms underlying the regulator effects of hyperglycemia on placental development and growth have not been fully illustrated yet. The placenta expresses high amounts of both insulin receptor (IR) and insulin-like growth factor receptor (IGF-1R).

Risk for Coexistent Autoimmune Diseases in Familial and Sporadic Type 1 Diabetes is Related to Age at Diabetes Onset.

Objective: Type 1 diabetes (T1D) is frequently associated with other autoimmune diseases (AIDs). Although most of T1D patients are sporadic cases (S-T1D), 10% to 15% have a familial form (F-T1D) involving 2 or more first-degree relatives. This study evaluated the effect of T1D family aggregation and age onset on AIDs occurrence.

Subacute thyroiditis in a patient infected with SARS-COV-2: an endocrine complication linked to the COVID-19 pandemic.

Purpose: Subacute thyroiditis (SAT) is an inflammatory thyroid disorder of viral origin, generally preceded by an upper respiratory tract infection. Since the disorder is self-limiting, it is frequently underdiagnosed. However, the disease should not be overlooked since the associated thyrotoxicosis may worsen the clinical course of concomitant disorders (e.

A multi-stakeholder approach in optimising patients' needs in the benefit assessment process of new metastatic breast cancer treatments.

There is a growing understanding as science evolves that different cancer types require different approaches to treatment evaluation, especially in the metastatic stages. The introduction of new metastatic breast cancer (MBC) treatments may be hindered by several elements, including the availability of relevant evidence related to disease-specific outcomes, the benefit assessment process around the evaluation of the clinical benefit and the patients' need of new treatments. The Steering Committee (SC) found that not all issues relevant to MBC patients are consistently considered in the current benefit assessment process of new treatments.

Thyroidectomy as Treatment of Choice for Differentiated Thyroid Cancer.

Background: Despite a large amount of data, the optimal surgical management of differentiated thyroid cancer remains controversial. Current guidelines recommend total thyroidectomy if primary thyroid cancer is >4 cm, while for tumors that are between 1 and 4 cm in size, either a bilateral or a unilateral thyroidectomy may be appropriate as surgical treatment. In general, total thyroidectomy would seem to be preferable because subtotal resection can be correlated with a higher risk of local recurrences and cervical lymph node metastases; on the other hand, total thyroidectomy is associated with more complications.

Short-term adverse effects of anticancer drugs in patients with type 2 diabetes.

The short-term adverse effects of anticancer drugs (AD) in patients with type 2 diabetes (T2D) are poorly studied and their management still represents an important challenge for clinicians. We carried out a retrospective single-center study in 168 patients with T2D and cancer, evaluating both the short-term effects of first-line AD on glycemic control and chronic diabetes complications. Average glycated hemoglobin significantly increased after AD compared to values before treatment (7.

Insulin Receptor Isoforms in Cancer.

The insulin receptor (IR) mediates both metabolic and mitogenic effects especially when overexpressed or in clinical conditions with compensatory hyperinsulinemia, due to the metabolic pathway resistance, as obesity diabetes. In many cancers, IR is overexpressed preferentially as IR-A isoform, derived by alternative splicing of exon 11. The IR-A overexpression, and the increased IR-A:IR-B ratio, are mechanisms that promote the mitogenic response of cancer cells to insulin and IGF-2, which is produced locally by both epithelial and stromal cancer cells.

Neural Stem Cell Grafts Promote Astroglia-Driven Neurorestoration in the Aged Parkinsonian Brain via Wnt/β-Catenin Signaling.

During aging-one the most potent risk factors for Parkinson's disease (PD)-both astrocytes and microglia undergo functional changes that ultimately hamper homoeostasis, defense, and repair of substantia nigra pars compacta (SNpc) midbrain dopaminergic (mDA) neurons. We tested the possibility of rejuvenating the host microenvironment and boosting SNpc DA neuronal plasticity via the unilateral transplantation of syngeneic neural stem/progenitor cells (NSCs) in the SNpc of aged mice with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced experimental PD. Transplanted NSCs within the aged SNpc engrafted and migrated in large proportions to the tegmental aqueduct mDA niche, with 30% acquiring an astroglial phenotype.

Heavy metals in the volcanic environment and thyroid cancer.

In the last two decades thyroid cancer incidence has increased worldwide more than any other cancer. Overdiagnosis of subclinical microcarcinomas has certainly contributed to this increase but many evidences indicate that a true increase, possibly due to environmental factors, has also occurred. Thyroid cancer incidence is markedly increased in volcanic areas.

Remifentanil and worse patient-reported outcomes regarding postoperative pain management after thyroidectomy.

Background: Intraoperative remifentanil has been associated with postoperative hyperalgesia, higher visual analogic pain scores, and increased postoperative morphine consumption. However, this has not been investigated from patient's perspective by using a patient-reported outcomes (PROs) approach with a validated questionnaire.

Methods: We joined the largest prospective observational study on postoperative pain, PAIN OUT Project (NCT02083835), and collected data for 2 years.

The changing epidemiology of thyroid cancer: why is incidence increasing?

Purpose Of Review: Thyroid cancer incidence is increasing worldwide. Causes are highly debated.

Recent Findings: Thyroid cancer increase has been associated to socioeconomic status, better access to healthcare and rising use of thyroid imaging.

Laparoscopic Reversal of Hartmann's Procedure: State of the Art 20 Years after the First Reported Case.

Introduction. Aim of the present work is to review the literature to point out the role of laparoscopic reversal of Hartmann procedure. Material and Methods.

Managing the incidentally detected gallbladder cancer: algorithms and controversies.

Introduction: Gallbladder cancer (GBC) is the fifth most common neoplasm of the gastrointestinal tract and the most common cancer of the biliary tract. GBC is suspected preoperatively in only 30-40% of patients. The other 60-70% are discovered incidentally (IGBC) by the pathologist on a gallbladder specimen following cholecystectomy for benign diseases such as polyps, gallstones, and cholecystitis.

The safety of the Harmonic® FOCUS in open thyroidectomy: a prospective, randomized study comparing the Harmonic® FOCUS and traditional suture ligation (knot and tie) technique.

Since Kocher and Billroth refined an acceptable technique, the thyroidectomy has become one of the most frequent procedures in endocrine surgery and bilateral total thyroidectomy is performed in the majority of thyroid diseases. This work evaluated the use of the Harmonic(®) FOCUS and traditional suture ligation (knot and tie) technique in a prospective, randomized study of open thyroidectomy. Eighty two patients were randomized and divided into two similarly sized groups: the Harmonic(®) FOCUS group (F group) and traditional group (T group).