Differentiated Thyroid Cancer in Children and Adolescents: 12-year Experience in a Single Center.

Objective: Differentiated thyroid cancer (DTC) is the most common pediatric endocrine cancer but studies are scarce. Latest recommendations advocate for an individualized risk-based approach to select patients for additional therapy. Lymphovascular invasion is not considered, despite being a well-known risk factor in the adult population.

What have we learned on pre, very early, and early systemic sclerosis microcirculatory pathophysiology? A scoping review.

Objective: Microvascular dysfunction is an early event in the pathogenesis of systemic sclerosis (SSc). The objective of this scoping review is to update the current information and the level of knowledge about the mechanisms of microvascular dysfunction in pre-SSc, very early diagnosis of SSc (VEDOSS) and early SSc.

Methods: A PubMed® database search allowed us to include original data from full-length articles in English in which the main topic was microvascular dysfunction in pre-SSC, VEDOSS or early SSc.

Re-evaluation of nailfold capillaroscopy in discriminating primary from secondary Raynaud's phenomenon and in predicting systemic sclerosis: a randomised observational prospective cohort study.

Background: Primary Raynaud's phenomenon (pRP) is difficult to distinguish from secondary (sRP). Although nailfold capillaroscopy (NFC) may detect early alterations, no universal criteria yet discriminate between pRP from sRP.

Objectives: To create and validate two NFC scores that could distinguish pRP from sRP and that could predict systemic sclerosis (SSc), respectively.

Studying Erythromelalgia Using Doppler Flowmetry Perfusion Signals and Wavelet Analysis-An Exploratory Study.

Erythromelalgia (EM) is a rare disease, which is still poorly characterized. In the present paper, we compared the hand perfusion of one female EM patient, under challenges, with a healthy control group. Using a laser Doppler flowmeter (LDF) with an integrated thermal probe, measurements were taken in both hands at rest (Phase I) and after two separate challenges-post-occlusive hyperemia (PORH) in one arm (A) and reduction of skin temperature (cooling) with ice in one hand (B) (Phase II).

Hyperthyroidism in McCune-Albright Syndrome - a case report.

Objectives: We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE).

Case Presentation: We report the case of a 13-year-old male child who presented with a macule in the lumbosacral region and disabling polyostotic FD, requiring several surgical interventions and bisphosphonates from the age of 3 years (Y) + 9 months (M) due to persistent and severe pain. Hyperthyroidism (HT) became apparent at 5 Y + 1 M with a T3/T4 ratio greater than 20.

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period.

Summary: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis.

Patient-Derived Extracellular Vesicles Proteins as New Biomarkers in Multiple Myeloma - A Real-World Study.

Multiple myeloma (MM) is a hematological malignancy of clonal antibody-secreting plasma cells (PCs). MM diagnosis and risk stratification rely on bone marrow (BM) biopsy, an invasive procedure prone to sample bias. Liquid biopsies, such as extracellular vesicles (EV) in peripheral blood (PB), hold promise as new minimally invasive tools.

Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study.

Objectives: Polyglandular autoimmune syndromes (PAS) are characterized by the association of two or more autoimmune diseases (AID) and are classified into four types. PAS type 1 is more frequently manifested in childhood, but the prevalence of other PAS in children, less described in the literature, seems to be underestimated.

Methods: This study aimed to evaluate the prevalence of PAS in a selected pediatric population of 879 children with Diabetes mellitus type 1 (DM1), autoimmune thyroid disease (AITD), and Addison's disease (AD) followed in our hospital for 10 years and describe and classify the manifestations of different PAS.

Impact of Pre-Analytical and Analytical Variables Associated with Sample Preparation on Flow Cytometric Stainings Obtained with EuroFlow Panels.

Objective interpretation of FC results may still be hampered by limited technical standardization. The EuroFlow consortium conducted a series of experiments to determine the impact of different variables on the relative distribution and the median fluorescence intensity (MFI) of markers stained on different cell populations, from both healthy donors and patients' samples with distinct hematological malignancies. The use of different anticoagulants; the time interval between sample collection, preparation, and acquisition; pH of washing buffers; and the use of cell surface membrane-only (SM) vs.

A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy.

Summary: Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D.

Expert-independent classification of mature B-cell neoplasms using standardized flow cytometry: a multicentric study.

Reproducible expert-independent flow-cytometric criteria for the differential diagnoses between mature B-cell neoplasms are lacking. We developed an algorithm-driven classification for these lymphomas by flow cytometry and compared it to the WHO gold standard diagnosis. Overall, 662 samples from 662 patients representing 9 disease categories were analyzed at 9 laboratories using the previously published EuroFlow 5-tube-8-color B-cell chronic lymphoproliferative disease antibody panel.

Acute hospitalization in a cohort of patients with systemic sclerosis: a 10-year retrospective cohort study.

This study aimed at analysing the causes and predictors of acute hospitalization and mortality in a cohort of SSc. Retrospective analysis of all acute hospital admissions of SSc patients fulfilling the 2013 EULAR/ACR Classification Criteria, from a single-centre cohort of 95 patients, between 2010 and 2020. The total number of SSc patients registered in our hospital, in this period, was 123.

Boosting Immunity against Multiple Myeloma.

Despite the improvement of patient's outcome obtained by the current use of immunomodulatory drugs, proteasome inhibitors or anti-CD38 monoclonal antibodies, multiple myeloma (MM) remains an incurable disease. More recently, the testing in clinical trials of novel drugs such as anti-BCMA CAR-T cells, antibody-drug conjugates or bispecific antibodies broadened the possibility of improving patients' survival. However, thus far, these treatment strategies have not been able to steadily eliminate all malignant cells, and the aim has been to induce a long-term complete response with minimal residual disease (MRD)-negative status.

The Immune Microenvironment in Multiple Myeloma: Friend or Foe?

Multiple myeloma (MM) is one of the most prevalent hematological cancers worldwide, characterized by the clonal expansion of neoplastic plasma cells in the bone marrow (BM). A combination of factors is implicated in disease progression, including BM immune microenvironment changes. Increasing evidence suggests that the disruption of immunological processes responsible for myeloma control ultimately leads to the escape from immune surveillance and resistance to immune effector function, resulting in an active form of myeloma.

Automated identification of leukocyte subsets improves standardization of database-guided expert-supervised diagnostic orientation in acute leukemia: a EuroFlow study.

Precise classification of acute leukemia (AL) is crucial for adequate treatment. EuroFlow has previously designed an AL orientation tube (ALOT) to guide toward the relevant classification panel and final diagnosis. In this study, we designed and validated an algorithm for automated (database-supported) gating and identification (AGI tool) of cell subsets within samples stained with ALOT.

Patient-reported outcome instruments in clinical trials of systemic sclerosis.

Patient-reported outcome instruments provide valuable insight into disease-related morbidity known only to the patient and complement more objective outcome tools in the clinical trial setting. They are of particular importance in systemic sclerosis owing to the challenges around defining disease activity, the episodic nature of many disease-specific manifestations and the paucity of validated objective surrogate outcome measures for use in clinical trials. Early clinical trials of systemic sclerosis often incorporated legacy patient-reported outcome instruments, but the last 20 years has witnessed the emergence of several scleroderma-specific instruments that are now being routinely used alongside other outcomes in systemic sclerosis clinical trials.

Liquid biopsies for multiple myeloma in a time of precision medicine.

Multiple myeloma (MM) is a challenging, progressive, and highly heterogeneous hematological malignancy. MM is characterized by multifocal proliferation of neoplastic plasma cells in the bone marrow (BM) and sometimes in extramedullary organs. Despite the availability of novel drugs and the longer median overall survival, some patients survive more than 10 years while others die rapidly.

Nailfold Videocapillaroscopy Changes Are Associated With the Presence and Severity of Systemic Sclerosis-Related Interstitial Lung Disease.

Objective: The aim of this study was to evaluate the association of nailfold videocapillaroscopy (NVC) changes and the presence and severity of interstitial lung disease (ILD) in systemic sclerosis.

Methods: This was a cross-sectional analysis of 48 systemic sclerosis patients (21 patients with ILD). The NVC characteristics considered were capillary organization, capillary loss (CL), avascular areas, enlarged and giant capillaries, hemorrhages, abnormally shaped capillaries, edema, and intermittent flux.

Distinctive clinical phenotype of anti-centromere antibody-positive diffuse systemic sclerosis.

Objectives: The aim was to define clinical characteristics and long-term survival of patients with dcSSc and positive ACA.

Methods: We identified all cases of ACA SSc in our cohort ( = 1313). Those with dcSSc (ACA diffuse) were compared with representative groups of consecutive ACA patients with limited subset (ACA limited) and ACA dcSSc (non-ACA diffuse).

Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl.

Limbic encephalitis is a rare neurological disorder that may be difficult to recognize. Clinical features include memory impairment, temporal lobe seizures and affective disturbance. We report the case of a 10-year-old girl with type 1 diabetes mellitus that presented with seizures, depressed mood and memory changes.