Oxford Hip and Shoulder Scores as Potential Tools for the Early Detection of Avascular Necrosis in Apparently Unaffected Sites in Sickle Cell Disease: Results from a Prospective Cohort Study.

Sickle Cell Disease (SCD) has a significant impact on the musculoskeletal system. The use of the Oxford Hip (OHS) and Shoulder score (OSS) as patient-reported outcome measures (PROMs) revealed a high rate of long-term impairment in joints with a pre-existing diagnosis of avascular necrosis (AVN). With this study, we aimed at detecting dysfunction in joints apparently not affected by AVN.

CB2 and TRPV1 receptors in inflammatory state of macrophages from sickle cell anemia pediatric/young adults.

Sickle Cell Disease (SCD) is a monogenic disorder characterized by the production of abnormal hemoglobin. Polymerization of HbS causes sickling of red blood cells (RBCs) evidenced by acute adverse events and persistent inflammatory state, vasculopathy and organ damage. Sickled RBCs cause an anemic condition and vaso-occlusive crisis which trigger leukocytes, endothelial cells, and platelets.

The phenotypes of sickle cell disease: strategies to aid the identification of undiagnosed patients in the Italian landscape.

Sickle cell disease (SCD) is an inherited autosomal recessive monogenic blood disorder characterized by red blood cell sickling responsible for recurrent vaso-occlusive crises and chronic hemolysis. Clinical manifestations vary and SCD patients experience increased morbidity and mortality. In Italy, SCD patients cluster into two distinct subpopulations: those of sub-Saharan African descent and those of Caucasian descent.

Underlying disease is the main risk factor in post-splenectomy complication risk: Data from a national database.

Splenectomy is required for many haematological conditions and causes an increased risk of severe infections and vascular events. The association between underlying haematological disease, age at splenectomy and post-splenectomy complications was explored among 1348 splenectomized patients, followed with a median follow-up time of 13 years and affected by transfusion-dependent thalassaemia, non-transfusion-dependent thalassaemia (NTDT), sickle cell anaemia (SCA), congenital haemolytic anaemias, autoimmune haematological disorders and trauma. Our main statistical approach was based on interaction analyses within competing-risk survival models.

Characterisation of transfusion-dependent prediabetes using continuous glucose monitoring: The Haemoglycare study.

Aims: Continuous Glucose Monitoring (CGM) may help detect early dysglycemia in Transfusion-Dependent Thalassemia (TDT) patients, though previous reports suggest it may overestimate prediabetes prevalence. This study analyzed glucose-related metrics in TDT patients with negative diabetes screening tests, compared with healthy controls. A secondary objective was to assess the association between TAR140 > 6 % and clinical/laboratory characteristics of patients.

Impairment of Innate Immunity and Depletion of Vaccine-Induced Memory B and T Cells in the Absence of the Spleen.

Splenectomy or congenital asplenia is associated with severe reduction of memory B cells and increased risk of fulminant sepsis by encapsulated bacteria. Current guidelines recommend vaccinations against these pathogens before or after splenectomy, but the longevity of immunity acquired after splenectomy has not been determined. The impact of splenectomy on innate immune cells is unknown.

Thalassemias and Sickle Cell Diseases in Pregnancy: SITE Good Practice.

Hereditary hemoglobin disorders are the most common globally distributed monogenic red cell diseases. The rights of women with thalassemia or sickle cell disease (SCD) to motherhood need to be protected by creating a roadmap to guide her, and her family network, along all the phases of the event. In fact, pregnancy in these vulnerable patients requires special attention and guidelines from the counseling stage (giving information about the special requirement and risks posed by their pregnancy with respect to the general population) the pre-conception stage, the early and mid-late pregnancy stage, to labor and lactation.

Screening for sickle cell disease by point-of-care tests in Italy: pilot study on 1000 at risk children.

Unlabelled: Sickle cell disease (SCD) is a global health problem causing premature deaths and preventable severe chronic complications. A priority goal to improve outcomes both in the short and long term is the screening for early diagnosis and access to specialized care. In Italy, as in other countries, no systematic national screening program is available.

Long-term outcomes of avascular necrosis in sickle cell disease using joint-specific patient-reported outcome measures: Results from a multicentre study.

Avascular necrosis (AVN) is a prevalent and progressive complication in young patients with sickle cell disease (SCD), but no study evaluated the long-term subjective and objective outcome measures. Oxford hip score (OHS) and Oxford shoulder scores (OSS) are validated joint-specific patient-reported outcome measures (PROMs). In this prospective multicentre study, 47 SCD patients with pre-existing diagnosis of AVN occurred at a median age of 35.

Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.

Multiple endocrine neoplasia (MEN) syndromes are part of a spectrum of clinically well-defined tumor syndromes ultimately characterized by histologically similar tumors arising in patients and families with mutations in one of the following four genes: , , , and . The high level of genetic and phenotypic heterogeneity has been linked to phenocopies and modifying genes, as well as unknown mechanisms that might be investigated in the future based on preclinical and translational considerations. MEN1, also known as Wermer's syndrome (OMIM *131100), is an autosomal dominant syndrome codifying for the most frequent MEN syndrome showing high penetrance due to mutations in the MEN1 gene; nevertheless, clinical manifestations vary among patients in terms of tumor localization, age of onset, and clinical aggressiveness/severity, even within the same families.

Limited access to transcranial Doppler screening and stroke prevention for children with sickle cell disease in Europe: Results of a multinational EuroBloodNet survey.

Background: Ensuring equitable access to adequate standard of care for patients with rare hematological disease is one of the aims of the European Reference Network (ERN) EuroBloodNet. Stroke is one of the most devastating complications for children with sickle cell disease (SCD). For effective prevention of stroke risk, annual transcranial Doppler (TCD) according to a defined protocol is recommended for patients aged 2-16 years, with red blood cell transfusion therapy for those at risk.

Absence of blood donors' anti-SARS-CoV-2 antibodies in pre-storage leukoreduced red blood cell units indicates no role of passive immunity for blood recipients.

Transfer of vaccine antibodies (Ab) from donors to recipients after transfusion of packed red blood cells (RBC) is supposed, thus affecting the recipients' response to vaccinations. In this prospective study, SARS-CoV-2 IgG level in donors' serum and RBC supernatant samples was assessed. Among 346 subjects, 280 were referred for hyperimmune plasma donation and 30 for whole blood donations.

Recommendations for the management of acute immune thrombocytopenia in children. A Consensus Conference from the Italian Association of Pediatric Hematology and Oncology.

Background: Immune thrombocytopenia (ITP) is an acquired immune-mediated bleeding disorder characterized by isolated thrombocytopenia. Its estimated yearly incidence in the pediatric population is 1.9-6.

Incidence of cancer and related deaths in hemoglobinopathies: A follow-up of 4631 patients between 1970 and 2021.

Background: The correlation between thalassemia and malignancies other than hepatocellular carcinoma (HCC) and the possible relationship between other hemoglobinopathies and tumor risk have been poorly evaluated.

Methods: Eight Italian specialized centers evaluated the incidence of malignant neoplasms in hemoglobinopathies as well as their sites and features. The study cohort included 4631 patients followed between 1970 and 2021 (transfusion-dependent β-thalassemia, 55.

[The Management of Endocrine Complications in Patients with Haemoglobinopathies: Good Clinical Practice of the Italian Society of Thalassemia and Haemoglobinopathies (SITE).].

Background: The treatment of endocrinopathies in haemoglobinopathies is a continually expanding research area; therefore, recommendations supporting the appropriateness of treatments are a pressing need for the medical community.

Methods: The Management Committee of SITE selected and gathered a multidisciplinary and multiprofessional team including experts in haemoglobinopathies and experts in endocrinopathies, who have been flanked by experts with methodological and organizational expertise, in order to formulate recommendations based on the available scientific evidence integrated by clinical experience. The project followed the systematic approach for the production of clinical practice guidelines according to the methodology suggested by the National Center for Clinical Excellence, Quality and Safety of Care (CNEC).