Inhibitor Eradication in Postpartum Acquired Haemophilia A: Real-Life Case Series and Literature Review.

Background: Acquired haemophilia A (AHA) is a rare and severe bleeding disorder generally associated with pregnancy or aging. Spontaneous remission and prompt inhibitor eradication are described more frequently in postpartum cases. We evaluated retrospectively 15 postpartum AHA cases between 2007 and 2023 in order to evaluate response in terms of inhibitor eradication.

The impact of pancreas transplantation on diabetic complications: A systematic review.

Background: Pancreas Transplantation (PT) provides optimal treatment for patients with severe complicated Type 1 Diabetes Mellitus (T1DM). Restoration of beta-cell mass allows return to euglycaemia and insulin independence. We aimed to examine its impact on the secondary complications associated with severe T1DM including diabetic eye disease, neuropathy and cardiovascular disease.

Tildrakizumab and Quality of Life: Deep Dive into the Impact of Psoriasis and Treatment on Different Domains-Should Psychosocial Life Impairment Be Considered a Comorbidity?

: Psoriasis is a chronic inflammatory skin disease that may have a significant impact on patients' quality of life. Alongside clinical scores, treatment goals include improvements in patients' quality of life, divided into its social, working and psychosocial life aspects. Indeed, psychological impairment should always be considered in the management of moderate-to-severe psoriasis.

A New Tool Supporting the Selection of the Best Hematopoietic Stem Cell Donor by Modelling Local Own Real-World Data.

Background: The selection of the best donor for each specific patient is crucial for the success of allogeneic hematopoietic stem cell transplantation (HSCT). However, there is debate on the choice of the best donor when multiple suitable donors exist.

Methods: By using own data from two transplant centers, we have developed a calculator able to provide the patients' 2-year overall survival (OS) associated with each of the potential donor options during the selection process, in order to support the transplant physician during the choice.

Effects of Virtual Rehabilitation Training on Post-Stroke Executive and Praxis Skills and Depression Symptoms: A Quasi-Randomised Clinical Trial.

Introduction: Apraxia is a neurological disorder that is common after a stroke and impairs the planning and execution of movements. In the rehabilitation field, virtual reality (VR) presents new opportunities and offers advantages to both rehabilitation teams and individuals with neurological conditions. Indeed, VR can stimulate and improve cognitive reserve and abilities, including executive function, and enhance the patient's emotional status.

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Gaucher disease and Acid Sphingomyelinase Deficiency, which is caused by acid sphingomyelinase dysfunction. The possible overlap in clinical presentation can cause diagnostic errors in differential diagnosis.

Microfabrication of piezoelectric MEMS based on thick LiNbOsingle-crystal films.

Microfabrication procedure of piezoelectric micro electro-mechanical systems based on 5m thick LiNbOfilms on SiO/Si substrate at wafer scale including deep dry etching of thick LiNbOfilms by implementing pulsed mode of Ar/SFgas was developed. In particular, two (YXlt)/128°/90°LiNbO-Si cantilevers with tip mass were fabricated and characterized in terms of resonance frequency (511 and 817 Hz), actuation and acceleration sensing capabilities. The quality factor of 89.

Acute GVHD classification based on the dynamics of GVHD skin involvement from its appearance to the start of systemic treatment.

We conducted a prospective study aimed at investigating the prognostic value of the dynamic of a-GVHD progression from cutaneous to visceral involvement. In 108 consecutive patients who underwent allogeneic HSCT, we classified a-GVHD according to a "GHVD skin dynamic": 18/82 patients started Corticosteroid (CS) within 48 h (Group 1); 13/82 started CS within days 3-7 (Group 2); Group 3A (n 31) was defined when Skin GVHD Overall Grade 1, left untreated for 1 week, showed an increase in involved body surface area <5 %; Group 3B (n 20), was defined when Skin GVHD Overall Grade 1, left untreated at 1 week, had an increase in involved body surface area >5%. These four groups had distinctive 2-y OS.

Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance.

Background: Gaucher disease (GD) is a rare autosomal recessive inherited disorder caused by the lysosomal enzyme acid β-glucosidase deficiency. Many patients experience a critical delay in the diagnosis of up to 8-10 years due to its rarity and variability in signs and symptoms, with the consultation of several specialists.

Patients And Methods: This prospective observational study analyzed the prevalence of GD in 600 patients with monoclonal gammopathy of uncertain significance (MGUS) from January 2018 until February 2022.

Effectiveness and Safety of Eliglustat Treatment in Gaucher Disease: Real-life Unicentric Experience.

Purpose: The therapy and management of Gaucher disease (GD) have radically changed with the use of substrate reduction therapy, of which eliglustat is the most widely known drug, allowing it to overcome the limits of enzyme replacement therapy (ERT). The rarity of GD and the limited use of eliglustat outside clinical trials require further study of its strengths and weaknesses.

Methods: In this study, we evaluated the effectiveness and safety of eliglustat in a cohort of 12 patients with GD followed up in our center, reporting a reduction in both chitotriosidase (394.

Additional Genetic Alterations and Clonal Evolution of MPNs with Double Mutations on the Gene: Two Case Reports.

Essential thrombocythemia (ET) and primary myelofibrosis (PMF) are two of the main -negative chronic myeloproliferative neoplasms (MPNs) characterized by abnormal megakaryocytic proliferation. () mutations are detected in 50-60% of ET and PMF, while () virus oncogene mutations are present in 3-5% of cases. While Sanger sequencing is a valuable diagnostic tool to discriminate the most common MPN mutations, next-generation sequencing (NGS) is a more sensitive technology that also identifies concurrent genetic alterations.

Myelofibrosis and Survival Prognostic Models: A Journey between Past and Future.

Among the myeloproliferative diseases, myelofibrosis is a widely heterogeneous entity characterized by a highly variable prognosis. In this context, several prognostic models have been proposed to categorize these patients appropriately. Identifying who deserves more invasive treatments, such as bone marrow transplantation, is a critical clinical need.

Nationwide Survey on the Use of Thrombopoietin Receptor Agonists (TPO-RA) for the Management of Immune Thrombocytopenia in Current Clinical Practice in Italy.

Background: Two thrombopoietin receptor agonists (TPO-RA), romiplostim and eltrombopag, are currently widely adopted as second-line ITP therapy even in the absence of robust evidence on their comparative advantages over rituximab or splenectomy or their preferential use in some specific clinical contexts.

Methods: An online survey was distributed between May 2021 and June 2021 to collect standardized information on TPO-RA use in Italy.

Results: Eighty-eight hematologists from 79 centers completed the survey.

Trabecular bone score, bone marrow fat and vertebral fractures in cushing syndrome.

Objective: Prediction of fragility fractures in Cushing syndrome (CS) is a challenge since dual energy X-ray absorptiometry (DXA) measurement of bone mineral density (BMD) does not capture all the alterations in bone microstructure induced by glucocorticoid excess. In this study we investigated the relationship between trabecular bone score (TBS), bone marrow fat (BMF) and vertebral fractures (VFs) in endogenous CS.

Design: Cross-sectional.

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.

Background: Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring.

Epidemiology, course, and outcomes of Sars-CoV-2 infection in patients with acromegaly and Cushing's disease: a monocentric experience in Southern Italy.

Purpose: Acromegaly (AC) and Cushing's disease (CD) increase morbidity and mortality due to cardio-metabolic alterations, and overall cause frailty in the affected patients, potentially making them more susceptible to infective diseases. However, up to now, very few studies evaluated the course of COVID-19 disease in this setting.

Methods: We investigated epidemiology, course, and outcomes of COVID-19 disease in patients with AC or CD, managed in the Endocrine Unit of a Sicilian University Hospital during 2 years of pandemic outbreak.

Infection during Ruxolitinib Treatment: The Cytokines-Based Immune Response in the Setting of Immunocompromised Patients.

Ruxolitinib is a JAK1/2 inhibitor that has revolutionized the approach to myelofibrosis. On the one side, this drug can rapidly improve the symptoms related to the hematological disease; on the other side, the inhibition of JAK1/2 can lead to immunosuppression which may increase the risk of infections, due to a change in the cytokine balance in favor of anti-inflammatory cytokines, to direct inhibition of immune cells, and to the suppression in the production of specific antibodies. In this patient setting, much is known about possible viral and bacterial infections, while little is reported in the literature concerning parasitic infections, specifically leishmaniasis.

Handheld Ultrasound or Conventional Ultrasound Devices in Patients Undergoing HCT: A Validation Study.

Abdominal ultrasound exams play a major role in the diagnosis of sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD). The development of portable hand-held ultrasound devices (HHUS) has been shown to facilitate the diagnosis of many diseases, but little data on the value of HHUS in the diagnosis of SOS/VOD are available. We performed a study aimed at validating portable ultrasound (US) devices in the setting of hematopoietic stem cell transplant (HCT).

Management of Endocrine and Metabolic Toxicities of Immune-Checkpoint Inhibitors: From Clinical Studies to a Real-Life Scenario.

Immune checkpoint inhibitors (ICIs) have revolutionized the therapeutic landscape of solid tumors. However, although ICIs are better tolerated than conventional chemotherapy, their use is associated with a peculiar toxicity profile, related to the enhancement of the immune response, affecting several organs. Among immune-related adverse events (irAEs), up to 10% involve the endocrine system.

Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.

Lysosomal storage disorders are a group of inborn errors of metabolism due to defects in proteins crucial for lysosomal function. Gaucher disease is the most common autosomal recessive lysosomal storage disorder due to mutations in the GBA1 gene, resulting in the lysosomal deficiency of glucocerebrosidase activity. Gaucher disease is characterized by the toxic accumulation of glucosylceramide in the reticuloendothelial system.

Multidisciplinary Rheuma-Derma Clinics: 5 Years of Experience at the San Marco Hospital in Catania.

Introduction: Early psoriatic arthritis (PsA) diagnosis is critical to prescribe timely treatment to prevent the irreversible joint damage and the many other problems that patients with PsA experience. This retrospective study aimed to highlight the benefits of a Rheuma-Derma Clinic focused on the early diagnosis and prompt treatment of PsA with a shared approach among Italian psoriasis patients. Diagnosing PsA early is the main goal to reduce joint damage and disability in the patients affected.