Search results for "cytopenia"
showing 10 items of 123 documents
Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.
2015
Abstract GATA2 deficiency—formerly described as MonoMAC syndrome; dendritic cells, monocytes, B cells, and natural killer cell deficiency; familial myelodysplastic syndrome/acute myeloid leukemia; or Emberger syndrome—encompasses a range of hematologic and nonhematologic anomalies, mainly characterized by monocytopenia, B lymphopenia, natural killer cell cytopenia, neutropenia, immunodeficiency, and a high risk of developing acute myeloid leukemia. Herein, we present 7 patients with GATA2 deficiency recruited into the French Severe Chronic Neutropenia Registry, which enrolls patients with all kinds of congenital neutropenia. We performed extended immunophenotyping of their whole blood lymph…
Altered distribution and function of splenic innate lymphoid cells in adult chronic immune thrombocytopenia
2018
IF 7.607; International audience; Innate lymphoid cells (ILCs) have been characterized as innate immune cells capable to modulate the immune response in the mucosae. Human ILCs have been rarely described in secondary lymphoid organs except in tonsils. Moreover, their function and phenotype in human secondary lymphoid organs during autoimmune diseases have never been studied. We took advantage of splenectomy as a treatment of immune thrombocytopenia (ITP) to describe and compare splenic ILC from 18 ITP patients to 11 controls. We first confirmed that ILC3 represented the most abundant ILC subset in human non-inflamed spleens, accounting for 90% of total ILC, and that they were mostly constit…
Role of Surgical Versus Clinical Staging in Chemoradiated FIGO Stage IIB-IVA Cervical Cancer Patients—Acute Toxicity and Treatment Quality of the Ute…
2015
The Uterus-11 trial was designed to evaluate the role of surgical staging in patients with cervical cancer before primary chemoradiation therapy (CRT). The present report provides the toxicity data stratified by the treatment arm and technique.A total of 255 patients with carcinoma of the uterine cervix (International Federation of Gynecology and Obstetrics stage IIB-IVA) were randomized to either surgical staging followed by CRT (arm A) or clinical staging followed by CRT (arm B). Patients with para-aortic metastases underwent extended field radiation therapy (RT). Brachytherapy was mandatory. The present report presents the acute therapy-related toxicities stratified by treatment arm and …
Disease severity in patients with visceral leishmaniasis is not altered by co-infection with intestinal parasites
2017
Visceral leishmaniasis (VL) is a neglected tropical disease that affects the poorest communities and can cause substantial morbidity and mortality. Visceral leishmaniasis is characterized by the presence of Leishmania parasites in the spleen, liver and bone marrow, hepatosplenomegaly, pancytopenia, prolonged fever, systemic inflammation and low body mass index (BMI). The factors impacting on the severity of VL are poorly characterized. Here we performed a cross-sectional study to assess whether co-infection of VL patients with intestinal parasites influences disease severity, assessed with clinical and haematological data, inflammation, cytokine profiles and BMI. Data from VL patients was s…
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
2021
Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, a…
Myeloid sarcoma of the oral cavity : a case report and review of 89 cases from the literature
2017
Myeloid sarcoma is a tumor mass of immature myeloid or granulocytic cells that affects extramedullary anatomic sites, including uncommonly the oral cavity. A 24-year-old female was referred for evaluation of a fast growing painful gingival swelling lasting 2 weeks, associated with fever, fatigue, and cervical lymphadenopathy. Intraoral examination showed a bluish swelling on the right posterior lower gingiva exhibiting necrotic surface. Incisional biopsy of the gingival lesion displayed diffuse infiltration of undifferentiated tumor cells with granulocytic appearance, strongly immunopositive for CD99, myeloperoxidase and Ki-67 (60%), and negative for CD20, CD3, CD34 and TdT. Blood tests pre…
Ultrasonography-guided central venous catheterisation in haematological patients with severe thrombocytopenia
2012
BACKGROUND: Cannulation of the internal jugular vein (CVC) is a blind surface landmark-guided technique that could be potentially dangerous in patients with very low platelet counts. In such patients, ultrasonography (US)-guided CVC may be a valid approach. There is a lack of published data on the efficacy and safety of urgent US-guided CVC performed in haematological patients with severe thrombocytopenia. MATERIALS AND METHODS: We retrospectively studied the safety of urgent CVC procedures in haematological patients including those with severe thrombocytopenia (platelet count <30×10(9)/L). From January 1999 to June 2009, 431 CVC insertional procedures in 431 consecutive patients were evalu…
Epidemiology and clinical features of Mediterranean spotted fever in Italy
2006
Mediterranean Spotted Fever is caused by Rickettsia conorii and is transmitted to humans by Rhipicephalus sanguineus, the common dog tick. It is characterized by the symptomatologic triad: fever, exanthema and "tache noire", the typical eschar at the site of the tick bite. In Italy the most affected region is Sicily. The seasonal peak of the disease (from June through September) occurs during maximal activity of immature stage ticks. Severe forms of the disease have been reported in 6% of patients, especially adults with one of the following conditions: diabetes, cardiac disease, chronic alcoholism, glucose-6-phosphate dehydrogenase deficiency, end stage kidney disease. The mortality rate m…
Deferiprone versus deferoxamine in patients with thalassemia major: a randomized clinical trial.
2002
Deferiprone has been suggested as an effective oral chelation therapy for thalassemia major. To assess its clinical efficacy, we compared deferiprone with deferoxamine in a large multicenter randomized clinical trial. One-hundred forty-four consecutive patients with thalassemia major and serum ferritin between 1500 and 3000 ng/ml were randomly assigned to deferiprone (75 mg/kg/day) (n = 71) or deferoxamine (50 mg/kg/day) (n = 73) for 1 year. The main measure of efficacy was the reduction of serum ferritin. Liver and heart iron contents were assessed by magnetic resonance. Liver iron content and fibrosis stage variations were assessed on liver biopsy by the Ishak score in all patients willin…
Hematological immune related adverse events after treatment with immune checkpoint inhibitors
2021
Abstract Introduction With the increasing use of checkpoint inhibitors, rare immune-related adverse events (irAE) are being identified. Haematological irAE (hem-irAE) are difficult to treat and have shown high mortality rates. In order to improve side-effect management for these potentially life-threatening events, we analysed frequency, severity and outcomes. Patients and methods Patients who developed hem-irAE while being treated with immune checkpoint inhibitors (ICI) therapy were retrospectively identified from 18 international cancer centres. Results In total, more than 7626 patients treated with ICI were screened, and 50 patients with hem-irAE identified. The calculated incidence amou…