Publications by authors named "Jaureguiberry J"

Article Synopsis
  • - The study analyzed 126 individuals from 64 families with hereditary xerocytosis, revealing various clinical, hematologic, and genetic characteristics including specific mutations like p.Arg352His and new probable pathogenic variations.
  • - Key symptoms for diagnosis included persistent hemolysis after spleen removal and increased ferritin levels, along with significant risk factors for thrombotic events post-splenectomy and severe anemia in related disorders, which differ from hereditary xerocytosis.
  • - Findings highlight that hereditary xerocytosis and Gardos channelopathy are distinct conditions with shared features like hemolysis and iron overload, emphasizing the need for improved diagnosis and management strategies for affected patients.
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Aging persons living with HIV may develop multiple health problems, including comorbidities, and altered physical and mental health, earlier than non-infected people. They may also experience social deprivation. We assessed the prevalence of social deprivation and its relationship with health indicators in older persons living with HIV.

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Radiation induced gastroparesis as well as the other autonomic nervous system radiation induced neuropathies are poorly described in the literature. A case of gastroparesis associated with phrenic and recurrent laryngeal nerves paralysis was observed in a 69-year old patient. She was already treated two times by rachis radiotherapy in a context of breast cancer with bone metastases.

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Introduction: Acquired factor X deficiency is in most cases associated with AL amyloidosis. Acquired non-amyloid related factor X deficiency (DNAA-FX) has been exceptionally reported in the literature.

Case Report: We report the first case of acquired, non-amyloid related factor X deficiency associated with atypical chronic lymphoid leukemia in a 66-year-old patient with spontaneous hematomas.

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Objectives: We studied the clinical phenotypes and tolerance to treatments in a series of patients affected by both inflammatory joint diseases and mastocytosis.

Methods: This retrospective multicenter study was conducted on behalf of 3 networks focused on mastocytosis, pediatric, and adults' inflammatory joint diseases. Patients who displayed both mastocytosis and inflammatory joint diseases were included.

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Introduction: Neurological manifestations during Waldenstrom disease are common and are usually related to immune peripheral neuropathy or serum hyperviscosity syndrome. The infiltration of the central nervous system by the lymphoproliferative syndrome is known as the Bing-Neel syndrome. This extremely rare entity remains poorly described in the literature.

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Infections are an important cause of cancer in the world, representing approximately 16% of the neoplasia. Ten infectious agents have been classified as carcinogens of group I. Four of these pathogens (Helicobacter pylori, hepatitis B and C viruses, and some human papillomavirus) are responsible for 95% of cases of infection-related cancers.

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Imatinib is the treatment of choice for FIP1L1/PDGFRA (F/P)-associated chronic eosinophilic leukemia (F/P CEL), but its optimal dosing, duration, and possibility of discontinuation are still a matter of debate. A retrospective multicenter study was conducted with 44 F/P CEL patients identified in the French Eosinophil Network and treated with imatinib. The most frequently involved systems were skin (57%), spleen (52%), and lung (45%), and eosinophilic heart disease was observed in 15 patients (34%).

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Dehydrated hereditary stomatocytosis is a genetic condition with defective red blood cell membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations in the mechanically activated PIEZO1 (FAM38A) ion channel were associated with dehydrated hereditary stomatocytosis. However, it is not known how these mutations affect PIEZO1 function.

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Purpose Of The Study: Platelet transfusion follows the national guidelines published in 2003 by the AFSSAPS, determining, for instance, indications, transfusion threshold and platelets dose. We wanted to assess how these guidelines are routinely used in our hospital, with a special focus on transfusion threshold and delivered dose.

Material And Methods: We conducted a prospective study during 11 months on every platelet transfusion.

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Myelodysplastic syndrome with erythroid hypoplasia or erythroblastopenia has not yet been clearly defined, and in most patients it is mistaken for acquired pure red cell aplasia. Including one additional patient reported in this article, a literature review revealed only 50 cases over the last 20 years. These patients were predominantly elderly males, all required regular packed red cell transfusions, and they had a poor prognosis, mainly because of acute transformation.

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Objective: Management of nonviral cryoglobulinemia vasculitis has yet to be defined. Rituximab has emerged as a novel and promising therapeutic alternative, but data are scarce. Our objective was to evaluate the safety and efficacy of rituximab in nonviral cryoglobulinemia vasculitis in off-trial real-life patients.

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We report a 49-year-old man suffering from chronic hypereosinophilia whose biological tests revealed a gene rearrangement between FIP1L1 and PDGFRA as well as a T-cell clonality. After 1 year of therapy with imatinib mesylate (100 mg daily), the patient was clinically asymptomatic, the fusion transcript was undetectable using RTQ-PCR and no lymphoproliferative disorders occurred. This unique combination raises the question of the physiopathology of such a grey zone hypereosinophilia and their management.

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Macrophage activation syndrome (MAS) is a rare immunological disorder, rapidly life-threatening in the absence of specific treatment. Malignant lymphoma is common cause of MAS, but Hodgkin's lymphoma has been rarely associated with MAS. We report a 79-year-old man who presented a MAS as the presenting feature of Hodgkin's lymphoma, with a rapidly fatal outcome.

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Primary meningeal osteosarcomas are exceedingly rare. We report a case of a 51-year-old man with a chondroblastic osteosarcoma treated with pre-operative embolization, surgical removal, followed by adjuvant chemotherapy and radiation therapy. Patient is alive without any recurrence 43 months after diagnosis.

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