Publications by authors named "Jean-Pierre de Jaureguiberry"

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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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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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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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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Renal clear cell carcinoma has a great metastatic potential, with possibly uncommon secondary lesions, notably in the head and neck region. The role of F-18 fluorodeoxyglucose positron emission tomography (F-18 FDG PET) in the staging or follow-up of urological malignancies is still not clearly defined. We report a case of metastatic renal cell carcinoma involving the tongue and a cervical lymph node, 3 years after initial nephrectomy.

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A 35-year-old man with a stage I non-seminomatous germ-cell tumor of the right testis was treated with a simple orchidectomy. Sixty-seven months later, the patient who was on clinical follow-up, has presented five bilateral lung nodules on computed-tomography scan. Additional staging showed no other abnormalities.

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The prevalence of occult hepatitis B infection in HIV infected patients is controversial, varying from less than 1% to 62% in different studies. Blood samples of 111 HIV-infected patients, HCV-positive, HBs antigen negative, followed in the APROCO-ANRS EP11 cohort, were used to detect HBV DNA by using 2 different validated assays (Cobas Amplicor HBV Monitor Test and INSERM U271 qualitative ultra-sensitive PCR), completed when positive by HBV real-time PCR. HBV DNA was found in 6 (5.

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Amyloid arthropathy occurs chiefly as a manifestation of beta(2) microglobulin amyloidosis in patients receiving chronic hemodialysis. AL amyloidosis complicating multiple myeloma is a less common cause. Amyloid arthropathy is exceedingly rare in patients with Waldenström macroglobulinemia.

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A patient meeting published criteria for remitting seronegative symmetrical synovitis with pitting edema (RS3PE) was found to have a synchronous recurrence of non-Hodgkin's malignant lymphoma. Reported cases of RS3PE associated with hematological malignancies and other forms of cancer are reviewed.

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From 1978 to 2002, 30 patients presenting hairy-cell leukemia were seen in two different hospitals. We reviewed clinical, biological and therapeutic data. At diagnosis, the median age was 67.

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