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Pernicious anemia, a manifestation of vitamin B12 deficiency, can present with a spectrum of hematological abnormalities, sometimes mimicking more severe conditions such as thrombotic microangiopathy (TMA). This case report details a 53-year-old female who presented with significant weight loss, watery diarrhea, and jaundice. Laboratory investigations revealed pancytopenia, hemolysis, and schistocytes, initially suggesting a diagnosis of microangiopathic hemolytic anemia (MAHA). However, significantly low vitamin B12 levels and subsequent bone marrow examination confirmed pernicious anemia with megaloblastic changes. This case underscores the importance of considering vitamin B12 deficiency in the differential diagnosis of patients presenting with TMA-like symptoms. Early recognition and treatment with vitamin B12 supplementation led to rapid clinical improvement and the resolution of symptoms. This report highlights the need for heightened clinical awareness of atypical presentations of pernicious anemia to prevent misdiagnosis and ensure timely, effective treatment.
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Arterial aneurysms are rare and may occur in the context of Behçet's disease. The natural progression of these aneurysms can lead to an increase in their size and eventual rupture into the bronchi, causing life-threatening hemoptysis. We report a case of a subclavian artery aneurysm in a 30-year-old female patient with Behçet's disease who presented with moderate hemoptysis caused by a fistulized left subclavian artery aneurysm into the left main bronchus. The patient was treated with a bolus of corticosteroids followed by oral therapy, and six boluses of cyclophosphamide were scheduled. Unfortunately, the patient's condition deteriorated, and she died after her second cycle of cyclophosphamide following fulminant hemoptysis. The management of aneurysms in Behçet's disease is not standardized, but embolization appears to be the most promising conservative therapy.
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Granulomatous mastitis is an inflammatory disease that often affects women with a history of breastfeeding. The pathogenesis is still unclear and several factors have been incriminated, such as trauma, metabolic and hormonal disorders, infections, and autoimmunity. This poses a diagnostic issue, given that there are several different diagnoses, particularly carcinomatous mastitis. We report the case of a 32-year-old woman, with a history of breastfeeding, who presented with inflammatory left breast. The physical examination has objectified a 10/10 cm painless mass and a 3 cm homolateral axillary lymphadenopathy. A sonomammography revealed inflammatory left breast infiltration with multiple collections associated with homolateral axillary lymphadenopathies. A Trucut biopsy was performed, revealing granulomatous mastitis without signs of malignancy. Interferon-gamma measurement and Koch Bacillus (BK) search by polymerase chain reaction (PCR) in the breast collection were all negative. The patient was put on non-specific antibiotics with no response and clinical worsening; therefore, we were obliged to start bacillary treatment. The evolution was marked by a total drought and the disappearance of inflammatory signs within a few weeks. Mammary tuberculosis poses a diagnostic issue given the difficulty to identify the bacteria in the samples. This is why tuberculosis should never be excluded despite negative results, especially in endemic countries.
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The incidence of lymphoma is constantly increasing worldwide. The reasons for this increase are unclear and likely multiple. B cell lymphomas represent the majority of non-Hodgkin lymphomas. Primary orbital localization remains a rare entity to think about in order to avoid missing a therapeutic emergency. In this article, we report the case of a 52-year-old man who has been treated for five years for an inflammatory orbitopathy with steroids, but the worsening of the clinical condition and the installation of exophthalmia led to push investigations and the outcome was a primary orbital lymphoma marginal zone type. The patient was treated by systemic chemotherapy with immunotherapy (RCHOP protocol) with a very good evolution and complete disappearance of the lesion after chemotherapy.
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Focal segmental glomerulosclerosis is a severe renal disease with a complex and unclear pathophysiology. Nephrotic syndrome is the clinical presentation of this renal disease. The recurrence of the disease after renal transplantation and the remission obtained after immune-adsorption treatment illustrate the implication of a circulating factor that requires characterization. Granulomatous inflammation is a tissue reaction caused by several conditions, including neoplastic diseases. In the literature, focal segmental glomerulosclerosis and granulomatous inflammation have both been associated with lymphoma. We report the case of a 56-year-old woman who initially developed focal and segmental glomerulosclerosis. After one year, the granulomatous inflammation was treated as tuberculosis infection and then as sarcoidosis. Finally, after another year, non-specified peripheral T-cell lymphoma was diagnosed.
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Despite high cure rates with frontline therapy for Hodgkin lymphoma (HL), approximately 30% of patients will relapse or develop primary refractory disease (R/r). Autologous hematopoietic stem cell transplantation (autoHSCT) is the standard of care for R/r disease, and allogeneic HSCT (alloHSCT) is a curative option for patients in second relapse. Novel agents are being incorporated for the treatment of R/r HL, such that the optimal timing of transplantation is currently being challenged. In this rapidly evolving field, we sought to offer a Canadian perspective on the optreatment of R/r HL and demonstrate the role and effectiveness of both autoHSCT and alloHSCT for the treatment of R/r HL. This single-center retrospective study examined outcomes in 89 consecutive patients with R/r HL treated with autoHSCT between January 2007 and December 2019. A total of 17 patients underwent alloHSCT either as a tandem auto-allo approach or as salvage therapy. With a median follow-up of 5.0 years, the estimated 5-year PFS and OS for patients undergoing autoHSCT were 57.5% (95% confidence interval [CI], 45.2% to 68.0%) and 81.3% (95% CI, 70.0% to 88.8%), respectively. Corresponding values for patients who underwent alloHSCT were 76.5% (95% CI, 48.8% to 90.4%) and 82.4% (95% CI, 54.7% to 93.9%). Nonrelapse mortality at 0% at 100 days and 9.4% at 5 years post-autoHSCT and 0% and 5.9%, respectively, post-alloHSCT. The cumulative incidence of acute graft-versus-host disease (GVHD) at day +100 was 35.3% (95% CI, 17.7% to 62.3%), and that of chronic GVHD at 1 year was 23.5% (95% CI, 6.9% to 45.8%). Both autoHSCT and alloHSCT provide robust and prolonged disease control New agents should be used as a bridge to improve the curative potential of these definitive cellular therapies.
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Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Doença de Hodgkin , Canadá/epidemiologia , Doença de Hodgkin/terapia , Humanos , Recidiva Local de Neoplasia , Estudos RetrospectivosRESUMO
Raynaud's phenomenon (RP) is a frequent syndrome and often indicative of connectivitis or hemopathy. The association with solid cancers is exceptional. We report the observation of a patient hospitalized for severe RP whose etiological assessment revealed the existence of colorectal cancer. We discuss, through this clinical case, the potential physiopathological links and underline the importance of looking for underlying cancer in the face of severe, refractory to treatment, or atypical RP.
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Retroperitoneal fibrosis is a rare disease manifesting as chronic soft tissue fibrosis in the retroperitoneum, with potential anatomic and/or functional compromise of adjacent organs. It can be primary (idiopathic) or secondary to other conditions such as cancers, radiotherapy, surgery, traumatisms, infections, autoimmune disorders, or drugs. We report herein a 54-year-old patient with symptomatic retroperitoneal fibrosis leading to bilateral hydronephrosis and renal failure, in whom, after a complex diagnostic workup and protracted clinical course, a follicular lymphoma in the retroperitoneal was identified. The patient was treated with rituximab and cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) chemotherapy protocol, with a resolution of hydronephrosis and lower back pain. We include a thorough literature review on etiopathogenesis, diagnosis, therapy, and prognosis of retroperitoneal fibrosis. A meticulous search for malignancy is necessary for this rare condition that, if positive, may have significant therapeutic and prognostic implications.
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Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder due to autoantibodies directed against nuclear and cytoplasmic antigens that may affect several different organs. The association of SLE and acute myeloid leukemia (AML) is rare, the incidence of this combination is not known, but there are few case reports in the literature. We report here the case of a 62-year-old woman, admitted for aetiological diagnosis of weight loss and severe anemic syndrome. The blood count has objectified a pancytopenia with lymphopenia. A thorough assessment was carried out following which a diagnosis of AML associated to SLE was retained. The patient received a low dose of cytarabine due to comorbidities and poor performance status associated with steroids and she died three months after diagnosis with a septic shock.
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Primary diffuse large B cell lymphoma of the conjunctiva is a rare disease. In this article, we report the case of a 40-year-old man who had previously been treated with chemotherapy and radiotherapy for undifferentiated carcinoma of nasopharyngeal type (UCNT) and who subsequently developed conjunctival lymphoma. We underline through this observation the importance of thinking about a secondary cancer post-radio-chemotherapy even when the clinical presentation is atypical.
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Acute spontaneous subdural hematoma is a rare clinical situation. Among its various etiologies, underlying coagulopathy is associated with a considerable risk of mortality. A 43-year-old female patient with no comorbidity and no personal or family history of bleeding disorders, consulted for acute and intense headache. The brain computed tomography (CT) scan showed a compressive left fronto-parietal acute subdural hematoma. The cerebral magnetic resonance angiography and routine hemostasis workup were normal. Factor XIII activity was low at 41% and the etiological investigation was consistent with the diagnosis of systemic lupus erythematosus. Surgical evacuation of the hematoma, factor XIII supplementation and systemic corticosteroid therapy with hydroxy chloroquine resulted in a favorable outcome. Acquired factor XIII deficiency should be systematically investigated for any acute spontaneous subdural hematoma with a normal hemostasis assessment in an adult with no personal or family history of hemorrhage.
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Deficiência do Fator XIII/diagnóstico , Hematoma Subdural Agudo/diagnóstico , Lúpus Eritematoso Sistêmico/diagnóstico , Adulto , Deficiência do Fator XIII/complicações , Feminino , Cefaleia/etiologia , Hematoma Subdural Agudo/etiologia , Hematoma Subdural Agudo/terapia , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/terapia , Angiografia por Ressonância Magnética , Tomografia Computadorizada por Raios XRESUMO
Skin involvement in Hodgkin's lymphoma (HL) is rare. The diagnosis can be difficult, mainly due to the wide range of cutaneous lesions that can be observed, but also due to the differential diagnosis, even after the immunohistochemical staining. We present the case of a 30-year-old man who presented with a painful cutaneous nodular lesion; biopsy and immunohistochemical stains were consistent with classic HL. The patient was treated with adriamycin, bleomycin, vinblastin, and dacarbazine (ABVD) with complete remission.
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Paraneoplastic syndromes (PNS) are conditions linked to the presence of tumors, most often malignant, without being the direct translation of a locoregional extension or distant metastases. They affect 10% to 15% of cancer patients, can appear before, after, or simultaneously with a cancer diagnosis, and primarily affect the nervous system, endocrine glands, and skin. The main tumors that provide PNS are lung cancer, gynecological tumors, and lymphomas. The diagnostic and therapeutic approaches are very heterogeneous due to the physiopathological specificities of each type of PNS. The main advances made in recent years have focused mainly on diagnostic tools, which have become more efficient in the diagnosis of PNS and underlying cancers.
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The diagnostic management of systemic granulomatosis is a difficult clinical exercise. The most frequent etiologies are tuberculosis and sarcoidosis. However, it is important to search as well for the other causes of granulomas, especially infections and malignancies, the prognosis of which can be poor without adequate treatment. A 67-year-old immunocompetent patient presented with granulomatous adenitis without caseous necrosis. The etiological evaluation had revealed neurological, pulmonary and lymph node systemic cryptococcosis. Conventional antifungal therapy with the triple combination Amphotericin B - Flucytosine - Fluconazole has not been effective, indicating administration of voriconazole. The evolution was rapidly favorable with apyrexia after 48 hours, disappearance of clinical symptoms, normalization of biological parameters of cerebrospinal fluid (CSF) and major improvement of radiological abnormalities. This clinical case is original by the disseminated involvement, the patient's non-immunocompromised status and the primary resistance to amphotericin B. Our findings underline the importance of carrying out an exhaustive evaluation, reflecting on cryptococcosis in any systemic granulomatosis and knowing the various therapeutic alternatives, in particular, voriconazole if primary response to amphotericin B has not been obtained.
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Primary hyperparathyroidism (PHP) is the most common cause of hypercalcemia. Patients with systemic lupus erythematosus (SLE) can develop hypercalcemia but it is exceptionally due to PHP. There are only few cases of concurrent SLE and primary hyperparathyroidism (PHP) described in the literature. We report a case of a 31-year-old patient having SLE with lupus nephritis class III and anti-phospholipid syndrome, complicated by pulmonary embolism associated to primary hyperparathyroidism causing severe hypercalcemia and osteoporosis. Even if there is no evidence for potential pathogenic association between PHP and SLE, the recognition of this association is very important because of therapeutic and prognostic impact. Early detection of PHP leads to avoid severe complications and significant morbidity.
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Hipercalcemia/diagnóstico , Hiperparatireoidismo Primário/diagnóstico , Lúpus Eritematoso Sistêmico/complicações , Embolia Pulmonar/diagnóstico , Adulto , Síndrome Antifosfolipídica/diagnóstico , Feminino , Humanos , Hipercalcemia/etiologia , Hiperparatireoidismo Primário/complicações , Nefrite Lúpica/diagnóstico , Osteoporose/etiologia , Embolia Pulmonar/etiologiaRESUMO
BACKGROUND: Biobanks are highly organized infrastructures that allow the storage of human biological specimens associated with donors' personal and clinical data. These infrastructures play a key role in the development of translational medical research. In this context, we launched, in November 2015, the first biobank in Morocco (BRO Biobank) in order to promote biomedical research and provide opportunities to include Moroccan and North African ethnic groups in international biomedical studies. Here, we present the setup and the sample characteristics of BRO Biobank. METHODS: Patients were recruited at several departments of two major health-care centers in the city of Oujda. Healthy donors were enrolled during blood donation campaigns all over Eastern Morocco. From each participant, personal, clinical, and biomedical data were collected, and several biospecimens were stored. Standard operating procedures have been established in accordance with international guidelines on human biobanks. RESULTS: Between November 2015 and July 2020, 2446 participants were recruited into the BRO Biobank, of whom 2013 were healthy donors, and 433 were patients. For healthy donors, the median age was 35 years with a range between 18 and 65 years and the consanguinity rate was 28.96%. For patients, the median age was 11 years with a range between 1 day and 83 years. Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. The BRO Biobank has collected 5092 biospecimens, including blood, white blood cells, plasma, serum, urine, frozen tissue, FFPE tissue, and nucleic acids. A sample quality control has been implemented and suggested that samples of the BRO Biobank are of high quality and therefore suitable for high-throughput nucleic acid analysis. CONCLUSIONS: The BRO Biobank is the largest sample collection in Morocco, and it is ready to provide samples to national and international research projects. Therefore, the BRO Biobank is a valuable resource for advancing translational medical research.