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BACKGROUND Coccidioidomycosis is endemic to the Sonoran life zone, which extends from Latin America to the western United States. The principle manifestation is pneumonia but disseminated disease also occurs. Venous thromboembolism occurring in association with this disease has not been reported. We encountered 5 cases of coccidioidomycosis, each complicated by pulmonary emboli, during a single year. We report these cases with the intent of making those caring for patients with coccidioidomycosis aware of this association. CASE REPORT A 35-year-old man developed fever and respiratory symptoms. He was initially treated with antibiotics as an outpatient and during a subsequent hospitalization. He was readmitted because of persistent respiratory symptoms and treated presumptively for coccidioidomycosis pneumonia. Hypoxemia persisted and multiple acute pulmonary emboli were evident on imaging. Serological study and organism identification confirmed a diagnosis of coccidioidomycosis infection. Details of this case and 4 additional cases are described. CONCLUSIONS Venous thromboembolism occurred in 5 patients with pulmonary coccidioidomycosis. The etiology of this rare association remains unclear but could be related to regional environmental changes that preceded the appearance of these cases.
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Coccidioidomicosis/diagnóstico , Neumonía/microbiología , Embolia Pulmonar/microbiología , Adulto , California , Disnea/etiología , Enfermedades Endémicas , Femenino , Fiebre/etiología , Humanos , Masculino , Persona de Mediana Edad , Embolia Pulmonar/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. CASE REPORT We present a case of gelsolin amyloidosis in a male of African descent with an atypical clinical presentation including fevers, skin rash, polyneuropathy, and anemia. Gelsolin amyloidosis was diagnosed based on mass spectrometry of tissue samples. Importantly, a novel mutation in the gelsolin gene (C1375G) in exon 10 was found in this patient. His atypical presentation can possibly be attributed to the presence of a novel mutation in the gelsolin gene as the likely underlying cause of the syndrome. PCR primers were used to amplify the gelsolin gene from genomic DNA. Purified PCR products were then shipped to Eton Biosciences (San Diego, CA) for sequencing. CONCLUSIONS This study carries several important lessons relevant to the practice of medicine. First, the differential diagnosis for multisystem disease presentations should always include amyloidosis. Second, despite what has been uncovered about the molecular biology of disease, there is always more that can be discovered. Finally, further work to verify the link between this mutation and the clinical syndrome is still needed, as are effective treatments for this disease.
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Amiloidosis/diagnóstico , Gelsolina/genética , Mutación , Amiloidosis/genética , Amiloidosis/metabolismo , ADN , Análisis Mutacional de ADN , Gelsolina/metabolismo , Humanos , Masculino , Persona de Mediana EdadRESUMEN
UNLABELLED: Anaplastic large cell lymphoma (ALCL) is a rare hematological malignancy and a distinct subtype of mature T-cell lymphomas. ALCL is comprised of two clinically distinct but morphologically similar sub-class under 2008 WHO classification: cutaneous and systemic. Primary systemic ALCL is further sub-categorized into tumors that carry the anaplastic lymphoma kinase (ALK) gene rearrangement or not; ALK-positive versus ALK-negative disease respectively. Traditionally, both forms of primary systemic ALCL have been treated upfront with an anthracycline based combination chemotherapy such as CHOP. More recently an antibody drug conjugate, brentuximab-vedotin (BV), directed against CD30 antigen has shown promise in CD30 expressing hematologic malignancies such as Hodgkin's lymphoma and ALCL. At the present time, this novel antibody-drug conjugate has been approved in the treatment of patients with ALCL after failure of at least one prior multi-agent chemotherapy regimen in the United States. We present a case describing a previously healthy 48 year-old female diagnosed with ALK-negative ALCL who achieved complete response with upfront single agent brentuximab-vedotin. It is the first case described in the literature utilizing BV in the first line setting particularly in a patient with multi-organ failure and critically ill at time of diagnosis. This case highlights the full potential that targeted therapies can exert over hematological malignancies while also minimizing treatment related toxicities. ABBREVIATIONS: AE: adverse event; ALCL: anaplastic large cell lymphoma; ALK: anaplastic lymphoma kinase; ASCT: autologous stem cell transplant; BEAM: BCNU/carmustine, etoposide, ara-C, and melphalan; BV: brentuximab vedotin; CHEOP: cyclophosphamide, daunorubicin, vincristine, prednisone, etoposide; CHOP: cyclophosphamide, doxorubicin, vincristine, prednisone; CR:complete response; G3+: grade 3 or higher; MTD: maximum tolerated dose; ORR: overall response rate; OS: overall survival; PFS: progression-free survival.
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Inmunoconjugados/uso terapéutico , Linfoma Anaplásico de Células Grandes/tratamiento farmacológico , Insuficiencia Multiorgánica/tratamiento farmacológico , Quinasa de Linfoma Anaplásico , Brentuximab Vedotina , Enfermedad Crítica , Supervivencia sin Enfermedad , Femenino , Orden Génico , Humanos , Linfoma Anaplásico de Células Grandes/patología , Persona de Mediana Edad , Insuficiencia Multiorgánica/etiología , Proteínas Tirosina Quinasas Receptoras/genética , Tasa de Supervivencia , Resultado del TratamientoRESUMEN
Extramammary Paget's disease (EMPD) is a rare intraepithelial malignancy arising in areas rich in apocrine glands, such as the perineum, vulva, axilla, scrotum, and penis. We describe the case of a man in his 50s who initially presented with a small eczematous lesion on his right groin, treated with topical ointments for eczema, until excisional biopsy of lesion unequivocally revealed invasive EMPD. Despite aggressive surgical interventions, his disease progressed to involve the scrotum and penis. Deemed unresectable, the patient was treated with systemic chemotherapy with minimal response. The rarity of EMPD, especially of the penis and scrotum, warrants an educated eye and heightened index of suspicion when dealing with eczematous lesions in the groin in any person. Early biopsy and histological examination is crucial for early surgical intervention of the lesions. There are no guidelines available to treat locally advanced unresectable disease. In addition, further studies are needed to identify genetic defects underlying the pathogenesis of this rare disease, to help improve treatment strategies and decrease morbidity.
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A 21-year-old male presented to the emergency department after a 5-day history of recurrent vomiting and decreased urine output. History revealed ingestion of ibuprofen. During the diagnostic workup, the following was identified: white blood cell count 13.4 (×10(3)/mcL), hemoglobin 11.9 (×10(6)/mcL) with an MCV of 73 fL, hematocrit 34% and platelets were 31,000/mcL, sodium of 130 mmol/L, potassium of 5.1 mmol/L, chloride of 83 mmol/L, bicarbonate of 21 mmol/L, blood urea nitrogen of 184 mg/dL and creatinine of 19.1 mg/dL. He was later diagnosed with thrombotic thrombocytopenic purpura (TTP) based on the fact that he presented with most components of the TTP pentad (except for fever), which included altered mental status, acute kidney injury, thrombocytopenia, and evidence of red cell fragmentation and his ADAMTS13 level was found to be less than 10% prior to therapy. The patient then received plasma exchange, oral corticosteroids, and hemodialysis, which led to a full recovery of platelet count and renal function.