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1.
J Pak Med Assoc ; 74(9): 1707-1710, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39279084

RESUMO

Paediatric acute liver failure (PALF) is a rare yet severe condition that is associated with high mortality. Apart from liver transplant, no specific therapy exists, particularly in developing countries. Evidence suggests that removal of damage-associated molecular patterns, cytokines, toxins, and other metabolites that accumulate due to impaired liver function can enhance natural recovery. Plasmapheresis can be used to remove these products; however, there is limited evidence to support this approach. This case series discusses three critically ill patients with acute liver failure who underwent plasmapheresis. The patients included a seven-year-old boy (Case 1), a 17-year-old boy (Case 2), and a 16-monthold boy (Case 3). Two patients showed significant improvement in bilirubin level, coagulation profile, inotropes requirement, and Glasgow coma scale score. Unfortunately, one patient with PALF, complicated with multi-organ dysfunction, died due to refractory shock on the fourth day of hospitalisation. Our findings illustrate that early use of therapeutic plasmapheresis in PALF can lead to improvement in clinical outcome. It may serve as a bridging therapy for liver transplant and for the spontaneous regeneration of the patient's liver.


Assuntos
Falência Hepática Aguda , Plasmaferese , Humanos , Plasmaferese/métodos , Masculino , Falência Hepática Aguda/terapia , Adolescente , Criança , Lactente , Evolução Fatal , Resultado do Tratamento
2.
BMJ Case Rep ; 17(9)2024 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-39266023

RESUMO

Multidrug therapy has significantly reduced the global burden of Hansen's disease; however, complications from long-term treatment persist. A male resident of southern Kentucky, in his 30s and of Micronesian descent, presented with worsening abdominal pain associated with anorexia, fatigue, functional decline and occasional haemoptysis. He was compliant with multidrug therapy for leprosy. Laboratory investigations revealed pancytopenia. He was initially treated under a sepsis protocol and later switched to high-dose steroids due to a suspected immune reaction from missed corticosteroid doses. Despite aggressive treatment for refractory pancytopenia, the patient's condition deteriorated, and he passed away from cardiac arrest. Posthumous bone marrow biopsy revealed haemophagocytic lymphohistiocytosis secondary to disseminated histoplasmosis with bone marrow infiltration. This case highlights the importance of proactive fungal screening in immunocompromised leprosy patients, particularly in endemic regions, as early detection and timely intervention can prevent severe complications.


Assuntos
Histoplasmose , Linfo-Histiocitose Hemofagocítica , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Linfo-Histiocitose Hemofagocítica/etiologia , Histoplasmose/diagnóstico , Histoplasmose/complicações , Histoplasmose/tratamento farmacológico , Masculino , Adulto , Evolução Fatal , Hanseníase/complicações , Hanseníase/diagnóstico , Hanseníase/tratamento farmacológico , Hospedeiro Imunocomprometido
3.
BMJ Case Rep ; 17(9)2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39266029

RESUMO

Familial hyperinsulinaemic hypoglycaemia-1 arises from mutations within the genes of pancreatic beta cells, resulting in unregulated insulin secretion from pancreatic beta cells. A 4.06 kg female neonate, born to a second-degree consanguineously married couple, presented with repeated asymptomatic hypoglycaemia. There was a significant history of a previous sibling's death from nesidioblastosis. Despite treatment with intravenous glucose, diazoxide, hydrochlorothiazide and octreotide, she continued to experience hypoglycaemic episodes. Despite efforts to manage sepsis, including antibiotics, antifungals and intravenous immunoglobulin/granulocyte-macrophage colony-stimulated factor, her condition worsened. She succumbed on day 34. This case underscores the complexities of managing congenital hyperinsulinaemic hypoglycaemia, especially in the context of concurrent infections and the need for multidisciplinary care. Early genetic diagnosis proved invaluable in facilitating timely and effective treatment. Furthermore, the genetic results enabled us to counsel the parents regarding the recurrence risk in subsequent pregnancies and the necessity for antenatal diagnosis.


Assuntos
Hiperinsulinismo Congênito , Receptores de Sulfonilureias , Humanos , Feminino , Recém-Nascido , Receptores de Sulfonilureias/genética , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/diagnóstico , Mutação , Evolução Fatal , Hipoglicemia/genética , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Diazóxido/uso terapêutico
4.
BMJ Case Rep ; 17(9)2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39266034

RESUMO

Acute mesenteric ischaemia (AMI) is a life-threatening gastrointestinal complication uncommonly described in premature infants. The diagnosis of AMI is challenging and may be delayed due to the limitation of accurate diagnostic imaging and non-specific clinical signs. Furthermore, AMI can be misdiagnosed as necrotising enterocolitis (NEC) due to the overlapping clinical and radiological features. Though known to be associated with high mortality rates, early recognition and intervention can improve the survival rates in infants with AMI. We describe a case of a premature infant who presented with an acute abdomen and haemodynamic collapse, initially treated for NEC but later diagnosed with AMI intraoperatively. Due to the extensive bowel necrosis, surgical intervention was rendered futile and the infant finally succumbed to the disease.


Assuntos
Enterocolite Necrosante , Recém-Nascido Prematuro , Isquemia Mesentérica , Humanos , Enterocolite Necrosante/diagnóstico , Enterocolite Necrosante/cirurgia , Isquemia Mesentérica/diagnóstico , Isquemia Mesentérica/cirurgia , Isquemia Mesentérica/diagnóstico por imagem , Isquemia Mesentérica/etiologia , Diagnóstico Diferencial , Recém-Nascido , Evolução Fatal , Masculino , Doenças do Prematuro/diagnóstico , Abdome Agudo/etiologia , Doença Aguda
5.
BMJ Case Rep ; 17(9)2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39266041

RESUMO

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is an interstitial lung disease. In ACDMPV, respiratory impairment with severe pulmonary hypertension occurs from the early hours of life. Anomalies in the cardiovascular, gastrointestinal and genitourinary systems have been reported. However, little is known about upper airway abnormalities. We encountered a genetically diagnosed ACDMPV infant who presented with subglottic and bronchial stenosis. The prenatal diagnosis was hypoplastic left heart syndrome. Her respiratory condition worsened at 16 hours of life. We found subglottic stenosis when intubating. She died on day 7. Autopsy imaging with CT scan showed bilateral main bronchial stenosis. Chromosomal microarray revealed a 531 kb deletion in chromosome 16q24.1, including FOXF1.


Assuntos
Laringoestenose , Síndrome da Persistência do Padrão de Circulação Fetal , Alvéolos Pulmonares , Humanos , Feminino , Recém-Nascido , Síndrome da Persistência do Padrão de Circulação Fetal/complicações , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Laringoestenose/etiologia , Evolução Fatal , Alvéolos Pulmonares/anormalidades , Alvéolos Pulmonares/patologia , Constrição Patológica , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Fatores de Transcrição Forkhead
6.
Ned Tijdschr Geneeskd ; 1682024 08 13.
Artigo em Holandês | MEDLINE | ID: mdl-39228350

RESUMO

Group A-streptococcal (GAS) infection can lead to various clinical presentations and is fulminant when it reaches the deep tissues, leading to a high morbidity and mortality. The severity of postpartum GAS infections is widely known. In this case report we describe the course of disease in a pregnant patient with GAS toxic shock syndrome with initial complaints of abdominal pain, diarrhea and fetal demise at first presentation. Within 10 hours this patient died. It is important to stay vigilant for a fulminant GAS infection in pregnant patients, to recognize it quickly and treat it adequately.


Assuntos
Complicações Infecciosas na Gravidez , Choque Séptico , Infecções Estreptocócicas , Streptococcus pyogenes , Humanos , Gravidez , Feminino , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/microbiologia , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/complicações , Streptococcus pyogenes/isolamento & purificação , Evolução Fatal , Adulto , Choque Séptico/microbiologia , Morte Fetal
7.
J Med Case Rep ; 18(1): 424, 2024 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-39256774

RESUMO

BACKGROUND: Glioblastoma is a highly malignant disease with limited treatment options. Ibrutinib, a covalent Bruton tyrosine kinase inhibitor, is an oral agent with manageable side effects used for hematological diseases including Waldenström macroglobulinemia. We present the case of a 69-year-old Caucasian male patient treated with ibrutinib for suspected Bing-Neel syndrome (BNS), which following a biopsy, was reclassified as glioblastoma. CASE PRESENTATION: In December 2018, a 69-year-old Caucasian male patient was diagnosed with Waldenström macroglobulinemia. As the patient was asymptomatic, without bone marrow failure or high M-component count, watchful waiting was initiated. Due to increasing neurological symptoms, the patient, based on magnetic resonance imaging, was diagnosed with Bing-Neel syndrome in May 2019. The patient received different treatments before starting ibrutinib monotherapy in August 2019 due to disease progression, both on magnetic resonance imaging and clinically. The patient remained clinically stable for 7 months. In March 2020, the patient developed headaches, and both magnetic resonance imaging and a biopsy revealed glioblastoma IDH-wildtype. Treatment was changed in line with the new diagnosis, but the patient died at the end of 2020. CONCLUSION: We present a case in which a patient with glioblastoma IDH-wildtype remained clinically stable for 7 months when treated with ibrutinib monotherapy, which is similar to what would be expected for the standard treatment for glioblastoma. To our knowledge, this is the first patient receiving ibrutinib for a glioblastoma IDH-wildtype with a meaningful clinical outcome. Our case may therefore support previous nonclinical findings, indicating a therapeutic value of ibrutinib in patients with glioblastoma and support for further investigation of ibrutinib as a possible treatment for glioblastoma.


Assuntos
Adenina , Glioblastoma , Imageamento por Ressonância Magnética , Piperidinas , Macroglobulinemia de Waldenstrom , Humanos , Adenina/análogos & derivados , Adenina/uso terapêutico , Masculino , Glioblastoma/tratamento farmacológico , Glioblastoma/patologia , Idoso , Piperidinas/uso terapêutico , Macroglobulinemia de Waldenstrom/tratamento farmacológico , Evolução Fatal , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/secundário , Inibidores de Proteínas Quinases/uso terapêutico
8.
Nihon Shokakibyo Gakkai Zasshi ; 121(9): 754-762, 2024.
Artigo em Japonês | MEDLINE | ID: mdl-39261056

RESUMO

An 84-year-old woman underwent laparoscopic partial hepatectomy for a single 3.0-cm-diameter nodule of hepatocellular carcinoma at segment 5. Although the postoperative condition was uneventful, multiple recurrences were observed six months after hepatic resection. Transcatheter arterial chemoembolization (TACE) was the second-line therapy. However, she was later diagnosed as TACE refractory due to residual tumor and presence of portal vein tumor thrombus. Third-line therapy was the combination of atezolizumab and bevacizumab, which was discontinued after 22 courses due to disease progression. Two months after the conclusion of chemotherapy, sudden onset of purpura was observed around her eyes and on her lower legs. Laboratory tests revealed severe thrombocytopenia, and she was diagnosed with secondary immune thrombocytopenic purpura. Steroids and immunoglobulin therapy were then administered. Although the immature platelet fraction increased after treatment, the platelet count did not. The patient died of intracranial hemorrhage 10 days after initiation of steroid and immunoglobulin therapy.


Assuntos
Anticorpos Monoclonais Humanizados , Bevacizumab , Carcinoma Hepatocelular , Neoplasias Hepáticas , Púrpura Trombocitopênica Idiopática , Humanos , Feminino , Neoplasias Hepáticas/tratamento farmacológico , Idoso de 80 Anos ou mais , Bevacizumab/administração & dosagem , Bevacizumab/efeitos adversos , Anticorpos Monoclonais Humanizados/efeitos adversos , Anticorpos Monoclonais Humanizados/administração & dosagem , Carcinoma Hepatocelular/tratamento farmacológico , Evolução Fatal , Hemorragias Intracranianas/induzido quimicamente , Hemorragias Intracranianas/etiologia , Hemorragias Intracranianas/diagnóstico por imagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos
9.
Rinsho Ketsueki ; 65(8): 727-731, 2024.
Artigo em Japonês | MEDLINE | ID: mdl-39231699

RESUMO

A 72-year-old woman with relapsed FLT3-ITD-positive acute myeloid leukemia was treated with gilteritinib and achieved complete remission with incomplete hematological recovery. However, two months later, she developed optic nerve infiltration and lost vision in her right eye while maintaining hematological remission on gilteritinib. Intrathecal injection of cytotoxic drugs reduced the number of blasts in the cerebrospinal fluid (CSF), but her vision did not recover. At the onset of optic nerve infiltration, at a dose of 80 mg/day gilteritinib, the plasma trough and CSF levels of gilteritinib were 151.9 ng/ml and 1.9 ng/ml, respectively, with a central nervous system (CNS) penetration rate of 1.3%. Hematologic progressive disease (PD) was detected after 40 days, and the patient died one month later. Target sequencing at the time of hematologic PD revealed the FLT3 F691L mutation, which is known to confer resistance to gilteritinib. In this patient, pharmacokinetic (low CNS penetration of gilteritinib) and pharmacodynamic (acquisition of a drug resistance mutation) mechanisms were thought to be responsible for the CNS relapse and hematologic PD, respectively. We believe this is a valuable case to report considering the scarcity of data on CNS penetration of FLT3 inhibitors and their effects on CNS disease in the literature.


Assuntos
Compostos de Anilina , Leucemia Mieloide Aguda , Pirazinas , Recidiva , Tirosina Quinase 3 Semelhante a fms , Humanos , Tirosina Quinase 3 Semelhante a fms/genética , Leucemia Mieloide Aguda/tratamento farmacológico , Pirazinas/administração & dosagem , Pirazinas/uso terapêutico , Idoso , Feminino , Compostos de Anilina/uso terapêutico , Compostos de Anilina/administração & dosagem , Tiofenos/administração & dosagem , Tiofenos/uso terapêutico , Nervo Óptico/patologia , Mutação , Evolução Fatal
10.
BMJ Case Rep ; 17(9)2024 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-39237130

RESUMO

A relatively healthy male patient in his 60s presented with chest pain and shortness of breath in addition to a history of significant weight loss over the preceding months. He was admitted to the hospital and investigated with a CT pulmonary angiogram, which did not demonstrate a pulmonary embolus, but he subsequently went on to have an ultrasound and CT scan because of abnormal findings. His CT demonstrated some thickening of the mid-transverse colon, and, in addition, large volume liver metastases described as innumerable and probably replacing most of the liver.Initially, his liver function tests were only mildly deranged at the presentation. Flexible sigmoidoscopy was performed, and a transverse colonic malignancy was identified and biopsied, which demonstrated an extrapulmonary small cell carcinoma (EPSCC). He was admitted for urgent chemotherapy for newly diagnosed metastatic small-cell colonic cancer; he developed tumour lysis syndrome following his first dose of chemotherapy. He continued to decline following this and died soon after his admission. Metastatic small-cell colonic cancer is a rare diagnosis which is challenging to manage due to the lack of trial evidence to drive treatment strategies. The management largely follows the pulmonary small cell cancer pathway. We, therefore, present a colonic EPSCC case outlining the diagnostic and treatment strategies for this disease.


Assuntos
Carcinoma de Células Pequenas , Neoplasias Hepáticas , Humanos , Masculino , Evolução Fatal , Neoplasias Hepáticas/secundário , Neoplasias Hepáticas/patologia , Carcinoma de Células Pequenas/patologia , Carcinoma de Células Pequenas/diagnóstico , Carcinoma de Células Pequenas/secundário , Carcinoma de Células Pequenas/complicações , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/diagnóstico , Neoplasias Colorretais/patologia , Neoplasias do Colo/patologia
11.
Folia Med Cracov ; 64(1): 53-56, 2024 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-39254581

RESUMO

Herein we present the fatal case of premature baby with coincidence of extreme form of ectopia cordis and hypoplastic left heart structures.


Assuntos
Ectopia Cordis , Humanos , Ectopia Cordis/patologia , Ectopia Cordis/complicações , Recém-Nascido , Evolução Fatal , Síndrome do Coração Esquerdo Hipoplásico/complicações , Feminino , Masculino , Recém-Nascido Prematuro
12.
J Int Med Res ; 52(9): 3000605241272609, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39246065

RESUMO

The glomus tumor is a rare neoplasm that is typically found subungually in the extremities and functions as a specialized neurovascular organ. An extremely rare site for glomus tumors is the breast, with only a few reported cases. Breast glomus tumors present with three typical clinical signs: dull pain, focal tenderness, and cold sensitivity. Less than 10% of all glomus tumors are malignant. We herein present a case of a malignant glomus tumor originating in the breast. Distant metastasis was ruled out, and the tumor was completely resected. However, the patient unexpectedly developed rapid systemic metastasis, detected 5 weeks after tumor removal. Despite the administration of analgesics and targeted therapy, the patient died 1 month later. When treating patients with undiagnosed breast tumors, clinicians should pay attention to unexplained and repeatedly reported symptoms and consider the possibility of a rare disease. Our literature search revealed no cases of malignant glomus tumors originating in the breast, making this case the first of its kind.


Assuntos
Neoplasias da Mama , Tumor Glômico , Humanos , Tumor Glômico/patologia , Tumor Glômico/diagnóstico , Tumor Glômico/cirurgia , Feminino , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Neoplasias da Mama/diagnóstico , Pessoa de Meia-Idade , Evolução Fatal , Progressão da Doença
13.
BMC Pediatr ; 24(1): 564, 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-39237896

RESUMO

Two cases of neonatal splenic hemorrhage with acute cardiorespiratory failure are described in this report. The first case involves a full-term neonate who was found unresponsive without any witnesses and could not be successfully resuscitated. A postmortem diagnosis revealed a splenic hemorrhage. Second case is an extremely premature neonate who experienced a witnessed cardiovascular collapse on the 14th day of life. Rapid cardiovascular support was administered, resulting in a positive outcome. While splenic hemorrhage is commonly associated with traumatic events, these cases highlight the need of considering spontaneous splenic hemorrhages as a potential cause of acute neonatal compromise, even in the absence of birth-related trauma (e.g., asphyxia, prolonged labor, clavicle fractures, brachial plexus injuries). This report emphasizes the importance of including splenic hemorrhage timely in the differential diagnosis of neonatal cardiorespiratory instability, especially in the absence of more common diagnoses, and discusses the challenges associated with its recognition and treatment.


Assuntos
Hemorragia , Humanos , Recém-Nascido , Evolução Fatal , Hemorragia/etiologia , Hemorragia/diagnóstico , Masculino , Esplenopatias/complicações , Esplenopatias/etiologia , Feminino , Lactente Extremamente Prematuro , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/complicações , Insuficiência Respiratória/etiologia
14.
Artigo em Inglês | MEDLINE | ID: mdl-39240777

RESUMO

Mycobacterium abscessus complex (MAbc) is a rapidly growing nontuberculous mycobacterium that represents an increasingly prevalent cause of skin infections. This report describes an atypical presentation of MAbc to heighten physician awareness of the pathogen. A 69-year-old woman with immunocompromised status presented with a 4-month history of a solitary, nonhealing ulcer on her right lower extremity after an insect bite. After no improvement following oral amoxicillin/clavulanate and topical mupirocin for the initial diagnosis of cellulitis, biopsy and culture of the lesion revealed MAbc. Microscopic examination revealed reactive cutaneous inflammation without evidence of malignancy. Acid-fast bacteria (AFB) stain was negative, and no granulomas were noted histologically. Clarithromycin and doxycycline were initiated while awaiting susceptibility testing results. Final culture showed MAbc sensitive to amikacin, cefoxitin, and clarithromycin. Unfortunately, before antibiotic therapy could be modified, the patient died. The presentation of a solitary lower-extremity ulcer is rare compared with current literature. This case occurred after a suspected insect bite rather than instrumentation. In addition, this case demonstrated negative AFB stain and absence of granulomas on histologic analysis. The patient's death did not allow for evaluation of treatment efficacy. Existing literature characterizing MAbc is sparse. Most cases present as multiple papules, nodules, and abscesses with positive AFB staining and granulomas; it is possible for deviations to exist depending on host immune status. Considering the highly drug-resistant nature of M abscessus, prompt diagnosis and treatment are crucial. For this to occur, clinicians must maintain high clinical suspicion for M abscessus infection in any chronic, nonhealing wound failing to respond to initial treatment.


Assuntos
Hospedeiro Imunocomprometido , Infecções por Mycobacterium não Tuberculosas , Mycobacterium abscessus , Humanos , Idoso , Feminino , Infecções por Mycobacterium não Tuberculosas/diagnóstico , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Mycobacterium abscessus/isolamento & purificação , Dermatopatias Bacterianas/diagnóstico , Dermatopatias Bacterianas/microbiologia , Dermatopatias Bacterianas/tratamento farmacológico , Evolução Fatal , Antibacterianos/uso terapêutico
15.
Wiad Lek ; 77(8): 1627-1632, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39231336

RESUMO

Coronavirus disease (COVID-19), which broke out in China and caused a devastating pandemic worldwide, is associated with a significantly increased risk of thrombotic complications, especially pulmonary embolism. During the COVID-19 pandemic, investigations have reported a high incidence of venous thromboembolic (VTE) events in hospitalized patients with COVID-19, often despite thromboprophylaxis. Current recommendations for thromboprophylaxis are based on randomized clinical trials, which usually exclude patients at а potentially high risk of hemorrhagic complications. This category includes patients with liver cirrhosis complicated by variceal bleeding, thrombocytopenia, and coagulopathy. We present three patients who suffered severe covid pneumonia and were hospitalized with acute variceal bleeding, who developed fatal thromboembolic complications in the postoperative period.


Assuntos
COVID-19 , Hemorragia Gastrointestinal , Cirrose Hepática , Complicações Pós-Operatórias , Humanos , COVID-19/complicações , Varizes Esofágicas e Gástricas/etiologia , Evolução Fatal , Hemorragia Gastrointestinal/etiologia , Cirrose Hepática/complicações , Cirrose Hepática/cirurgia , Complicações Pós-Operatórias/etiologia , SARS-CoV-2 , Tromboembolia Venosa/etiologia
16.
Rinsho Ketsueki ; 65(8): 737-741, 2024.
Artigo em Japonês | MEDLINE | ID: mdl-39231701

RESUMO

Histiocytic sarcoma (HS) is a rare aggressive hematological malignancy reported to occur secondary to B cell lymphoma. We report a case of HS secondary to splenic marginal zone lymphoma (SMZL) complicated by autoimmune hemolytic anemia (AIHA) in a 64-year-old man. He was referred to our department with anemia and was diagnosed as having AIHA. After starting treatment with prednisolone, atypical lymphocytes appeared in his blood tests, and a bone marrow biopsy revealed invasion by B cell lymphoma. A CT scan showed splenomegaly and a pancreatic mass, which confirmed the diagnosis of SMZL. The patient received bendamustine and rituximab as chemotherapy, which rapidly improved the anemia and splenomegaly and reduced atypical lymphocytes. However, left lumbar back pain appeared along with an increase in the pancreatic mass, and he died suddenly of acute renal failure. An autopsy revealed that the tumor had invaded several organs including the pancreas, and immunohistochemistry was positive for CD163, leading to the diagnosis of HS. Furthermore, the specimens of SMZL and HS were positive for IgH gene reconstitution, and exome analysis showed genetic abnormalities in 226 genes including CARD11, suggesting that the SMZL and HS had the same origin.


Assuntos
Sarcoma Histiocítico , Linfoma de Zona Marginal Tipo Células B , Neoplasias Esplênicas , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Esplênicas/genética , Neoplasias Esplênicas/patologia , Neoplasias Esplênicas/diagnóstico , Linfoma de Zona Marginal Tipo Células B/genética , Linfoma de Zona Marginal Tipo Células B/patologia , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/tratamento farmacológico , Sarcoma Histiocítico/patologia , Sarcoma Histiocítico/genética , Sarcoma Histiocítico/diagnóstico , Sequenciamento do Exoma , Evolução Fatal
17.
Rinsho Ketsueki ; 65(8): 742-746, 2024.
Artigo em Japonês | MEDLINE | ID: mdl-39231702

RESUMO

Lomentospora prolificans is a rare filamentous fungus that causes invasive fungal disease (IFD) in immunocompromised patients with hematological malignancies, as well as hematopoietic cell or solid organ transplant recipients. A 75-year-old woman was diagnosed with acute myeloid leukemia, and started induction therapy with azacitidine and adjusted-dose venetoclax along with antifungal prophylaxis with fluconazole. On day 7, she became febrile and chest CT imaging showed multiple nodules in both lung fields, and the serum galactomannan antigen index became positive, indicating probable IFD. Anti-fungal therapy with liposomal amphotericin B was immediately initiated; however, the patient's condition rapidly deteriorated, and she died on day 15. L. prolificans was later identified in blood culture tests that had been repeatedly performed while she had been febrile. L. prolificans is generally resistant to most antifungal agents, which can make it fatal. As early definitive diagnosis is difficult, it may be appropriate to consider combination therapy when conventional anti-IFD therapy seems inadequate.


Assuntos
Azacitidina , Compostos Bicíclicos Heterocíclicos com Pontes , Leucemia Mieloide Aguda , Sulfonamidas , Humanos , Leucemia Mieloide Aguda/tratamento farmacológico , Idoso , Feminino , Azacitidina/administração & dosagem , Azacitidina/uso terapêutico , Sulfonamidas/administração & dosagem , Compostos Bicíclicos Heterocíclicos com Pontes/administração & dosagem , Compostos Bicíclicos Heterocíclicos com Pontes/uso terapêutico , Evolução Fatal , Antifúngicos/administração & dosagem , Antifúngicos/uso terapêutico , Quimioterapia de Indução , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Infecções Fúngicas Invasivas/tratamento farmacológico , Infecções Fúngicas Invasivas/diagnóstico , Micoses/tratamento farmacológico , Micoses/diagnóstico
18.
Clin Lab ; 70(9)2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39257111

RESUMO

BACKGROUND: Group A Streptococcus causes a variety of human infections, including the life-threatening necrotizing fasciitis, which may be ignored by the patient. From hours to days, the infection may progress from an apparently benign skin lesion, usually mistaken for a spider or insect bite, to a highly lethal disease. We present a case of 57-year-old male with skin lesions on swelling left upper limb. METHODS AND RESULTS: The culture of secretion from epidermis and blood were positive for Group A Streptococcus (GAS), type ß hemolytic streptococcus. Intensive anti-infection therapy was applied. However, the necrosis of the limb deteriorated rapidly. He died from multiple organ failure, streptococcal toxic shock syndrome (STSS) and disseminated intravascular coagulation 13 days later. CONCLUSIONS: Necrotizing fasciitis is a rapidly progressive, destructive bacterial infection. Early recognition is the most important factor for survival.


Assuntos
Fasciite Necrosante , Choque Séptico , Infecções Estreptocócicas , Streptococcus pyogenes , Fasciite Necrosante/diagnóstico , Fasciite Necrosante/microbiologia , Humanos , Masculino , Pessoa de Meia-Idade , Streptococcus pyogenes/isolamento & purificação , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/microbiologia , Infecções Estreptocócicas/tratamento farmacológico , Evolução Fatal , Choque Séptico/microbiologia , Choque Séptico/diagnóstico , Insuficiência de Múltiplos Órgãos/diagnóstico , Insuficiência de Múltiplos Órgãos/etiologia , Insuficiência de Múltiplos Órgãos/microbiologia , Antibacterianos/uso terapêutico , Coagulação Intravascular Disseminada/diagnóstico , Coagulação Intravascular Disseminada/microbiologia , Coagulação Intravascular Disseminada/etiologia
19.
F1000Res ; 13: 614, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39233782

RESUMO

Cerebral vasculitis is a rare but severe complication of Systemic Lupus Erythematosus (SLE), presenting significant challenges in management due to its potential for devastating neurological consequences and poor prognosis. We present a case of an 18-year-old female with known SLE who presented with seizures, declining cognitive function, and unresponsiveness. Neurological examination, laboratory investigations, and radiological imaging supported the diagnosis of cerebral vasculitis secondary to SLE. Despite aggressive immunosuppressive therapy, the patient's neurological status continued to deteriorate, leading to respiratory failure and multiorgan dysfunction. Ultimately, the patient succumbed to multiorgan failure attributed to severe CNS vasculitis and its complications. This case underscores the importance of early recognition and aggressive management of cerebral vasculitis in SLE while highlighting the need for further research into more effective therapeutic strategies to improve patient outcomes.


Assuntos
Lúpus Eritematoso Sistêmico , Vasculite do Sistema Nervoso Central , Humanos , Feminino , Adolescente , Lúpus Eritematoso Sistêmico/complicações , Vasculite do Sistema Nervoso Central/etiologia , Vasculite do Sistema Nervoso Central/complicações , Evolução Fatal
20.
Medicine (Baltimore) ; 103(22): e38383, 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-39259089

RESUMO

BACKGROUND: Nonalcoholic steatohepatitis (NASH) is an important etiology of hepatocellular carcinoma (HCC), and there is no established therapy for this syndrome. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD(NET)) is an extremely rare syndrome considered to be life-threatening, with death occurring around 10 years of age. We present the oldest known autopsy case of this syndrome that developed HCC. This case provided important information on not only improving the course of this syndrome, but also understanding the natural history and therapeutic modalities of NASH and HCC. METHODS: The patient was diagnosed with ROHHAD(NET) syndrome in childhood, and liver cirrhosis due to NASH was diagnosed at age 17. HCC was detected at age 20, and embolization and irradiation were performed. At age 21, she died from accidental acute pancreatitis and subsequent liver failure and pulmonary hemorrhage. RESULTS: Rapid onset of obesity, hypoventilation, and hypothalamic disturbance appeared in childhood and was diagnosed as this syndrome. At age 17, liver cirrhosis due to NASH was diagnosed by liver biopsy, and at age 20, HCC was diagnosed by imaging. Transarterial chemoembolization and irradiation were performed, and the HCC was well controlled for a year. CONCLUSION: At age 21, she died from accidental acute pancreatitis, subsequent liver failure and pulmonary hemorrhage. Autopsy revealed that the HCC was mostly necrotized. This case was valuable not only for other ROHHAD(NET) syndrome cases, but also in improving our understanding of the natural history of NASH and HCC.


Assuntos
Autopsia , Carcinoma Hepatocelular , Doenças Hipotalâmicas , Hipoventilação , Neoplasias Hepáticas , Hepatopatia Gordurosa não Alcoólica , Humanos , Feminino , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/terapia , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/complicações , Carcinoma Hepatocelular/terapia , Hipoventilação/etiologia , Hipoventilação/complicações , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/patologia , Doenças Hipotalâmicas/complicações , Doenças Hipotalâmicas/diagnóstico , Obesidade/complicações , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/patologia , Tumores Neuroendócrinos/terapia , Evolução Fatal , Adulto Jovem , Doenças do Sistema Nervoso Autônomo/etiologia , Síndrome
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