RESUMO
Background: Scrub typhus, caused by the Orientia tsutsugamushi (Ot), is a widespread vector-borne disease transmitted by chigger mites. Hemophagocytic lymphohistiocytosis (HLH) is considered to be one of the potentially severe complications. The diagnosis of scrub typhus-associated HLH may be overlooked due to the non-specific clinical characteristics and the absence of pathognomonic eschar. Case presentation: We obtained clinical data from two patients in the South of Sichuan, China. The first case involved a 6-year-old girl who exhibited an unexplained fever and was initially diagnosed with sepsis, HLH, and pulmonary infection. The other patient presented a more severe condition characterized by multiple organ dysfunction and was initially diagnosed with septic shock, sepsis, HLH, acute kidney injury (AKI), and pulmonary infection. At first, a specific examination for scrub typhus was not performed due to the absence of a characteristic eschar. Conventional peripheral blood cultures yielded negative results in both patients, and neither of them responded to routine antibiotics. Fortunately, the causative pathogen Orientia tsutsugamushi (Ot) was detected in the plasma samples of both patients using metagenomics next-generation sequencing (mNGS) and further confirmed by polymerase chain reaction. Subsequently, they both were treated with doxycycline and recovered quickly. Conclusion: The unbiased mNGS provided a clinically actionable diagnosis for an uncommon pathogen-associated infectious disease that had previously evaded conventional diagnostic approaches.
Assuntos
Linfo-Histiocitose Hemofagocítica , Orientia tsutsugamushi , Tifo por Ácaros , Tifo por Ácaros/diagnóstico , Tifo por Ácaros/complicações , Humanos , Feminino , Criança , Orientia tsutsugamushi/isolamento & purificação , Orientia tsutsugamushi/genética , Linfo-Histiocitose Hemofagocítica/diagnóstico , China , Masculino , Doxiciclina/uso terapêuticoRESUMO
RATIONALE: The rare t(3;21)(q26;q22) translocation results in gene fusion and generates multiple fusion transcripts, which are typically associated with therapy-related myelodysplastic syndrome, acute myeloid leukemia, and chronic myelogenous leukemia. Here, we report a rare case of de novo acute myelomonocytic leukemia in a young child with t(3;21)(q26;q22). PATIENT CONCERNS: A 2-and-a-half-year-old female patient presented with abdominal pain, cough, paleness, and fever for 3 weeks, without any history of malignant diseases. DIAGNOSES: Chest computed tomography revealed pneumonia. Bone marrow smear confirmed acute myelomonocytic leukemia. Cytogenetic analysis and Sanger sequencing identified RUNX1-MECOM and RUNX1-RPL22 fusion genes as a result of t(3;21)(q26;q22). INTERVENTIONS: The patient received 3 courses of chemotherapy, but bone marrow smear examination showed no remission. According to the wishes of the patient family, the allogeneic hematopoietic stem cell transplantation (Allo-HSCT) was chosen. OUTCOMES: The patient did not experience any adverse reactions after Allo-HSCT. The red blood cells and platelets increased without transfusion. The pneumonia recovered after antibiotic treatment. LESSONS: The patient recovered well after Allo-HSCT. Therefore, for patients with RUNX1-MECOM and RUNX1-RPL22 fusion genes, transplantation may be a good choice when chemotherapy is not effective.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Leucemia Mielomonocítica Aguda , Pneumonia , Feminino , Humanos , Criança , Pré-Escolar , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Leucemia Mieloide Aguda/genética , Transplante de Células-Tronco Hematopoéticas/métodos , Translocação Genética , Pneumonia/genética , Cromossomos Humanos Par 21RESUMO
Microbial cultivation is the current gold standard for the clinical diagnosis of bacterial infections. However, this method sometimes produces false negative results. We present a case study of multisite Pseudomonas aeruginosa infections detected by metagenomic next-generation sequencing in a child with aplastic anemia, highlighting the rapid and accurate advantages of this technique.
Assuntos
Anemia Aplástica , Infecções por Pseudomonas , Anemia Aplástica/diagnóstico , Criança , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Metagenômica/métodos , Infecções por Pseudomonas/diagnóstico , Infecções por Pseudomonas/microbiologiaRESUMO
Neurotrophin 3 (NTF3) is a member of the nerve growth factor (NGF) family involved in cancer progression, including medulloblastoma and breast cancer. However, the expression and prognostic value of NTF3 has not been reported in human hepatocellular carcinoma (HCC). Here, we first performed an mRNA expression analysis of the NTF family using the TCGA database and found that NTF3 was significantly downregulated in patients with HCC. Low expression of NTF3 in various HCC cohorts from the GEO database was frequently identified. Consistently, NTF3 protein level was also decreased in HCC tissues as compared with controls. Moreover, survival analysis showed that low NTF3 expression correlated with shorter overall survival (OS) and disease-free survival (DFS) in HCC patients. In addition, there was a positive correlation between the mRNA expression of NTF3 and TrkC in HCC specimens. Generally, these results revealed that low expression of NTF3 predicted an unfavorable clinical outcome. NTF3 may be a diagnostic and prognostic marker in HCC.
