To investigate the clinical and immunological features of dermatomyositis (DM) complicated with macrophage activation syndrome (MAS). The demographic and clinical characteristics of five patients diagnosed with DM complicated with MAS hospitalized in the Department of Rheumatology and Immunology, Peking University People ' s Hospital from 2011 to 2021 were collected. The results of clinical manifestations, laboratory tests, immunological features, treatments and prognosis were analyzed and summarized. In this study, five female patients in Peking University People's Hospital with an average age of 63.8 (44.0-83.0) years and an average disease duration of 16.1 (1.5-48.0) months. All the patients had typical DM rash (such as heliotrope sign, V/shawl sign or Gottron's sign/papules). They all had muscle involvement (including myalgia or muscle weakness). Two patients had positive myositis-specific antibodies (MSAs), in which case 1 had anti-TIF1-γ antibody and case 5 had anti-NXP-2 antibody. Four patients had interstitial lung disease except case 3. All of the cases developed MAS in the active stage of DM. Common manifestations of MAS in these five patients included high-grade fever, cytopenia, decreased fibrinogen, elevated ferritin and increased soluble CD25. Case 1 presented with neutropenia (0.6×10⁹ /L), thrombocytopenia (26.0×10⁹ /L), hypofibrinogenemia (0.9 g/L), markedly elevated ferritin (26 331.0 μg/L), decreased NK cell activity. Case 2 had anaemia (hemoglobin 81.0 g/L), thrombocytopenia (55.0×10⁹ /L), hypertriglyceridemia (4.7 mmol/L), hypofibrinogenemia (1.2 g/L), elevated ferritin (>100 000.0 μg/L), hemophagocytosis in bone marrow. Case 3 had anaemia (hemoglobin 88 g/L), decreased fibrinogen (1.9 g/L), increased ferritin (>27 759.0 μg/L), splenomegaly, hemophagocytosis in bone marrow. Case 4 suffered from neutropenia(0.3×10⁹ /L), anaemia(hemoglobin 78 g/L), hypertriglyceridemia (4.2 mmol/L), hypofibrinogenemia (0.9 g/L), increased ferritin (>100 000.0 μg/L), and decreased NK cell activity. Case 5 presented anaemia (hemoglobin 60.0 g/L), thrombocytopenia (67.0×10⁹ /L), hypertriglyceridemia (12.7 mmol/L), decreased fibrinogen (1.1 g/L), and elevated ferritin (>923.0 μg/L). All the patients were treated with methylprednisone pulse therapy (200-500 mg) combined with cyclosporine while case 5 received rituximab after methylprednisone pulses. In addition, case 3 also received the combination of mycophenolate mofetil. Case 1 was given etoposide while case 4 was treated with cyclophosphamide and repeated plasmapheresis at the same time. Moreover, intravenous immunoglobulin was added meantime apart from case 3. The condition of four patients improved significantly, nevertheless case 4 experienced recurred pulmonary symptoms and died of respiratory failure. As for complications about infection, case 2 had bacterial infection with high level procalcitonin (PCT) before MAS treatment and condition was improved after empiric antibacterial therapy. Case 3 had cytomegalovirus DNAemia before diagnosis of MAS and viral titer turned negative after ganciclovir therapy. After treatment of MAS, four patients developed cytomegalovirus DNAemia except case 3, in which case 5 was co-infected with bacteria. To sum, DM complicated with MAS is relatively rare, and its patients are of ten in life-threatening condition. Early detection, treatment and prevention of infection during treatment are critical to improve the prognosis.
Humans ; Female ; Middle Aged ; Dermatomyositis/complications* ; Macrophage Activation Syndrome/complications* ; Afibrinogenemia/complications* ; Autoantibodies ; Neutropenia ; Thrombocytopenia/complications* ; Ferritins/therapeutic use* ; Hypertriglyceridemia/complications* ; Fibrinogen/therapeutic use*

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence ; Developmental Disabilities ; diagnosis ; genetics ; Fingers ; abnormalities ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Microcephaly ; diagnosis ; genetics ; Muscle Hypotonia ; diagnosis ; genetics ; Mutation ; Myopia ; diagnosis ; genetics ; Neutropenia ; complications ; genetics ; psychology ; Obesity ; diagnosis ; genetics ; Psychomotor Disorders ; diagnosis ; etiology ; genetics ; Retinal Degeneration ; diagnosis ; genetics ; Vesicular Transport Proteins ; genetics

The causes of cytopenia in patients with severe fever with thrombocytopenia syndrome (SFTS) are not fully understood until now. We reviewed the bone marrow (BM) findings of patients with SFTS to unravel the cause of the cytopenia. Three Korean SFTS were enrolled in this study. Thrombocytopenia, neutropenia, and anemia were detected in all three patients. Severe hypocellular marrow (overall cellularity <5%) and a decreased number of megakaryocytes were noted in one patient, and hypo-/normocellular marrow and an increased number of hemophagocytic histiocytes were observed in two patients. Megakaryocytes were relatively preserved in two patients. Although a limited number of cases are available, our observations suggest that both BM suppression and peripheral destruction or sequestration are causes of cytopenia of patients with SFTS. To the best of our knowledge, this is the first well documented pathologic evaluation of Korean SFTS.
Aged ; Aged, 80 and over ; Bone Marrow/*pathology ; Female ; Fever/*complications ; Histiocytes/*pathology ; Humans ; Male ; Middle Aged ; Neutropenia/complications ; Pancytopenia/complications ; Syndrome ; Thrombocytopenia/*complications/*immunology

OBJECTIVETo explore the clinical efficacy for treatment of patients with peripheral T cell lymphoma (PTCL) by HyperCVAD and CHOPCHOP-like protocols.

METHODSA total of 97 patients with peripheral T cell lymphoma were divided into observation group (50 cases) and control group (47 cases). The patients in observation group were treated by HyperCVAD, and the patients in the control group were treated by CHOP/CHOP-like protocol. The clinical efficacy, accumulate survival rate and side effect of the 2 groups were compared.

RESULTSThe remission rate in the observation group were higher than that in control group (P < 0.05); The PFS rate (1 year) in observation group was higher than that in control group (P < 0.05); the PFS rate (2 years, 3 years) was not significantly different (P > 0.05). The OS rate (1 year, 2 years, 3 years) did not show difference (P > 0.05); the number of patients with neutropenia in observation group was higher than that in control group (P < 0.05); the levels of CD4(+) CD45RA(+), CD4(+) CD45RO(+) in observation group were lower than those in control group (P < 0.05); the levels of CD4(+) and CD4(+)/CD8(+) in observation group was lower than those in control group (P < 0.05); the level of CD8(+) in observation group was higher than that in control group (P < 0.05); the incidence of pneumonia, cardiotoxicity, severe anemia, and thrombopenia were not significantly different (P > 0.05).

CONCLUSIONHypeCVAD protocol shows good clinical effects on the patients with peripheral T cell lymphoma, displaying a high remission rate and PFS rate (1 year), but it has a high incidence of neutropenia, thus it needs more attention in clinic.

Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Cyclophosphamide ; therapeutic use ; Dexamethasone ; therapeutic use ; Doxorubicin ; therapeutic use ; Humans ; Lymphoma, T-Cell, Peripheral ; drug therapy ; Neutropenia ; complications ; Prednisone ; therapeutic use ; Remission Induction ; Survival Rate ; Treatment Outcome ; Vincristine ; therapeutic use

BACKGROUND/AIMS: Chronic hepatitis C (CHC) is a major comorbidity in patients with hemophilia. However, there are no published data on the efficacy of antiviral therapy in Korea. We assessed the safety and efficacy of combination therapy with peginterferon alpha-2a plus ribavirin for CHC in hemophilia. METHODS: Patients (n=115) were enrolled between March 2007 and December 2008. Seventy-seven patients were genotype 1 or 6, and 38 patients were genotype 2 or 3. We evaluated rapid virologic responses (RVRs), early virologic response (EVRs), end-of-treatment response (ETRs), sustained virologic response (SVRs), and relapses. Safety evaluations included adverse events and laboratory tests. RESULTS: Eleven patients were excluded from the study because they had been treated previously. Among the remaining 104 treatment-naive patients, RVR was achieved in 64 (60.6%), ETR was achieved in 95 (91.3%), and SVR was achieved in 89 (85.6%). Relapse occurred in eight patients (8.9%). Common adverse events were hair loss (56.7%) and headache (51.0%). Common hematologic adverse events were neutropenia (22.1%), anemia (27.9%), and thrombocytopenia (3.8%). However, there were no serious adverse events such as bleeding. RVR was the only predictor of SVR in multivariate analysis. CONCLUSIONS: Peginterferon alpha-2a plus ribavirin combination treatment produced a favorable response rate in CHC patients with hemophilia without serious adverse events.
Adult ; Aged ; Antiviral Agents/adverse effects/*therapeutic use ; Drug Therapy, Combination ; Fatigue/etiology ; Female ; Genotype ; Headache/etiology ; Hemophilia A/*complications ; Hepacivirus/genetics ; Hepatitis C, Chronic/complications/*drug therapy/virology ; Humans ; Interferon-alpha/adverse effects/*therapeutic use ; Liver/pathology ; Male ; Middle Aged ; Neutropenia/etiology ; Polyethylene Glycols/adverse effects/*therapeutic use ; RNA, Viral/blood ; Recombinant Proteins/adverse effects/therapeutic use ; Recurrence ; Republic of Korea ; Ribavirin/adverse effects/*therapeutic use ; Treatment Outcome

OBJECTIVETo observe the clinical characteristics of infections in adult acute leukemia （AL）patients during chemotherapy in hospital, and identify the risk factors for infections.

METHODSA retrospective study of patients with AL who underwent chemotherapy between July 2010 and Dec 2014 in the First Affiliated Hospital of Xiamen University was conducted. Clinical features and risk factors for infections were analyzed.

RESULTS191 patients with AL received a total of 728 courses of chemotherapies. During these admissions, 385（52.9%) infections episodes occurred. The common infections sites were lower respiratory tract infection（36.3%，153/374）, bloodstream infection（17.1%, 64/374）, oral infection（13.6%，51/374）, and perianal infection（13.4%, 50/374）. 164 strains of pathogenic bacteria were detected. Gram- negative bacteria were recorded in 59.1% of documented pathogens, and Gram- positive bacteria were responsible for 32.9% of infections. Multivariate unconditioned logistic analysis of factors identified consistent independent risk factors for no completely remission（OR=0.142, P< 0.001）, duration of neutropenia longer than 7 days（OR=12.764, P<0.001）, general wards（OR=1.821, P< 0.001）, and hospitalization interval longer than 10 days（OR=0.720, P=0.039）.

CONCLUSIONInfections after chemotherapy for AL continues to be common. AL patients with induction chemotherapy or severe neutropenia faced an increased risk of infections by multivariate analysis. And patients with short-term stay or laminar flow wards seem to be less susceptible to infections.

Acute Disease ; Bacterial Infections ; complications ; Gram-Negative Bacteria ; Gram-Positive Bacteria ; Hospitals ; Humans ; Leukemia ; complications ; drug therapy ; microbiology ; Multivariate Analysis ; Neutropenia ; complications ; Remission Induction ; Retrospective Studies ; Risk Factors

We assessed the success rate of empirical antifungal therapy with itraconazole and evaluated risk factors for predicting the failure of empirical antifungal therapy. A multicenter, prospective, observational study was performed in patients with hematological malignancies who had neutropenic fever and received empirical antifungal therapy with itraconazole at 22 centers. A total of 391 patients who had abnormal findings on chest imaging tests (31.0%) or a positive result of enzyme immunoassay for serum galactomannan (17.6%) showed a 56.5% overall success rate. Positive galactomannan tests before the initiation of the empirical antifungal therapy (P=0.026, hazard ratio [HR], 2.28; 95% confidence interval [CI], 1.10-4.69) and abnormal findings on the chest imaging tests before initiation of the empirical antifungal therapy (P=0.022, HR, 2.03; 95% CI, 1.11-3.71) were significantly associated with poor outcomes for the empirical antifungal therapy. Eight patients (2.0%) had premature discontinuation of itraconazole therapy due to toxicity. It is suggested that positive galactomannan tests and abnormal findings on the chest imaging tests at the time of initiation of the empirical antifungal therapy are risk factors for predicting the failure of the empirical antifungal therapy with itraconazole. (Clinical Trial Registration on National Cancer Institute website, NCT01060462)
14-alpha Demethylase Inhibitors/adverse effects/therapeutic use ; Adolescent ; Adult ; Aged ; Antifungal Agents/adverse effects/*therapeutic use ; Aspergillosis/complications/*drug therapy ; Candidiasis/complications/*drug therapy ; Coccidioidomycosis/complications/drug therapy ; Febrile Neutropenia/complications/drug therapy ; Female ; Hematologic Neoplasms/complications/drug therapy/*microbiology ; Humans ; Itraconazole/adverse effects/*therapeutic use ; Male ; Mannans/blood ; Middle Aged ; Prospective Studies ; Treatment Outcome ; Young Adult

This study was purposed to evaluate the diagnostic value of procalcitonin (PCT), C-reactive protein, interleukin-6 (IL-6), serum amyloid A (SAA) for bacteremia in patients with hematologic malignancy combined with febrile neutropenia. The total of 297 patients with hematologic malignancy combined with febrile neutropenia were analyzed retrospectively from 1253 patients admitted to West China hospital of Sichuan University from March 2011 to October 2012. They were divided into sepsis group (n = 95) and non-sepsis group (n = 202) according to blood culture. The results showed that the levels of PCT, CRP, IL-6 and SAA in sepsis group were higher than those in non-sepsis group, and there was statistically significant difference between these two groups (P < 0.05). The PCT had an AUC value of 0.974 (P < 0.05), and obviously higher than that of CRP (AUC = 0.681, P < 0.05), IL-6 (AUC = 0.661, P < 0.05) and SAA (AUC = 0.605, P < 0.05). When PCT had cut-off value of 1.06 ng/ml, sensitivity of 95.8%, specificity of 92.1%, and the Youden indicator of 0.879, the negative and positive predictive values were 97.8% and 85.0% respectively, the negative and positive likelihood ratios were 0.05 and 12.5 respectively, and all significantly higher than that of CRP, IL-6 and SAA. It is concluded that for patients with hematologic malignancy combined with febrile neutropenia and bacterial infection, the diagnostic value of serum PCT is superior to that of immune inflammatory factors (CRP, IL-6 and SAA), the PCT can predict the bacterium infection, provide laboratory evidence for rational antimicrobial drug usage and mortality reduction.
Adult ; Bacteremia ; diagnosis ; etiology ; C-Reactive Protein ; metabolism ; Calcitonin ; blood ; Calcitonin Gene-Related Peptide ; Febrile Neutropenia ; complications ; microbiology ; Female ; Hematologic Neoplasms ; complications ; microbiology ; Humans ; Interleukin-6 ; blood ; Male ; Middle Aged ; Protein Precursors ; blood ; Retrospective Studies ; Serum Amyloid A Protein ; metabolism

Pseudomembranous necrotizing bronchial aspergillosis (PNBA) is a rare form of invasive aspergillosis with a very poor prognosis. The symptoms are non-specific, and the necrotizing plugs cause airway obstruction. Atelectasis and respiratory failure can be the initial manifestations. Recently, we treated an immunocompromised patient with PNBA, who presented with a sudden onset of atelectasis and acute respiratory failure. There were no preceding signs except for a mild cough and one febrile episode. Bronchoscopy revealed PNBA, and Aspergillus nidulans was cultured from the bronchial wash.
Adult ; Female ; Humans ; Immunocompromised Host ; Invasive Pulmonary Aspergillosis/*complications/*diagnosis ; Leukemia, Myeloid, Acute/complications ; Neutropenia/complications ; Pulmonary Atelectasis/*etiology ; Respiratory Insufficiency/*etiology

We evaluated risk factors for neutropenic fever and febrile prolonged neutropenia during vincristine-including chemotherapy to treat HIV-related lymphoma to investigate whether protease inhibitor (PI) treatment is associated with infectious complications due to drug interactions with chemotherapeutic agents. We included all HIV patients who received chemotherapy including vincristine for lymphoma at a single referral center in 1999-2010. Neutropenic fever was defined as absolute neutrophil count < 500 cells/microL with body temperature over 38degrees C; and prolonged neutropenia was defined if it persisted over 7 days. CODOX-M/IVAC and Stanford regimens were considered high-risk regimens for prolonged neutropenia. We analyzed 48 cycles of chemotherapy in 17 HIV patients with lymphoma. There were 22 neutropenic fever and 12 febrile prolonged neutropenia events. In multivariate analysis, neutropenic fever was associated with old age and low CD4 cell count, but not with PI use or ritonavir-boosted PI use. Low CD4 cell count and high-risk regimens were associated with febrile prolonged neutropenia. Neutropenic fever and febrile prolonged neutropenia is associated with old age, low CD4 cell count, and high-risk regimens, but not PI use, in HIV patients undergoing chemotherapy including vincristine for lymphoma.
Adult ; Age Factors ; Antineoplastic Agents, Phytogenic/*therapeutic use ; Body Temperature ; CD4 Lymphocyte Count ; Fever/*etiology ; HIV Infections/complications ; Humans ; Lymphoma, AIDS-Related/complications/*drug therapy/pathology ; Male ; Middle Aged ; Multivariate Analysis ; Neutropenia/*etiology ; Retrospective Studies ; Risk Factors ; Vincristine/*therapeutic use