Neurosyphilis with oral­facial­lingual dyskinesia: A case report.

The present study describes the case of a 52-year-old male patient who presented with subacute onset dysarthria and oral-facial-lingual dyskinesia, with normal blood glucose and acanthocyte levels, and no history of drug use. The patient tested negative for autoimmune encephalitis-related antibodies and paraneoplastic-related antibodies. The level of cerebrospinal fluid (CSF) protein was slightly elevated, and the Treponema pallidum hemagglutination assay and rapid plasma reagin test were positive in both serum and CSF samples. After 1 month of treatment with doxycycline, the patient's oral-facial-lingual dyskinesia was significantly improved, suggesting the diagnosis of neurosyphilis.

Inhibition of TNF-α and JNK Signaling Pathway Can Reduce Paclitaxel-Induced Apoptosis of Mouse Cardiomyocytes.

Paclitaxel (PTX) is a widely used chemotherapeutic drug for treating tumors. However, studies have shown that it can cause cardiac problems such as arrhythmia, myocarditis, chronic cardiomyopathy, and heart failure. Therefore, it is essential to study the mechanism behind the cardiotoxicity of PTX in tumor treatment. In this study, we initially injected PTX into mice to establish a myocardial cell apoptosis model to observe the degree of damage to mouse myocardium caused by PTX. Upon determining the levels of mouse myocardial creatine phosphokinase (CK), myokinase isoenzyme (CK-MB), aspartate transaminase (AST), and lactate dehydrogenase (LDH), we found that all of these levels showed apparent increases in mice treated with PTX. Further analyses of the TNF-α level and the expression of Jun N-terminal kinase (JNK) and Bcl-2 family-related proteins in myocardial tissue were performed. It was found that PTX increased the protein levels of TNF-α, Bax, p-JNK, and JNK in myocardial tissue but decreased the protein level of Bcl-2. After 1 month of PTX treatment in mice, we inhibited the expression of TNF-α and JNK proteins, which reduced the effect of paclitaxel on the apoptosis of mouse cardiomyocytes. The protein levels of Bax, p-JNK, and TNF-α in cardiomyocytes were reduced, while there was a relative increase in the Bcl-2 protein level. The findings suggested that inhibition of the NK signaling pathway and TNF-α can lessen the effect of PTX on mouse cardiomyocytes.

Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes.

The aim of this study was to investigate causative mutations of two unrelated symptomatic Chinese children with dysfibrinogenemia and their family members.Fibrinogen genes, including FGA, FGB and FGG of all participants were PCR-amplified, followed by direct sequencing. Precipitated plasma fibrinogen of some family members was analyzed by western blotting, fibrin polymerization and scanning electron microscopy (SEM).Proband 1 associated with frequent epistaxis was identified to harbor a heterozygous Arg275Cys mutation in FGG, along with a polymorphism Arg448Lys in FGB. Proband 2 with apparently prolonged thrombin time and very low functional fibrinogen had undergone both spontaneous intracranial hemorrhages and deep venous thrombosis. Sequencing of all proximal promoters, coding regions, introns and 3'-untranslated region using genomic DNA of Proband 2 yielded no mutation in three fibrinogen genes. Western blotting of this patient's precipitated plasma fibrinogen detected no truncated protein. Fibrinogen polymerization curve showed prolonged lag phase and severely decreased final turbidity, and SEM observations of fibrin clots made from Proband 2 revealed an abnormal sponge-like mass with large pores. We speculate that other underlying mechanisms responsible for dysfibrinogenemia such as abnormal posttranscriptional processing or posttranslational modification, which are independent of detectable mutations in the genomic DNA sequence, may exist.

[Association of CCR2 gene rs1799864 polymorphism with hemophagocytic lymphohistiocytosis in children].

OBJECTIVE: To investigate the association between rs1799864 single nucleotide polymorphism (SNP) of the C-C chemokine receptor 2 (CCR2) gene and susceptibility of hemophagocytic lymphohistiocytosis (HLH) in children. METHODS: The clinical and laboratory data of 86 children diagnosed with HLH between January 2007 and December 2013 were retrospectively reviewed. The CCR2 gene rs1799864 was genotyped by SNaPshot technique in 86 HLH children and 128 healthy controls. The genotypic and allelic frequencies in the two groups were comparatively analyzed. RESULTS: No significant difference either in genotypic or allelic frequencies of rs1799864 polymorphism of the CCR2 gene was observed between HLH patients and controls (P>0.05), but there were significant differences in the age of onset and the periods of temperature and platelet returning to normal after treatment (P<0.05). CONCLUSIONS: There is no association between CCR2 gene rs1799864 polymorphism and the risk for HLH in children. However, the genotypic differences of this polymorphism might be associated with clinical characteristics and prognosis of HLH.

CD20 and Outcome of Childhood Precursor B-cell Acute Lymphoblastic Leukemia: A Meta-analysis.

CD20 is a B-cell differentiation antigen that is expressed variably in precursor B-cell acute lymphoblastic leukemia (BCP-ALL). The prognostic significance of CD20 expression in childhood BCP-ALL remains controversial. Some studies have demonstrated that CD20 overexpression correlates with worse survival in pediatric patients with BCP-ALL, but some other studies suggest a better outcome. To explore the prognostic role of high CD20 expression in pediatric BCP-ALL, we performed a meta-analysis of the previous studies that provided survival information according to CD20 expression status. Pooled hazard ratios (HRs) indicated that high CD20 expression had no inferior impact on the prognosis of pediatric BCP-ALL. The summary HR for overall survival was 0.70 and combined HR for event-free survival was 1.01. These findings suggest that high CD20 expression does not influence the outcome for pediatric BCP-ALL. CD20 may lack prognostic value in children with BCP-ALL.

[XIAP gene mutation screening in children with hemophagocytic lymphohistiocytosis].

OBJECTIVE: To investigate the prevalence of mutations and sequence variations in X-linked inhibitor of apoptosis (XIAP) gene among Chinese pediatric patients with hemophagocytic lymphohistiocytosis (HLH). METHODS: Sixty-five children who were diagnosed with HLH between January 2009 and December 2012 (case group), as well as 70 healthy children (control group), were enrolled in the study. The exons of XIAP gene (1-1, 1-2, 2-6) were amplified by PCR and directly sequenced. The genotypic and allelic frequencies of single nucleotide polymorphism (SNP) were analyzed. RESULTS: None of the HLH patients showed mutations in these exons of XIAP gene. Only one nonsynonymous SNP, rs5956583 located in exon 5, was observed, but there were no significant differences in the genotypic and allelic frequencies of this SNP between the case and control groups (P>0.05). CONCLUSIONS: HLH caused by XIAP mutations may be rare in children. SNP rs5956583 of XIAP gene may have little contribution to the development of childhood HLH.