Angioimmunoblastic T-cell Lymphoma Mimicking Systemic Lupus Erythematosus: A Case Report and Literature Review.

Objective: This study aimed to investigate the clinical features of angioimmunoblastic T-cell lymphoma (AITL) mimicking systemic lupus erythematosus (SLE) and raise awareness about AITL among rheumatologists in order to prevent misdiagnosis and missed diagnosis. The study reports on a case of AITL mimicking SLE and provides a literature review. Methods: Using key words as search terms, relevant articles published in PubMed before 2022-05 were searched, and their clinical characteristics were collected and analyzed. Results: The literature review retrieved six case reports, including four cases initially diagnosed with SLE and then with AITL. The other two case diagnoses were SLE and AITL, respectively. The two diseases are pathogenically associated and share some common features. The clinical manifestations of AITL are complex. The disease is closely associated with abnormal immune functions and is highly heterogeneous. Conclusion: Patients with AITL generally have a poor prognosis. Rarely do reported cases show AITL mimicking SLE. AITL should be considered during clinical practice to prevent missed diagnoses or misdiagnoses.

Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect.

Hemophagocytic lymphohistiocytosis is an extremely rare occurrence during pregnancy. Early recognition of its signs and symptoms is critical for early intervention, and delays in diagnosis may be life-threatening. A 23-year-old nulliparous woman presented with a persistent fever as high as 39°C with bilateral edema of the lower limbs at 24 weeks of gestation. Typical laboratory findings included pancytopenia, high triglycerides, ferritin, transaminases, bilirubin, and hypoproteinemia. Active systemic lupus erythematosus was diagnosed using an autoimmune work-up and a Systemic Lupus Erythematosus Disease Activity Index 2000 score of 17 points. Her bone marrow aspirate revealed prominent hemophagocytosis; hence, HLH was confirmed. Genetic tests showed mutations in Syntaxin 11 mutations. Considering the potential impact of drugs on the fetus, the patient and her family members chose to terminate the pregnancy through medical induction of labor. Afterwards, her condition improved with immunosuppressive therapy.

Gout of the axial joint-A patient level systemic review.

OBJECTIVE: Gout is the osteoarticular expression of hyperuricemia, resulting from excessive production and/or insufficient elimination of uric acid. Emerging case reports described the deposition of mono sodium urate in the spine as a rare manifestation of gout, we aimed in revealing the full picture of reported axial joint gout (AJG). METHODS: We performed a systemic patient level review focused on characteristics of reported cases of axial joint involvement in gout. RESULTS: A total of 127 studies (142 cases) were identified as axial joint gout. Most of the cases were reported by neurosurgeons and orthopedic surgeons (19.7% and 17.6%, respectively),low back and neck pain and weakness of limbs were presented in 113 cases, most of the cases (77.5%) were diagnosed via operation or aspiration. Although CT and MRI was the most popular imaging method, 8 cases underwent DECT avoided surgery had marked improvement. CONCLUSIONS: The incidence of AJG was underestimated and the IAJG exist independent of peripheral arthritis. AJG should be suspected when back pain and neurological involvement occurred in the risky populations. DECT would be a promising technique to initiate the earlier intervention complimentary to invasive procedures or operations.

Retrospective analysis of the risk of hemorrhage associated with moderate and severe thrombocytopenia of 173 patients with systemic lupus erythematosus.

The aim of the study was to observe the risk of hemorrhage from moderate and severe thrombocytopenia in systemic lupus erythematosus (SLE).A retrospective analysis was undertaken of cases admitted to Qilu Hospital, China. Blood platelet counts (BPCs) of ≤20 × 10/L represent severe thrombocytopenia, and a BPC of 21 to 50 × 10/L indicates moderate thrombocytopenia. A comparison was made from the perspective of severity with a view to determine the influence of thrombocytopenia on the risk of hemorrhage and the results.Moderate and severe thrombocytopenia occurred in 173 cases, accounting for 15.2% of the total hospitalized patients with SLE with a male to female ratio of 1:23.7. The average age of those patients was 34.8 ±â€Š14.6 years. In the group of severe thrombocytopenia, patients without visceral involvement had a mean age of onset of 31.4 ±â€Š14.2 years with a median of 28.0 years compared with 37.8 ±â€Š14.8 years with a median of 38.5 years for patients with visceral involvement; this difference was statistically significant (P = .034). Seventy-one (76.3%) of 93 patients with severe thrombocytopenia and 20 (25.0%) of 80 patients with moderate thrombocytopenia developed hemorrhagic conditions of various grades, the difference between both were markedly statistically significant. Twenty-three patients with SLE died. Nine deaths were due to a hemorrhage caused by thrombocytopenia, while more were caused by infection.Severe thrombocytopenia is a significant adverse prognostic factor of SLE. SLE with the main manifestation of thrombocytopenia tends to make younger visceral organ owners suffer.

Relationship Between Clinical and Immunological Features with Magnetic Resonance Imaging Abnormalities in Female Patients with Neuropsychiatric Systemic Lupus Erythematosus.

BACKGROUND: Conventional magnetic resonance imaging (MRI) is the preferred neuroimaging method in the evaluation of neuropsychiatric systemic lupus erythematosus (NPSLE). The purpose of this study was to investigate the association between clinical and immunological features with MRI abnormalities in female patients with NPSLE, to screen for the value of conventional MRI in NPSLE. METHODS: A total of 59 female NPSLE patients with conventional MRI examinations were enrolled in this retrospective study. All patients were classified into different groups according to MRI abnormalities. Both clinical and immunological features were compared between MRI abnormal and normal groups. One-way analysis of variance was used to compare the systemic lupus erythematosus disease activity index (SLEDAI) score for MRI abnormalities. Multivariate logistic regression analysis investigated the correlation between immunological features, neuropsychiatric manifestations, and MRI abnormalities. RESULTS: Thirty-six NPSLE patients (61%) showed a variety of MRI abnormalities. There were statistically significant differences in SLEDAI scores (P < 0.001), incidence of neurologic disorders (P = 0.001), levels of 24-h proteinuria (P = 0.001) and immunoglobulin M (P = 0.004), and incidence of acute confusional state (P = 0.002), cerebrovascular disease (P = 0.004), and seizure disorder (P = 0.028) between MRI abnormal and normal groups. In the MRI abnormal group, SLEDAI scores for cerebral atrophy (CA), cortex involvement, and restricted diffusion (RD) were much higher than in the MRI normal group (P < 0.001, P = 0.002, P = 0.038, respectively). Statistically significant positive correlations between seizure disorder and cortex involvement (odds ratio [OR] = 14.90; 95% confidence interval [CI], 1.50-151.70; P = 0.023) and cerebrovascular disease and infratentorial involvement (OR = 10.00; 95% CI, 1.70-60.00; P = 0.012) were found. CONCLUSIONS: MRI abnormalities in NPSLE, especially CA, cortex involvement, and RD might be markers of high systemic lupus erythematosus activity. Some MRI abnormalities might correspond to neuropsychiatric manifestations and might be helpful in understanding the pathophysiology of NPSLE.

TPH2 gene polymorphisms and bipolar disorder: A meta-analysis.

BACKGROUND: Disturbance of the serotonergic system contributes to the etiology of bipolar disorder (BD). Tryptophan hydroxylase-2 (TPH2) is an important rate-limiting enzyme in the synthetic pathway for brain serotonin and has been suggested to play a role in BD. MATERIALS AND METHODS: We performed a systematic review and meta-analysis of all studies to date investigating the association studies between TPH2 and BD published before Aug 2014. All studies were abstracted from PubMed, Embase, HuGNet, and China National Knowledge Infrastructure (CNKI). Manuscripts and the supplementary documents of published genome-wide association studies in the field were also included. Effect sizes of independent loci that have been studied in more than three articles were synthesized using fixed and random effects models. RESULTS: Eight eligible studies addressed association between 63 TPH2 gene single nucleotide polymorphisms (SNPs) with BD, after linkage disequilibrium analysis, 12 independent SNPs were identified. Finally, three SNPs (rs4760820, rs11178998, and rs7954758) were found associated with BD using fixed effects models, and rs4760820 and rs11178998 were still associated with BD even with the more conservative random effects models. CONCLUSIONS: rs4760820 and rs11178998 were identified to have strong genetic association with BD in present study though confirmation will require larger sample sizes and in additional populations.

Association between interleukin-6 gene polymorphisms and rheumatoid arthritis in Chinese Han population: a case-control study and a meta-analysis.

The aim of this study was to investigate the possible association in the interleukin-6 (IL-6) gene with Rheumatoid arthritis (RA) in Chinese Han population from Shandong Province. Target regions of IL-6 gene were amplified by polymerase chain reaction (PCR) and genotyped. A logistic regression analysis was performed to detect potential associations in our case-control sample, the odd ratio(OR) and 95% confidence intervals(CIs) were calculated. Furthermore, we systematically tracked all the published studies in the field and performed a meta-analysis for the single nucleotide polymorphisms (SNPs) under study. 256 RA patients and 331 healthy controls were recruited into the case-control study. We found allele frequencies of rs1800795, rs1800797 and rs1474347 in RA patients differ from control subjects (P = 0.016, 0.024, 0.020, respectively). Significant difference was observed in haplotype frequencies of GCCGCT between RA patients and controls (P = 0.0001, OR = 4.066, 95%CI = 1.891 ~ 8.746), while GGCGCT frequencies was found lower in RA than controls (P = 0.006, OR = 0.669, 95%CI = 0.501 ~ 0.894). The results of the meta-analysis showed association polymorphism within the IL-6 promoter with RA. These findings suggest that rare IL-6 gene polymorphisms may associate with RA susceptibility in Han Chinese populations; however further studies are needed to assess the validity of the association of IL-6 with RA.

TPH2 gene polymorphisms and major depression--a meta-analysis.

BACKGROUND: Tryptophan hydroxylase-2 (TPH2) is the rate-limiting enzyme in the synthetic pathway for brain serotonin and is considered key factor for maintaining normal serotonin transmission in the central neuron system (CNS). Gene-disease association studies have reported a relationship between TPH2 and major depressive disorder (MDD) in different populations, however subsequent studies have produced contradictory results. OBJECTIVES: We performed a systematic overview and a meta-analysis with all available data up-to-date. METHODS: We scrutinized PubMed, Embase, HuGNet and China National Knowledge Infrastructure (CNKI ) and last update was held on October 2011. We also searched the manuscripts and the supplementary documents of the published genome-wide association studies in the field. Effect sizes of independent loci that have been studied in more than 3 articles were synthesized using fixed and random effects models. RESULTS: We found 27 eligible articles that studied a total of 74 single nucleotide polymorphisms (SNPs). Finally, 12 independent loci were included in the meta-analysis. The synthesis of the data shown that two SNPs (rs4570625 and rs17110747) were associated with MDD using fixed effects models. SNP rs4570625 had low heterogeneity and remained significant using the more conservative random effects calculations with a summary OR = 0.83 (95% CI: 0.73-0.96). CONCLUSION: The current study identified a SNP (rs4570625) with strong epidemiological credibility; however more studies are required to provide robust evidence for other weak associations.

Local literature bias in genetic epidemiology: an empirical evaluation of the Chinese literature.

BACKGROUND: Postulated epidemiological associations are subject to several biases. We evaluated whether the Chinese literature on human genome epidemiology may offer insights on the operation of selective reporting and language biases. METHODS AND FINDINGS: We targeted 13 gene-disease associations, each already assessed by meta-analyses, including at least 15 non-Chinese studies. We searched the Chinese Journal Full-Text Database for additional Chinese studies on the same topics. We identified 161 Chinese studies on 12 of these gene-disease associations; only 20 were PubMed-indexed (seven English full-text). Many studies (14-35 per topic) were available for six topics, covering diseases common in China. With one exception, the first Chinese study appeared with a time lag (2-21 y) after the first non-Chinese study on the topic. Chinese studies showed significantly more prominent genetic effects than non-Chinese studies, and 48% were statistically significant per se, despite their smaller sample size (median sample size 146 versus 268, p < 0.001). The largest genetic effects were often seen in PubMed-indexed Chinese studies (65% statistically significant per se). Non-Chinese studies of Asian-descent populations (27% significant per se) also tended to show somewhat more prominent genetic effects than studies of non-Asian descent (17% significant per se). CONCLUSION: Our data provide evidence for the interplay of selective reporting and language biases in human genome epidemiology. These biases may not be limited to the Chinese literature and point to the need for a global, transparent, comprehensive outlook in molecular population genetics and epidemiologic studies in general.