Disseminated histoplasmosis in primary Sjögren syndrome: A case report

BACKGROUND Sj?gren syndrome(SS)is a chronic and systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands.And histoplasmosis is an invasive mycosis caused by the saprophytic dimorphic fungus H.capsulatum.In patients with primary SS(PSS),disseminated histoplasmosis(DH)is extremely rare.CASE SUMMARY We report a 37-year-old female patient admitted to our hospital with exacerbating fatigue,somnolence,and pancytopenia as the main symptoms.She was eventually diagnosed with DH based on pancytopenia,splenomegaly,and findings of bone marrow smears.The atypical clinical symptoms made the diagnosis process more tortuous.Unfortunately,she died of respiratory failure on the day the diagnosis was confirmed.CONCLUSION We present a rare and interesting case of DH in a PSS patient.This case updates the geographic distribution of histoplasmosis in China,and expands the clinical manifestations of DH in PSS,highlighting the significance of constantly improving the understanding of PSS with DH.     

系统性红斑狼疮和原发性干燥综合征的共同基因表达特征和分子机制

目的  初步探究系统性红斑狼疮(systemic lupus erythematosus, SLE)和原发性干燥综合征(primary Sjögren’s syndrome, pSS)的共同基因表达特征和分子机制。方法  利用基因表达综合数据库(Gene Expression Omnibus, GEO)获取SLE和pSS基因表达数据集,进行加权基因共表达网络分析(weighted gene co-expression network analysis, WGCNA)和差异表达基因分析(differentially expressed genes, DEGs),初步确认SLE和pSS的共同关键基因和基因表达特征。结果  WGCNA和DEGs分析结果都显示SLE和pSS的共同基因主要富集在Ⅰ型干扰素(interferon, IFN)和病毒免疫相关的通路上(均有P＜0.05);分析得到9个关键基因,分别是ISG15、IFIT3、OASL、OAS2、SERPING1、GBP1、DDX60、XAF1和DDX58,其中大部分是Ⅰ型IFN相关基因。结论  研究结果提示SLE和pSS的共同基因表达特征主要与Ⅰ型IFN和病毒免疫相关基因以及通路有关,这为未来的机制研究提供了一定的参考。     

The subclavius posticus muscle: a factor in arterial, venous or brachial plexus compression

During dissection practice in 1993 and 1995 to 1999, we found an aberrant muscle which connected the first costal cartilage and the superior margin of the scapula in 12 sides (4.8%) of 11 cadavers (8.9%) among 248 sides of 124 cadavers. The muscle originated from the cranial surface of the sternal end of the first rib, ran laterodorsally, and inserted into the superior margin of the scapula. According to the origin and insertion, the aberrant muscle was considered to be the subclavius posticus (Rosenmüller, 1800). We also examined the supraclavicular region of a living subject by MR imaging to estimate the course of such an aberrant muscle. It is thought that the aberrant muscle runs on the anterior surface of the subclavian vein and crosses over the brachial plexus. Such a muscle could be considered as a possible factor causing the Paget-von Schrötter syndrome which is recognized as spontaneous or effort-related thrombosis of the axillo-subclavian vein. It is recommended to take into account the possible existence of such an aberrant muscle during the examination of patients with thoracic outlet syndrome, especially in those with symptoms of venous compression.     

Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature

BACKGROUNDAlström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the association between AS and Graves’ hyperthyroidism.CASE SUMMARYAn 8-year-old Chinese girl was diagnosed with AS. Two years later, Graves’ hyperthyroidism developed with progressive liver dysfunction. The patient’s clinical data were collected; DNA from peripheral blood of the proband, parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes. The association between the patient’s genotype and clinical phenotype was analyzed. She carried the pathogenic compound heterozygous mutation of ALMS1 (c.2296_2299del4 and c.11460C>A). These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSIONThe manifestation of hyperthyroidism may suggest rapid progression of AS.     

320. Paget-von Schr?tter-Syndrom

Zusammenfassung Das Krankheitsbild der Thrombose der Vena axillaris und der Vena subclavia wird anhand einer Kasuistik von 22 phlebographisch dokumentierten Fällen dargestellt. 13 Fälle wurden fibrinolytisch behandelt, 8 Patienten wurden mit Heparin-Marcumar behandelt und 1 Patient wurde operiert. Durch die Fibrinolyse ließ sich in 4 Fällen eine vollständige und in weiteren Fällen eine teilweise Rekanalisierung erreichen. Bei der Nachuntersuchung 2–12 Jahre nach dem akuten Ereignis waren abgesehen von der kosmetisch störenden Ausbildung von Collateralen und der Schwellneigung des betroffenen Armes alle Patienten beschwerdefrei.