Exophthalmos, low back pain and hypertension: a report of one case with literature review / 中华风湿病学杂志

Objective By analyzing the clinical manifestations and pathologic features of Erdheim-Chester's disease (ECD) to improve the recognition of the disease.Methods The clinical characteristics,diagnosis and treatment of a young male with ECD were reported and the related literature was reviewed.Results A previously healthy young male patient with bilateral exophthalmos,blurred vision of right eye,polyuria and hypertension without obvious causes for nine months were admitted into our hospital.He developed low back pain two months ago.Thoracic vertebra Magnetic resonance imaging (MRI) showed multiple nodules extending from the 2th-7th thoracic vertebrae intra-medullary.MRI of the brain showed multiple masseswith abnormal intensities within the retro-ocular intraconal muscle cone,sellar and cavernous sinus,maxillary sinus.Biopsy specimens from the right orbital lesion demonstrated proliferation of fibrous connective tissue and fat tissue infiltrating with lymphocytes,plasma cells,eosinophils,foam cells,spindle cells,and multinucleated giant cells accompanied by fat necrosis.Immunohistochemistry showed infiltrated lymphocytes stained positive for CD68,CD20,CD3,LCA and negative for CD1a,S-100 protein and langerin.The clinical symptoms of exophthalmos and low back pain relieved after treated with methylprednisolone and interferon-α.Conclusion Understanding the characteristics of ECD can help to make the correct diagnosis and treatment.

Clipping of anterior communicating artery aneurysms via supraorbital keyhole approach from the side of non-dominant A1 / 国际脑血管病杂志

ObjectiveTo investigate the surgical method, experience, and skills in clipping anterior communicating artery aneurysm (ACoAA) via supraorbital keyhole approach.MethodsThe ACoAA case data of selectively clipping via non-dominant supraorbital keyhole approach according to the A2 open plane formed by the anterior communicating artery and the bilateral A2 segments were analyzed retrospectively.The surgical method and experience were analyzed.The indications and advantages and disadvantages of this method were summarized.ResultsACoAA in 12 patients were completely clipped via supraorbital keyhole approach from the side of non-dominant A1, and the dominant A1 segment arteries were well exposed.The patients were followed up for 4-29 months after procedure.No recurrence or rupture of the aneurysms was found.The Glasgow Outcome Scale score was 5 in 11 patients and 4 in 1 patient.Conclusions ACoAA can be completely clipped via supraorbital keyhole approach from the side of non-dominant A1.It is a minimally invasive surgical approach with good efficacy.

Mutation analysis of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis children / 中华肾脏病杂志

Objective To analyze and identify the mutations of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis (rdRTA) children,and study the association of genotype and phenotype. Methods Genome DNA was amplified by PCR.Mutations of ATP6V0A4 and ATP6V1B1 gene in 3 children from 3 families were examined by direct sequencing.One hundred unrelated healthy subjects were selected to evaluate all mutations found in this study. Results A novel homozygous nonsense mutation was identified in ATP6VOA4 gene in one child, and a novel heterozygous nonsense variant and a frame-shift alteration were found in another child.No mutation of both genes was found in the third child.Conclusions Study of mutant genes of rdRTA in Chinese patients is helpful to understand the association in genotype and phenotype and increase the level of cognition and treatment to this disease.