Good / 中南大学学报(医学版)

A patient with thymoma associated immunodeficiency syndrome (Good's syndrome) and bronchiectasis was retrospectively analyzed. Good's syndrome is a rare condition of immunodeficiency that is characterized by thymoma and hypogammaglobulinemia. It is important to bear in mind that Good's syndrome should be included in the differential diagnosis When patients repeatedly visited for bronchiectasis or infection, we should alert to their immune state and history of thymoma. Early screening of immunological status and aggressive correction of immune deficiency are beneficial to improving the prognosis to patients with Good's syndrome.

Analysis of gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease / 南方医科大学学报

OBJECTIVE@#To investigate the molecular genetic mechanism of Charcot- Marie-Tooth (CMT) disease in a pedigree.@*METHODS@#Genomic DNA was extracted from the peripheral blood of the family members of a pedigree with autosomal dominant CMT disease, and 65 candidate genes of the proband were screened using target exon capture and the next generation sequencing, and the suspicious genes were verified using Sanger sequencing. PolyPhen-2, PROVEAN and SIFT software were used to predict the function of the mutant genes, and PyMOL-1 software was used to simulate the mutant protein structure.@*RESULTS@#A heterozygous missense mutation [c.371A>G (p.Y124C)] was detected in exon 3 of gene of the proband. This heterozygous mutation was also detected in both the proband's mother and her brother, but not in her father. Multiple sequence alignment analysis showed that tyrosine at codon 124 of GDAP1 protein was highly conserved. All the 3 prediction software predicted that the mutation was harmful. Molecular structure simulation showed a weakened interaction force between the amino acid residues at codon 124 and the surrounding amino acid residues to affect the overall stability of the protein.@*CONCLUSIONS@#The mutation of gene may be related to the pathogenesis of autosomal dominant AD-CMT in this pedigree. The newly discovered c.371A>G mutation (p.Y124C) expands the mutation spectrum of gene, but further study is needed to clarify the underlying pathogenesis.

PRMT6 expression in lung of COPD mouse model and its relationship with inflammatory gene expression / 中国医师杂志

Objective To explore the expression of protein arginine methyltransferases 6 (PRMT6) in chronic obstructive pulmonary disease (COPD) mouse model and its correlation with inflam mation gene interleukin 6 (IL-6) and cyclooxygenase 2 (COX-2).Methods Sixteen C57BL/8J mice were randomly divided into 2 groups:control group and cigarette smoke extract (CSE)-induced COPD group.Each group was injected intraperitoneally with phosphate-buffered saline solutions (PBS) or CSE at days 1,12,23 and measured lung function and collected lung tissue at day 29.The morphology change of the lung tissue was determined by hematoxylin and eosin (HE) stainning.The protein expression of PRMT6,H3R2me2a and H3K4me3 were detected in lung homogenates by Western-blotting.The mRNA expression of PRMT6,IL-6 and COX-2 were measured by quantitative real-time polymerase chain reaction (qRT-PCR).Results Comparing to control group,COPD group showed typical emphysema changes in the lung tissue,and significantly decreased lung function.The mRNA and protein expression of PRMT6 in the lung tissue of the mice with COPD were significantly decreased,following with the down-regulated signal level of H3R2me2a protein expression,while the increased level of IL-6 and COX-2 mRNA.Meanwhile,PRMT6 was negatively correlated with IL-6 and COX-2 mRNA expression.Conclusions PRMT6 was significantly reduced in CSE-induced COPD mouse model,following with decreased histone H3R2 dimethylation and increased H3K4 trimethylation,negatively correlating with inflammatory gene IL-6 and COX-2 transcription expression.PRMT6 downregulation may activate the transcriptional expression of inflammatory genes involved in the development of COPD,through the regulation of histone methylation level.

Clinical characteristics of histoplamosis in 8 patients: case report and literature review / 中南大学学报(医学版)

To explore the clinical characteristics, imaging manifestation, diagnosis and treatment for histoplasmosis and to improve therapeutic level, we retrospectively analyzed the clinical data of 8 patients with biopsy-confirmed histoplasmosis from 2004 to 2014 in the Second Xiangya Hospital of Central South University and reviewed relevant literatures. The main clinical symptoms of histoplasmosis included fever, cough, expectoration, chest pain, blood-stained sputum, lymphadenectasis, etc. The major lung imaging features were mass, node or pneumonia-like performance. No case was diagnosed as histoplasimosis firstly. Four patients whose imaging manifestations were focal pulmonary lesion received lobectomy of lung lesions or wedge resection. Clinical and imaging manifestations in 3 patients, who treated with amphotericin B or its liposomal, itraconazole or fluconazole, were improved. The clinical symptoms and imaging findings of histoplasmosis are nonspecific. It is easy for the physicians to misdiagnose histoplasmosis as bacterial infection, lung cancer, tuberculosis lymphoma, etc. Therefore, it is significant and necessary to carry out multiple biopsies combined with multiple etiological examinations for patients with difficult diagnosis.

Diagnosis and treatment for 2 cases of tuberous sclerosis complex with pulmonary lymphangioleiomyomatosis / 中南大学学报(医学版)

To improve the diagnosis and treatment for tuberous sclerosis complex (TSC) with pulmonary lymphangioleiomyomatosis, a retrospective analysis was performed based on the clinical data of 2 patients with such disease. Both of them have typical thin-walled cystic lesion throughout the lung field, renal angioleiomyolipoma, and various degrees of skin lesions. Central nervous system is involved in one patient. Lesions in the lung and kidney in one patient were improved significantly after 5 months of rapamycin treatment. The clinical phenotypes were diverse in TSC patients. The CT imaging showed typical characteristics when the lung was invaded by the tumor. When a patient was diagnosed as pulmonary lymphangioleiomyomatosis, we should pay attention to the clinical screening of TSC. Rapamycin is an effective and safe treatment for this disease.

Risk factors for pulmonary fungal infection associated with chronic obstructive pulmonary disease and clinical efficacy of itraconazole / 中国感染控制杂志

Objective To study the risk factors for pulmonary fungal infection associated with chronic obstructive pulmonary disease (COPD),and evaluate the efficacy and safety of itraconazole for treatment of pulmonary fungal infection associated COPD.Methods A retrospective analysis were conducted on clinical data of 42 COPD patients who were confirmed pulmonary fungal infection in a respiratory disease department from September 1 ,2007 to May 31 ,2012,and 53 COPD patients who had no pulmonary fungal infection were as control.Results Of 42 patients with COPD and pulmonary fungal infection,8 were confirmed by histopathological examination,34 were confirmed by clinical diagnosis;6 were acute cases,36 were chronic cases;28 were positive for fungal detection,6 of whom were detected Candida albicans ,13 were detected Aspergillus ,7 were detected unclassified fungi,and 2 had mixed fungal infection.Univariate analysis showed that underlying diseases,long-term use of broad-spectrum antimicrobi-als,long-term use of glucocorticoid,hypoproteinemia,invasive procedure,invasive mechanical ventilation,diabetes mellitus,history of invasive fungal infection were major risk factors for pulmonary fungal infection associated with COPD.After patients were treated by itraconazole,the improvement rate of clinical symptoms was 66.67%,fungal eradication rate was 60.71 %,total effective rate was 64.29%.Of 28 cases with positive fungal detection,the im-provement rate of clinical symptoms,fungal eradication rate,and total effective rate was 71 .43%(n=20),60.71 %(n=17),and 67.86%(n=19)respectively.Itraconazole had good therapeutic efficacy on acute and chronic pulmo-nary fungal infection associated with COPD.Adverse drug reaction rate was 23.81 %,most were mild and reversi-ble,and had no obvious impact on the treatment.Conclusion Itraconazole has positive clinical efficacy on treating pulmonary fungal infection associated with COPD,it is highly safe.

Treatment of pulmonary and retroperitoneal lymphangioleiomyomatosis with rapamycin: a case presentation and literature review / 中南大学学报(医学版)

To improve the diagnosis and treatment of pulmonary lymphangiomyomatosis, clinical data for the first successfully treated case of pulmonary and retroperitoneal lymphangiomyomatosis in our hospital has been comprehensively analyzed, and the relevant literature has been reviewed. A 45-year-old Han Chinese woman initially presented six months ago with increasing shortness of breath on exertion and was admitted to our hospital after four days of chest pain. Admission examination revealed chylothorax, interstitial lung disease, and enlarged retroperitoneal lymph nodes. The patient was finally diagnosed with pulmonary and retroperitoneal lymphangiomyomatosis based on laparotomy examination and biopsy of the retroperitoneal lymph nodes. After six months of rapamycin treatment, the symptoms - lung function, arterial blood gas, and imaging of the patient- were improved significantly. Pulmonary lymphangiomyomatosis clinically manifests as progressive dyspnea, recurrent pneumothorax, and chylothorax, and can be diagnosed by its characteristic features in high-resolution computed tomographic images or pathological examination. The successful treatment of pulmonary lymphangiomyomatosis with rapamycin brings new hope to those afflicted with this disease.