10.3969/j.issn.1000-3606.2013.06.015

BACKGROUND: The important pathological changes of acute respiratory distress syndrome (ARDS) is disruption of the lung alveolar-capillary membrane barrier and resultant pulmonary edema associated with a proteinaceous alveolar exudate. Bone marrow mesenchymal stem cells (BMSCs) are able to carry on dividing and renewing themselves, and can eventually develop into many other types of cells. This provides a new treatment for treating injury of lungs.OBJECTIVE: To investigate the prevention of endotoxin-induced acute lung injury in rabbit by BMSCs.DESIGN, TIME AND SETTING: The randomized controlled animal study was performed at the Central Laboratory of Tangdu Hospital from October 2007 to January 2008.MATERIALS: A total of 20 rabbits were used in this study. Two rabbits were utilized to culture BMSCs. Eighteen rabbits were randomly assigned to three groups, saline control group, acute lung injury group and cell transplantation group (n = 6). Endotoxin was purchased from Sigma, USA.METHODS: Rabbit BMSCs were isolated and cultured by the Ficoll method. At the third passage, BMSCs were harvested for use.In the acute lung injury and call transplantation groups, endotoxin was infused into the trachea to establish models of acute lung injury/ARDS. Thirty minutes following model establishment, 2 mL BMSC suspension (1 x 105) was infused into the right jugular vein in the cell transplantation group. An equal volume of saline was injected into the saline control and acute lung injury groups.MAIN OUTCOME MEASURES: Number of neutrophilic granulocyte, wet to dry weight ratio of lung tissue, protein content and pathological changes in lung tissue in bronchoalveolar lavage fluid were measured.RESULTS: The increase in wet to dry weight ratio indicated the existence of pulmonary edema. The increase in neutrophilic granulocyte number suggested severe inflammatory reaction. The increased protein content showed the damage to lung alveolar-capillary membrane barrier. Following 48 hours of transplantation, neutrophilic granulocyte number and protein content in bronchoalveolar lavage fluid was significantly decreased (P < 0.01), and wet to dry weight ratio was significantly increased (P < 0.01) in the acute lung injury group compared with the saline control group. Compared with the acute lung injury group,neutrophilic granulocyte number and protein content was significantly increased (P < 0.01), and wet to dry weight ratio was significantly diminished (P < 0.01) in bronchoalveolar lavage fluid in the call transplantation group. Hematoxylin-eosin staining suggested that pulmonary alveoli was normal in the saline control group, presented typical acute lung injury in the acute lung injury group, and the pathological changes were mild in the cell transplantation group.CONCLUSION: BMSC transplantation can significantly reduce endotoxin-induced acute lung injury.

Objective To investigate the perioperative nursing for patients undergoing extracranial-intracranial bypass for treatment of Moyamoya disease.Methods Twenty-eight patients with Moyamoya disease who were refractory to maximal medical therapy were recruited in our hospital from March, 2011 to December, 2012, for extracranial-intracranial bypass surgery.Results For the twenty-eight patients with Moyamoya disease, twenty-three had improved in clinical symptoms after EC-IC bypass, the incidence of TIA and cerebral hemorrhage were reduced;postoperative aphasia occurred in four cases;one patient was comatose after operation and complicated with pneumonia.Under appropriate treatment and nursing,twenty-seven patients recovered in two weeks without complications like pneumonia or Deep Venous Thrombosis ( DVT ) .The only patient with complications recovered and was discharged in three weeks under careful nursing.Conclusions For Moyamoya disease patients undergoing EC-IC bypass surgery, timely and intensively perioperative nursing care, prevention and early management of complications, are the key factors of improving clinical outcome and ensuring patient recovery.

OBJECTIVE: To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease. METHODS: Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis. RESULTS: Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3). CONCLUSION The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.
Dyneins/genetics* ; Genomics ; Humans ; Infertility, Male/genetics* ; Male ; Mutation ; Sperm Tail/pathology* ; Whole Exome Sequencing

Objective:To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.Methods:A patient who had presented at the Henan Provincial People′s Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c. 853del (p.Ala285Leufs*24) and c. 1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c. 853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c. 1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.