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Objective To summarize the prenatal diagnosis and genetic counseling of Turner syndrome fetuses with 46,X,i(X)(q10).Methods Two gravidas admitted to the Obstetrics and Gynecology Hospital of Dalian were enrolled in this study.One gravida,who was admitted in October 2016,was classified as high risk of Down syndrome based on prenatal serologic screening and systematic ultrasonography,which found remarkably shorter humeri and femora than fetus of the same gestations.The other was suggested to be monosomy X after non-invasive prenatal testing and admitted in November 2017.Fluorescence in situ hybridization (FISH) and karyotyping were performed for prenatal diagnosis.Peripheral blood karyotyping was also offered to the two women and their partners.Results FISH test for amniotic fluid did not find numerical abnormality in 13,18,21,and sex chromosomes in these two fetuses.Karyotype analysis showed that the two fetuses were both 46,X,i(X) (q10),while their parents were normal.Both cases were terminated after genetic counseling.Conclusions Prenatal serological screening,systematic ultrasonography and non-invasive prenatal testing may help to identify Turner syndrome fetus of 46,X,i(X) (q10).Timely and accurate prenatal diagnosis may prevent the affected fetus from being born.
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<p><b>OBJECTIVE</b>To delineate the nature and origin of chromosomal copy number variants (CNVs) in a boy with mental retardation and multiple congenital malformation.</p><p><b>METHODS</b>The karyotypes of the patient and his parents were analyzed with routine G-banded chromosomal analysis. Genome DNA was analyzed by next generation sequencing (NGS).</p><p><b>RESULTS</b>The patient was found to harbor a structural aberration involving chromosome 3p. The karyotype of his father was 46,XY,t(3;7)(p26;q31), while his mother was found to be normal. NGS analysis of the patient revealed a 2.16 Mb microdeletion at 3p26.3-pter and a duplication at 7q31.33-qter.</p><p><b>CONCLUSION</b>The structural aberration of 3p carried by the patient has derived from his father whom carried a balanced translocation of t(3;7), and his karyotype was finally determined as 46,XY,der(3) t(3;7)(p26.3;q31.33)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 3p26.3-pter microdeletion and 7q31.33-qter duplication.</p>
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Objective To investigate significance in changes in level of platelet monocyte aggregates (PMA) associated with acute respiratory distress syndrome (ARDS) in patients with sepsis and discuss the role of PMA in the genesis of ARDS in order to evaluate the its diagnostic value and the significance in the severity of damage of lung in patients with sepsis. Methods This study was carried out in the Guizhou Provincial People's Hospital and 123 sepsis patients admitted from July 2014 to December 2015 were enrolled according the 2012 ARDS Berlin diagnostic criteria. The patients were divided into ARDS group (n=62) and non-ARDS group (n=61). The ARDS group were further divided into 3 subgroups according to Berlin criteria, namely mild group (n=22), moderate group (n=21), and severe group (n=19). Of all patients, blood samples were collected to determine the level of PMA using fl ow cytometry (FCM) and the level of IL-6 using enzyme linked immunosorbent assay (ELISA) method. Acute physiology and chronic health status (APACHEⅡ)score in each group were recorded at admission. Comparisons of PMA, IL-6 and APACHE Ⅱ score were carried out among groups. Receiver operating characteristic (ROC) curve were used to evaluate the signifi cance and value of PMA in predicting ARDS. Results Compared with non-ARDS group, APACHE Ⅱ score, IL-6 level, PMA level in ARDS group were signifi cantly higher with statistically signifi cant differences (P<0.01). When the severity of ARDS increased, the level of each biomarker increased with statistically significant differences (P<0.01). Correlation analysis showed that peripheral blood PMA positively correlated with IL-6 (r=0.791, P<0.01) and APACHE Ⅱ score (r=0.641, P<0.01), while it negatively correlated with PaO2/FiO2(r=-0.857, P<0.01).Area under the ROC curve of PMA was 0.833 for predicting ARDS, and when the optimal cutoff value was 8.8%, the specifi city was 82%, and sensitivity was 71%, which were higher than those of APACHE Ⅱ score and IL-6. Conclusions The increase of PMA in patients with sepsis is closely associated with the severity of ARDS. The PMA has correlation with IL-6 and APACHE II, and it is superior to IL-6 and APACH II score for predicting ARDS. PMA can be used as an adjuvant indicator to judge the sepsis severity and to predict the occurrence of ARDS.
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Objective To explore the nursing effects of self-care body posture in patients after modified radical mastectomy. Methods The clinical data of 102 patients with modified radical mastectomy were randomly divided into the study group and the control group, all patients met the following standard:clear consciousness, effective communication, no paralysis of limbs, no fracture. In the study group, according to Orem"self-care theory" concept, patients carried out self-care body posture with mainly focus on self-emancipated and the body center of gravity position, in the control group patients were given traditional posture care with mainly emancipated assistance. The first time getting out-of-bed, the occurrence of various complications, the comfort level of emancipation and posture, as well as nursing satisfaction on the first day after surgery were observed and compared between the two groups. Results The two groups showed significant difference in the first time out-of-bed, anxiety, the comfort level of emancipation and posture, as well as nursing satisfaction. There was no significant difference between the two groups in dizziness, limb swelling, flap effusion, flap necrosis. No pressure ulcer occurred. Conclusions Making use of self-care body posture in patients after modified radical mastectomy can improve the satisfaction and comfort of the patients, and improve the patients' recovery, without increasing the complication, which is worth promoting.
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Objective:To screen neuroses in medical students and explore related factors.Method:Totally 1677 college students were screened by Neuroses Screener,who was positive(scored 2 or more)was investigated with Questionnaire on History of Neuroses and interviewed by psychiatrist.Psychiatric diagnosis was made if necessary according to CCMD-2-R.EPQ,EMBU and Quality of Life Scale were applied to all subjects.Multi-factor analysis was made.Results:Negative life events,unhealthy parentai education and neuroticism in EPQ were main factors influencing the incidence of neurosis.EPQ-E and warmth from parents had protective effect on occurrence of neurosis.Conclusion:Neuroticism is the basis of neurosis,unhealthy parental education and negative life events precipitate the occurrence of neurosis.Exorcism and warmth of parents have protective effect.