Genetic analysis of a gonadal-mosaicism BMD family with prenatal diagnosis and PGT-M / 中华检验医学杂志

Objective:To identify the pathogenic characteristics of a suspected gonadal mosaicism Becker muscular dystrophy (BMD) family, and provide provide basis for pregnancy selection of similar families.Methods:A BMD family admitted to Hunan Jiahui Genetics Hospital from June 2012 to September 2019 was systematically reviewed. The medical history and family history of the proband were checked, and multiplex ligation-dependent probe amplification was used to detect the deletion/duplication of 79 exons of the Duchenne muscular dystrophy (DMD) gene in the proband, fetuses, and parents. Moreover, potential variants were verified by combining PCR amplification, short tandom repeat polymorphic linkage analysis, and real-time fluorescence quantitative PCR. High-quality embryos are screened for transplantation after preimplantation genetic testing for monogenic (PGT-M). And amniotic fluid was collected in the second trimester for prenatal diagnostic verification.Results:According to the phenotype analysis of the proband, the initial clinical diagnosis was BMD, and the exon 45-50 deletion in DMD gene was detected. The mutation was not detected in the mother′s peripheral blood, but when she was pregnant again, the prenatal diagnosis showed that the fetus had the same deletion mutation as the proband. Neither of two vitro embryos tested by PGT-M has the deletion mutation, then single embryo transfer was performed nor was pregnancy successful. After confirmation of prenatal diagnosis during pregnancy, a normal baby girl was born by full-term cesarean section.Conclusions:This BMD family was a family with two consecutive BMD homodeletion mutations, and the mutation of the DMD gene was not detected in the peripheral blood of the proband′s mother and two embryonic cells, suggesting that the mother may be a gonad chimeric carrier of this deletion mutation. The combined application of prenatal diagnosis and PGT-M provides a reference approach to effectively avoid the birth of similar children.

The high frequency ultrasonographic features of rectus diastasis and their relationships with the modes of delivery in postpartum women / 中华超声影像学杂志

Objective:To investigate the multi-sites high frequency ultrasound features of rectus diastasis (RD) in early postpartum women and their relationships with different delivery modes.Methods:Total of 571 primiparas who gave birth in the Obstetrics and Gynecology Hospital Affiliated to Zhejiang University Medical College from March to May 2020 and underwent 6-week postpartum examination were chosen, they were divided into vaginal delivery group (336 cases) and the cesarean section group (235 cases). The inter-rectus distance(IRD) of five loci (umbilical on 4.5 cm, umbilical on 3 cm, umbilical edge, edge of umbilical, umbilical down 3 cm) at resting state and two loci (umbilical edge, edge of umbilical) at curling state as well as the rectus thickness on the right side of umbilical level were observed by high frequency ultrasound. The impacts of the two delivery modes on IRD at each site and the changes of IRD under the two conditions were analyzed. Spearman correlation analysis was used to evaluate the correlation between the thickness of rectus abdominis and IRD at each site.Results:The incidence of early postpartum RD was 79.7% (455/571), most of which occurring at 3 cm above the umbilicus and the umbilicus levels. At resting state, the IRDs at the 5 loci of vaginal delivery group were (1.62±0.79)cm, (2.03±0.84)cm, (2.65±0.94)cm, (2.09±0.93)cm, and 0.54(0.00, 1.13)cm respectively, while the IRDs at 5 loci of the cesarean section group were (1.75±0.85)cm, (2.26±0.99)cm, (2.99±1.14)cm, (2.57±1.21)cm, and 1.00(0.41, 1.59)cm, with statistical differences at all the levels between groups ( P<0.05). Under the curling state, the IRDs at the 2 loci of vaginal delivery group were (2.10±0.84)cm and (1.66±0.86)cm respectively, while the IRDs at the 2 loci of cesarean section group were (2.28±0.87)cm and (1.91±0.87)cm, with statistical differences between groups( P<0.05). The incidences of increased IRD when compared between resting and curling states at the upper and lower umbilicus in the vaginal delivery group were 16.1% and 26.5%, with 17.4% and 20.4% in the cesarean section group. At the resting state, there was a significant difference in the thickness of rectus abdominis between the vaginal delivery and cesarean section groups [(0.74±0.12)cm vs (0.67±0.12)cm, P<0.05]. At the curling state, the difference between two groups was statistically significant [(1.11±0.23)cm vs (0.99±0.22)cm, P<0.05]. The thickness of rectus abdominis was negatively correlated with IRD(all the 5 loci at resting state, rs=-0.116, -0.140, -0.185, -0.143, -0.144, all P<0.01; and the upper umbilical loci at curling state, rs=-0.091, P<0.05). There was no significant correlation between the thickness of rectus abdominis and IRD at the lower umbilical edge at the curling state ( P>0.05). Conclusions:High frequency ultrasound can evaluate the morphological characteristics of the abdominal rectus muscle in early postpartum stage. Compared with vaginal delivery, rectus abdominis thickness, the IRD is larger in cesarean section primiparas, but less affected by the curling state.

Making of rehabilitation nursing signs and their application in positioning of unaffected extremities among patients with hemiplegia / 中华护理杂志

Objective To make rehabilitation nursing signs and apply them in positioning of unaffected extremities among patients with hemiplegia.Methods Totally 49 stroke patients with hemiplegia were recruited in the control group from July 2013 to November 2014,and 52 stroke patients with hemiplegia were recruited in the experimental group from January 2015 to September 2015.Same treatment and rehabilitation nursing were provided to patients in two groups.For the experimental group,rehabilitation nursing signs were applied together with regular guidance and demonstration of positioning of unaffected extremities.For the control group,only regular guidance and demonstration of positioning of unaffected extremities were provided.Results For the experimental group,the compliance was 86.03％(4 026 of 4 680 times),the accuracy was 72.73％(2 928 of 4 026 times);for the control group,the compliance and accuracy were 58.10％ (2 562 of 4 410 times)and 50.94％ (1 305 of 2 562 times),respectively.In the experimental group,no new complication occurred,no existing complication deteriorated,10 cases of complications were alleviated.However,in the control group,two cases developed complications,two cases of existing complication deteriorated,and only four cases of complications were alleviated.Subjective attention from patients and their family members in the experimental group was higher than that in the control group,and the difference was statistically significant.Conclusion For patients with hemiplegia,the rehabilitation nursing signs can significantly increase the compliance and accuracy of unaffected extremities positioning,and increase the attention from patients and their family members regarding unaffected extremities positioning in daily life.

Experiences in Diagnosis and Treatment of 31 Cases of Uterine Empyema / 昆明医科大学学报

Objective To investigate the etiology,clinical characteristics,diagnosis and treatment of female uterine empyema.Methods We retrospectively analyzed the clinical data of 31 patients with uterine empyema in our hospital from January 2003 to December 2015.Results Uterine empyema was caused as a result of occlusion of the cervical canal,Patients had no typical symptoms,four cases had no symptoms (12.90％),twenty-two cases had abdominal pain (70.97％),twenty-seven cases had vaginal discharge (98.09％) and twelve cases had sanguinopurulent material (38.71％),three cases of them had fever (9.70％).Gynecological ultrasound examination was an important diagnostic tool.Dilatation of cervix,discharging purulent material,antibiotics treatment,the cervical adhesions were manually broken down to establish a patent cervical lumen to accommodate a uterine Fleischl catheter,the uterus was lavaged with 0.9％ Nacl solution,metronidazole,gentamicin.The above treatment got a good therapeutic effect.Conclusion Pyometra has atypical symptoms with difficult diagnosis,and develops gradually.Gynecological ultrasound examination has great clinical significance.Full dilatation of cervix,discharging purulent material are the key to the success of conservation treatment and can achieve good results.Combination of endometrial cancer or other malignant tumor patients should take surgery as soon as possible,according to the tolerance ability.

Factors Related with Outcome of Dysphagia after Stroke / 中国康复理论与实践

@#Objective To investigate the factors related with swallowing function after stroke. Methods Stroke patients with dysphagia were reviewed, 296 cases with pseudobulbar paralysis, and 82 cases with bulbar paralysis. Swallowing function was evaluated with videoflu-oroscopic swallowing study (VFSS). The variable of age, sex, Body Mass Index (BMI), scores of National Institutes of Health Stroke Scale (NIHSS), Simplified Fug-Meyer Assessment (FMA) and modified Barthel Index (MBI), intubation, aspiration, length of hospitalization (LOH), and initiation of rehabilitation intervention were analyzed with Logistic regression. Results Age, NIHSS score, intubation, aspira-tion, initiation of rehabilitation intervention were the risk factors for poor outcome of swallowing function in all the patients, while the score of MBI was the protective factor for the pseudobulbar paralysis ones. Conclusion The younger the patients, the less the NIHSS score, no in-tubation, no aspiration, and the earlier the rehabilitation intervened, the more independent the pseudobulbar paralysis patients, the better swallowing function recovered.

Effect of Intensive Health Education among Families on Nutritional Status of Stroke Patients with Dysphagia / 中国康复理论与实践

Objective To investigate the effect of intensive education among the families on nutritional status of the stroke patients with dysphagia. Methods 42 stroke patients with dysphagia diagnosed with Standard Swallowing Assessment were enrolled in the study. The pa-tients and their families were randomly divided into intervention group (21 pairs) and control group (21 pairs). The families of the interven-tion group were given the intensive health education, 5~10 minutes each time, once a week for 1 month. The families of the control group were only given routine health education. The two groups of patients received conventional drug and swallowing function training. Hemo-globin (Hb), serum albumin (ALB), contralateral brachial triceps skin fold thickness (TSF) and arm muscle circumference (AMC) were mea-sured 1 month latter. Results Hb, ALB, TSF and AMC in the intervention group were higher than in the control group (P<0.05). Conclusion Intensive education among the families may improve the nutritional status of stroke patients with dysphagia.

Clinical features and aCGH analysis of one child with Phelan-McDermid syndrome / 临床儿科杂志

Objective To analyze the clinical features and results of array-comparative genomic hybridization (array CGH, aCGH) in a Chinese girl with Phelan-McDermid syndrome. Methods The clinical symptoms of a child with Phelan-Mc-Dermid syndrome were retrospectively analyzed. Routine G-banding was performed to analyze the karyotype, and the aCGH was used to analyze subchromosomal abnormalities. Results The routine karyotype analysis showed a normal female karyotype without abnomalities in chromosome number and structure. aCGH analysis finely mapped the deletion of Chr22q13.2-qter. Phel-an-McDermid syndrome was diagnosed for this case. Conclusions Phelan-McDermid syndrome can be diagnosed by the typi-cal and detailed clinical features in combination with the laboratory examinations of subchromosomal abnormalities. aCGH is one of the most valuable methods to analyze subchromosomal abnormalities and to diagnose Phelan-McDermid syndrome.

Gait analysis in cerebral palsy children / 中国组织工程研究

BACKGROUND:Abnormal gaits are very common in children with cerebral palsy, and how to improve the gait is the focus of rehabilitation therapy. OBJECTIVE:To analyze the biomechanical parameters of gaits in cerebral palsy children and to observe the effects of brace control on the exercise capacity of dyskinetic cerebral palsy children. METHODS:In this paper, we compared the biomechanical parameters of children with cerebral palsy and normal children in the initial process of walking and during walking. Biomechanical parameters in the initial process of walking include spatial and temporal parameters, kinematic and kinetic parameters of the range of motion of the knee and ankle. Biomechanical parameters during walking include spatial and temporal parameters. With the aid of hand brace, dyskinetic cerebral palsy received postural control, gait training, and sling exercise therapy for 3 months. The Gross Motor Function Measure (GMFM-88) assessment and video control were conducted for evaluation of therapeutic efficiency. RESULTS AND CONCLUSION:Biomechanical parameters in the initial process of walking showed significant differences between children with cerebral palsy and normal children except for the peak of ground reaction force at frontal axis with the right foot to start walking. Biomechanical parameters during walking showed that the stance phase and bipedal stance phase were prolonged, while the step length and stride length were shortened in the children with cerebral palsy compared with the normal children. For cerebral palsy children with brace control, the GMFM-88 scores were significantly decreased after treatment, involuntary movements were reduced shown on the video, the neck and body were stable, and life skil s were improved. Children with epilepsy and cognitive impairment or who had imaging changes in the basal ganglia showed a little improvement, and children with dance-athetoid type and dystonia type had a better progress than those with athetoid spasm.

The Value of Colposcopic Reid Score in Diagnosis of Cervical Lesions and HPV Infection in Women with HIV Infection / 昆明医科大学学报

Objective To explore the value of the electronic colposcopy Reid Score in diagnosis of cervical lesions and HPV infection in women with HIV infection, so as to find out an inexpensive, convenient and feasible screening methods. Methods 95 cases of HIV-infected women were screened by cervical liquid based cytology, HPV testing, colposcopy and Reid Score. The patients with abnormal results in any one test mentioned above underwent cervical biopsy. The colposcopy was combined with pathological as a gold standard for case-control study. Results There was a statistically signi?cant correlation between colposcopic ndings and histopathological ndings and the score was increased as parallel as malignancy grade (r=0.753,P=0.00) . The specificity of Reid score for high grade CIN was better than high-risk HPV testing for CIN diagnosis and the sensitivity was better than liquid based cytology. Acetic acid staining has relatively high sensitivity and specificity in the diagnosis of cervical lesions. Conclusions Colposcope Reid score for cervical lesions has a predictive value, especially for high grade cervical precancerous lesions. Colposcopy for HIV-positive women cervical cancer screening is an efficient and feasible way, especially for the area where lack of medical resources.

Analysis of prognostic influencing factors for early non-small-cell lung cancer after radiotherapy / 肿瘤研究与临床

Objective To evaluate the prognosis influencing factors of early non-small cell luny cancer (NSCLC) after radiotherapy.Methods 81 early NSCLC patients received definitive radiotherapy and were eligible.Among these patients,60 were diagnosed as squamous cell carcinoma,16 were adenocarcinoma and 5 were diagnosed through imaging instead of pathology.45 patients received conventional radiotherapy,36 patients received three dimensional conformal radiotherapy (3D-CRT),All of them received a total dose of 50-96 Gy with a median dose of 67.8 Gy. Kaplan-Meier survival curves and Cox regression model analysis were applied to evaluate the survival and prognostic factors. Results The median survival time was 34 months.The 1-,3- and 5-year survival rates (OS) were 88.7 ％,41.9 ％,21.8 ％,respectively.Karnofsky performance status≥80,Clinical stage, diameter≤4 cm and the therapeutic effect were associated with improving overall survival.Cox hazards model showed that Karnofsky performance status≥ 80 and diameter≤4 cm were likely to be independent positive prognostic factors. Conclusion Karnofsky performance status and tumor diamater can be used to evaluate the prognosis of early NSCLC after radiotherapy.

Influence of nursing intervention on cardiovascular risk factors of elderly patients with impaired glucose tolerance / 中国实用护理杂志

[Objective] To explore the influence of nursing intervention in reducing cardiovascular risk factors in elderly patients with impaired glucose tolerance.[Methods] From May 2009 to June 2011,216 cases of elderly patients in the clinic of our hospital with impaired glucose tolerance were randomly divided into the intervention group and the control group with 108 cases in each.The control group adopted traditional routine care,and the intervention group received nursing intervention.The duration of followup and intervention was six months.The collected data included basic situation,and tested blood pressure,blood sugar,total cholesterol(TC),triglycerides(TG),high-density lipoprotein cholesterol(HDLC)and low density lipoprotein cholesterol(LDL-C)before and after follow-up.[Results] For both two groups of patients,blood sugar levels were decreased,the decreased level in the intervention group was higher than that of the control group.[Conclusions] Nursing intervention for the elderly patients with impaired glucose tolerance plays a significant role in reducing cardiovascular risk factors and improving IGT prognosis.

Effect of Qingrequzhuo capsule on blood pressure of patients with type 2 diabetes metabolism syndrome / 国际中医中药杂志

Objective To observe the effect of Qingrequzhuo capsule on blood pressure of patients with type 2 diabetes metabolism syndrome. Methods 72 cases with type 2 diabetes and metabolic syndrome were randomly recruited into a control group and a treatment group. Based on the conventional treatment, the treatment group was treated with Qingrequzhuo capsule, 5 tablets/time, 3 times/d; While the control group was treated with ramipril tablets 2.5 mg, 1 times/d, respectively. After 3 months, the value of blood pressure and blood lipids were observed. Results After treatment, the blood pressure and blood lipid were significantly improved in both groups(P<0.05), but no significant difference between the two groups (P>0.05). Conclusion Besides improving blood lipids, Qingrequzhuo capsule can also reduce high blood pressure and improve a variety of risk factors to cardiovascular disease.

Mental Health Related Factors of Family Members of Stroke Patients / 中国康复理论与实践

@#ObjectiveTo explore the mental health level of family members of stroke patient and related factors.Methods34 stroke patients' family members were tested with the Symptom Checklist-90(SCL-90), and compared with norms; SCL-90 factor scores, which were higher than that of norms, were analyzed for related factors.ResultsScores of 4 factors in the SCL-90 (somatization, depression, anxiety and phobia) were higher than norms in the family members of stroke patients. Scores of somatization factor correlated with the education background; depression factor correlated with the family income variable; anxiety factor correlated with the cognitive impairment variable of patients. In the correlation analysis with patient's activities of daily living (ADL) scores, somatization factor negatively correlated with total score of ADL and hygiene, feeding, bowel management, locomotion, bathing scores; both depression factor scores and positive item numbers negatively correlated with feeding and bowel management scores; phobia anxiety factor scores with hygiene, feeding, bowel management, communication, locomotion, bathing and total scores.ConclusionThe mental health level of family members of stroke patient is lower, and it is related to family income reduction, patient's cognitive impairment, and especially with the patient\s ADL level.

Effect of Sertraline on Cytokine Balance in Patients with Depression / 中国药房

OBJECTIVE:To investigate the effect of sertraline on cytokine balance in patients with depression. METHODS: Serum levels of interleukin2(IL-2), interleukin12(IL-12), interleukin4(IL-4), tumor necrosis factor-alpha (TNF-?) and transforming growth factor beta (TGF-?1) were measured in 26 patients with depression(depression group) before and after treatment and 28 healthy volunteers (control group) by enzyme linked immunosorbent assay (ELISA). RESULTS: As compared with control group, in depression group the serum levels of IL-2, IL-12, TNF-? were significantly higher than in control group; the serum levels of IL-4, TGF-?1 were significantly lower than in control group(P

Cloning,expression and the immune characterization of panallergen profilin in coco(Cocos nucifera Linnaeus) / 中国免疫学杂志

Objective:To clone and express panallergen profilin from the pollen of coco(Cocos nucifera Linnaeus).Methods:RT-PCR and RACE methods were applied to clone the full-length panallergen genes from coco pollen and the sequence was analyzed.The specific primers were designed.The ORF of profilin of coco pollen was amplified with RT-PCR and cloned into the expression vector pET 28a.Expression of the recombinant coco pollen profilin was carried out in E.coli BL21(DE3) and the purification of the recombinant protein was performed via affinity chromatography with Ni2+ coupled to sepharose.IgE reactivity to recombinant coco pollen profilin was investigated by immunoblot.Results:The complete sequence of coco pollen profilin was cloned.The sequence was 608 bp and included an open reading frame(396 bp) coding for 131 amino acids.Sequence analysis showed that the deduced protein was an acidic protein with an estimated molecular mass of 14.19 kD and a pI of 4.61.The GeneBank accession number of the clones was EF173598.After overexpressed in E.coli BL21(DE3),the recombinant protein was purified through affinity chromatography with Ni2+ coupled to sepharose.Immunoassay showed that the recombinant allergen has good IgE binding capacity.Conclusion:The profilin of coco pollen is expressed successfully in BL21(DE3),which will be used as a base for further study on coco pollen related allergy.