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Objective:To investigate the indications for prenatal diagnosis and pregnancy outcomes of fetal Turner syndrome (TS) with different karyotypes.Methods:Clinical data of TS cases diagnosed by fetal karyotyping in the Prenatal Diagnostic Center of Guangzhou Women and Children′s Medical Center from January 1, 2010, to June 30, 2021, were analyzed retrospectively. According to the karyotyping results, these cases were divided into two groups: monosomy X (45,X) and non-monosomy X groups (including karyotypes of mosaic monosomy X, isochromosome X, X deletion, X rearrangement, pseudodicentric X, and mosaicism with Y or Y deletion). Chi-square test was used to compare the detection rate, indications for prenatal diagnosis, and pregnancy outcomes of the two groups, and the Bonferroni test was conducted for further pairwise comparisons between the subgroups. The Chi-square test (or Fisher's exact test) was used to compare the abnormal ultrasound signs. Mann-Whitney U test was used to compare the nuchal translucency (NT) thickness of the two groups. Results:(1) Invasive prenatal diagnosis was performed on 27 981 pregnancies, and 205 (0.73%) of them were diagnosed with TS, including 135 cases of monosomy X and 70 cases of non-monosomy X (44 with numerical sex chromosome abnormalities, and 26 with structural sex chromosome abnormalities). (2) Out of the 205 pregnancies, 164 (80.0%) had one indication for prenatal diagnosis, and 41 (20.0%) had multiple indications. The detection rate of fetal ultrasonographic abnormalities [85.2% (115/135)] in monosomy X cases was significantly higher than that of three other indications [positive serological screening for Down's syndrome: 67.3% (35/52); positive non-invasive prenatal testing (NIPT) for sex chromosome abnormality: 60.0% (15/25); and other indications (advanced maternal age, adverse pregnancy history and thalassemia genes carried by both parents): 5.2% (7/135); all P<0.05], and also higher than the figure in non-monosomy X cases [25.7% (18/70), χ 2=71.55, P<0.001]. In non-monosomy X cases, the detection rates of TS among cases with high-risk results from serological screening for Down's syndrome and NIPT for sex chromosome abnormality [54.7% (29/53) and 68.3% (28/41)] were higher than those of the other two indications [fetal ultrasonographic abnormalities: 25.7% (18/70), other indications: 14.3% (10/70); all P<0.05]. (3) Of the 133 pregnancies with fetal ultrasonographic abnormalities as the indication, 65 (48.9%) had one abnormal ultrasound sign, and 68 (51.1%) had multiple signs. Among the 95 cases with ultrasound abnormalities in the first trimester and 38 cases in the second or third trimester, the incidence of cystic hygroma and hydrops was significantly higher in monosomy X cases than in non-monosomy X cases [in the first trimester: 71.8% (61/85) vs 1/10, 34.1% (29/85) vs 0/10; in the second or third trimester: 73.3% (22/30) vs 0/8, 50.0% (15/30) vs 0/8; Fisher's exact test, all P<0.05]. NT thickness in monosomy X cases was greater than that of non-monosomy X cases [7.5 mm (1.0-17.4 mm) vs 1.7 mm (0.8-9.5 mm), Z=－5.25, P<0.001]. (4) Among the 72 pregnancies with indications other than ultrasound abnormalities, 68 underwent Down's syndrome screening and 61 underwent NIPT. The detection rates among the cases with positive results in Down's syndrome screening, NIPT for a sex chromosome abnormality, and other indications (advanced maternal age, adverse pregnancy history, and thalassemia genes carried by both parents) were 54.4% (37/68), 59.0% (36/61) and 22.2% (16/72), respectively ( χ 2=22.40, P<0.001). The detection rates of the cases with high-risk results from Down's syndrome screening and NIPT for sex chromosome abnormality were higher than that of the cases with other indications ( χ 2=18.77 and 15.40, both P<0.001). Of the 72 pregnancies, 19 (26.4%) were monosomy X and 53 (73.6%) were non-monosomy X, including 42 (58.3%) with chromosomal mosaicism. (5) Among the 205 cases of TS, 185 were successfully followed up (123 were monosomy X and 62 were non-monosomy X). There was one live birth in monosomy X cases (0.8%, 1/123) and 17 in non-monosomy X cases (27.4%, 17/62), and the difference was statistically significant ( χ2=33.22, P<0.001). Sixty-three TS cases with normal ultrasound findings were followed up (18 were monosomy X and 45 were non-monosomy X). In these cases, all 18 pregnancies with monosomy X and 32 (71.1%, 32/45) with non-monosomy X were terminated and the other 13 (28.9%, 13/45) cases of non-monosomy X were delivered. Of the 18 live births, one (non-monosomy X) was delivered at 36 weeks of gestation and the rest were born at term. Eleven cases of them were followed up. The height of one child with monosomy X was lower than the average height of children of the same age and sex by more than 2 standard deviations (－2 SD). The height of 10 children with non-monosomy X were between－1 SD and +3 SD among the children of the same age and gender. The mental and motor development were good in the 11 cases, and no other structural abnormalities were observed. The remaining seven cases refused to be followed up. Conclusions:Ultrasonographic abnormalities are the main indications of fetal TS with monosomy X, while positive Down's syndrome screening and positive NIPT for sex chromosome abnormality are indicators of non-monosomy X. The termination rate for pregnancies with monosomy X is higher than that for non-monosomy X.
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ObjectiveTo investigate the characteristics of polysomnography （PSG） in depression patients complicating moderate-to-severe obstructive sleep apnea hypopnea syndrome （OSAHS）. MethodsA retrospective analysis was conducted on the outpatients， inpatients and physical examination population who completed overnight PSG monitoring in the sleep medicine center of Suzhou Guangji Hospital from December 2017 to October 2019. Four groups of subjects were finally enrolled， including depression patients with moderate-to-severe OSAHS （n=31）， depression patients without OSAHS （n=79）， moderate-to-severe OSAHS patients （n=96） and normal control group （n=32）. The sleep process related indicators （total sleep time， sleep latency， number of awakenings）， sleep structure related indicators （N1， N2， N3， percentage of REM sleep， REM latency， REM sleep duration）， sleep-related respiratory variables （oxygen reduction index） and other polysomnographic parameters of the four groups were compared. ResultsIn terms of sleep process， the total sleep time， sleep latency and number of awakenings yielded significant differences among the four groups （F=2.874， 3.959， 12.291， P<0.05 or 0.01）. In terms of sleep structure， the percentage of total sleep time in N2 and N3 stages demonstrated significant differences among the four groups （F=13.885， 48.013， P<0.01）. The REM latency， REM sleep duration and percentage of REM sleep manifested significant differences among the four groups （F=41.492， 11.827， 10.552， P<0.01）. In terms of sleep-related respiratory variables， the oxygen reduction index exhibited significant differences among the four groups （F=170.585， P<0.05）. ConclusionDepression patients complicating moderate-to-severe OSAHS suffer from severe sleep process and structural disturbances， accompanied by quite frequent and severe sleep-related respiratory events.
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Objective To investigate the safety of cleaning and disinfection of duodenoscope used in endoscopic retrograde cholangiopancreatography (ERCP).Methods The duodenoscopes,which were used in Endoscopy Center of Digestive Disease Hospital,Heilongjiang Provincial Hospital from May 4 to May 31 2016,were cleaned manually and disinfected with sterilization powder.The samples from elevator and elevator channel were collected for bacterial culture to evaluate the safety of clinical application of duodenoscope.Results Among 60 high level disinfections,one was excluded because disinfectant concentration wasn't effective.Among 59 elevator samples no positive cultures were detected,while among 59 channel samples,4(6.8％) cultures were positive and all from the same duodenoscope,including 3 cases of Klebsiella pneumonia and 1 case of Pseudomonas aeruginosa.Conclusion Sterilization powder is effective for disinfection of duodenoscope used for ERCP.Residual organic material can't be excluded from elevator sample even if it is negative for culture.Duodenoscope with high level disinfection still has the risk of transmitted infection,and should be monitored regularly by culture and reprocessed in time.
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Objective To construct the sequential management model of networked drug-cognitive behavior in patients with chronic insomnia,and to explore the effects of this model on treatment and management of patients with chronic insomnia. Methods A total of 160 patients with chronic insomnia treated from January 2014 to June 2015 were randomly divided into the experimental group and the control group. The experimental group was treated with networked drug-cognitive behavior sequential therapy and management. Through the establishment of patient management files in the network management system,the disease was assessed,treatment programs were developed, remote implementation of 8 weeks of drug-cognitive behavior sequential treatment was conducted,12 months of net-work remote dynamic management and efficacy evaluation was performed. The control group received 8 weeks of traditional medical care with face-to-face drug-cognitive behavior sequential treatment and 12 months outpatient fol-low-up management. Results Comparison of management core indicators:there were significant differences between two groups in number of visiting hospital,exit status,treatment completion and documentation,sleep diary comple-tion,sleep scale completion and patient satisfaction. Comparison of sleep quality:after 2 months of treatment,there was no difference in quality of sleep between two groups; after 12 months of treatment,there were significant dif-ferences in sleep latency,awakening time after sleep,total sleep time and sleep efficiency between two groups. Scale score:after 12 months of treatment,there were significant differences in Pittsburgh sleep quality index,sleep personal beliefs and attitude scale score between two groups. Conclusion Network-based management improves the compliance of patients with chronic insomnia,reduces the loss of follow-up rate,improves sleep cognition,increases sleep quality,saves patients' time and cost,increases patient satisfaction,which is worth promoting in clinical application.
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Fibromyalgia syndrome after comprehensive treatment of breast cancer is rare and seldom reported. Here we present a case of a 50-year-old female patient,who was admitted to the hospital because of generalized fibromyalgia for 3 months and brain metastasis after the right breast carcinoma surgery for 1 month, and the clinical diagnosis was brain metastasis from breast carcinoma combined with fibromyalgia syndrome. The fibromyalgia were relieved with proper symptomatic treatment but the patient eventually died of tumor progression.
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Female , Humans , Middle Aged , Brain Neoplasms , Mortality , Breast Neoplasms , Mortality , Therapeutics , Carcinoma , Mortality , Therapeutics , Fibromyalgia , Diagnosis , TherapeuticsABSTRACT
Objective To review the pathogenesis and research prospects in AA.[Methods] In this paper, we summarize the imbalance mechanism of Th1/Th2, and the relationship of fol icular helper T cells(Tfh),Thl7, Th9 ,Th22 with aplastic anemia. [Results]The imbalance of Th1/Th2 cells leads to bone marrow failure. Immunosuppressive therapy can inhibit Th1 cell, restore the balance. The pathogenesis of Tfh, Thl7, Th9 and Th22 is closely correlated with AA. [Conclusion] AA pathogenesis is complex, CD4+cellsubsets is related to the occurrence and development of AA. Detect the levels of immune cells in the serum of patients is beneficial for diagnosis and treatment of AA.
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Objective To establish the normative screening model and apply it to screen and manage the stroke risk group ,and to observe its application effect .Methods The screening management team in our department was set up for establishing the norma-tive stroke screening model .Then the stroke screening works were carried out in the outpatient department and the community pop-ulation .The screened groups of stroke high risk were implemented the 1-year control according to the guidelines of stroke screening and intervention .Results 9 631 individuals of stroke risk were screened ,among them 1 786 high-risk patients were screened out with a rate of 18 .55% .The interventions on the risk factors existing in the high-risk patients were implemented .The comparison of blood glucose ,blood pressure ,blood fat ,fat index ,smoking ,physical exercise and reasonable diet before and after interventions in the high-risk patients showed statistically significant differences (P<0 .05) .Conclusion Establishment of the normative manage-ment model of stroke screening is the important guarantee to do a good job of stroke screening and control for high risk group ,and significantly decreases the risk factors for high risk group .
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<p><b>OBJECTIVE</b>To evaluate the clinical efficacy and safety of three-port transumbilical endoscopic cholecystectomy performed using conventional laparoscopic instruments.</p><p><b>METHODS</b>Thirty-two patients undergoing three-port transumbilical endoscopic cholecystectomy using conventional laparoscopic instruments (group A) with 3 ports around the umbilicus were compared with 96 patients (group B) receiving the conventional 4-port routine endoscopic cholecystectomy.</p><p><b>RESULTS</b>All the procedures were successfully completed without conversion to open laparotomy. In group A, the procedures were completed smoothly in 30 cases while 2 cases required another port (5 mm) punctured below the xyphoid due to severe adhesion around the cyst. The median operating time was 39.7∓5.2 min in group A, significantly longer than that in group B (25.3∓3.3 min, P<0.001), but the patients in group A obtained better cosmetic results (P<0.001); the median blood loss, recovery time of postoperative intestine function, length of postoperative hospital stay, and the rate of use of postoperative painkillers were comparable between the two groups. Bile leakage or other postoperative complications occurred in none of cases in the two groups.</p><p><b>CONCLUSION</b>In cases without severe adhesion around the cyst, three-port transumbilical endoscopic cholecystectomy using conventional laparoscopic instruments is a safe and feasible alternative to routine endoscopic cholecystectomy with better cosmetic results.</p>
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Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Cholecystectomy, Laparoscopic , Methods , Treatment Outcome , Umbilicus , General SurgeryABSTRACT
Objective: To investigate influence of Wenxin particle on cardiac electrophysiology in rats complicated with depression after myocardial infarction (MI). Methods: A total of 50 SD rats were randomly and equally divided into normal group, MI group, depression group, MI complicated with depression group (model group) and Wenxin particle group (Wenxin particle were given to model rats by gavage, 2 g/d, 28d). Model（MI complicated with depression）rats were made by acute ligation of left coronary artery and supply chronic unpredictable mild stress in order. The influences of Wenxin particle on cardiac electrophysiological indexes, such as monophasic action potential (MAP90), left ventricular effective refractory period (ERP) and ventricular fibrillation threshold (VFT) were evaluated in Wenxin particle group. Results: (1) Compared with normal group, there were significant decrease in behavior scores (P<0.05) in model group, after four-week treatment with Wenxin particle, their behavior scores significantly increased (P<0.01); (2) Compared with normal group, there were significant increase in MAPD90 and ERP, and significant decrease in VFT in model group (P<0.05); compared with model group, there were significant decrease in MAPD90 [(89.33±7.12) ms vs. (72.29±8.37) ms] and ERP [(84.00±6.57) ms vs. (68.00±7.43) ms], and significant increase in VFT [(7±3.11)V vs. (29±5.60)V] in Wenxin particle group, P<0.05. Conclusion: Wenxin particle can improve cardiac electrical remodeling in rats complicated with depression after myocardial infarction, including decrease monophasic action potential duration and effective refractory period, and raise ventricular fibrillation threshold.