A New Calculation Model for Calcium Requirements After Parathyroidectomy in Patients With Secondary Hyperparathyroidism

Objectives@#. We aimed to develop a new calculation model for calcium requirements in dialysis patients following parathyroidectomy. @*Methods@#. A total of 98 patients with secondary hyperparathyroidism receiving parathyroidectomy from January 2014 to January 2022 were enrolled in this study. Among these patients, 78 were randomly selected for construction of the calcium requirement calculation model, and the remaining 20 patients were selected for model validation. The calcium requirement model estimated the total calcium supplementation for 1 week after surgery using variables with significant relationships in the derivation group by stepwise multiple linear regression analysis. Bias, precision, and accuracy were measured in the validation group to determine the performance of the model. @*Results@#. The model was as follows: calcium requirement for 1 week after surgery=33.798–8.929×immediate postoperative calcium+0.190×C-reactive protein–0.125×age+0.002×preoperative intact parathyroid hormone+0.003×preoperative alkaline phosphatase (R2=0.8). The model was successfully validated. @*Conclusion@#. We generated a novel model to guide calcium supplementation. This model can assist in stabilizing the serum calcium levels of patients during the early postoperative period. Furthermore, it contributes to the individualized and precise treatment of hypocalcemia in patients following parathyroidectomy.

Optimization of extraction process and evaluation of the antibacterial and anti-inflammatory activity of blumeatin from Blumea balsamifera / 中国药房

OBJECTIVE To optimize the extraction process of blumeatin from Blumea balsamifera and to evaluate its antibacterial and anti-inflammatory activity. METHODS The content of blumeatin in the extract of B. balsamifera was determined by HPLC. On the basis of the single factor experiment， the extraction technology of blumeatin was optimized by the Box-Behnken response surface method with the volume fraction of ethanol， liquid-solid ratio and extraction time as the factors， using the yield of blumeatin as index. Microdilution method was used to determine the antibacterial activity of blumeatin against Streptococcus pyogenes， Staphylococcus aureus， Streptococcus agalactiae， Streptococcus mutans， Bacillus subtilis and Micrococcus luteus. The anti-inflammatory activity of blumeatin was evaluated by ear swelling test and capillary permeability test in mice. RESULTS The optimal extraction technology was as follows： ethanol concentration of 90%， liquid-material ratio of 15∶1， extraction time of 2 h at 80 ℃； the yield of blumeatin using this extraction process was 1.97 mg/g. The minimum inhibitory concentrations of blumeatin for S. pyogenes， S. aureus， S. agalactiae， S. mutans， B. subtilis and M. luteus were 50.00， 200.00， 400.00， 400.00， 800.00 and 1 600.00 μg/mL， respectively； the minimum bactericidal concentrations of blumeatin for S. pyogenes and S. aureus were 400.00 and 1 600.00 μg/mL， respectively. Blumeatin could significantly inhibit the ear swelling induced by xylene and capillary permeability induced by acetic acid in mice（P＜0.05 or P＜0.01）. CONCLUSIONS The optimized extraction technology of blumeatin is stable and feasible. The extracted blumeatin has a certain antibacterial effect against S. pyogenes and a good anti-inflammatory activity.

Prenatal diagnosis and pregnancy outcome of anomalous origin of one pulmonary artery branch from the aorta: analysis of 14 cases / 中华围产医学杂志

Objective:To summarize the prenatal diagnosis features, classification and pregnancy outcome of anomalous origin of one pulmonary artery branch from the aorta (AOPA).Methods:This study involved 14 cases who were prenatally diagnosed with AOPA in Guangzhou Women and Children's Medical Center between June 2016 and August 2022. Prenatal and postnatal echocardiographic features, postpartum diagnosis, surgical treatment and pregnancy outcome in these cases were summarized and analyzed by descriptive analysis.Results:Out of the 14 fetuses, there were seven fetuses with proximal-type AOPA (including three isolated AOPA, three Berry syndrome and one with interruption of the aortic arch, aorticopulmonary septal defect and ventricular septal defect) and another seven with isolated distal-type of AOPA. Among the seven cases of proximal-type AOPA, two were terminated and five were born alive. The postpartum diagnosis was consistent with the prenatal diagnosis in the five babies who later underwent surgical treatment with good outcomes. Among the seven cases of distal-type AOPA, one was terminated; two were initially diagnosed as AOPA in the neonatal period but then as unilateral absence of pulmonary artery (UAPA) due to tapering or closure of the ductus arteriosus during follow-up; the other four were confirmed with UAPA after delivery. All of the six neonates underwent surgical treatment with good outcomes.Conclusions:Prenatal diagnosis and classification of AOPA should be as accurate as possible. It is recommended that the distal-type of AOPA could be diagnosed as UAPA after delivery and treated according to UAPA. Both kinds of patients should be treated with surgery timely after delivery to ensure a good prognosis.

Changes of brain oxygenated hemoglobin concentration in adolescent patients with depression under speech fluency task / 中华行为医学与脑科学杂志

Objective:To explore the characteristics and differences of oxygenated hemoglobin responses in different brain regions in adolescent depressive disorder patients and healthy adolescents during speech fluency task based on functional near-infrared spectroscopy imaging.Methods:From March 2021 to June 2021, twenty-nine adolescents with depression(depressed group) and 26 healthy adolescents(normal group) were enrolled. The severity of depression was assessed by Hamilton depression scale, and the speech fluency task was performed by functional near-infrared spectroscopy brain imaging, and the relative concentrations of oxyhemoglobin in the prefrontal and bilateral temporal lobes were measured.SPSS 26.0 statistical software was used for data analysis, chi-square test was used for gender count data. The t-test was used for comparison of two groups. The measurement data that did not conform to normal distribution were compared between the two groups by Mann-Whitney U test. Results:In the speech fluency task, there was no significant difference in the concentration of oxygenated hemoglobin in prefrontal and left temporal between the depressed group and the normal group (both P>0.05); the oxygenated hemoglobin concentration in the right temporal lobe(-9.179(-22.231, 4.789)) of depressed group was significantly lower than that of the normal group (12.754(-9.438, 35.008)), and the difference was statistically significant ( U=538.00, P<0.05). The oxygenated hemoglobin concentration in right temporal lobe of depressed group had no correlation with the score of Hamilton depression rating scale ( r=0.092, P>0.05). Conclusion:The right temporal lobe function of adolescent depression patients is lower than that of healthy controls during speech fluency tasks, which provides a basis for study of the relationship between depression and some cognitive sensitivity impairment and the function of right temporal lobe.

Observed to expected lung area to head circumference ratio at different gestational ages with various measurements in predicting indication for extracorporeal membrane oxygenation in fetuses with isolated left-sided congenital diaphragmatic hernia / 中华围产医学杂志

Objective:To investigate the prediction value of observed to expected lung area to head circumference ratio (o/e LHR), measured at different gestational age with various methods, on indication for extracorporeal membrane oxygenation (ECMO) in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH).Methods:Clinical data of 40 neonates who were diagnosed with left-sided CDH and treated in Guangzhou Women and Children's Medical Center were retrospectively collected from January 2017 to May 2021. The o/e LHRs were prenatally calculated using maximum diameter and tracing method at 22-24 and 31-33 weeks of gestation. According to whether the neonates had indications for ECMO after birth or not, they were divided into ECMO ( n=12) or non-ECMO group ( n=28). Differences in the o/e LHR and general situations between the two groups were analyzed using C hi-square test, independent sample t-test, and non-parametric Mann-Whitney U test. Binary logistic regression was used to analyze the influencing factors for ECMO requirement and receiver operating characteristic (ROC) curve was used to evaluate the value of o/e LHR in predicting the indication for ECMO. Results:Both maximum diameter and tracing method suggested that the o/e LHR at 31-33 gestational weeks was lower than that at 22-24 gestational weeks [maximun diameter method: 40.4 (32.9-51.5) vs 45.1 (36.3-53.4), Z=－2.48, P=0.013; tracing method: 38.6 (33.2-47.6) vs 44.1 (35.9-51.7), Z=－3.29, P=0.001]. There was no statistical difference in o/e LHR detected at the same gestational weeks between the two methods (both P>0.05). Binary logistic regression showed that o/e LHR measured at 31-33 gestational weeks using maximum diameter method was an independent protective factor for ECMO requirement ( OR=0.873, 95% CI: 0.790-0.965, P=0.008). ROC curve analysis showed that the area under the curve for evaluating the predictive value of o/e LHR for ECMO requirement was 0.830 with the sensitivity of 83.3% and the specificity of 71.4% when the cut-off value of o/e LHR at 31-33 gestational weeks was 38.195 measured by maximum diameter method. Conclusions:The o/e LHR measured at 31-33 weeks is lower than that at 22-24 weeks of gestation by both methods. The o/e LHR measured by maximum diameter method at 31-33 weeks of gestation may be useful for predicting the ECMO indication after birth but requiring comprehensive evaluation of clinical conditions due to its insufficient predicting power.

Risk factors for hypocalcemia after parathyroidectomy in maintenance hemodialysis patients with secondary hyperparathyroidism / 中华肾脏病杂志

Objective:To explore the risk factors of hypocalcemia and the correlation between calcium supplementation and clinical parameters after parathyroidectomy (PTX) in maintenance hemodialysis patients with secondary hyperparathyroidism (SHPT), and to analyze the effect of calcium supplementation after PTX on the long-term prognosis of patients.Methods:This study was a single-center retrospective study. The patients who underwent PTX in maintenance hemodialysis patients with SHPT in the Huashan Hospital affiliated to Fudan University from October 2014 to March 2021 were retrospectively enrolled. Total PTX with auto transplantation or total PTX alone were the surgical procedures. According to the postoperative requirement of calcium in the first week, the patients were divided into two groups: high calcium supplement (>16.05 g/week) group and low calcium supplement group (≤16.05 g/week). According to the average serum calcium level in the first week after operation, the patients were divided into hypocalcemia group (≤2.1 mmol/L) and non-hypocalcemia group (>2.1 mmol/L) and the differences of clinical parameters between the two groups were compared. The correlation between clinical parameters and the postoperative calcium requirement was examined through Pearson or Spearman correlation analysis. The influencing factors for hypocalcemia after PTX were examined through logistic regression analysis. The survival curve was made by Kaplan-Meier method, and the difference of cumulative survival rate between the two groups was compared by log-rank test.Results:A total of 98 maintenance hemodialysis patients with SHPT were enrolled. The levels of serum calcium, phosphorus, and intact parathyroid hormone (iPTH) after the operation decreased significantly than those of preoperation (all P<0.05). Multiple linear regression analysis showed age ( β=-0.160, P=0.030), iPTH ( β=0.004, P=0.025) and C-reactive protein ( β=0.186, P=0.011) were correlated with postoperative calcium requirement. Preoperative alkaline phosphatase ( OR=1.002, 95% CI 1.000-1.004, P=0.018) and hemoglobin ( OR=0.977, 95% CI 0.954-1.000, P=0.048) independently predicted the occurrence risk of postoperative hypocalcemia through multivariate logistic regression analysis. The recurrence rate of high calcium supplement group was higher than that of low calcium supplement group (10.26% vs 0, P=0.023) and there was no significant difference in all-cause mortality between the two groups (17.95% vs 5.08%, P=0.086). The recurrence rate between the hypocalcemia group and non-hypocalcemia group was no significantly different (8.3% vs 1.8%, P=0.451) and there was no significant difference in all cause mortality between the two groups (12.5% vs 12.7%, P=1.000). Kaplan-Meier survival curve showed that the cumulative survival rate between the two groups was no significantly different (log-rank test χ2=0.147, P=0.702). Conclusions:PTX is a safe and effective therapeutic method to reduce the level of iPTH and improve the metabolism of calcium and phosphorus in SHPT patients. Age, iPTH and C-reactive protein are correlated with the postoperative requirement of calcium in the first week. Preoperative alkaline phosphatase and hemoglobin are independent risk factors for postoperative hypocalcemia. Correcting preoperative electrolyte disorder, improving infection and anemia can reduce the incidence of hypocalcemia after PTX.

MELAS syndrome caused by A3252G mutation in MT-TL1 gene: One case report and literature review / 中华内分泌代谢杂志

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS) is one of the most common inherited mitochondrial diseases. This paper reports a rare mutation associated with MELAS syndrome, the m. 3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR). The 6-year-old girl suffered from recurrent convulsion and lactic acidemia. The mtDNA sequencing detected a variant m. 3252A>G(MT-TL1 gene) in the proband and her maternal relatives. The heteroplasmic levels in peripheral blood and urine sediment were 66.53% and 97.42%, respectively, which were obviously higher than those of her maternal relatives. Together with 3 previously reported cases, the variant m. 3252A>G could be classified pathogenic. All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.

Mechanism of elevated blood pressure in pediatric patients with repaired CoA / 中华胸心血管外科杂志

Objective:To monitor the blood pressure in pediatric patients with coarctation of the aorta (CoA) before and 8 years after surgery, and explore the mechanism of elevated blood pressure in pediatric patients with repaired CoA.Methods:A cohort of 23 pediatric patients who underwent CoA repair between January 2010 and October 2010 in Guangzhou Women and Children's Medical Center was studied. And 20 age-, sex-match patients with isolated ventricular septal defect (VSD) who underwent surgery at the same time, 20 age-, sex-match health patients with normal echocardiographic findings were included in the study. Systolic blood pressure (SBP), diastolic blood pressure (DBP), arm-leg SBP gradient, right carotid intima-media thickness (CIMT), serum transforming growth factor-β1 (TGF-β1) were monitored at baseline(1 day before surgery) and 8-year follow-up (8 years after surgery).Results:There were no differences in SBP and DBP among patients with CoA, patients with VSD and health children at baseline ( P>0.05). But at 8-year follow-up, 2 patients with CoA exhibited hypertension. Not only that, patients with CoA had higher SBP than patients with VSD and health children at 8-year follow-up ( P<0.05). Patients with CoA had higher arm-leg SBP gradient than patients with VSD and health children at baseline ( P<0.01). But there were no differences in arm-leg SBP among patients with CoA, patients with VSD and health children at 8-year follow-up ( P>0.05). Patients with CoA had increased CIMT and higher serum levels of TGF-β1 at baseline and 8-year follow-up ( P<0.05). The preoperative levels of CIMT and serum TGF-β1 in the patients with CoA were highly positively correlated with their levels at 8-year follow-up, respectively ( P<0.01). There was a strong correlation between the levels of CIMT and serum TGF-β1 in patients with CoA, both preoperatively and postoperatively ( P<0.01). The preoperative and postoperative levels of CIMT and serum TGF-β1 in the patients with CoA were highly positively correlated with SBP at 8-year follow-up, respectively( P<0.05). Conclusion:Although surgery can successfully cure the anatomical " stenosis" , patients with CoA have elevated systolic blood pressure than normal people and patients with simple congenital heart disease (such as VSD). And some of the patients with CoA suffer from hypertension at long-term follow-up, even they are normotensive preoperatively. It may be related to vascular remodeling, in which TGF-β signaling pathway may be involved. Monitoring CIMT and TGF-β1 in patients with CoA preoperatively may be significative for prediction for the levels of SBP postoperatively.

Prenatal ultrasonic diagnosis of umbilical cord ulcer: analysis of three cases and literature review / 中华围产医学杂志

Objective:To investigate the features, diagnostic value and clinical significance of prenatal ultrasound for umbilical cord ulcer (UCU).Methods:Ultrasonographic characteristics of three fetuses with UCU diagnosed at Guangzhou Women and Children's Medical Center from January 2014 to June 2020 were reviewed. Relevant articles published from January 1, 1990, to June 1, 2020, were retrieved from Wanfang, CNKI and PubMed databases and analyzed. Likelihood ratio, adjusted Chi-square test and Fisher's exact test were used to analyze the association between the pathological results and fetal outcomes. Results:(1) Among the three fetuses with UCU, two were complicated by upper gastrointestinal obstruction and one by intrauterine infection. Two of them survived and one died after birth. Prenatal ultrasound examination of the umbilical cord and amniotic cavity showed one case was normal, while the other two showing features such as flocculent hypoechoic sign around the umbilical cord, cloudy hyperechoic sign ejecting from the umbilical cord lesion in dynamic observation, exposed umbilical vessels and ribbon-like echo around the umbilical cord. (2) No reported case of UCU had been found in any publications in China. A total of 39 reported cases of UCU complicated by duodenal or jejunal obstruction were retrieved from English literature, among which intrauterine fetal death, neonatal death and live births accounted for 30.8% (12/39), 28.2% (11/39) and 41.0% (16/39), respectively. Six cases with intrauterine abnormalities detected by prenatal ultrasound survived after emergent cesarean section, showing a positive detection rate of 15.4% (6/39), of which three obtained a snapshot of umbilical cord bleeding and three were characterized by lamellar and linear echoes around the amniotic cavity or umbilical cord. Hemorrhagic amniotic fluid was observed in 66.7% (26/39) of the fetuses and decreased heart rate occurred in 35.9%(14/39). The site, number and pathological grade of UCU were not related to the pregnancy outcomes (all P>0.05). Conclusions:Prenatal ultrasound for detecting abnormalities in umbilical cord and amniotic cavity is of a certain value in the diagnosis of UCU. Lamellar and linear echoes around the umbilical cord may be the ultrasonographic characteristics of UCU. The real-time detection of UCU bleeding by prenatal ultrasound can provide direct evidence for timely clinical treatment.

Prenatal ultrasonographic diagnosis and prognosis of fetal meconium peritonitis / 中华围产医学杂志

Objective@#To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations.@*Methods@#The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively. According to the last prenatal ultrasonographic findings, the 31 cases were classified into the following grades: grade 0 (three cases), grade 1 (20 cases, grade 1A: nine cases, grade 1B: three cases, grade 1C: eight cases), grade 2 (seven cases) and grade 3 (one case). All neonates were also divided into two groups: the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery. Statistical methods were independent sample t-test and Chi-square test.@*Results@#(1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2±1.0) weeks, t=-6.202; (36.2±2.7) vs (38.2± 1.0) weeks, t=-2.426; both P<0.05]. (2) The operation rates in cases of grade 0, 1, 2 and 3 groups were 0/3, 55%(11/20), 7/7 and 1/1, respectively (χ2=10.136, P=0.017). However, the operation rates in grade 1A, 1B and 1C groups were 7/9, 1/3 and 3/8, respectively (χ2=3.446, P=0.179).@*Conclusions@#The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade. The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment.

Prenatal ultrasonographic diagnosis and prognosis of fetal meconium peritonitis / 中华围产医学杂志

Objective To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations.Methods The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively.According to the last prenatal ultrasonographic findings,the 31 cases were classified into the following grades:grade 0 (three cases),grade 1 (20 cases,grade 1A:nine cases,grade 1B:three cases,grade 1C:eight cases),grade 2 (seven cases) and grade 3 (one case).All neonates were also divided into two groups:the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery.Statistical methods were independent sample t-test and Chi-square test.Results (1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2± 1.0) weeks,t=-6.202;(36.2±2.7) vs (38.2±1.0) weeks,t=2.426;both P＜0.05].(2) The operation rates in cases of grade 0,1,2 and 3 groups were 0/3,55％(11/20),7/7 and 1/1,respectively (x2=10.136,P=0.017).However,the operation rates in grade 1A,1B and 1C groups were 7/9,1/3 and 3/8,respectively (x2=3.446,P=0.179).Conclusions The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade.The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment.

Genetic analysis of three children with disorders of sex development caused by structural rearrangements of Y chromosome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements.@*METHODS@#The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH).@*RESULTS@#The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3.@*CONCLUSION@#Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.

Application of bioelectrical impedance vector analysis to evaluate volume status of hemodialysis patients with hypertension / 中华肾脏病杂志

Objective:To evaluate the volume status of hemodialysis patients with hypertension by bioelectrical impedance vector analysis, and investigate the effect of high volume status on the prognosis of patients with hypertension.Methods:The study subjects came from the patients with pre-dialysis systolic blood pressure>160 mmHg (mean systolic blood pressure of 6 times of treatment) in the Affiliated BenQ Hospital of Nanjing Medical University. According to the volume status assessed by bioelectrical impedance vector analysis, patients were divided into two groups: fluid overload group and non-overload group (including normal fluid status and fluid decline). The clinical data, laboratory test results, ratio of intracellular and extracellular water (ICW and ECW), body cell mass, lean body mass and the percentage of total body weight, fat percentage of body weight, resistance/height, reactance/height, phase angle and illmarker were compared between two groups. Kaplan-Meier survival curve was used to compare the difference of survival rate between the two groups.Results:A total of 51 hemodialysis patients with hypertension were enrolled in this study, including 19 patients in fluid overload group and 32 patients in non-overload group (27 patients with normal volume status and 5 patients with decreased volume). The levels of albumin, prealbumin, hemoglobin, hematocrit and serum phosphorus in patients with fluid overload decreased significantly compared with non-overload patients (all P<0.05), and the proportion of lymphocytes increased in fluid-overload patients ( P<0.05). The ratio of extracellular water and illmarker index in fluid overload group were significantly higher than those in the other group (both P<0.01). However, phase angle, resistance/height, reactance/height were lower than those in patients with non-overload (all P<0.01). After 20 months of clinical observation, the control rate of blood pressure (pre-dialysis systolic blood pressure<160 mmHg) in fluid overload group was lower than that in the non-overload group (26.3% vs 43.8%), but not statistically significant ( P=0.218). The all-cause mortality rate of patients in the fluid overload group was higher than non-overload group (26.3% vs 15.6%). Kaplan-Meier survival curve analysis suggested that the difference in survival rate between the two groups was not statistically significant. Conclusions:The extracellular fluid of hemodialysis patients with hypertension and fluid overload increases significantly, and the nutritional status evaluation index decreases compared with that of patients without increased volume. Increased proportion of lymphocytes may be related to the micro-inflammatory status. Blood pressure is more difficult to control in hypertensive patients with fluid overload and the clinical prognosis can be worse in patients without increased volume.

Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion / 中华医学遗传学杂志

Objective@#To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.@*Methods@#The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.@*Results@#G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46, XY, del(13)(q32) . SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.@*Conclusion@#Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.

MRI and ultrasound scan in prenatal diagnosis of congenital esophageal atresia / 中华围产医学杂志

Objective To investigate the prenatal imaging features of fetal congenital esophageal atresia and to further evaluate the value of MRI and ultrasound scan in the same condition.Methods This study recruited 12 singleton gravidas whose fetuses were initially suspected with congenital esophageal atresia by prenatal ultrasound scan and then confirmed by surgery and/or upper gastrointestinal angiography after birth at Guangzhou Women and Children's Medical Center from May 2011 to May 2017.Imaging features of prenatal MRI and ultrasonography of the 12 fetuses were retrospectively analyzed.Differences in imaging findings of these two methods were analyzed by Chi-square test.Results All 12 women received prenatal ultrasound examination and eight of them underwent MRI scan when fetal congenital esophageal atresia was suggested by ultrasound.Both ultrasound and MRI were capable of identifing polyhydramnios and absent or small stomach bubble (12/12 and 8/8,respectively).However,MRI was superior to ultrasound in detecting "pouch sign "/"oral filling sign" or poor filling of small intestine (7/8 vs 3/12 and 8/8 vs 0/12,x2 were 7.500 and 20.000,both P＜0.01).While,no statistical difference was shown in detecting curved tracheal between MRI and ultrasound (2/8 vs 0/12,x2=3.333,P=0.067).For Gross Ⅰ or Gross Ⅲ congenital esophageal atresia fetuses,no statistically significant difference was found in their imaging features (all P＞0.05).The total detection rates after 32 weeks of gestation of Gross Ⅰ and Gross Ⅲ cases were both 3/6.Conclusions Prenatal MRI is a vital supplement to ultrasound due to its high display rate of characterized features of congenital esophageal atresia.Thus,the combined use of ultrasound and MRI is of great importance for prenatal diagnosis of this fetal abnormality.

Comparison of perioperative conditions between total and partial colpocleisis for elderly patients suffered from severe pelvic organ prolapse / 中华妇产科杂志

Objective To study perioperative period conditions of total and partial colpocleisis with severe pelvic organ prolapse(POP)in elderly patients. Methods From Jan. 2014 to Oct. 2017286 severe POP elderly patients underwent total or partial colpocleisis. The mean age was(76.0±5.1)years(60-90 years). Of which,220 patients(76.9％, 220/286)presented more than one kind of medical disease. The operative time, intraoperative blood loss, hospital stay after surgery, postoperative complications, preoperative urinary dysuria symptoms of total and partial colpocleisis in treatment of 286 patients were analyzed. Results In 286 patients, 172 patients(60.1％)underwent total colpocleisis and 114 patients(39.9％) underwent partial colpocleisis. Totally 48 patients(16.8％)in 286 patients underwent anti-urinary incontinence procedure. The mean operating time of 286 patients was(67 ± 22)minutes, the mean blood loss was(52 ±57)ml, the mean hospital stay after surgery was(5.9 ± 1.9)days(2-16 days). The rate of postoperative complications was 8.7％(25/286). Those complications including 1 case of bladder injury during operation, 3 cases of postoperative pelvic hematoma, 1 case of intestinal obstruction, 5 cases of atrial fibrillation, 10 cases of postoperative morbidity, 3 cases of pulmonary embolism, 1 case of lower limb thrombosis, 1 case of urinary retention underwent electrical stimulation treatment because of ineffective application of urinary retention catheter. The mean operating time was(67±22)minutes in total colpocleisis and(68±20) minutes in partial colpocleisis(P>0.05), the mean blood loss was(58±62)ml in total colpocleisis and(41± 45)ml in partial colpocleisis(P>0.05), the mean hospital stay after surgery was(5.9 ± 1.9)days in total colpocleisis and(6.0 ± 1.8)days in partial colpocleisis(P>0.05), the rate of post operative complications was 8.1％(14/172) in total colpocleisis and 9.6％(11/114)in partial colpocleisis(P>0.05), respectively;those four of comparisons showed no significant difference. There were 129 patients(45.1％, 129/286)with voiding difficulty before surgery;the mean postvoid residual volumes of the above two operation types of people after operation were(35 ± 43)and(34 ± 41)ml, which showed no significant difference(P>0.05). Conclusions Colpocleisis is a safe and effective management in selected elderly patients with severe POP, who no longer desire to maintain vaginal coital function. There is no significant difference in the perioperative period conditions between total and partial colpocleisis. The choice of surgical procedure is based on factors such as the presence or absence of malignancy in the uterus, age and willingness of the patient, and general condition.

Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.@*METHODS@#The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.@*RESULTS@#G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13)(q32). SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.@*CONCLUSION@#Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.

Effects of different treatment methods on renal anemia in maintenance hemodialysis patients with hyperparathyroidism secondary to uremia / 中华肾脏病杂志

Objective To observe the effects of three treatment methods on renal anemia in maintenance hemodialysis patients with hyperparathyroidism secondary to uremia and analyze the influencing factors of erythropoietin (EPO) dosage. Methods A total of 55 maintenance hemodialysis patients with secondary hyperparathyroidism at the hemodialysis center of Huashan Hospital affiliated to Fudan University from January 2015 to December 2016 were retrospectively divided into three groups according to different treatment methods, parathyroidectomy +forearm transplantation group (surgery group, n=16), cinacalcet treatment group (n=6), and calcitriol treatment group (n=33), respectively. The hemoglobin level and erythropoietin dosage were measured before treatment and in the 3rd month, the 6th month and the 12th month after treatment. The changes of hemoglobin and erythropoietin dosage in the three groups before and after treatment were observed, and the mixed effect model was used to analyze the difference of the change of hemoglobin and erythropoietin dosage among three groups. Multiple linear regression analysis was used to analyze the influencing factors of EPO dosage after one year. Results The levels of intact parathyroid hormone (iPTH) in the surgery group and the cinacalcet group before treatment were significantly higher than that in the calcitriol group (both P<0.05). In the 12th month after treatment, the levels of iPTH decreased significantly in the patients of surgery group and the cinacalcet group compared with those before treatment (both P<0.05). The levels of serum alkaline phosphatase, serum calcium and serum phosphorus in the surgery group also decreased significantly compared with those before treatment (all P<0.05). The mixed effect model analysis showed that the hemoglobin level of surgery group was on an upward trend after the treatment, and the overall level was significantly higher than cinacalcet and calcitriol treatment group (P=0.007). There was no significant difference in the dosage change of erythropoietin (EPO) in the three groups over time. However, the intra-group comparison of the mixed effect model showed that the dosage of EPO in the 12th month was significantly lower than that of before the treatment in surgery group (P=0.007). Multiple linear regression analysis showed that dialysis vintage (B=-0.064, P=0.012) and ferritin ≥ 500 μg/L (B=0.645, P=0.032) were independent influencing factors of EPO dosage. The longer the dialysis vintage, the less EPO dosage, and more EPO dosage were observed in patients with ferritin ≥ 500 μg/L. Conclusions Parathyroidectomy and forearm transplantation is more effective in reducing EPO dosage and improving renal anemia in maintenance hemodialysis patients with secondary hyperparathyroidism. Dialysis vintage and ferritin are independent influencing factors for the dosage of EPO.

Advance in clinical research on Antley-Bixler syndrome / 中华医学遗传学杂志

Antley-Bixler syndrome (ABS) is a rare childhood disorder affecting skeletal development. Some patients may also have genital anomalies and impaired steroidogenesis. Diagnostic criteria for ABS has not been fully established, though craniosynostosis, midface hypoplasia and elbow synostosis are minimum requirements. The etiology of ABS is complex, which included autosomal dominant form caused by FGFR2 gene mutations, autosomal recessive form caused by POR gene mutations, and high oral dose of fluconazole during pregnancy. Patients may die from dyspnea due to upper respiratory tract obstruction. This review summarizes research progress on the clinical features, etiology, differential diagnosis, treatment and prevention of ABS.

The investigation and analysis of college students' awareness, cognition and usage of shared courses on the internet / 中华医学教育探索杂志

Objective To investigate college students' awareness and cognition of 84 shared courses on the Internet and analyze the discrepancies between different ethnicity and majors in Xinjiang Medical University. Methods Purposive sampling was adopted with questionnaire of 1 448 students of 26 classes in Xinjiang Medical University. The survey aimed to investigate students' awareness and cognition of these In- ternet courses. Obtained data were statistically analyzed using SPSS 13.0, and the test level α=0.05. Result The hits of preventative medicine, Chinese medicine, clinical medicine and pharmacy were 19.0%, 33.3%, 35.7% and 11.9% respectively. Among the courses whose hits exceeded 50,000, clinical medicine accounted for 50%, preventive medicine for 21.4%, Chinese medicine and pharmacy for 14.3% respectively, there being no significant difference in overall hits (P>0.05). 90.1% of the surveyed students knew shared courses on the Internet, there being no difference between gender, ethnicity and profession (P>0.05). 89.8% had an accurate understanding of the concept of shared courses on the Internet, there being differences between gender and major ( χ2gender=11.013, P=0.026; χ2major=136.08, P=0.000) without significant differences in ethnicity ( χ2=11.378, P=0.497). 71.9% of the students used shared courses on the Internet as reference resources for the course study, 46.6% for the learning content, 35.5%for the understanding of other resources related to the course, 30.1% for lab-class and exercises, 10% for discussion on online course forum. The Han and Kazak students used the courses as a study, experiment and exercise tool, while the Uyghur and Kazak mainly used these for learning and discussion on the forum, there being differences in ethnicity ( χ2=26.889, P=0.001); the usage rate of the courses of preventive medicine students is higher, whereas pharmacy students relatively low, there being significant differences in major ( χ2=38.01, P=0.004). The Kazakh and Uygur students mainly used the courses to formulate learning plans, and the Han students to learn the current curriculum. 44.7% of preventive medicine students used the courses to improve their abilities, which was significantly higher than those of other majors. Only 18.4% and 1% of pharmacy students used the courses to formulate learning plans and to improve their abilities, which were both lower than those of other majors, showing ethnic and professional differences ( χ2ethnic=37.654, P=0.001; χ2major=73.68, P=0.000). Conclusion Students' awareness of shared courses on the Internet is high and their cognition is accurate. However, there are differences in the ways and purposes of the employment of the courses between different ethnicity and majors. The main reason may be related to major, the quality of the courses, as well as the lack of effec-tive supervision and evaluation system, suggesting that the management department in our university should strengthen the supervision and evaluation of the courses and give full play to the important role of shared courses on the Internet.