Influence of autologous adipose stem cell matrix gel on wound healing and scar hyperplasia of full-thickness skin defects in rabbit ears / 中华烧伤杂志

Objective: To investigate the influence of autologous adipose stem cell matrix gel on wound healing and scar hyperplasia of full-thickness skin defects in rabbit ears, and to analyze the related mechanism. Methods: Experimental research methods were adopted. The complete fat pads on the back of 42 male New Zealand white rabbits aged 2 to 3 months were cut to prepare adipose stem cell matrix gel, and a full-thickness skin defect wound was established on the ventral side of each ear of each rabbit. The left ear wounds were included in adipose stem cell matrix gel group (hereinafter referred to as matrix gel group), and the right ear wounds were included in phosphate buffer solution (PBS) group, which were injected with autologous adipose stem cell matrix gel and PBS, respectively. The wound healing rate was calculated on post injury day (PID) 7, 14, and 21, and the Vancouver scar scale (VSS) scoring of scar tissue formed on the wound (hereinafter referred to as scar tissue) was performed in post wound healing month (PWHM) 1, 2, 3, and 4. Hematoxylin-eosin staining was performed to observe and measure the histopathological changes of wound on PID 7, 14, and 21 and the dermal thickness of scar tissue in PWHM 1, 2, 3, and 4. Masson staining was performed to observe the collagen distribution in wound tissue on PID 7, 14, and 21 and scar tissue in PWHM 1, 2, 3, and 4, and the collagen volume fraction (CVF) was calculated. The microvessel count (MVC) in wound tissue on PID 7, 14, and 21 and the expressions of transforming growth factor β1 (TGF-β1) and α smooth muscle actin (α-SMA) in scar tissue in PWHM 1, 2, 3, and 4 were detected by immunohistochemical method, and the correlation between the expression of α-SMA and that of TGF-β1 in scar tissue in matrix gel group was analyzed. The expressions of vascular endothelial growth factor (VEGF) and epidermal growth factor (EGF) in wound tissue were detected by enzyme-linked immunosorbent assay on PID 7, 14, and 21. The number of samples at each time point in each group was 6. Data were statistically analyzed with analysis of variance for repeated measurement, analysis of variance for factorial design, paired sample t test, least significant difference test, and Pearson correlation analysis. Results: On PID 7, the wound healing rate in matrix gel group was (10.3±1.7)%, which was close to (8.5±2.1)% in PBS group (P>0.05). On PID 14 and 21, the wound healing rates in matrix gel group were (75.5±7.0)% and (98.7±0.8)%, respectively, which were significantly higher than (52.7±6.7)% and (90.5±1.7)% in PBS group (with t values of 5.79 and 10.37, respectively, P<0.05). In PWHM 1, 2, 3, and 4, the VSS score of scar tissue in matrix gel group was significantly lower than that in PBS group (with t values of -5.00, -2.86, -3.31, and -4.45, respectively, P<0.05). Compared with the previous time point within the group, the VSS score of scar tissue at each time point after wound healing in the two groups was significantly increased (P<0.05), except for PWHM 4 in matrix gel group (P>0.05). On PID 7, the granulation tissue regeneration and epithelialization degree of the wounds between the two groups were similar. On PID 14 and 21, the numbers of fibroblasts, capillaries, and epithelial cell layers in wound tissue of matrix gel group were significantly more than those in PBS group. In PWHM 1, 2, 3, and 4, the dermal thickness of scar tissue in matrix gel group was significantly thinner than that in PBS group (with t values of -4.08, -5.52, -6.18, and -6.30, respectively, P<0.05). Compared with the previous time point within the group, the dermal thickness of scar tissue in the two groups thickened significantly at each time point after wound healing (P<0.05). Compared with those in PBS group, the collagen distribution in wound tissue in matrix gel group was more regular and the CVF was significantly increased on PID 14 and 21 (with t values of 3.98 and 3.19, respectively, P<0.05), and the collagen distribution in scar tissue was also more regular in PWHM 1, 2, 3, and 4, but the CVF was significantly decreased (with t values of -7.38, -4.20, -4.10, and -4.65, respectively, P<0.05). Compared with the previous time point within the group, the CVFs in wound tissue at each time point after injury and scar tissue at each time point after wound healing in the two groups were significantly increased (P<0.05), except for PWHM 1 in matrix gel group (P>0.05). On PID 14 and 21, the MVC in wound tissue in matrix gel group was significantly higher than that in PBS group (with t values of 4.33 and 10.10, respectively, P<0.05). Compared with the previous time point within the group, the MVC of wound at each time point after injury in the two groups was increased significantly (P<0.05), except for PID 21 in PBS group (P>0.05). In PWHM 1, 2, 3, and 4, the expressions of TGF-β1 and α-SMA in scar tissue in matrix gel group were significantly lower than those in PBS group (with t values of -2.83, -5.46, -5.61, -8.63, -10.11, -5.79, -8.08, and -11.96, respectively, P<0.05). Compared with the previous time point within the group, the expressions of TGF-β1 and α-SMA in scar tissue in the two groups were increased significantly at each time point after wound healing (P<0.05), except for the α-SMA expression in matrix gel group in PWHM 4 (P>0.05). There was a significantly positive correlation between the expression of α-SMA and that of TGF-β1 in scar tissue in matrix gel group (r=0.92, P<0.05). On PID 14 and 21, the expressions of VEGF (with t values of 6.14 and 6.75, respectively, P<0.05) and EGF (with t values of 8.17 and 5.85, respectively, P<0.05) in wound tissue in matrix gel group were significantly higher than those in PBS group. Compared with the previous time point within the group, the expression of VEGF of wound at each time point after injury in the two groups was increased significantly (P<0.05), and the expression of EGF was decreased significantly (P<0.05). Conclusions: Adipose stem cell matrix gel may significantly promote the wound healing of full-thickness skin defects in rabbit ears by promoting collagen deposition and expressions of VEGF and EGF in wound tissue, and may further inhibit the scar hyperplasia after wound healing by inhibiting collagen deposition and expressions of TGF-β1 and α-SMA in scar tissue.

Risk Assessment before Conducting Clinical Trials of Medical Devices / 中国医学伦理学

Due to the rapid development of new medical devices and the national policy adjustment of medical device review and approval, the difficulty of clinical trial institution and ethics committee in the risk assessment of medical device clinical trials has greatly increased. By sorting out the legal norms, standards and safety evaluation materials of medical devices, this paper systematically summarized and suggested the existing risks in clinical trials of medical devices from seven aspects, including the collection and utilization of biological sample, site environment safety, information security, product production and inspection, use of device, clinical trial design, and technical capabilities, with a view to providing a reference basis for the sponsors, clinical trial institutions, and ethics committees to scientifically establish a risk assessment system for medical devices before clinical trials, thereby reducing potential risks of compliance and safety during the clinical trial process.

Focus of Ethical Review on the Research of New Generation Artificial Intelligence Independent Software Based on Deep Learning Algorithm / 中国医学伦理学

By sorting out the research of new generation of artificial intelligence (AI) independent software reviewed by medical ethic committee of a grade A tertiary hospital in Beijing from January 2017 to November 2021, this paper analyzed and summarized the common problems involved in multiple dimensions, such as the integrity of the protocol design, protection of the rights and interests of the subjects, the data using and storing, and proposed that ethic committee should pay special attention to the protocol integrity, data security, risk assessment, track review, and other aspects different from conventional clinical research, thus providing a idea for ethical review of new generation AI independent software research.

Postoperative longitudinal changes of serum calcium level and its influencing factors in patients with primary hyperparathyroidism / 中华普通外科杂志

Objective:To compare the changes of serum calcium level before and after surgical resection in patients with primary hyperparathyroidism.Methods:Two hundred and seventy-one patients with primary hyperparathyroidism were enrolled from Dec 1992 to Dec 2020 in Beijing Jishuitan Hospital. Serum calcium concentrations were measured before operation, 20 min during surgery, then 2 weeks 1-6 months , 7-12 months and 1 year respectively after operation. The baseline data of postoperative serum calcium such as sex, age, other genetic endocrine diseases, osteopathia and urolithiasis were calculated. The generalized estimation equation was used to analyze the changes of serum calcium in different types of patients before and after operation.Results:The most common postoperative hypocalcemia occurred within 2 weeks, and it occurred frequently half a year after surgery. There was no significant difference in blood calcium between male patients ( t=0.875, P=1.000) and patients with bone lesions ( t=0.034, P=3.049) from 1 to 6 months after surgery and 2 weeks after surgery. Blood calcium level in patients aged 15-35 years old from 1 to 6 months ( t=0.239, P=1.000) , from 7 to 12 months ( t=1.380, P=0.935) and 2 weeks after surgery was not statistically different. The change of bone mineral density was correlated with the change of blood calcium after operation ( F=6.895, P=0.004). Conclusions:The incidence of hypocalcemia was the highest in patients with hyperparathyroidism 2 weeks after surgery, and the blood calcium level was stable within the normal range 1 year later. The blood calcium value of male patients was still at a lower level than that of female patients within six months after surgery. In patients with bone disease, the blood calcium value was lower and recovered slowly 2 weeks after surgery. The blood calcium value of patients aged 15-35 was at a low level within 1 year after surgery.

Evaluation of delayed laparoscopic cholecystectomy after percutaneous transhepatic gallbladder drainage in the management of acute cholecystitis / 中华普通外科杂志

Objective:To evaluate delayed laparoscopic cholecystectomy (DLC) after percutaneous transhepatic gallbladder drainage (PTGBD) in acute cholecystitis.Methods:Clinical data of 64 patients who were diagnosed moderate (grade Ⅱ) acute cholecystitis by the 2018 Tokyo Guidelines in acute phase and underwent delayed LC at our hospital from Jan 2018 to Jan 2021 were compared between two groups ie PTGBD treatment (21 cases)in acute stage before DLC and DLC without PTGBD group (43 cases). The difficulty score of TG18 was used to evaluated every surgical procedure of the cases by reviewing the operation videos.Results:Patients in DLC after PTGBD group had a longer hospital stay and operation time, more blood lose and higher difficulty score than the DLC without PTGBD group(all P<0.05). There was no statistically significant difference in the conversion rate and morbidity rate between the two groups( P>0.05). Conclusion:This study fails to show there is any if ever benefit of PTGBD before DLC over DLC without PTGBD in the management of Grade Ⅱ acute cholecystitis.

Value of ultrasonography, radionuclide imaging and CT in preoperative location diagnosis of primary hyperparathyroidism / 中华普通外科杂志

Objectiv:To evaluate ultrasound, radionuclide imaging and CT in preoperative localization diagnosis of primary hyperparathyroidism (PHPT).Method:A total of 170 PHPT patients admitted to the hospital between Jan 1992 and Dec 2020 were analyzed retrospectively. The preoperative localization diagnostic efficacy of ultrasonography, radionuclide and CT alone and in combination was compared in groups.Results:The overall sensitivity of ultrasound, radionuclide and CT were 82.13%,80.43% and 75.74%. For normal positioned parathyroid adenoma: as for sensitivity of location diagnosis, ultrasound (86.67%) was higher than radionuclide (81.82%, P<0.05) and CT (80.59%, P<0.05), ultrasound/CT parallel test (94.70%, P<0.05) was higher than ultrasound alone. For specificity of location diagnosis, radionuclide (97.78%) was higher than ultrasound (91.62%) and CT (93.39%), both ultrasound/radionuclide series tests (99.00%, P<0.001)and ultrasound/CT series tests (96.94%, P<0.001) were higher than ultrasound alone. In case of ectopic parathyroid adenoma and parathyroid hyperplasia: the sensitivity and specificity of radionuclide seemed higher than ultrasound and CT. Conclusions:Ultrasound is the first choice for preoperative location diagnosis of PHPT. Ultrasound combined with radionuclide or CT can significantly improve the diagnostic efficiency of parathyroid lesions.

The Influence of Bcl-3 Expression on Cell Migration and Chemosensitivity of Gastric Cancer Cells via Regulating Hypoxia-Induced Protective Autophagy

PURPOSE: Gastric cancer is a highly metastatic malignant tumor, often characterized by chemoresistance and high mortality. In the present study, we aimed to investigate the role of B-cell lymphoma 3 (Bcl-3) protein on cell migration and chemosensitivity of gastric cancer.MATERIALS AND METHODS: The gastric cancer cell lines, AGS and NCI-N87, were used for the in vitro studies and the in vivo studies were performed using BALB/c nude mice. Western blotting, wound healing assay, Cell Counting Kit-8 assay, immunohistochemistry, and terminal deoxynucleotidyl transferase dUTP nick end labeling assay were used to evaluate the role of Bcl-3 in gastric cancer.RESULTS: We found that the protein expression of hypoxia (HYP)-inducible factor-1α and Bcl-3 were markedly upregulated under hypoxic conditions in both AGS and NCI-N87 cells in a time-dependent manner. Interestingly, small interfering RNA-mediated knockdown of Bcl-3 expression affected the migration and chemosensitivity of the gastric cancer cells. AGS and NCI-N87 cells transfected with si-RNA-Bcl-3 (si-Bcl-3) showed significantly reduced migratory ability and increased chemosensitivity to oxaliplatin, 5-fluorouracil, and irinotecan. In addition, si-Bcl-3 restored the autophagy induced by HYP. Further, the protective role of si-Bcl-3 on the gastric cancer cells could be reversed by the autophagy inducer, rapamycin. Importantly, the in vivo xenograft tumor experiments showed similar results.CONCLUSIONS: Our present study reveals that Bcl-3 knockdown inhibits cell migration and chemoresistance of gastric cancer cells through restoring HYP-induced autophagy.

Comparisons of aortic anatomy between aortic stenosis and aortic regurgitation / 中国介入心脏病学杂志

Objective To compare aortic root anatomical characteristics between severe aortic valve stenosis (AS) and aortic regurgitation (AR) patients, and to provide useful information for transcatheter aortic valve replacement (TAVR) device designs and procedural techniques for treatment of AR. Methods Consecutive patients admitted between April 2014 to May 2016 with severe AS or AR and planned to undergo transcatheter aortic valve replacement were included. There were a total of 57 AR and 113 AS patients. All patients underwent multi-detector computed tomographic imaging and echocardiography examinations. Results The mean aortic annulus diameter in AR patients was slightly but significantly larger than AS patients[ (26.4±3.7) mm vs. (25.2±2.9) mm, P=0.001]. The mean diameters of the ascending aorta[ (38.3±6.9) mm vs. (33.9±6.7) mm, P<0.001]and Valsalva sinus[ (38.9±6.9) mm vs. (32.7±4.5) mm, P<0.001] in AR patients were larger than in AS patients. The left coronary ostia height was of no significant difference between the 2 groups [ (12.5±3.7) mm vs. (13.4±3.2) mm, P=0.08] and the right coronary ostia height was higher in the AR group than in the AS group [ (17.5±5.0) mm vs. (15.3±3.3) mm, P=0.001]. Conclusions The anatomical aortic root data from patients with AS or AR in the present study may provide useful information for transcatheter aortic valve replacement device designs and procedural techniques for treatment of AR.

A prospective randomized controlled study of different doses of oral propranolol in infantile hemangiomas / 中华整形外科杂志

Objective@#To study the efficacy of 1 mg·kg-1·d-1 and 2.0 mg·kg-1·d-1 of propranolol in the treatment of infantile hemangiomas, so as to provide an ideal dosage for clinical treatment.@*Methods@#From September 2015 to October 2016, there were 89 patients in accordance with the inclusion criteria of infantile hemangiomas. According to randomized and controlled principle, the patients were assigned to receive two propranolol regimens, Group A(n=45): propranolol at a dose of 1 mg·kg-1·d-1; Group B(n=44): propranolol at a dose of 2 mg·kg-1·d-1. 1 or 2 mg of propranolol base per kilogram per day, divided into two doses.The first dose was taken at 9, next at 15.The effective rate, cure rate and adverse effect rate were compared at the six months after treatment. The duration of the treatment was compared after 12 months′ treatment, and the recurrence rate was compared at the three months after being cured.The data were statistically processed with SPSS 22.0. The sample rate was compared with χ2 test, and the data were compared with t test. P<0.05 was statistically significant difference.@*Results@#Group A: Treatment for 6 months, 45 children were evaluated as follows: the effective rate was 91.1%(41/45), the cure rate was 60%(27/45). The incidence of adverse reactions was 13.3%(6/45). The cure rate of group A at 12 months was 86.7%(39/45). The duration of treatment was 7.6±2.7 months.The recurrence rate was 9.5%(4/42). Group B: Treatment for 6 months, 44 children were evaluated as follows: the effective rate was 90.9%(40/44), the cure rate was 72.7%(32/44). The incidence of adverse reactions was 15.9%(7/44). The cure rate of group B at 12 months was 88.6%(39/44). The duration of treatment was 6.2±1.9 months. The recurrence rate was 11.9%(5/42). The effective rate of the two groups at 6 months was not statistically significant(χ2=2.583, P=0.461). The cure rate of the two groups at 6 months was statistically significant(χ2=8.339, P=0.004). The incidence of adverse effects was not statistically significant(χ2=0.118, P=0.731). The cure rate of the two groups at 12 month was not statistically significant(χ2=0.080, P=0.778). The duration of treatment between the groups was statistically significant (t=0.290, P=0.009). The recurrence rate of the two groups after 3 months withdrawal was no statistical difference(χ2=0.124, P=0.724).@*Conclusions@#The propranolol doses at 1 mg·kg-1·d-1 and 2 mg·kg-1·d-1 in the treatment of infantile hemangiomas are safe and effective. The propranolol dose at 1 mg·kg-1·d-1 doesn′t decrease the effective and cure rate, not increase the recurrence rate in infantile hemangiomas. Low dose at 1 mg·kg-1·d-1 can be used as a common dose of propranolol in infantile hemangiomas.

Regulatory Actions of Intestines-unblocking and Turbid-purging Recipe on Colonic 5-Hydroxytryptamine and Its Receptor in Rats with Constipation-dominant Irritable Bowel Syndrome / 广州中医药大学学报

Objective To investigate the regulatory actions of Intestines-unblocking, Turbid-purging Recipe (ITR) on colonic 5-hydroxytryptamine (5-HT) and its receptor 5-hydroxytryptamine 3 (5-HT3) in rats with constipation-dominant irritable bowel syndrome (IBS-C), and to explore the therapeutic mechanism of ITR in treating IBS-C. Methods Forty-two male SD rats were randomly divided into 6 groups, namely normal group, model group, western medicine group, high-, middle- and low-dose Chinese medicine groups, 7 rats in each group. IBS-C rat model was established by intragastric administration of ice water. After establishment of the model, western medicine group was given intragastric administration of Cisapride Tablets (at the dosage of 3.6 mg·kg-1·d-1), Chinese medicine groups were given intragastric administration of various dosages of ITR granules (18.5, 9.25, 4.625 g·kg-1·d-1 respectively) , and the model group was given intragastric administration of normal saline, the treatment lasting 14 d. The rats in various groups were given normal feeding and drinking. After treatment, HE staining method was used to observe pathological changes in the intestinal tissue, immunohistochemistry method was used to observe the expression levels of intestinal 5-HT and 5-HT3 receptor. Results Compared with the normal group, the expression level of rat intestinal 5-HT was increased (P < 0.05) and that of 5-HT3 receptor was decreased (P < 0.05) in the model group and the medication groups. Compared with the model group, 5-HT expression level was decreased significantly (P<0.05) and 5-HT3 receptor expression level was increased (P < 0.05) in the medication groups, and the improvement of the middle-dose Chinese medicine group was more obvious (P < 0.05). Conclusion ITR has therapeutic efficacy for IBS-C rats through lowering 5-HT expression and increasing 5-HT3 receptor expression, which results into the improvement of intestinal sensitivity and abnormal dynamic of the rats.

Effect of Chaijin-Huayu decoction combined with minimally invasive surgery for the patients with cholecystic polyposis / 国际中医中药杂志

Objective To observe the effect of Chaijin-Huayu decoction combined with endoscopic minimally invasive for gallbladder polyposis and its effect on quality of life.Methods A total of 91 patients with gallbladder polyposis were selected from March 2014 to early March 2017 outpatients and wards of Hebei Provincial Traditional Chinese Medicine Hospital.According to the method of random number table,the paitents were randomly divided into the observation group (n=46) and the control group (n=45).After three courses of treatment,the total effective rate,TCM symptom score and quality of life were observed in both groups,and the postoperative complications of the two groups were compared.Results After three courses of treatment,the total effective rate of the observation group was 91.3％ (42/46),while that of the control group was 88.9％ (40/45).There was no significant difference between the two groups (x2=0.149,P=0.592).In the observation group,the scores of subcardiac pycnosis and belching,right flank distended pain and burp were lower than those of the control group (t were 2.431,3.560 and 2.891 respectively,all P＜0.05).In the SF-36 scale,the scores of mental health,social function,physical pain,physiological function,emotional function,vitality,physiological function and overall health of the observation group were higher than those of the control group (t were 2.342,2.831,2.765,2.545,2.485,2.650,2.582,2.325 respectively,all P＜0.05);The incidence of surgical complications of the observation group was 2.2％ (1/46),while that of the control group was 17.8％ (8/45),and the difference between the two groups was statistically significant (x2=0.149,P＞0.05).Conclusions Chaijin-Huayu decoction combined with minimally invasive choledochoplasty could relieve symptoms,improve quality of life and reduce postoperative complications in patients with gallbladder polyposis.

Diagnosis of a case with recurrent pregnancy loss resulted from maternal balanced translocation by chromosomal microarray analysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic basis for a couple with recurrent pregnancy loss by using single nucleotide polymorphism array (SNP array), chromosomal karyotype analysis, and fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>A SNP array was used for analyzing sample derived from the abortic tissue. The couple was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip assay. Based on the results, specific probes were designed to verify the chromosomal aberration by FISH.</p><p><b>RESULTS</b>The SNP array showed a 16.6 Mb duplication at 11q23.3-q25 and a 11 Mb deletion at 15q26.1-q26.3 in the abortic tissue. Combined with high-resolution G-banding analysis, the karyotype of the wife was verified to be 46,XX,t(11;15)(q24;q26.2). FISH analysis using probes for 11pter/11qter and 15qter confirmed that she has carried a balanced translocation, while the fetus has carried a derivative chromosome 15 derived from the maternal translocation.</p><p><b>CONCLUSION</b>SNP array can facilitate detection of balanced translocations which are difficult to be identified by conventional chromosomal karyotyping. The method does not necessitate cell culture and can well suit genetic analysis for couples with recurrent pregnancy loss.</p>

Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To carry out mutation analysis for a pedigree affected with maple syrup urine disease (MSUD).</p><p><b>METHODS</b>Clinical data of the proband was collected. Potential mutations of the BCKDHA and BCKDHB genes were analyzed by PCR and Sanger sequencing. Prenatal diagnosis was provided to a high-risk fetus at 12th gestational week through chorionic villus sampling.</p><p><b>RESULTS</b>Two heterozygous mutations c.284G>C (p.Gly95Ala) and c.853C>T (p.Arg285*) of the BCKDHB gene were identified in the proband, which were inherited from his mother and father, respectively. Among these, c.853C>T (p.Arg285*) was known to be pathogenic, while c.284G>C (p.Gly95Ala) was a novel mutation. Prenatal diagnosis showed that the fetus has inherited the c.284G>C (p.Gly95Ala) mutation from its mother but no mutation from its father. After birth, the infant appeared to be healthy.</p><p><b>CONCLUSION</b>The compound heterozygous mutations c.284G>C (p.Gly95Ala) and c.853C>T (p.Arg285*) probably underlie the pathogenesis of MUSD in the proband. Mutation analysis can facilitate prenatal diagnosis and genetic counseling for the affected families.</p>

Genetic and prenatal diagnosis of a retinitis pigmentosa pedigree / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa.</p><p><b>METHODS</b>High-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. Suspected mutation was verified with PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>The proband was found to have carried a c.570_571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome. All female carriers of the pedigree were heterozygous, while all affected males were hemizygous for the same mutation.</p><p><b>CONCLUSION</b>The inheritance pattern of this retinitis pigmentosa pedigree was X-linked recessive. The c.570_571 ins GAAGATGCTGT insertional mutation of the RP2 gene probably underlies the disease.</p>

Prenatal diagnosis and pregnancy outcomes in 42 fetuses with pleural effusion / 中华围产医学杂志

Objective To investigate the value of prenatal diagnosis in identifying the etiology and predicting the prognosis of fetal pleural effusion (FPE).Methods Forty-two cases of FPE were recruited in this study from January 2012 to September 2016.Ultrasound scan and genetic tests were performed on all fetuses.Seven fetuses with severe FPE were given pleurocentesis.Pregnancy outcomes of all the fetuses were followed up.Results FPE was commonly accompanied with other abnormalities,such as ascites,hydrops,hydramnion,hygroma colli,abnormal posturing,joint contractures,arrhythmia and micromandible.Chromosomal abnormality was detected in 11 fetuses (26.2％),of which ten were further confirmed by karyotype analysis,including six with 45,X,three trisomy 21 and one trisomy 18,and one was detected with a 9.83 Mb uniparental disomy (UPD) located at 12q24.21q24.31 by gene chip.One fetus was diagnosed with--SEA/--SEA thalassemia.All of the 12 families decided to terminate the pregnancies after genetic counseling.Among the other 30 fetuses,seven with severe FPE and normal karyotype underwent pleurocentesis.Five of the seven cases were with favorable outcomes,one with progressive hydrops was aborted and one neonate with severe hydrops died after birth.Spontaneous regression of FPE with good outcome was found in two cases.Parents of the other 21 fetuses chose to terminate the pregnancies.Conclusions Prenatal diagnosis is important to identify the etiology and predict the outcome of FPE.Chromosomal abnormality is a relatively common cause of FPE,and 45,X and trisomy 21 are the most common abnormalities.Intrauterine intervention is beneficial for FPE without chromosomal or other definite genetic abnormalities.Genetic test may be of great value for pregnant counseling.

Genetic analysis of a patient featuring developmental delay and mental retardation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic cause for a child featuring developmental delay and mental retardation.</p><p><b>METHODS</b>The child was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip.</p><p><b>RESULTS</b>The father of the patient had a normal karyotype. The mother had a karyotype of 46, XX, t(12;15)(p13.3;q13). The child had a karyotype of 45, XY, der(12)t(12;15)(p13.3;q13)mat, -15. SNP array analysis showed that the child has deletions in 12p13.31-p13.33 and 15q11.2-q13.2. But no deletion or duplication was detected in his mother.</p><p><b>CONCLUSION</b>The unbalanced translocation involving chromosomes 12 and 15 probably accounts for the mental retardation in the child. SNP array is useful for the detection of chromosomal rearrangements and genetic counseling.</p>

SNP array and cytogenetic analysis of a patient with unexplained mental retardation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze a patient with unexplained mental retardation by using three primer PCR (TP-PCR) and single nucleotide polymorphisms array (SNP-array), and to correlate the genotype with phenotype.</p><p><b>METHODS</b>Peripheral blood sample was taken from the patient for the extraction of DNA. TP-PCR was used to determine the copy number of CGG repeats in the 5'UTR of the FMR1 gene. SNP array was used for high resolution analysis of the patient's genome.</p><p><b>RESULTS</b>TP-PCR has shown no abnormal amplification of CGG in the 5'UTR of FMR1 gene. Hence, Fragile X syndrome was excluded as the cause for mental retardation. SNP array analysis has identified a 0.93 Mb duplication at 7q36.1-q36.2 and a 2.2 Mb deletion at 12p13.1-p13.2 in the patient.</p><p><b>CONCLUSION</b>The microduplication and microdeletion discovered in the patient probably underlies the intelligence disability. The high-resolution SNP array can provide accurate information for the identification of pathogenesis, and is the preferred method for the diagnosis of unexplained mental retardation.</p>

Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency.</p><p><b>METHODS</b>Polymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted.</p><p><b>RESULTS</b>STS sites PCR showed that there was no deletion in the AZF zone. G-banding analysis indicated an unknown structural change in chromosome X, which was verified by single nucleotide polymorphism array (SNP array) as a 5.4 Mb deletion in Xp22.31-p22.33.</p><p><b>CONCLUSION</b>The Xp22.31-p22.33 deletion probably underlies the Kallman syndrome and steroid sulfatase defect in the patient.</p>

Detection and genetic counseling of F8 gene inversions for patients with severe hemophilia A / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Inversions of intron 1 (Inv1) or intron 22 (Inv22) of the coagulation factor VIII gene (F8) may be found in 40%-50% of patients with severe hemophilia A. Such inversions cannot be detected by conventional sequencing. Due to homologous recombination, family-based linkage analysis may yield false positive or false negative results. In this study, Inverse-shifting PCR (IS-PCR) was used to detect potential inversions in two families affected with hemophilia A.</p><p><b>METHODS</b>Peripheral venous blood, fetal amniotic fluid and fetal chorionic cells were harvested for genome DNA extraction. IS-PCR was used to detect Inv1 or Inv22 detection or its subtypes.</p><p><b>RESULTS</b>IS-PCR has accurately detected Inv22 and Inv1 in both families and verified the subtypes of Inv22.</p><p><b>CONCLUSION</b>Carriers of Inv22 or Inv1 may be precisely detected with IS-PCR. The results have provided valuable information for genetic counseling and prenatal diagnosis for the affected families.</p>

Genetic analysis for a family affected with hemophilia type A due to a large deletion of F8 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of F8 gene in a family affected with hemophilia type A.</p><p><b>METHODS</b>Inverse-shifting PCR (IS-PCR), next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and short tandem repeat (STR) assays were used.</p><p><b>RESULTS</b>IS-PCR showed that no inversion of F8 gene has occurred in the family. NGS detected no point mutation or small InDel in the proband, but suggested that the exon 2 of the F8 gene may be deleted. MLPA also showed that exon 2 of the F8 gene was absent in the proband, while the carriers were heterozygous for the deletion, though STR analysis yielded a paradoxical result.</p><p><b>CONCLUSION</b>NGS analysis has identified a large deletion of exon 2 of the F8 gene in a family affected with hemophilia A. Discretion is required when STR analysis was used for carrier screening and antenatal diagnosis. Combination of multiple methods can improve the accuracy for the detection of F8 gene mutations.</p>