Neutralizing Antibody Responses against Five SARS-CoV-2 Variants and T Lymphocyte Change after Vaccine Breakthrough Infections from the SARS-CoV-2 Omicron BA.1 Variant in Tianjin, China: A Prospective Study / 生物医学与环境科学（英文）

OBJECTIVE@#To investigate whether Omicron BA.1 breakthrough infection after receiving the SARS-CoV-2 vaccine could create a strong immunity barrier.@*METHODS@#Blood samples were collected at two different time points from 124 Omicron BA.1 breakthrough infected patients and 124 controls matched for age, gender, and vaccination profile. Live virus-neutralizing antibodies against five SARS-CoV-2 variants, including WT, Gamma, Beta, Delta, and Omicron BA.1, and T-lymphocyte lymphocyte counts in both groups were measured and statistically analyzed.@*RESULTS@#The neutralizing antibody titers against five different variants of SARS-CoV-2 were significantly increased in the vaccinated population infected with the Omicron BA.1 variant at 3 months after infection, but mainly increased the antibody level against the WT strain, and the antibody against the Omicron strain was the lowest. The neutralizing antibody level decreased rapidly 6 months after infection. The T-lymphocyte cell counts of patients with mild and moderate disease recovered at 3 months and completely returned to the normal state at 6 months.@*CONCLUSION@#Omicron BA.1 breakthrough infection mainly evoked humoral immune memory in the original strain after vaccination and hardly produced neutralizing antibodies specific to Omicron BA.1. Neutralizing antibodies against the different strains declined rapidly and showed features similar to those of influenza. Thus, T-lymphocytes may play an important role in recovery.

Application of OCTA combined with microperimetry in macular edema secondary to retinal vein occlusion / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM:To quantitatively evaluate the macular microvasculature and visual function in patients with macular edema secondary to retinal vein occlusion(RVO)by optical coherence tomography angiography(OCTA)combined with microperimetry. <p>METHODS: Totally 36 patients(36 eyes)with monocular RVO complicated with macular edema were enrolled, including 15 patients(15 eyes)in central retinal vein occlusion(CRVO)group and 21 patients(21 eyes)in branch retinal vein occlusion(BRVO)group(all with superior temporal vein occlusion), 15 age-matched healthy subjects(24 eyes)were included as controls. OCTA was used to scan macular retina in the range of 3mm×3mm in all three groups and measure the vascular density(VD)of superficial capillary plexus(SCP)and deep capillary plexus(DCP), the area of foveal avascular zone(FAZ)and the central retinal thicknes(CRT); the retinal mean sensitivity(RMS)at 10°was measured by MP-3 microperimetry. VD and RMS in BRVO group were further divided into lesion area(superior), non-lesion area(inferior)VD and RMS. The lesion area and non-lesion area of the control group were divided according to corresponding regions of the BRVO group. The changes of above indexes in CRVO group and BRVO group were compared with control group respectively, and the correlation between RMS and VD, CRT and FAZ areas in CRVO group and BRVO group was analyzed.<p>RESULTS:The overall VD(SCP and DCP)in CRVO group were lower than those in control group(<i>t</i>= -2.536, <i>P</i>=0.016; <i>t</i>= -8.834, <i>P</i><0.001); the area of FAZ was larger than that in control group(<i>t</i>=3.354, <i>P</i>=0.002); the CRT was thicker than that in control group(<i>t</i>=13.888, <i>P</i><0.001); the overall RMS was significantly lower than that in control group(<i>t</i>= -6.250, <i>P</i><0.001). The overall VD(SCP and DCP)in BRVO group were decreased compared to those in control group(<i>t</i>= -5.186, <i>P</i><0.001; <i>t</i>= -5.238, <i>P</i><0.001); the VD of SCP and DCP in the affected sector were decreased compared to those in the corresponding sector of the control group(<i>t</i>= -5.611, <i>P</i><0.001; <i>t</i>= -6.940, <i>P</i><0.001); the VD in the unaffected sector was significantly less than that in the corresponding sector of the control group only in DCP, but not in SCP(<i>t</i>= -3.047, <i>P</i>=0.004; <i>t</i>= -1.459, <i>P</i>=0.156); the area of FAZ was larger than that in control group(<i>t</i>=2.722, <i>P</i>=0.011); the CRT was thicker than that in control group(<i>t</i>=7.764, <i>P</i><0.001); the overall RMS was significantly lower than that in control group(<i>t</i>= -10.931, <i>P</i><0.001); the RMS in both the affected sector and the unaffected sector were lower than those in the corresponding sector of the control group(<i>t</i>= -13.183, <i>P</i><0.001; <i>t</i>= -8.074, <i>P</i><0.001). In CRVO group,the overall VD of SCP and DCP was positively correlated with the overall RMS(<i>r</i>=0.571, <i>P</i>=0.026; <i>r</i>=0.813, <i>P</i><0.001)and the area of FAZ and CRT was negatively correlated with the overall RMS(<i>r</i>= -0.621, <i>P</i>=0.014; <i>r</i>= -0.533, <i>P</i>=0.041). In BRVO group,the overall VD of SCP and DCP was positively correlated with the overall RMS(<i>r</i>=0.465, <i>P</i>=0.034; <i>r</i>=0.611, <i>P</i>=0.003), and the CRT was negatively correlated with the overall RMS(<i>r</i>= -0.547, <i>P</i>=0.01), while there was no correlation between the area of FAZ and the overall RMS(<i>r</i>= -0.421, <i>P</i>=0.057).<p>CONCLUSION: The combined application of OCTA and microperimetry can corresponding quantitatively evaluate the structure and function of macular area in patients with macular edema secondary to retinal vein occlusion, providing more detailed information for clinical decision makers to explain the disease well.

Clarification on Kidney-deficiency Constipation Treated by Classic Prescription Jichuanjian / 中国实验方剂学杂志

Jichuanjian， from the Jing Yue’s Collected Works by Zhang Jingyue， a famous doctor of Ming Dynasty， is composed of Angelica， Achyranthes bidentata， Cistanche deserticola， Alismatis Rhizoma， Shengma and Fructus Aurantii. It is one of the first 100 classic prescriptions published by the National Administration of Traditional Chinese Medicine. The original book states that where the disease is related to deficiency， with impacted stool， medicines such as Xiaohuang prescription cannot be used. If the treatment is needed， Jichuanjian should be applied. Through the textual research of ancient and modern literature， it is found that the efficacy of Jichuanjian has changed from ancient to modern times. In the medical books of the Ming and Qing Dynasties and the modern ones， the treatment is mostly carried out based on the constipation due to deficiency recorded in the original book， while in contemporary times， the treatment of Jichuanjian focuses on kidney （yang）-deficiency constipation and yin-deficiency constipation. Especially since modern times， Jichuanjian is frequently used to treat kidney-deficiency constipation according to the description in the planning textbooks of traditional Chinese medicine colleges and universities， which causes doubts among the authors. To actively respond to the call of General Secretary Xi Jinping that we should strengthen the sorting and excavation of the essence of classical medical books， this paper analyzed and demonstrated the original text and the drug composition， traceability and application by future generations of Jichuanjian based on the Jing Yue’s Collected Works. It was concluded that Jichuanjian was prepared for the treatment of constipation due to weak constitution， fluid deficiency， and emergent purgation， aiming for constipation due to weak constitution and fluid consumption rather than kidney-deficiency constipation described in modern textbooks. As Jichuanjian was developed for similar syndromes， it was reasonable that it was understood by later generations of doctors from the perspective of liver and kidney as well as earth dampness and wood stagnation， which however remains to be further explored and verified in clinic. By combing and discussing the efficacy of Jichuanjian， this paper could provide theoretical basis for the clinical application and modern development of Jichuanjian.

The Influence of Diabetes, Hypertension, and Hyperlipidemia on the Onset of Age-Related Macular Degeneration in North China: The Kailuan Eye Study / 生物医学与环境科学（英文）

Objective@#To analyze the prevalence of dry and wet age-related macular degeneration (AMD) in patients with diabetes, hypertension and hyperlipidemia, and to analyze the risk factors for AMD.@*Methods@#A population-based cross-sectional epidemiologic study was conducted involving 14,440 individuals. We assessed the prevalence of dry and wet AMD in diabetic and non-diabetic subjects and analyzed the risk factors for AMD.@*Results@#The prevalence of wet AMD in diabetic and non-diabetic patients was 0.3% and 0.5%, respectively, and the prevalence of dry AMD was 17% and 16.4%, respectively. The prevalence of wet AMD in healthy, hypertensive, hyperlipidemic, and hypertensive/hyperlipidemic populations was 0.5%, 0.3%, 0.2%, and 0.7%, respectively. The prevalence of dry AMD in healthy, hypertensive, hyperlipidemic, and hypertensive/hyperlipidemic populations was 16.6%, 16.2%, 15.2%, and 17.2%, respectively. Age, sex, body mass index, and use of hypoglycemic drugs or lowering blood pressure drugs were corrected in the risk factor analysis of AMD. Diabetes, diabetes/hypertension, diabetes/hyperlipidemia, and diabetes/hypertension/hyperlipidemia were analyzed. None of the factors analyzed in the current study increased the risk for the onset of AMD.@*Conclusion@#There was no significant difference in the prevalence of wet and dry AMD among diabetic and non-diabetic subjects. Similarly, there was no significant difference in the prevalence of wet and dry AMD among subjects with hypertension and hyperlipidemia. Diabetes co-existing with hypertension and hyperlipidemia were not shown to be risk factors for the onset of dry AMD.

Clinical outcome of tibiotalocalcaneal fusion using cannulated screw and humeral proximal locking plate inverted fixation through a lateral transfibular approach / 中国骨伤

OBJECTIVE@#To evaluate the clinical outcome of tibiotalocalcaneal fusion using cannulated screw and humeral proximal locking plate inverted fixation through a lateral transfibular approach.@*METHODS@#From June 2015 to December 2018, 15 patients underwent a tibiotalocalcaneal fusion operation using cannulated screw and inverted proximal humerus locking plate through a transfibular approach. There were 10 males and 5 females with the age ranging from 45 to 72 (58.9±6.1) years, and the course of disease ranged from 2 to 35 (11.9±7.9)years. Preoperative diagnosis included 8 cases of post traumatic arthritis, 2 cases of Charcot arthritis, 2 cases of Charcot-Marie -Tooth (CMT), 1 case of ankle tuberculosis, 1 case of talar necrosis, and 1 case of pigmented villonnodular synovitis. Among them, 8 patients were combined with simple varus deformity, 4 patients with simple valgus deformity, 2 patients with equinovarus deformity, 1 patient with equinovarus deformity, 2 patients with adduction and internal rotation of middle and forefoot. American Orthopaedic Foot and Ankle Society (AOFAS) ankle and hindfoot score and the visual analogue scale (VAS) score were used to evaluate the clinical outcome at the last follow up.@*RESULTS@#One lost follow up and remaining fourteen patients were followed up. The follow up time ranged from 10 to 25(16.6±4.3) months. All the 15 patients had primary healing. Fusion time ranged from 15 to 24 (16.8 ± 2.4) weeks after operation. One patient with diabetes experienced delayed union and was successfully treated with secondary bone grafting combined with Platelet-Rich Plasma (PRP) injection. The AOFAS score increased from 38.7±3.3 to 84.5±2.6 (@*CONCLUSION@#Tibiotalocalcaneal fusion used cannulated screw and humeral proximal locking plate inverted fixation through a lateral transfibular approach has the advantages of relatively simple technique, high fusion rate, especially for patients with posterior foot deformity, which has satisfactory short term effects.

A systematic review on the association between meteorological factors with traffic accident injury / 中华疾病控制杂志

In recent years, the impact of meteorological factors on health and injury has been paid more and more attention. Severe weather events were considered to be an important risk factor for traffic accident injuries. Evidence from a large number of epidemiological studies suggests that meteorological factors, including high temperatures, rainfall, snowfall, wind and visibility, might be related to the occurrence of traffic accidents. This systematic review attempts to summarize the current research status of meteorological factors on traffic accident injury, systematically review the relationship between meteorological factors and traffic accident injury, and discuss how to further carry out related research.

Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation / 中华医学遗传学杂志

OBJECTIVE@#To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy.@*METHODS@#Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration.@*RESULTS@#Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q.@*CONCLUSION@#The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.

Prenatal diagnosis of fetal 1p32p31 microdeletion syndrome: a case report / 中华围产医学杂志

We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.

Introduction of pertussis surveillance system and evaluation of its operational effect in Tianjin / 中国当代儿科杂志

The pertussis surveillance system has been established since 2009 in Tianjin, and continuously improved over the past 10 years. This system determines the definition and classification of pertussis, establishes simple and feasible sampling methods and laboratory detection methods in clinical practice, standardizes the report management of pertussis cases and the treatment of epidemic situations. After the implementation of the surveillance system, the number of reported pertussis cases increased from 26 in 2009 to 802 in 2017, the number of diagnosed cases increased from 19 in 2009 to 662 in 2017, the reported incidence rate of pertussis increased from 0.16/100 000 in 2009 to 4.28/100 000 in 2017, and the number of medical institutions of reporting perutssis cases increased from 2 in 2009 to 53 in 2017. The specimen collection rate of the reported cases reached up to 93.66%. These results show that the sensitivity of pertussis surveillance has been improved and show that the data from the surveillance system may reflect more precisely the epidemical characteristics of perutssis in Tianjin.

Chevron osteotomy versus Scarf osteotomy for the efficacy of radiographic and clinical in moderate and severe hallux valgus:a systematic review / 中国骨伤

OBJECTIVE@#To evaluate efficacy of radiographic and clinical of Chevron osteotomy versus Scarf osteotomy for hallux valgus at moderate and severe degree.@*METHODS@#Randomized controlled trial (RCT) about Chevron and Scarf osteotomy for hallux valgus, in PubMed, Embase, Cochrane Library, CBM, CNKI, Wanfang Data were searched by computer from establishing database to June 2018. According to inclusion and exclusion criteria, two researchers independently screened the literatures, evaluated risk of bias and extracted related observation index, RevMan 5.3.5 software was used to perform Meta-analysis. Postoperative hallux valgus angle (HVA), intermetatarsal angle (IMA), distal metatarsal articular angle (DMAA), AOFAS score, complications and patients' satisfaction degree between Chevron and Scarf osteotomy.@*RESULTS@#Six RCT literatures were included, involving 507 patients, 92.5% patients were at moderate and severe degree, and 261 patients were performed by Chevron osteotomy and 246 patients were performed by Scarf osteotomy. Meta analysis results showed that Chevron osteotomy was better than Scarf osteotomy in correcting HVA [MD=-1.95, 95%CI(-2.64, -1.27), <0.000 01]. While there were no statistical differences in IMA [MD=-0.42, 95%CI(-1.04, 0.21), =0.19], DMAA[MD=0.78, 95%CI(-0.72, 2.29), =0.31], AOFAS score [MD=2.47, 95%CI(-2.38, 7.33), =0.32], complications [RR=1.09, 95%CI(0.54, 2.20), =0.82], and patients' satisfaction degree [RR=1.00, 95%CI(0.96, 1.05), =0.92].@*CONCLUSIONS@#Chevron osteotomy, which has advantages in simple operation, shorten metatarsal bone, less trauma, was better in correcting HVA of hallux valgus at moderate and severe degree, and had similar effects in IMA, DMAA, AOFAS score, complications and patients' satisfactory degree.

Dexmedetomidine suppresses mechanical allodynia by inhibiting hyperpolarization-activated inward current / 生理学报

The purpose of the present study was to investigate the effects of dexmedetomidine (DEX) on neuropathic pain in the chronic compression of dorsal root ganglion (CCD) rat model and the underlying mechanism. Pain behavioral tests were applied to observe the effects of DEX on mechanical allodynia in Sprague Dawley (SD) rats. Whole cell patch clamp was used to observe the influence of DEX on excitability and hyperpolarization-activated inward current (I) of C- and A-type dorsal root ganglion (DRG) neurons. The results showed that mechanical allodynia of CCD rats was significantly inhibited by DEX (P < 0.05). In C- and A-type DRG neurons from the CCD rats, DEX significantly increased rheobase and after hyperpolarizing potential, as well as decreased I current density. These results suggest that DEX could attenuate the neuropathic pain in the CCD rats, and the mechanism might be related to the depressed I current density and excitability of C- and A-type DRG neurons.

Prenatal diagnosis of three cases of fetal skeletal dysplasia resulting from loss of heterozigosity of short stature homeobox gene / 中华围产医学杂志

Objective To analyze the genotype-phenotype correlation in fetal skeletal dysplasia,and to investigate the methods of prenatal diagnosis and genetic counseling.Methods From May 2016 to November 2017,three gravidas whose fetuses were diagnosed with short stature homeobox (SHOX) gene deficiency were recruited from those receiving invasive prenatal diagnosis and single nucleotide polymorphismarray (SNP-array) due to fetal structural abnormalities detected by prenatal ultrasound scan in Shanghai First Maternity and Infant Hospital,Tongji University School of Medicine.Fetus 1 and 3 were singleton pregnancies and fetus 2 was twin pregnancy.Amniotic fluid cells were isolated and analyzed by karyotyping and SNP-array.Peripheral blood samples were collected from their parents and also analyzed by SNP-array.Results All three fetuses were diagnosed with fetal skeletal dysplasia based on second trimester ultrasound findings showing the lengths of femora,humeri,tibiae,fibulae,ulnae and radii length below the 5th percentile of corresponding gestational age.Karyotypes of the three fetuses were normal.SNP-array examination showed that each case had 1 to 2.5 Mb deletion in the pseudoautosomal region of the short arms of sex chromosomes,including SHOX gene.Their skeletal dysplasia were all caused by SHOX haploinsufficiency.Microdeletions of fetus 1 and 3 were inherited from their mothers,while that of fetus 2 was inherited from the father.After genetic counseling,two singleton gravidas decided to terminate their pregnancies and the twin pregnant one underwent selective reduction.Conclusion Prenatal ultrasound,in combination with SNP-array,offers fast and efficient detection of fetal skeletal dysplasia due to SHOX gene deficiency.

Research progress on total ankle replacement / 中国骨伤

Total ankle replacement (TAR) is considered as a treatment option for end stage ankle arthritis. This treatment was abandoned due to the early failure prosthesis in the past. However, with recently advancements in ankle prosthesis design and improved surgical techniques, TAR has made great progress and the indications are expanding. Many studies have shown acceptable mid term and long term results of TAR, and it is worth looking forward to the prospect. Advantages of TAR over arthrodesis include improvement in joint range of motion, better gait activity, and decreased incidence of adjacent joint arthritis. With the further development, TAR will be considered as gold standard for the treatment of end stage ankle arthritis instead of the ankle arthrodesis. However, there are still many problems of TAR need to be solved in this present stage of development, including higher economic costs, lower survival rate, and higher revision rate. Patients and surgeons should have confidence in TAR, also need to choose this treatment with careful consideration.

A study on the plasma lipids level and its influencing factors among adults in Tongxiang City / 预防医学

Objective To know the plasma lipids level and influencing factors among adults in Tongxiang city,and to provide evidence for prevention and intervention of dyslipidemia.Methods Multistage stratified cluster sampling method was conducted to select participants in Tongxiang city.Questionnaire interview,physical examination and blood lipid detection were performed among the selected subjects.Models of the univariate and multivariate unconditional logistic regressions were used to analyze the influencing factors of dyslipidemia.Results A total of 600 people were involved in this study.The prevalence and standardized rates of dyslipidemia were 36.33% and 36.11 %,and abnormal rates of HDL -C,TG,TC and LDL -C were 27.33%,15.67%,4.83% and 4.83%,which standardized were 29.17%,15.1 3%,3.1 8% and 3.12%, respectively.The abnormal rate of LDL -C in females was higher than that in males (P <0.05).Borderline abnormal rate of TC and dyslipidemia rates were increased with age (P <0.05),and the abnormal rate of HDL -C were decreased with age (P <0.05).Multivariate logistic regression analysis showed that BMI (OR =3.398),diabetes mellitus(OR =1.694), hypertension (OR =1.717)and total static time(OR =1.712)were the risk factors for dyslipidemia.Conclusion The prevalence of dyslipidemia was high among the adults in Tongxiang city,especially the abnormity of HDL -C and TG. Community comprehensive prevention and control of dyslipidemia should be carried out according to its risk factors.

An analysis on the influencing factors for the severity of motor vehicle road traffic injures / 预防医学

Objective To know the influencing factors for the severity of motor vehicle road traffic injures ,and to provide scientific basis for making appropriate intervention measures.Methods 7 977 patients with motor vehicle road traffic injuries who were first diagnosed in injury surveillance sentinel hospital of Tongxiang City in 2012 and 2013 were selected, and the factors influencing the severity of injury were analyzed.Results The multivariate logistic regression analysis showed an increased risk of the injure severity among the people aged over 65 years old,alcohol drinking before the injury and migrant workers,the values of OR(95%CI)were 3. 231(2. 091 -4. 993),2. 796(1. 697-4. 607)and 1. 424(1. 217-1. 666)respectively.However,women,motor vehicle drivers,collision with non motor vehicle driver and using safety belt may contribute to the less serious damage,and the values of OR (95%CI)were 0. 837 (0. 753 -0. 930 ),0. 769 (0. 622-0. 952),0. 753 (0. 598-0. 948)and 0. 691 (0. 492-0. 970)respectively.Conclusion The risk factors for the severity of motor vehicle road traffic injures are elderly people,migrant workers and alcohol drinking.The safety education should be provided among the people and the targeted interventions should be developed and implemented.

A case -control study on risk factors of malignant tumors in Tongxiang city / 预防医学

Objective To exam the influence of psychological factors,occupational factors and dietary habits on malignant tumors.Methods A total of 2 471 patients with malignant tumor were selected from 2010 to 2012 and 1 to 1 matching method was used controlling sex and age distribution in the case and control groups.Data collected by interviewing was analyzed by univariate and multivariate conditional logistic regression.Results 12 related factors including 6 psychological factors were found in relation to malignant tumor after univariate logistic regression analysis.The multivariate logistic regression analysis showed that harmful occupational history (OR =1.731,95%CI:1.337 ~2.242),often having fried food (OR =1.889,95%CI:1.398 ~2.551),heavy salty diet(OR =1.457,95%CI:1.169 ~1.818),psychological problems (OR =1.274,95%CI:1.003 ~1.617),poor marital life (OR =2.007,95%CI:1.111 ~3.623)and lack of self -regulation (OR =1.460,95%CI:1.189 ~1.793 )were the risk factors.Conclusion Malignant tumor was related to a variety of exposure factors and psychological factor has become an important risk factor for malignant tumor in Tongxiang city.

Unbalanced subtelomic rearrangement involving 9q and 22q in a child with mental retardation and multiple congenital anomalies / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine genetic cause for a patient with development delay and multiple congenital anomalies.</p><p><b>METHODS</b>Routine karyotype analysis was performed for the patient and his parents. Array comparative genomic hybridization (array CGH) was performed for the patient to detect cryptic chromosome aberration.</p><p><b>RESULTS</b>Karyotype analysis revealed no obvious anomaly for the patient and his parents. Array CGH has detected a 2.8 Mb heterozygous deletion at 9q34.3 and an 8.1 Mb heterozygous duplication at 22q. Fluorescence in situ hybridization analysis of the patient revealed an unbalanced subtelomeric translocation 46, XY, der(9) t(9; 22) (q34.3; q13.2q13.33) mat, which has resulted in partial trisomy 22q and partial monosomy 9q. Clinical features of the patient included developmental delay, facial dysmorphism and multiple congenital anomalies. Upon subsequent pregnancy, FISH analysis revealed that the fetus has inherited the normal chromosomes 9 and 22 from his mother. Postnatal follow-up confirmed normal development milestone and physiques in the child.</p><p><b>CONCLUSION</b>An unbalanced translocation involving 9q and 22q has been found in a child featuring multiple congenital anomalies, which is due to a balanced translocation 9; 22 in his mother. Array CGH and FISH have also helped with discovery of subtelomeric rearrangement. Prenatal diagnosis of this aberration in subsequent pregnancies with FISH can prevent the recurrence of this disease.</p>

Evaluation of safety of video-assisted thoracoscopic esophagectomy for esophageal carcinoma / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To explore the safety of video-assisted thoracoscopic esophagectomy for esophageal carcinoma.</p><p><b>METHODS</b>From January 2005 to March 2012, 260 patients with esophageal carcinoma received thoracoscopic esophagectomy (TE group), while 322 patients underwent conventional open esophagectomy (OE group). Operative procedures, perioperative complications, reoperation, readmission to intensive care unit (ICU), and perioperative mortality were compared between the two groups.</p><p><b>RESULTS</b>Compared with OE group, TE group possessed less thoracic operative time [(105±30) min vs. (112±41) min, P=0.000], less blood loss [(95±48) ml vs. (107±44) ml, P=0.002], shorter postoperative hospital stay [(14.3±7.5) d vs. (16.9±9.5) d, P=0.000] and more lymph node harvest from thorax [(13.5±5.0) vs. (11.6±4.7), P=0.000]. The total perioperative complication rate was lower in TE group than that of OE group (34.6% vs. 45.0%, P=0.011), as well as perioperative mortality (0.8% vs. 3.4%, P=0.032). Lower rate of readmission to ICU (5.4% vs. 10.6%, P=0.024) was found in the TE group as compared to the OE group, while the reoperation rate was comparable (1.5% vs. 2.5%, P=0.425).</p><p><b>CONCLUSION</b>Thoracoscopic esophagectomy is advantageous than open procedure in terms of surgical safety.</p>

Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.</p><p><b>METHODS</b>Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.</p><p><b>RESULTS</b>PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.</p><p><b>CONCLUSION</b>Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.</p>

Clinical and genetic study of a case with Smith-Magenis syndrome / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore the clinical feature and genetic diagnosis for Smith-Magenis syndrome (SMS).</p><p><b>METHOD</b>The clinical data, including craniofacial anomalies, physical and mental status were analyzed. Routine and high resolution G-banding was performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) was used to detect small chromosome anomaly.</p><p><b>RESULT</b>A-two-year old girl was sent to our clinic for mental retardation and cardiac malformation. Some sleep problems were reported by parents, including difficulties falling asleep, shortened sleep cycles. She also had some neurobehavioral symptoms including hyperactivity and self-injurious behaviors head-banging. She had distinctive craniofacial features including low hairline, frontal bossing, a broad face, broad nasal bridge, a tented upper lip, prognathism, low-set ears and high-vaulted arch. She had moderate mental retardation. Cardiac findings included ventricular septal defect, atrial septal defect, overriding aorta and pulmonary hypertension. Primary ventriculomegaly was seen in magnetic resonance imaging (MRI). Routine karyotype analysis showed a karyotype of 46, XX. However, high resolution karyotype analysis showed a suspected partial deletion of the short arm of chromosome 17. Array comparative genomic hybridization (array CGH) finely mapped the deletion to a 3.8 Mb region on 17p11.2. The molecular karyotype was then ascertained as 46, XX.arr17p11.2(16543655-20374751)×1dn. The parents had normal karyotypes.</p><p><b>CONCLUSION</b>Smith-Magenis syndrome is a multisystem disorder characterized by developmental delay and mental retardation, distinctive craniofacial features, sleep disturbance and behavioral problems. Array comparative genomic hybridization (array CGH) finely mapped the deletion on 17p11.2.</p>