Objective: To explore the genetic basis for a fetus with Dandy-Walker malformation. Methods: G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents. Results: SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation. Conclusion The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.

Objective Based on the process theory of stress effect,the structural equation model of the influencing factors of self-regulatory fatigue in maintenance hemodialysis patients is constructed,which provides theoretical bases and references for the formulation of intervention programs to relieve self-regulatory fatigue in patients.Method A total of 420 maintenance hemodialysis patients were surveyed using General Information Questionnaire,Self-Regulatory Fatigue Scale,Dialysis Symptom Index,Life Orientation Test-Revised,Perceived Social Support Scale,Brief Illness Perception Questionnaire and Medical Coping Styles Questionnaire.Results Total score of self-regulatory fatigue in maintenance hemodialysis patients was(49.52±10.93),and self-regulatory fatigue showed significant positive correlation with symptom distress,the illness perception,avoidance coping style,yieldly coping(r=0.476,0.428,0.303,0.611,all P＜0.01);self-regulatory fatigue showed significant negative correlation with perceived social support and dispositional optimism(r=-0.410,-0.652,all P＜0.01);it showed no significant correlation with facing coping(r=-0.032,P＞0.05).The Bootstrap analysis revealed that the mediation effect of yielding coping,dispositional optimism,perceived social support,and illness perception between symptom distress and self-regulatory fatigue was significant(95％CI:0.027～0.203).The overall effect of symptom distress on self-regulatory fatigue was(P＜0.001,95％CI:0.576～0.751);the direct effect was(P＜0.001,95％CI:0.170～0.357);the indirect effect was(P＜0.001,95％CI:0.332～0.485);the mediation effect accounted for 61.1％of the total effect value.Conclusion Maintenance hemodialysis patients have a high degree of self-regulatory fatigue,which needs to be further improved.Medical staff should timely identify and evaluate the symptom distress of patients,focus on guiding patients to adjust optimistic disease,provide patients with psychological guidance and stress coping strategies,reduce the negative coping behavior tendency,guide the patients correctly perceive support and care in social relations,help patients set up the correct disease cognition,thus reducing the patient's self-regulatory fatigue.

Objective: To compare the clinical efficacy of proximal gastrectomy with double tract reconstruction (PG-DT) and total gastrectomy with Roux-en-Y reconstruction (TG-RY) for proximal gastric cancer. Methods: The retrospective study was conducted. Clinicopathological data of 132 patients with proximal gastric cancer confirmed by pathology who underwent PG-DT (n=51) or TG-RY (n=81) by the same surgeon team in Southwest Hospital of Army Military Medical University between January 2006 and December 2016 were collected. Patients with preoperative neoadjuvant therapy, non-R0 resection and non-adenocarcinoma confirmed by pathology were excluded. Observation indicators included intraoperative (operation time and blood loss); postoperative (time to flatus, hospital stay, total complications, metastasis of lymph nodes around distal side of stomach from cases undergoing TG-RY), follow-up (long-term hemoglobin level, incidence of anemia, and survival) parameters. Survival analysis was conducted using the Kaplan-Meier method, and Log-rank test was used to compare survival difference between two groups. Results: No statistically significant differences were found between two groups in the baseline data, including age, gender, BMI, hemoglobin level before operation, postoperative TNM stage, tumor size and histological differentiation between two groups (all P>0.05). There were no significant differences between PG-DT and TG-RY in intraoperative blood loss [200 (200) ml vs. 200 (195) ml, Z=-1.860, P=0.063], time to flatus [(2.7±1.0) days vs. (2.6±1.1) days, t=0.225, P=0.823], postoperative hospital stay [10(3) days vs. 10 (4) days, Z=-0.449, P=0.654] and morbidity of perioperative complications [5.9% (3/51) vs. 8.6% (7/81), χ²=0.081, P=0.775]. Compared with the TG-RY group, PG-DT group had longer total operative time [294 (97) minutes vs. 255 (71) minutes, Z=–3.148, P=0.002]. The hemoglobin data of 42 patients with PG-DT and 56 patients with TG-RY were collected 1 year after operation. The incidence of anemia in PG-DT group was lower than that of TG-RY group [64.2%(27/42) vs. 82.1% (46/56), χ²=4.072, P=0.045], and PG-DT group had higher level of hemoglobin than TG-RY group [(114.4±16.3) g/L vs. (106.6±15.0) g/L, t=2.435, P=0.017]. There were 4 cases (4/81, 4.9%) with metastasis of lymph nodes around distal side of stomach in TG-RY group. All of these 4 tumors were T4 in depth and were more than 5 cm in diameter. The median follow-up period was 26 (1 to 110) months. One-year, 3-year and 5-year survival rates were 93.2%, 65.3% and 55.0% in PG-DT group, and 85.8%, 63.8% and 47.2% in TG-RY group, respectively without significant difference (χ²=0.890, P=0.345). Conclusions Compared with TG-RY, PG-DT has the same safety and feasibility for proximal gastric cancer. Although the operative time is a little longer than TG-RY, PG-DT has advantages in improving the postoperative hemoglobin level.

OBJECTIVE: To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques. METHODS: Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus. RESULTS: SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin. CONCLUSION Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
Chromosome Deletion ; Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 22 ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo assess the clinical application of single nucleotide polymorphism (SNP)-array in detecting abnormal chromosome karyotypes of chorionic villi from early spontaneous abortuses.

METHODSA total of 861 chorionic villus samples from unexplained early spontaneous abortion were collected from Women's Hospital, Zhejiang University School of Medicine during October 2013 and June 2016, and SNP-array was performed to detect genome-wide DNA copy number variants.

RESULTSAll samples were successfully tested by SNP-array and 440 cases (51.10%) were found to have abnormal chromosome constitutions. Aneuploidy was identified in 358 (41.58%) cases, distributing in all chromosomes except chromosome 1. Triploidy and haploidy were found in 21 (2.44%) and one case (0.12%), respectively. Thirty-seven cases (4.30%) were identified as single chromosomal segment deletion or duplication, 25 of which were less than 10 Mb in size. For 6 of 25 cases with unclear pathogenesis, family studies were carried out to identify origin of deletion or duplication, showing that 4 cases were de novo and 2 were inherited from one of the parents. Twenty-three cases (2.67%) showed two chromosomal deletion/duplication segments. Combining with karyotyping and fluorescencehybridization, 6 cases were identified as de novo aberration and 11 carried small-size segmental balanced abnormality.

CONCLUSIONSSNP-array can provide a relatively comprehensive genetic analysis of chorionic villi and can detect various kinds of chromosome abnormalities in spontaneous miscarriages.

OBJECTIVE: To conduct genetic analysis in a fetus with complex translocation of four chromosomes. METHODS: G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array) and fluorescence hybridization (FISH) were performed in a fetus with multiple malformations. Peripheral blood chromosome karyotype and FISH were also carried out for the parents. RESULTS: The fetal amniotic fluid karyotype was 46, XY, t(12; 13)(q22; q32). SNP array analysis showed that there were 20 192 kb duplication at 1q42.13q44 and 13 293 kb deletion at 15q26.1q26.3 in the fetus. The results of karyotype and SNP array were inconsistent. FISH analyses on the parental peripheral blood samples demonstrated that the mother was a cryptic 46, XX, t(1; 15)(q42.1; q26.1) translocation. The fetus had inherited 46, XY, t(12; 13)(q22; q32) from his father and der(15)t(1; 15)(q42.1; q26.1) from his mother. CONCLUSIONS The 1q42.13q44 duplication and 15q26.1q26.3 deletion may have contributed to the abnormal sonographic features of the fetus. The combination of cytogenetic, SNP array and FISH techniques was beneficial for providing an accurate genetic counseling.
Chromosome Aberrations ; Female ; Fetus ; abnormalities ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Polymorphism, Single Nucleotide ; Translocation, Genetic