OBJECTIVE: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation. METHODS: From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.2BP1-BP2 microdeletion syndrome at the Prenatal Diagnosis Center of General Hospital of Ningxia Medical University were selected as the study subjects. Results of genetic testing and ultrasound examination, outcome of pregnancy, and postnatal follow-up were retrospectively analyzed. This study has been approved by the Ethics Committee of General Hospital of Ningxia Medical University ([2020]0520B). RESULTS: None of the 20 fetuses was found to have chromosomal abnormality, whilst all were found to harbor a 15q11.2 BP1-BP2 microdeletion by low-depth whole genome sequencing (CNV-seq). The range of deletions was determined as 0.26 ~ 0.87 Mb, and all were rated as pathogenic CNVs. Three fetuses had abnormal ultrasound findings, including 1 with widened renal pelvis, 1 with agenesis of corpus callosum, and 1 with nuchal fold thickening. Parental verification in 10 couples verified that two fetal deletions were de novo, whilst the remaining eight were inherited from a phenotypically normal parent. Following genetic counseling, three couples had opted to terminate the pregnancy, whilst the remaining 17 had continued with the pregnancy until delivery. The 17 liveborns were followed up for 2 months to 5 years, with no obvious abnormality in growth and development noted. CONCLUSION CNV-seq plays an important role in the prenatal diagnosis of 15q11.2 BP1-BP2 microdeletions. Such deletions may not always lead to disease phenotypes. Individualized consultation and long-term follow-up, in combination with intrauterine ultrasound and parental verification are necessary.
Humans ; Female ; Pregnancy ; Chromosomes, Human, Pair 15/genetics* ; Genetic Counseling ; Prenatal Diagnosis ; Chromosome Deletion ; Adult ; Fetus/abnormalities* ; Retrospective Studies ; Pregnancy Outcome ; Ultrasonography, Prenatal ; Genetic Testing ; DiGeorge Syndrome/diagnosis* ; Male

Objective To investigate the mocelualr mechanism of Cordycepin negative modulates LPSinduced cytokine production in murine macrophages.Methods The RAW264.7 murine macrophages were cultured in vitro and were pre-treated by different concentration of Cordycepin,and then stimulated by LPS for 8 h.Production of TNF-o,IL-6 and IL-12,and the content of p65 in the nuclear were detected by ELISA.Expression of heme oxygenase-1 (HO-1) and phosphorylation of IκB and p38 were measured by Western blot.Nuclear translocation of Nrf2 was detected by Immunofluorescence.Results 1 ～ 30 μg/mL of Cordycepin treatment significantly abrogated LPS-induced TNF-α,IL-6 and IL-12 production,p65 nuclear translocation and IκB phosphorylation.In addition,different concentration of Cordycepin could also induce RAW264.7 cells expression of HO-1,phosphorylation of p38 and nuclear translocation of Nrf2.Application of p38 inhibitor and small interfering RNA-mediated knock-down of Nrf-2 significantly inhibited surfactin-induced HO-1 expression.Treatment with a selective inhibitor of HO-1 reversed the Cordycepin mediated inhibition of pro-inflammatory cytokines.Conclusions Cordycepin induces antiinflammatory effects by inhibition of NF-κB and activation of Nrf-2 and p38 mediated HO-1 induction.

Objective To explore the clinical values of applying contact-mode argon plasma coagulation (APC) for retroflex colonoscopic treatment of ultra-lower rectal polyps. Methods 46 wide outsole and applanate polyps smaller than 1.0 cm located at ultra-lower rectum in 17 cases of patients were treated by contact-mode APC under U-type retroflex colonoscopy after failure in regular colonoscopic treatment. Then observe the contacting rate of APC probe with polyps, success rate of curing polyps, rate of probe being adhered and blocked by the solidification structures, incidence of submucosal emphysemas, and incidence of colonoscope ambustion. Results Under U-type retroflex colonoscopy, the probe could contact with polyps in 17 patients. The polyps in every patient were cured by APC in the first time of colonoscopic treatment, whereas all 46 polyps were cured by 97 times of APC spurt. Mild adhesions occurred between the probe and solidification structures at 5 times (5.15 %) among 97 times of APC spurt, without injuries to the coagulation surface from which when the probe separated. The solidification structures blocked the probe only twice (2.06 %). When the solidification structures were cleared, efficiency of the probe restored. No sub-mucosal emphysemas and colonoscope ambustion happened. Conclusion Applying contact-mode APC for retroflex colonoscopic treatment of ultra-lower rectal polyps is safe and effective, it can prevent the damage of colonoscope from the argon knife.

OBJECTIVETo verify the value of retrograde flow of Internal Mammary Artery (IMA) used as one of the supplying arteries and to develop a new method of applying IMA in breast reconstruction.

METHODSDuring breast reconstruction with free bilateral transverse rectus abdominis myocutaneous (TRAM) flap, the pressures and velocities of the two ends (proximal and distal) of internal mammary artery as well as the according perfusion unit (PU) of TRAM were measured in two patients who suffered from mammectomy because of carcinoma.

RESULTSThe pressure at distal end was 66 or/and 58 mmHg, the pressure at proximal end was 88 or/and 75 mmHg, the former is 75%-77% of the later. The immediate rate of blood flow of distal anastomotic stoma was 74 or/and 52 ml/min, that of proximal was 94 or/and 70 ml/min, the former is 74%-78% of the later after anastomosed to the two sides of deep inferior epigastric arteries (DIEA) separately. Under condition that both ends (proximal and distal) of IMA contributing as the supplying blood vessels simultaneously, the PU of TRAM was the best. The rates of blood flow at the two anastomotic stomas are similar to each other in late stage (evaluated at the fifth year follow-up).

CONCLUSIONThe distal end of internal mammary artery can supply blood flow in a considerable level, similar with the proximal end.

Adult ; Female ; Follow-Up Studies ; Hemodynamics ; Humans ; Mammaplasty ; Mammary Arteries ; physiology ; Middle Aged