Objective:To explore the clinical features and genetic etiology of a fetus with 15q11q13 complex duplication syndrome.Methods:A fetus diagnosed with 15q11q13 duplication syndrome at Ningbo Women and Children′s Hospital on April 19, 2023 was selected as the study subject. Clinical data was collected, and the fetus was subjected to invasive prenatal diagnosis including G-banded karyotyping and chromosomal microarray analysis(CMA). Following the discovery of chromosomal duplication, trio-whole exome sequencing was carried out to exclude single base variants and confirm the parental original of the duplication. Optical genome mapping was also performed to delineate the structural arrangement of the duplication. Relevant literature was searched in the PubMed, Wanfang Medical Network and CNKI databases using "15q11q13", "duplication", "hexasomy" and "Six fold repetition" as the key words from January 1, 2000 to August 1, 2023 for a review of previously reported 15q11q13 hexasomy cases. This study was approved by Medical Ethics Committee of the Ningbo Women & Children′s Hospital (Ethics No. EC2020-048).Results:The fetus was found to have a mosaicism karyotype of 48, X?, + mar, + idic(15)(q13)[33]/ 47, X?, + idic(15)(q13)[17]. CMA and trio-WES have all shown a six-fold duplication in the PWS/AS critical region (PWACR) at 15q11.2q13.2 and quadruple duplication of 15q13.2q13.3 region, which have derived from its mother and formed supernumerary marker chromosomes (SMCs). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the 15q11.2q13.2 sixfold duplication was classified as pathogenic, whilst the 15q13.2q13.3 quadruple duplication was classified as variant of uncertain significance. Literature search has identified 11 cases of 15q11q13 duplication involving hexasomy of the PWACR, with all cases showing mental retardation, language delay and hypotonia, and most of them also had motor retardation, epilepsy and mild facial dysmorphism.Conclusion:Hexasomy for the PWACR combined with tetrasomy of 15q13.2q13.3 probably underlay the left hand polydactyly, polyhydramnios and intrauterine growth retardation in this fetus.

Objective:To investigate the clinical effect of bridging fixation with locking plate for the Seinsheimer type V subtrochanteric femoral fracture. Methods:From March 2009 to September 2014,18 cases of Seinsheimer type V sub-trochanteric femoral fracture were treated by open reduction and bridging fixation with locking plate through proximal and distal approach including 16 males and 2 females with an average age of 41 years old ranging from 22 to 67 years old. Among them , 12 cases caused by traffic accident,5 cases by falling,1 case by heavy aboving. All cases were fresh and closed fractures. Time between injury and operation was from 4 to 9 days with an average of 6.2 days. Of them ,11 cases were fixed with reverse LISS and the other 7 cases were fixed with anatomical locking plates of proximal femur. Results:The mean time of operation was 110 min (ranged from 90 to 155 min). The mean blood loss during operation was 425 ml (ranged from 350 to 650 ml) and 16 cases got blood transfusion which was meanly 300 ml. The mean hospital time was 14 days (ranged from 12 to 18 days). The mean duration of followed up was 11.8 months (ranged from 8 to 22 months). The mean time of bone union was 6.6 months (ranged from 5 to 8 months). There was not any complication such as infection,implant failure,hip varus,external rotation deformity of low limb or fat embolism. The Sanders hip scores were 53.22±6.48,the result was excellent in 12 cases and good in 6 cases at the last follow up. Conclusion:Under the principle of biological osteosynthesis ,treatment of Seinsheimer type V sub-trochanteric femoral fracture with bridging locking plate fixation has such advantages as high mechanism ,less interference of blood supply,stable fixation and little complication. It is a safe and idea way for the treatment of the Seinsheimer type V sub-trochanteric femoral fracture.

Objective To study the distribution and drug resistance of pathogens in patients with lung cancer,and analyze the prevention strategies. Methods A total of 312 cases of lung cancer patients with infection treated in our hospital from January 2017 to January 2021 were selected as the research objects.The lower respiratory tract secretions,urine and feces were collected for pathogen culture and drug sensitivity test;the distribution and drug resistance of pathogens were analyzed,and the corresponding prevention strategies were formulated. Results Of the 312 patients, 165 (52.88%) had respiratory tract infection, 79 (25.32%) had oropharyngeal infection, and 68 (21.80%) had urinary tract infection.The highest proportion was respiratory infection.Among the 312 patients,398 pathogens were detected of which 212 Gram-positive bacterias (53.27%)were found of which Staphylococcus epidermidis(15.58%)and Staphylococcus aureus(13.07%)accounted for a relatively high proportion. Among 175 Gram-negative strains,Klebsiella pneumoniae(15.94%)and E.coli (10.05% ) accounted for a large proportion.The resistance rate of Gram-positive bacteria,such as Staphylococcus epidermidis and Staphylococcus aureus,to amikacin,gentamicin and penicillin,was more than 50%,which was sensitive to vancomycin. Gram negative bacteria such as Klebsiella pneumoniae and E.coli have high resistance to common antibiotics,and the drug resistance rate to cefepime and cefazolin is more than 50%,and sensitive to imipenem/cilastatin and imipenem/cilastatin.Among 11 fungi,4 cases were resistant to fluconazole , 36.36%,3 to itraconazole,27.27%,0 to ketoconazole and voriconazole,0.00%. Conclusion The distribution and drug resistance of pathogenic bacteria in patients with lung cancer infection in our hospital have certain characteristics,in which Gram-positive bacteria are mainly Staphylococcus epidermidis and Staphylococcus aureus,Gram-negative bacteria are mainly Klebsiella pneumoniae and Escherichia coli,and there are also a small number of fungal infections.Therefore,we should strengthen the monitoring of etiology and drug resistance,and strengthen the management of hospital disinfection Drug sensitivity results of patients,rational use of antibiotics,so as to improve the treatment effect and reduce the risk of infection.