Objective To investigate the value of prenatal ultrasound in diagnosing fetal persistent right umbilical vein (PRUV) and structural malformations.Methods From April 2007 to August 2011,38 827 pregnant women in Obstetrics and Gynecology Hospital of Fudan University accepted ultrasound examination,among which 109 fetuses were found PRUV.The relation between PRUV and other structural abnormalities was retrospectively analyzed.Results The incidence of PRUV was 0.28％ (109/38 827) including 100 singletons and 9 twins.Among the 109 cases of PRUV confirmed by the prenatal ultrasound diagnosis,95 cases did not complicate with fetal structural abnormality (90 singletons,5 twins),and had normal deliveries with healthy infants.Four infants were tested for their chromosomes and got normal results.The rest 14 fetuses with PRUV suffered from fetal structural abnormality (12.8％,14/109),among which,10 fetus (71.4％,10/14) suffered from cardiovascular abnormality such as endocrinal cushion defeats,double outlet right ventricle,single atrium and single ventricle.Nine pregnant women accepted artificial terminations.Only one of the 14 fetuses had chromosome test and got normal result.Conclusions Once PRUV was diagnosed by prenatal ultrasound,it is suggested to check the fetus carefully,especially the cardiovascular system.

Narcolepsy is a rare sleep-wake rhythm disorder in clinic practice, mainly characterized by recu-rrent unstoppable sleep during the day and often accompanied by cataplexy, sleep paralysis and hypnagogic hallucinations.Clinicians′ insufficient knowledge about narcolepsy is one of the main causes of misdiagnosis and delayed diagnosis.Moreover, narcolepsy may get easily confused by epilepsy because of complex and diverse types of epileptic seizures.Therefore, it is necessary to distinguish the two forms each other.When they are comorbidity, the diagnosis and treatment will be much more difficult.In this article, the clinical characteristics of narcolepsy and the causes of delayed diagnosis were analyzed, differential diagnosis between narcolepsy and epilepsy was investigated, and practical expe-rience in diagnosis and treatment of comorbidities were summarized, so as to raise clinicians′ awareness of narcolepsy and its comorbidity with epilepsy and improve patients′ prognosis and their quality of life.

Objective To assess the risk factors of pulmonary infection in patients with cerebral hemorrhage,and then to provide references for policy-making.Methods Relative literature of crosssectional or case-control studies about risk factors of pulmonary infection in patients with cerebral hemorrhage was searched by computer in data bases such as CNKI,VIP,CBM,WanFang Data and PubMed from January of 1994 to October 2014.Resluts A total of 22 studies (2 case-control studies and 20 crosssectional studies) were brought into the study.The risk factors' OR and its 95％CI was 2.64(2.10-3.33) for over 60 years of age,2.05(1.56-2.69) for smoking history,3.07(2.24-4.19)for those who have diabetes,3.36 (2.40-4.70) for those who have chronic pulmonary diseases,1.54 (1.16-2.05) for those who have heart diseases,2.38 (1.83-3.08) for those who have a history of stroke,5.07 (3.15-8.16) for disorder of consciousness,2.78(2.36-3.27) for amount of bleeding over 30ml,2.85(2.22-3.66) for deviated from midline,2.58 (1.60-4.17) for breaking into ventricle,2.05(1.67-2.51) for high level of fasting blood sugar respectively,and so on.Conclusions Prophylactic measures can be carried out according to the risk factors of pulmonary infection in patients with cerebral hemorrhage,and then to reduce the incidence rate of pulmonary infection.

Adeno-associated virus is a kind of DNA defective parvovirus which is non-pathogenic. Recombinant-adeno-associated virus vector comes from wild-type non-pathogenic adeno-associated virus and is highly secure, and it also has the advantages of broad host range. Recombinant-adeno-associated virus vector has become a hot spot for gene therapy and is widely used in gene therapy for cardiovascular diseases, especially for hypertension, heart failure, arteriosclerosis, and myocardial infarction.

Comparing the definition,classification,quantity,core capacity construction and the supervision mode of Chinese and the United States specialist nurses,there was a gap between them.The training for the specialist nurses in China was at the initial stage.The advanced experience should be learned from America to provide the reference for building the core capacity and supervision mode of the specialist nurses.

OBJECTIVETo explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in order to facilitate genetic counseling.

METHODSChromosome karyotypes of two fetuses and their immediate family members were analyzed by conventional G banding. High-throughput whole genome sequencing was used to determine the origin of sSMCs.

RESULTSFetus 1 was shown to have a karyotype of 47,XY,+mar but with normal FISH and B ultrasound findings. Its father also had a 47,XY,+mar karyotype with normal FISH results and clinical phenotype. High-throughput genome sequencing revealed that fetus 1 and its father were both 46,XY,dup(21)(q11.2;q21.1) with a 6.2 Mb duplication of the long arm of chromosome 21. The fetus was born with normal phenotype and developed well. Its grandmother also had a karyotype of 46,XX,t(15;21)(q13;p13) with normal FISH result and clinical phenotype. The karyotypes of its mother and grandfather were both normal. Analysis of fetus 2 showed a 47,XY,+mar karyotype with normal FISH results. High-throughput genome sequencing suggested a molecular karyotype of 46,XX. The fetus was born with normal phenotype and developed well. The karyotypes of its parents were both normal.

CONCLUSIONConsidering their variable origins, identification of sSMC should combine conventional G banding analyses with high-throughput whole genome sequencing for precise delineation of the chromosomes.

Adult ; Amniotic Fluid ; chemistry ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; Cytogenetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis ; Young Adult

OBJECTIVETo analyze the deletion region for two fetal cases with large Yq deletions in order to provide genetic counseling and prenatal diagnosis.

METHODSFor both cases, amniotic fluid samples were cultured and analyzed with G banding and fluorescence in situ hybridization (FISH). Multiplex polymerase chain reaction was also carried out to amplify 15 sequence tagged sites (STS) of azoospermia factor (AZF) on the Y chromosome.

RESULTSFor both samples, the karyotypes were determined as 46,X,del(Y)(pter→q11:). No heterochromatin was found in C band. The karyotypes of their fathers were 46,XY, and heterochromatin was found in C band. STS analyses suggested that only sY82, sY84 and sY86 in AZFa were amplifiable while the other 12 STS were negative in amniotic fluid for the first case, which indicated deletions of AZFb, AZFd and AZFc. No AZF deletion was found in its father. For the second case, all 15 STS were amplifiable in the amniotic fluid, suggesting no AZF deletion. No AZF deletion was found in its father too.

CONCLUSIONConventional karyotyping combined with FISH and molecular genetics techniques can enable characterization of AZF microdeletions and facilitate genetic counseling and prenatal diagnosis.

Adult ; Azoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Counseling ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis

Purpose: Elder self-neglect is a global public health issue and should be taken seriously at large. Nurses,usually working directly with elderly patients, have a better understanding of what factors may causeelder self-neglect. In this qualitative study, we explored the influencing factors of elder self-neglect fromthe perception of nurses in the context of Chinese culture. Methods: Face-to-face, in-depth interviews were conducted from November 2018 to December 2018.Purposive sampling was used. Twenty one participants recruited from eight geriatric wards of a generalhospital located in Wuhan were interviewed. A content analysis of qualitative nature was performed toanalyze the data. Results: Our conceptual model illustrated the findings based on the three themes of the conflict betweenpersonal recognition and social judgment, the choice between current needs and individual beliefs, aswell as the compromise between insufficient abilities and limited resources. Conclusion Nurses together with family members and social workers can help older adults improvetheir awareness of self-neglect to bridge the gap with social judgment, learn to focus on their own needs,as well as seek as much support as possible. Nurses should also respect the autonomy and selfdeterminationof elder self-neglecters because self-neglect is related to older adults' values. Furthermore,larger studies are needed to quantitatively test and refine the model.

Purpose: Elder self-neglect is a global public health issue and should be taken seriously at large. Nurses,usually working directly with elderly patients, have a better understanding of what factors may causeelder self-neglect. In this qualitative study, we explored the influencing factors of elder self-neglect fromthe perception of nurses in the context of Chinese culture. Methods: Face-to-face, in-depth interviews were conducted from November 2018 to December 2018.Purposive sampling was used. Twenty one participants recruited from eight geriatric wards of a generalhospital located in Wuhan were interviewed. A content analysis of qualitative nature was performed toanalyze the data. Results: Our conceptual model illustrated the findings based on the three themes of the conflict betweenpersonal recognition and social judgment, the choice between current needs and individual beliefs, aswell as the compromise between insufficient abilities and limited resources. Conclusion Nurses together with family members and social workers can help older adults improvetheir awareness of self-neglect to bridge the gap with social judgment, learn to focus on their own needs,as well as seek as much support as possible. Nurses should also respect the autonomy and selfdeterminationof elder self-neglecters because self-neglect is related to older adults' values. Furthermore,larger studies are needed to quantitatively test and refine the model.

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.