Objective To investigate the risk of fatal stroke mortality associated with short-term exposure to air pollution， and to determine the susceptible population. Methods In this study， daily stroke mortalities of adults between 2012 and 2014 in Songjiang District， Shanghai were collected. Time-stratified case-crossover approach was used to assess the association between daily concentrations of air pollutants and fatal stroke mortalities. Results This study included 514 patients who died from acute strokes. The average concentrations during the study period were 77.45 μg·m^-3 for PM_2.5， 21.22 μg·m^-3 for SO₂， and 57.59 μg·m^-3 for NO₂. The fatal stroke mortality of adults under the age of 65 was found to be significantly associated with NO₂. At the time of a Lag of 2 d and 03 d， a significantly higher risk of fatal stroke mortality in relation to NO₂ exposure was observed， and the OR values of ischemic stroke mortality for people were 3.86 （1.53-9.75） and 5.83 （1.40-24.34） respectively. People over the age of 65 were more sensitive to increased PM_2.5 concentrations， at the time of a Lag of 03 d， fatal strokes increased by 28% when PM_2.5 levels increased. A significantly higher risk of fatal stroke mortality in relation to increase of NO₂ concentration was observed among people who were overweight or obese. Conclusion A significantly higher risk of fatal stroke mortality is associated with the increase of PM_2.5 and NO₂. The results also suggest that the susceptible population should take additional precautions to avoid or reduce the risk of fatal strokes.

OBJECTIVE: To analyze the ultrasonographic phenotype and result of genetic testing in six fetuses carrying a 17q12 microdeletion. METHODS: Chromosomal microarray analysis (CMA) was carried out for 6200 pregnant women undergoing prenatal diagnosis from December 2016 to May 2021. RESULTS: CMA has identified 6 fetuses with a microdeletion in the 17q12 region, which spanned approximately 1.4 Mb and encompassed at least 13 OMIM genes. All fetuses have shown bilateral renal parenchymal echo enhancement. Four fetuses also had other ultrasonographic phenotypes. The parents of 4 fetuses had refused parental verification, whilst the remaining two fetuses were confirmed to be de novo in origin. CONCLUSION The prenatal ultrasonographic phenotype of 17q12 microdeletion is mainly enhanced bilateral renal parenchymal echos. CMA can facilitate detection of the 17q12 microdeletion.
Female ; Humans ; Pregnancy ; Genetic Testing ; Phenotype ; Fetus/diagnostic imaging* ; Prenatal Diagnosis ; Parents

OBJECTIVE: To analyze the intrauterine phenotype and genotype of eight fetuses carrying a 16p11.2 microdeletion. METHODS: 5100 fetuses undergoing routine prenatal diagnosis were subjected to single nucleotide polymorphism-based microarray (SNP-array) analysis. Fetuses harboring a 16p11.2 microdeletion were analyzed for their ultrasonographic characteristics. RESULTS: Eight fetuses were found to harbor a microdeletion in the 16p11.2 region. Among these, six had a typical 500-600 kb deletion, while the remaining two had an atypical 220 kb deletion at the distal part of 16p11.2. Four fetuses showed vertebral malformations, two had mild left ventriculomegaly, one had hydrocephalus, and one had pulmonary valve stenosis with regurgitation. The parents of five fetuses have accepted pedigree verification, and the results confirmed that the 16p11.2 microdeletions carried by fetuses all had a de novo origin. CONCLUSION The intrauterine phenotypes of fetuses carrying a 16p11.2 microdeletion may be variable, and the deletion can be effectively detected with the SNP-array assay.
Chromosome Deletion ; Female ; Fetus ; Genetic Testing ; Humans ; Phenotype ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To analyze the prenatal ultrasonic characteristics and genetic features of 14 fetuses with chromosome 22q11 microdeletion syndrome (22q11DS). METHODS: 4989 fetuses were analyzed by using single nucleotide polymorphism array (SNP array) in the Fujian Maternal and Child Health Hospital from November 2016 to November 2019. RESULTS: SNP array showed that 11 fetuses had classic 3 Mb microdeletion in 22q11 region, one fetus had 2.0 Mb microdeletion, and two fetuses had 1.0 Mb microdeletion. The 1.0 Mb microdeletion in 22q11 region contains SNAP29 and CRKL genes, which may increase the risk of congenital renal malformation and cardiovascular malformation. CONCLUSION Prenatal ultrasonic characteristics of fetuses with 22q11 microdeletion syndrome vary, and SNP array is a powerful tool to diagnose such diseases, which can provide accurate genetic diagnosis and enable prenatal diagnosis.
22q11 Deletion Syndrome/diagnostic imaging* ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics* ; Female ; Fetus ; Genetic Testing ; Humans ; Pregnancy ; Prenatal Diagnosis ; Ultrasonics

Objective:To analysis the incidence of abnormal genetics and the clinical outcome of fetuses with ultrasonic nonstructural abnormality.Methods:This study was conducted retrospectively. 631 pregnant women were enrolled in the Prenatal Diagnostic Center of Fujian Maternal and Child Health Hospital due to ultrasonic nonstructural abnormality from January 2016 to January 2019. According to different gestational weeks, amniotic fluid or umbilical cord blood samples were collected for chromosome karyotype analysis and SNP-array. According to the number of nostructural abnormalities, they were divided into 1 nostructural abnormality group, 2 nostructural abnormalities group, and ≥3 nostructural abnormalities group. Chi-square test was used for comparison between groups.Results:Of the 631 cases, 34 cases (5.4%, 34/631) had abnormal karyotypes, including 20 cases with abnormal chromosome number and 14 cases with abnormal chromosome structure. In results of SNP-array, there were 53 abnormal results (8.4%, 53/631), including 32 cases of pathogenic copy number variations (CNV) and 21 cases of variations of uncertain clinical significance (VOUS). The rates of pathogenic CNV were 4.57% (21/260), 4.76% (7/147) and 16.67% (4/24) in the group of 1, 2 and ≥3 nostructural abnormalities, respectively. The rate of the three groups showed a linear trend, and the difference was statistically significant (χ2=7.419, P<0.05). In the single nostructural abnormality group, the rate of pathogenic CNV of nasal bone dysplasia, fetal growth restriction (FGR) and thickened nuchal translucency (NT) were 8.11% (3/37), 7.04% (5/71) and 5.60% (7/125), respectively. Conclusions:Compared with the karyotype analysis, SNP-array can significantly improve the detection rate of genetic abnormalities in ultrasonic nonstructural abnormality. When multiple ultrasonic nonstructural abnormality were combined, the risk of genetic abnormalities showed an upward trend.

Objective:To analysis the incidence of abnormal genetics and the clinical outcome of fetuses with ultrasonic nonstructural abnormality.Methods:This study was conducted retrospectively. 631 pregnant women were enrolled in the Prenatal Diagnostic Center of Fujian Maternal and Child Health Hospital due to ultrasonic nonstructural abnormality from January 2016 to January 2019. According to different gestational weeks, amniotic fluid or umbilical cord blood samples were collected for chromosome karyotype analysis and SNP-array. According to the number of nostructural abnormalities, they were divided into 1 nostructural abnormality group, 2 nostructural abnormalities group, and ≥3 nostructural abnormalities group. Chi-square test was used for comparison between groups.Results:Of the 631 cases, 34 cases (5.4%, 34/631) had abnormal karyotypes, including 20 cases with abnormal chromosome number and 14 cases with abnormal chromosome structure. In results of SNP-array, there were 53 abnormal results (8.4%, 53/631), including 32 cases of pathogenic copy number variations (CNV) and 21 cases of variations of uncertain clinical significance (VOUS). The rates of pathogenic CNV were 4.57% (21/260), 4.76% (7/147) and 16.67% (4/24) in the group of 1, 2 and ≥3 nostructural abnormalities, respectively. The rate of the three groups showed a linear trend, and the difference was statistically significant (χ2=7.419, P<0.05). In the single nostructural abnormality group, the rate of pathogenic CNV of nasal bone dysplasia, fetal growth restriction (FGR) and thickened nuchal translucency (NT) were 8.11% (3/37), 7.04% (5/71) and 5.60% (7/125), respectively. Conclusions:Compared with the karyotype analysis, SNP-array can significantly improve the detection rate of genetic abnormalities in ultrasonic nonstructural abnormality. When multiple ultrasonic nonstructural abnormality were combined, the risk of genetic abnormalities showed an upward trend.

Objective:To observe the long-term effects of conventional disease modifying anti-rheumatic drugs (cDMARDs) in the treatment of ankylosing spondylitis (AS) and drug-related adverse reactions, and provide reference to clinical treatment and assessment.Methods:Retrospective analysis was performed for AS patients with more than 10 years follow-up records in the Department of Rheumatology and Immunology, Peking University Shenzhen Hospital. The AS patients enrolled were treated with cDMARDs, non-steroid anti-inflammatory Drugs (NSAIDs), and glucocorticoidsonl only. The treatment group was treated continuously for at least 3 years, and the control group was untreated or treated for less than 3 months. Clinical symptoms, inflammatory indicators, imaging results and drug-related adverse reactions of all patients were collected for statistical analysis. The counting data were tested by χ2 test, the measurement data in normal distribution was tested by t test, and the measurement data that not normally distributed was tested by mann-whitney U test. Paired test was used for statistical processing before and after treatment. Results:A total of 166 eligible patients were included, including 111 in the treatment group and 55 in the control group. There were no statistical significant differences between the treatment group and the control group at baseline including the mean follow-up time, symptomatic disease course, age, sex ratio, human lymphocyte antigen (HLA)-B27 positive rate, duration of morning stiffness, pain at night, peripheral arthritis, ESR, CRP and imaging data. After 10 years, the treat-ment group had shorter morning stiffness[(8±18) vs (22±34), U=2 228, P=0.008], less nocturnal pain [(2/1.9%) vs (19/36.5%), χ2=37.037, P<0.01], lower ESR level [(14±13) vs (20±19), t=2.249, P=0.026], lower CRP level [(6±6) vs (10±11), t=2.154, P=0.033], lower incidence of peripheral arthritis [(23/20.7%) vs(25/45.5%), χ2=10.946, P=0.001] and lower sacroiliac arthritis progression rate [(28/25.2% ) vs (46/83.6%), χ2=50.922, P<0.01], and lower spinal progression rate [(8/7.2%) vs (51/92.7%), χ2=117.407, P<0.01] compared with the control group. The differences between the two groups was statistically significant. The main medications and drug proportions in the treatment group were as follows: sulfasalazine (100%), methotrexate (86.5%), NSAIDs (98.2%), glucocorticoid (78.4%) and thalidomide (62.2%). The main drug-related adverse reactions that occurred during the treatment included dizziness, abnormal menstruation, and reversible liver dysfunction. Conclusion:The combination of cDMARDs can effectively control the clinical symptoms of most AS patients, reduce inflammation indicators, delay the progression of sacroiliac joint and spinal damage, and have no serious drug-related adverse reactions. Almost all of the untreated AS patients have radiographic progression of the sacroiliac joint and spine.

Objective:To investigate the characteristics and trends of women who underwent induced abortion in recent years, and to provide more evidences to decrease induced abortion rate.Methods:A retrospective study was conducted on women who underwent induced abortions in the Family Planning Department of Women and Children’s Hospital of Xiamen University from January 2014 to December 2018.Results:Of the 28 529 women with induced abortion, the age was (28.77±5.78) years old. Women aged 25-34 years accounted for 58.1%, 67.0% of women were married, 62.5% had a history of delivery, 24.0% were in their first pregnancies, 30.3% had induced abortion for twice, 21.5% were for three times and more (the maximum frequency of induced abortion was 14). About 16.1％ induced abortion women had a history of cesarean section，and rate showed an increasing trend in the five years (16.2%, 15.0%, 15.9%, 16.6%, 16.9%), but the difference was not statistically significant ( P=0.054). From 2014 to 2018, the age of induced abortion women [(28.05±5.69) years, (28.47±5.62) years, (28.70±5.80) years, (29.03±5.81) years, (29.59±5.82) years, P<0.001] and the percentages of married women （63.2%, 66.8%, 66.9%, 67.2%, 70.9%）, women with two or more children （11.8%, 15.4%, 20.2%, 25.2%, 32.2%） and women undergoing at least a second abortion over 35 years old （21.7%, 22.1%, 23.4%, 26.7%, 29.9%） increased every year (all P<0.001). However, among the induced abortion women, the percentages of unmarried women （36.8%, 33.2%, 33.1%, 32.8%, 29.1%）, women who haven’t bear children （42.9%, 38.4%, 37.8%, 36.3%, 32.4%）, women with the first pregnancy （26.2%, 23.8%, 24.7%, 23.4%, 21.8%） and women under 24 years old （29.3%, 25.3%, 24.7%, 24.1%, 21.5%） decreased during the five years period (all P<0.001). Conclusion:The incidence rate of induced abortion among married women with children is the highest, so special attention should be paid to postpartum women in family planning services, and it is urgent to launch postpartum contraceptive services and promote long-term reversible contraceptive measures.

Objective:To investigate the characteristics and trends of women who underwent induced abortion in recent years, and to provide more evidences to decrease induced abortion rate.Methods:A retrospective study was conducted on women who underwent induced abortions in the Family Planning Department of Women and Children’s Hospital of Xiamen University from January 2014 to December 2018.Results:Of the 28 529 women with induced abortion, the age was (28.77±5.78) years old. Women aged 25-34 years accounted for 58.1%, 67.0% of women were married, 62.5% had a history of delivery, 24.0% were in their first pregnancies, 30.3% had induced abortion for twice, 21.5% were for three times and more (the maximum frequency of induced abortion was 14). About 16.1％ induced abortion women had a history of cesarean section，and rate showed an increasing trend in the five years (16.2%, 15.0%, 15.9%, 16.6%, 16.9%), but the difference was not statistically significant ( P=0.054). From 2014 to 2018, the age of induced abortion women [(28.05±5.69) years, (28.47±5.62) years, (28.70±5.80) years, (29.03±5.81) years, (29.59±5.82) years, P<0.001] and the percentages of married women （63.2%, 66.8%, 66.9%, 67.2%, 70.9%）, women with two or more children （11.8%, 15.4%, 20.2%, 25.2%, 32.2%） and women undergoing at least a second abortion over 35 years old （21.7%, 22.1%, 23.4%, 26.7%, 29.9%） increased every year (all P<0.001). However, among the induced abortion women, the percentages of unmarried women （36.8%, 33.2%, 33.1%, 32.8%, 29.1%）, women who haven’t bear children （42.9%, 38.4%, 37.8%, 36.3%, 32.4%）, women with the first pregnancy （26.2%, 23.8%, 24.7%, 23.4%, 21.8%） and women under 24 years old （29.3%, 25.3%, 24.7%, 24.1%, 21.5%） decreased during the five years period (all P<0.001). Conclusion:The incidence rate of induced abortion among married women with children is the highest, so special attention should be paid to postpartum women in family planning services, and it is urgent to launch postpartum contraceptive services and promote long-term reversible contraceptive measures.

OBJECTIVE: To determine the origin of supernumerary small marker chromosomes (sSMCs) carried by two fetuses. METHODS: Single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis were carried out on cells cultured from the amniotic fluid samples. RESULTS: SNP-array analysis showed both fetuses to be arr[hg19]22q11.1q11.21(16 888 899-18 649 190)×4, with a duplicated 1.7 Mb region (16 888 899-18 649 190) leading to partial tetrasomy of 22q11.1-22q11.21. FISH confirmed that both fetuses were 47,XN,+mar.ish idic(22)(q11.2) (RP11-958H20 ++),which suggested a diagnosis of Cat-eye syndrome (CES). The appearance of abortuses were consistent with the diagnosis of CES. CONCLUSION Two fetuses with CES were diagnosed by genetic testing. The latter has provided a basis for genetic counseling.
Aneuploidy ; Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 22 ; Eye Abnormalities ; diagnosis ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis