OBJECTIVE To explore the characteristics and influential factors of pharmaceutical clinic service demands， providing evidence for optimizing pharmaceutical service models and facilitating pharmaceutical service models of pharmacist role transformation. METHODS A cross-sectional survey design was adopted， and 410 outpatient participants were selected from Fudan University Shanghai Cancer Center through convenience sampling for questionnaire administration from February to May 2025. Kano model was applied to analyze the demand attributes of 25 pharmaceutical services， while questionnaires were used to assess patients’ awareness and demand status. Subgroup analyses were conducted based on key demographic variables such as gender， age， educational attainment， and economic burdens， to SACA- systematically examine the differences in Kano attribute classification among patients in each subgroup. RESULTS The awareness rate of pharmaceutical outpatient services among patients was only 14.63%， yet those who were aware demonstrated a significantly higher demand rate for such services compared to those who were unaware （P＜0.001）. The demand for pharmaceutical clinic services exhibited a hierarchical characteristic： twelve items were identified as attractive attributes （e. g.， providing suggestions for more affordable treatment options， offering online consultation services， etc.）， five items as expected attributes （e.g.， having a good attitude and being able to patiently answer your questions， etc.）， three items as must-have attributes （e.g.， providing guidance on medication dosage and usage， providing guidance on medication precautions， etc.）， five items as indifferent attributes （e.g.， providing treatment plan recommendations based on the patient’s condition）. There were zero items classified as reverse attribute. Subgroup analysis revealed that female patients showed greater concern for “neat and clean attire of medical staff” than male patients （P＜0.001）； patients under 60 years of age demonstrated stronger demand for “providing treatment plan recommendations based on patients’ conditions” compared to patients aged 60 or above （P＝0.016）； those with below high school education placed greater emphasis on “providing guidance on medication precautions” compared to those with a high school education or above （P＝0.011）； patients with lower economic burdens exhibited stronger preferences for “neat and clean attire of medical staff ” （P＝0.002）. CONCLUSIONS The public awareness rate of pharmaceutical clinic services is considerably low； however， those who are aware of such services demonstrate significantly higher demand. The medication safety-related services and convenience-oriented demands should be prioritized in the development of pharmaceutical clinics. Moreover， the study also revealed that factors such as gender， age， educational level， and economic burdens exert significant influences on patients’ service demands.

Objective:To investigate the performance of chromosome karyotype, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) in prenatal diagnosis of true fetal chromosome mosaicism. Methods:This retrospective study enrolled 40 women with true fetal chromosome mosaicism from 4 071 singleton pregnant women who were indicated for and underwent amniocentesis or/and cordocentesis in the the First Affiliated Hospital of Sun Yat-sen University from April 2018 to August 2021. The results of chromosome karyotyping, CMA and FISH, the types of chromosomal mosaicism, mosaicism ratio and pregnancy outcomes were analyzed using Chi-square test. Results:(1) The detection rate of true fetal mosaicism was 0.98% (40/4 071). (2) Sex chromosome mosaicism accounted for 42.5% (17/40). Other chromosomal mosaicism involved chromosomes 21, 22, 18, 16, 7, 12, 15, 17 and 20, as well as balanced chromosomal translocation. (3) The detection rate of true fetal mosaicism by chromosome karyotyping was 77.4% (24/31) from amniotic fluid samples and 10/19 from umbilical cord blood samples, while that data by CMA was 76.7% (23/30) and 7/11,respectively. (4) Of the 40 pregnant women with fetal chromosome mosaicism, FISH test was performed on 20 cases (14 cases were verified with both amniotic fluid and umbilical cord blood samples, five with amniotic fluid samples and one with umbilical cord blood sample), and all of the diagnosis of mosaicism were confirmed. For those with mosaicism ratio <30%, the detection rate by FISH was higher than that by CMA among amniotic fluid samples [14/19 vs 43.5% (10/23), χ2=3.88, P=0.049]. (5) Among the 40 pregnant women, five were lost to follow-up; 18 chose to terminate the pregnancy; and 17 continued the pregnancy to delivery. No abnormalities in mental or physical development were reported in the 17 neonates after birth or during on-line follow-up between 6 to 24 months old. Of the 14 pregnant women with mosaicism ratio <30% which confirmed by FISH, eight chose to continue the pregnancy, and no abnormalities in mental development or growth were found in the neonates. Conclusions:In prenatal diagnosis of true fetal choromosome mosaicism, the incidence of sex chromosome mosaicism is the highest. FISH may improve the prenatal diagnosis rate of mosaicism and is more accurate in determining the mosaicism ratio. The combination of FISH, CMA and chromosome karyotyping would significantly improve the detection rate of chromosomal mosaicism and assess the mosaicism ratio more accurately, which is of great value in clinical consultation and evaluation of fetal prognosis.

OBJECTIVE: To explore the effects of lead exposure on inflammatory damage of hippocampus and cognitive impairment in diabetic rats. METHODS: The specific pathogen free(SPF) male healthy Wistar rats were randomly divided into control group and lead-exposed group. The SPF male Goto-Kakisaki Wistar rats rats were randomly divided into diabetes group and diabetes lead-exposed group, with 10 rats in each group. Rats in lead-exposed group and diabetes lead-exposed group were continuously exposed to lead acetate water with a mass fraction of 0.025% for 9 weeks. Rats in control group and diabetes group were given distilled water. The body weight and blood glucose level of rats were measured before lead exposure and at 1, 3, 5, 7 and 9 weeks after exposure. After the exposure, Morris water maze test was used to evaluate the learning and memory ability of rats. The lead levels in whole blood and hippocampal tissues were detected by inductively coupled plasma mass spectrometry, and the expression of mRNA and protein expression of inflammatory factors in hippocampal tissues of rats were detected by real-time fluorescence quantitative polymerase chain reaction and enzyme-linked immunoadsorption, respectively. RESULTS: At the end of lead exposure, the difference of body mass of rats in the diabetes group and the diabetes lead-exposed group was not statistically significant compared with that in the same group before exposure(all P values were >0.05); but the body mass of rats in these two groups was lower than that of the control group and the lead-exposure group(all P values were <0.05). The blood glucose levels of rats were higher in the diabetic group and the diabetes lead-exposed group than that in the control group and the lead-exposed group, respectively(all P values were <0.05). Morris water maze test showed that the escape latency of rats in the 1 st, 2 nd and 3 rd day were longer in diabetes group and the diabetes lead-exposed group than that in the control group and the lead-exposed group(all P values were <0.05). The number of times of crossing platforms were less in the lead-exposed group and the diabetes group than that of the control group(all P values were <0.05). The number of times of crossing platforms was more in the diabetes lead-exposed group than that in the other 3 groups(all P values were <0.05). The levels of lead in blood and hippocampus of rats were higher in the lead-exposed group than those in the control group(all P values were <0.05), and those in the diabetes lead-exposed group were higher than that in the other 3 groups(all P values were <0.05). The relative expression of mRNA of interferon-γ(ifn-γ) and interleukin(il)-6 in hippocampal tissues of rats was higher in the lead-exposed group and the diabetes group than that of the control group(all P values were <0.05). The relative expression of mRNA of tumour necrosis factor-α(tnf-α) and il-1β in the hippocampal tissues of rats was higher in the diabetes group than that of the control group and the lead-exposed group, respectively(all P values were <0.05). The relative expression of mRNA of ifn-γ, tnf-α, il-1β and il-6 in hippocampal tissues of rats was higher in the diabetes lead-exposed group than that of the other 3 groups(all P values were <0.05). The relative protein expression of IFN-γ, TNF-α, IL-4 and IL-6 in hippocampal tissues of rats was higher in lead-exposed group than that of the control group(all P values were <0.05). The relative protein expression of IFN-γ, TNF-α, IL-1β and IL-6 in hippocampal tissues of rats was higher in diabetes group than that of the control group(all P values were <0.05). The relative protein expression of IFN-γ, IL-1β and IL-6 in hippocampal tissues of rats was higher in diabetes group than that of the other 3 groups(all P values were <0.05). CONCLUSION: Diabetes can promote the lead accumulation in the blood and hippocampus of rats. The combined effect of lead exposure and diabetes can up-regulate the expression of pro-inflammatory cytokines in the hippocampal tissues of rats, aggravate the inflammatory response, and have a synergistic effect on the cognitive impairment in rats.

Objective To analyze our experience in laparoscopic common bile duct ( CBD) explo-ration using a 5 mm choledochoscope through a micro-incision at the junction between the cystic duct and the CBD for patients with choledocholithiasis and cholecystolithiasis. Methods From January 2014 to May 2018, laparoscopic common bile duct exploration through a micro-incision at the cystic duct-CBD junction was performed in 77 patients with choledocholithiasis and cholecystolithiasis at Beijing Tongren Hospital, Capital Medical University. Results Laparoscopic common bile duct exploration was performed successfully through a micro-incision in 77 patients with primary suturing of the micro-incision. The range of operation time, blood loss, and hospital stay were 65～150 min, 10～50 ml, and 4～9 d respectively. Seven patients developed minor bile leakage postoperatively and were treated successfully after 3 ～7 days of conservative treatment. Conclusion Common bile duct laparoscopic exploration using a choledochoscope for choledocho-lithiasis and cholecystolithiasis through a micro-incision at the junction of cystic duct and CBD was a safe and effective method.

OBJECTIVETo perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation.

METHODSG-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software.

RESULTSG-banded karyotyping failed to detect any abnormalities in both fetuses and their parents. SNP array detected a 2.484 Mb terminal deletion at 17p13.3 [arr[hg19] 17p13.3 (83 035-2 567 405)×1] in fetus 1 and a 3.295 Mb terminal deletion at 17p13.3p13.2 [arr[hg19] 17p13.3p13.2 (83 035- 3 377 560)×1] in fetus 2. Both deletions have overlapped with the critical region of Miller-Dieker syndrome (MDS) and involved candidate genes such as PAFAH1B1, YWHAE and CRK. In addition, SNP array and FISH analyses on the parental peripheral blood samples demonstrated that both 17p13.3 and 17p13.3p13.2 deletions were of de novo origin. Metaphase FISH performed on amniotic fluid cells confirmed the presence of 17p13.3 and 17p13.3p13.2 deletions detected by the SNP array, while metaphase FISH performed on the parents excluded any potential chromosome rearrangements.

CONCLUSIONAbnormal ultrasound features for fetuses with MDS mainly include central nervous system anomalies. SNP array can efficiently detect 17p13.3 microdeletions underlying MDS, and accurately map the breakpoints and involved genes, which may facilitate understanding of the genotype and phenotype correlations for MDS.

Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; genetics ; Classical Lissencephalies and Subcortical Band Heterotopias ; diagnostic imaging ; genetics ; Female ; Fetal Diseases ; diagnostic imaging ; genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Phenotype ; Polymorphism, Single Nucleotide ; Pregnancy ; Ultrasonography, Prenatal ; methods

OBJECTIVETo analyze a fetus with increased nuchal translucency and nuchal fold, and to assess the recurrence risk for her family and provide a basis for prenatal diagnosis.

METHODSG-banded karyotyping and single nucleotide polymorphism-based array (SNP-Array) analysis were used to analyze the fetus and her parents.

RESULTSSNP-Array analysis has detected a 41.04 Mb duplication at Xp22.33p11.4 and a 30.51 Mb duplication at 13q31.3q34 in the fetus. G-banding karyotyping indicated that the fetus had a karyotype of 46,X,der(X)(13qter-13q31::Xp11.4-Xp22.3::Xp22.3-Xqter). Her parents had normal results for both G-banding karyotyping and SNP-Array analysis, suggesting that the fetus has carried a de novo derivative chromosome X.

CONCLUSIONSNP-Array combined with G-banding karyotyping is helpful to confirm the composition and connection type of de novo derivative chromosome, which can improve the accuracy of diagnosis and is valuable for the evaluation of recurrence risk.

Adult ; Chromosome Banding ; Chromosome Duplication ; Chromosomes, Human, X ; genetics ; Female ; Fetus ; abnormalities ; metabolism ; Humans ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; methods ; Sex Chromosome Aberrations

OBJECTIVETo analyze a fetus presenting with complex heart defect and assess the recurrence risk.

METHODSConventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents.

RESULTSSNP-array has detected a 6.9 Mb microdeletion at 1p36.33-p36.23 in the fetus. Chromosomal and FISH analyses indicated that the father of the fetus had a karyotype of 46,XY,t(1;14)(p36.3;p12), and that the fetus has inherited an abnormal chromosome 1 derived from the paternal translocation.

CONCLUSIONSNP-array combined with GTG banding and FISH can help to detect cryptic translocation, microdeletion or microduplication of chromosomes and is valuable to assess the recurrence risk for the affected family.

Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Female ; Heart Defects, Congenital ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.

METHODSG-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents.

RESULTSSNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at 17q24.3q25.3 in the fetus. Based on the results of SNP array and FISH analysis, the father was diagnosed with a cryptic t(1;17)(q44;q24.3) translocation. The fetus has inherited a der(1)t(1;17)(q44;q24.3) from its father.

CONCLUSIONThe 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.

Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 17 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Polymorphism, Single Nucleotide ; Pregnancy ; Translocation, Genetic ; Trisomy ; genetics ; Ultrasonography, Prenatal

OBJECTIVETo analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype.

METHODSFetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample. Fluorescence in situ hybridization (FISH) was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation.

RESULTSThe karyotype of fetus was found to be 46, XY by G-banding analysis. However, a 3.132 Mb microdeletion was detected in chromosome region 17q11.2 by SNP array, which overlaped with the region of NF1 microdeletion syndrome. Analyzing of the specimens from the fetus and its parents with FISH has confirmed it to be a de novo deletion.

CONCLUSIONTalipes equinovarus may be an abnormal sonographic feature of fetus with atypical NF1 microdeletion which can be accurately diagnosed with SNP array.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; genetics ; Craniofacial Abnormalities ; diagnosis ; embryology ; genetics ; Female ; Gene Deletion ; Humans ; Intellectual Disability ; diagnosis ; embryology ; genetics ; Karyotyping ; Learning Disorders ; diagnosis ; genetics ; Male ; Neurofibromatoses ; diagnosis ; embryology ; genetics ; Neurofibromatosis 1 ; diagnosis ; embryology ; genetics ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo analyze a fetus with heart defects and to assess the recurrence risk for her family.

METHODSSingle nucleotide polymorphism-based arrays (SNP-Array) analysis using Affymetrix Genome Wide Human SNP CytoHD was performed to analyze the fetus and her parents. Karyotype analysis was also carried out.

RESULTSSNP-Array has detected a 14.5 Mb duplication at 9p and a 14.7 Mb deletion at 11q. Karyotype analysis indicated that the fetus' mother has a karyotype of 46, XX, t(9;11) (p23;q24). Therefore, the fetus has inherited a derivative chromosome 11 derived from the maternal translocation, and her karyotype was 46, XX, der(11) t(9;11) (p23;q24) mat.

CONCLUSIONSNP-Array combined with high resolution GTG banding has confirmed that the fetus has a derivative chromosome 11 derived from her mother's balanced translocation, resulting in partial 9p trisomy and partial 11q monosomy. This couple therefore have a high recurrence risk. SNP-Array is capable of detecting small chromosomal imbalance in abnormal fetuses and can pinpoint the breakpoints. It therefore has the advantage for the detection of unbalanced translocation which is difficult to detect with GTG banding, which is important for assessment the recurrence risk for cryptic balanced translocation carriers.

Adult ; Chromosomes, Human, Pair 11 ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Translocation, Genetic