Objective:To explore the mechanism for the occurrence and phenotypic characteristics of Turner syndrome based on a prenatally diagnosed case of a mosaic karyotype containing double pseudo-isodicentric X chromosome and a review of relevant literature.Methods:A fetus who was diagnosed with increased risk of trisomy 21 at the Provincial Hospital Affiliated to Shandong First Medical University in August 2023 was selected as the study subject. Clinical data of the fetus was collected. Following amniocentesis, chromosomal G-banding karyotype analysis and chromosomal microarray analysis (CMA) were carried out. This study has been approved by the Ethics Committee of the Hospital (Ethics No.: SWYX No. 2022-287).Results:The early-trimester screening suggested a high risk of trisomy 21(1/19), with free β-hCG of 116 ng/mL (MoM value 2.35), PAPP-A of 0.394 ng/mL (MoM value 0.12), and NT value of 1.3 mm, though no abnormality was found in the fetus at 19 weeks gestation. The karyotype of amniocyte was determined as 46, X, psu idic(X)(p11.21)[55]/45, X[27]/47, X, psu idic(X)(p11.21)×2[5]/46, XX[13]. CMA has yielded a result of arr[GRCh37] Xp22.33p11.21(168552_55585678)×1[0.67], Xp11.21q28(55703291_155233098)×3[0.5].Conclusion:Karyotypes of Turner syndrome are complex and diverse, and a rare 46, X, psu idic(X)(p11.21)[55]/45, X[27]/47, X, psu idic(X)(p11.21)×2[5]/46, XX[13] mosaic karyotype with double pseudo-isodicentric X chromosome has been identified. Literature review suggested that this karyotype may lead to phenotypic diversification and a risk of reduced sensitivity to hormone therapy.

OBJECTIVE: To explore the mechanism for the occurrence and phenotypic characteristics of Turner syndrome based on a prenatally diagnosed case of a mosaic karyotype containing double pseudo-isodicentric X chromosome and a review of relevant literature. METHODS: A fetus diagnosed with increased risk for trisomy 21 at the Provincial Hospital Affiliated to Shandong First Medical University in August 2023 was selected as the study subject. Clinical data of the fetus was collected. Following amniocentesis, chromosomal G-banding karyotype analysis and chromosomal microarray analysis (CMA) were carried out. This study has been approved by the Ethics Committee of the Hospital (Ethics No.: SWYX No. 2022-287). RESULTS: The early-trimester screening suggested a high risk of trisomy 21 (1/19), with free β-hCG of 116 ng/mL (MoM value 2.35), PAPP-A of 0.394 ng/mL (MoM value 0.12), and NT value of 1.3 mm, though no abnormality was found in the fetus at 19 weeks gestation. The karyotype of amniocyte was determined as 46,X,psu idic(X)(p11.21)[55]/45,X[27]/47,X,psu idic(X)(p11.21)×2[5]/46,XX[13]. CMA has yielded a result of arr[GRCh37] Xp22.33p11.21(168552_55585678)×1[0.67],Xp11.21q28(55703291_155233098)×3[0.5]. CONCLUSION Karyotypes of Turner syndrome are complex and diverse, and a rare 46,X,psu idic(X)(p11.21)[55]/45,X[27]/47,X,psu idic(X)(p11.21)×2[5]/46,XX[13] mosaic karyotype with double pseudo-isodicentric X chromosome has been identified. Literature review suggested that this karyotype may lead to phenotypic diversification and a risk of reduced sensitivity to hormone therapy.
Humans ; Turner Syndrome/diagnosis* ; Female ; Pregnancy ; Chromosomes, Human, X/genetics* ; Mosaicism ; Prenatal Diagnosis ; Karyotyping ; Adult ; Karyotype ; Amniocentesis

Objective:To explore the mechanism for the occurrence and phenotypic characteristics of Turner syndrome based on a prenatally diagnosed case of a mosaic karyotype containing double pseudo-isodicentric X chromosome and a review of relevant literature.Methods:A fetus who was diagnosed with increased risk of trisomy 21 at the Provincial Hospital Affiliated to Shandong First Medical University in August 2023 was selected as the study subject. Clinical data of the fetus was collected. Following amniocentesis, chromosomal G-banding karyotype analysis and chromosomal microarray analysis (CMA) were carried out. This study has been approved by the Ethics Committee of the Hospital (Ethics No.: SWYX No. 2022-287).Results:The early-trimester screening suggested a high risk of trisomy 21(1/19), with free β-hCG of 116 ng/mL (MoM value 2.35), PAPP-A of 0.394 ng/mL (MoM value 0.12), and NT value of 1.3 mm, though no abnormality was found in the fetus at 19 weeks gestation. The karyotype of amniocyte was determined as 46, X, psu idic(X)(p11.21)[55]/45, X[27]/47, X, psu idic(X)(p11.21)×2[5]/46, XX[13]. CMA has yielded a result of arr[GRCh37] Xp22.33p11.21(168552_55585678)×1[0.67], Xp11.21q28(55703291_155233098)×3[0.5].Conclusion:Karyotypes of Turner syndrome are complex and diverse, and a rare 46, X, psu idic(X)(p11.21)[55]/45, X[27]/47, X, psu idic(X)(p11.21)×2[5]/46, XX[13] mosaic karyotype with double pseudo-isodicentric X chromosome has been identified. Literature review suggested that this karyotype may lead to phenotypic diversification and a risk of reduced sensitivity to hormone therapy.

Objective To observe18F-FDG PET/MRI manifestations of gray matter heterotopia(GMH)related epilepsy.Methods Data of 27 patients with GMH and epilepsy diagnosed with MRI were retrospectively analyzed.Brain 18 F-FDG PET/MRI manifestations and complicated brain malformations were observed,and the classification of GMH were performed.Results Among 27 cases,periventricular GMH,focal subcortical GMH,subcortical lamellar(band)GMH and mixed GMH were detected each in 15,2,2 and 8 cases,respectively.Compared with cerebral white matter around the lesion or in the contralateral mirror area of the lesion,glucose hypermetabolism and glucose hypometabolism were found in 22 and 3 cases,respectively,while glucose metabolism was normal in 2 cases.Compared with gray matter in precentral gyrus,glucose hypermetabolism and glucose hypometabolism were observed in 8 and 16 cases,respectively,while glucose metabolism was normal in 3 cases.Six cases complicated with cerebral fissure deformity,6 cases with bilateral cerebellar hemispheric volume reduction,1 case with absence of pellucid septum and lower fornix,1 case with dysplasia of corpus callosum and 1 case with polymicrogyria.Conclusion 18 F-FDG PET/MRI manifestations of GMH related epilepsy had certain characteristics,which were helpful for clinical diagnosis.

There are many treatment options for cancer,and patients need to repeatedly weigh the pros and cons when choosing,consider various health risks and the impact on their families,and are prone to decision-making fatigue,which not only affects their decision-making judgment,but also may affect their physical and mental health.This paper summarizes the concept,theoretical model,and evaluation tools of decision fatigue,and summarizes the influencing factors and coping strategies of decision fatigue in cancer patients,which can provide a reference for domestic medical staff to further develop personalized decision support tools and carry out relevant clinical practice and scientific research.

Objective To detect the expression level of 4-aminobutyrate aminotransferase(ABAT)in bone marrow of patients with myelodysplastic syndrome(MDS),and analyze its influence on clinicopathological features and prognosis of patients.Methods From January 2016 to March 2020,92 patients with MDS and 30 patients with acute myeloid leukemia(AML)from the First Affiliated Hospital of Xingtai Medical College were retrospectively collected.Meanwhile,30 patients with immunothrombocytopenia who did not develop MDS or other clonal diseases of the blood system during a 3-year follow-up were collected as control group.Real-time quantitative fluorescent PCR(qRT-PCR)was used to detect the relative expression level and methylation level of ABAT mRNA of all patients,and the relative expression level and methylation level of ABAT mRNA among different clinical characteristics of MDS patients were compared.Multivariate logistic regression analysis was used to analyze the risk factors affecting the adverse prognosis of MDS.The clinical value of detecting ABAT methylation level in predicting poor prognosis of MDS patients was analyzed by receiver operating characteristic(ROC)curve.Kaplan-Meier method was used to calculate the 3-year survival rate between groups with different ABAT mRNA relative expression levels and methylation levels,and log-rank test was used for their comparison.Results The expression level of ABAT mRNA in MDS group(0.42±0.08)was lower than that in control group(0.56±0.15)and AML group(0.52±0.10),while the methylation level of ABAT(32.51±5.32)was higher than that of AML group(26.21±4.58)and control group(10.25±4.31),and the differences were significant(t=4.251,4.562;10.415,8.326,all P<0.001).The methylation level of ABAT in high-risk patients(42.65±5.32)was higher than that in low-risk patients(25.63±4.16),intermediate-risk-1 patients(30.59±2.51)and intermediate-risk-2 patients(33.25±3.69)by IPSS risk grade,and the differences were significant(t=8.329,7.077,15.874,all P<0.001).Poor Karyotype analysis result[OR(95%CI):4.973(1.524～8.581),P=0.004],high IPSS risk grade[OR(95%CI):8.542(2.365～14.521),P<0.001]and ABAT hypermethylation level[OR(95%CI):6.178(1.589～13.021),P<0.001]were the risk factors affecting the poor prognosis of MDS.The cut-offvalue of ABAT methylation level to predict the poor prognosis of MDS were 30.54,and the area under the curve(AUC),the sensitivity and specificity were 0.92,0.874 and 0.851,respectively.The 3-year survival rate of the high ABAT methylation group(>30.54)was 66.67%,which was lower than that of the low ABAT methylation group(≤30.54)was 93.18%,with significant difference(Log-rank x2=9.814,P=0.002).Conclusion The ABAT methylation levels in MDS bone marrow increase,which is a risk factor affecting the poor prognosis of patients.ABAT basal level>30.54 is expected to become a factors predicting the poor prognosis of patients.

Objective:To investigate the relationship between the cardia morphology under magnetically controlled capsule gastroscopy and the clinical characteristics of subjects.Methods:A total of 216 subjects with gastrointestinal symptoms or receiving physical examination who underwent magnetically controlled capsule gastroscopy at the Department of Gastroenterology, Beijing Chao-Yang Hospital, Capital Medical University from August 2022 to November 2022 were enrolled. All subjects took gastroesophageal reflux disease questionnaire (Gerd-Q) survey. Clinical data of subjects were collected, and images of cardia morphology under magnetically controlled capsule gastroscopy were recorded. The subjects were divided into 4 groups according to differrent cardia morphology based on the degree of relaxation. The clinical characteristics of each group were compared, and the influencing factors for cardia morphology were analyzed.Results:In non-swallowing state, 116 subjects showed good continuous closure of the cardia in plum shape (group A), 33 subjects radial closure of cardia (group B), 46 subjects slightly relaxed linear cardia (group C) and 21 subjects relaxed and continuous opening of cardia in the shape of cave (group D). The ages of subjects in group A, B, C and D were 35.00 (31.00, 42.00) years, 53.00 (37.50, 60.50) years, 61.50 (41.50, 68.25) years and 52.00 (39.00, 70.00) years, respectively, with significant differences ( H=44.348, P<0.001). The Gerd-Q scores of subjects in group A, B, C and D were 1.50 (1.00, 2.00), 3.00 (2.00, 6.50), 8.00 (5.75, 9.00) and 8.00 (7.50, 9.00), respectively, with significant differences ( H=90.788, P<0.001). The body mass index (BMI) of subjects in group A, B, C and D were 22.66 (19.53, 24.70) kg/m 2, 23.44 (21.41, 27.05) kg/m 2, 23.77 (21.19, 26.93) kg/m 2 and 23.73 (19.63,24.79) kg/m 2, respectively, with significant differences ( H=8.114, P=0.044). The degree of cardia relaxation was positively correlated with the age ( rs=0.456, P<0.001), Gerd-Q score ( rs=0.648, P<0.001) and BMI ( rs=0.146, P=0.032) of subjects. Conclusion:The magnetically controlled capsule gastroscopy provides good visualisation of cardia morphology in non-swallowing state. There is a positive correlation between the degree of cardia relaxation under magnetically controlled capsule gastroscopy in non-swallowing state and the subjects' age, Gerd-Q score, and BMI.

OBJECTIVE: To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. METHODS: A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. RESULTS: Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal. CONCLUSION The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.
Humans ; Fetus/abnormalities* ; Chromosomes, Human, Pair 8 ; Female ; Pregnancy ; Karyotyping

Objective:To investigate the characteristics of endoscopic ultrasonography for rectal neuroendocrine neoplasms (R-NENs) of different origin and its influence on the diagnosis and treatment.Methods:A retrospective cross-sectional study was conducted to analyze 56 cases of R-NENs diagnosed by miniprobe endoscopic ultrasonography (MEUS) and/or pathology in the Endoscopy Center of Beijing Chaoyang Hospital, Capital Medical University from January 2016 to July 2021. The endoscopic ultrasonography characteristics, pathological features, surgical selection and the follow-up of R-NENs originating from deep mucosa and submucosa were compared.Results:Among the 56 patients, 49 were diagnosed as R-NENs.The diagnostic sensitivity, positive predictive value and diagnostic accuracy of MEUS for R-NENs were 93.88% (46/49), 86.79% (46/53) and 82.14% (46/56), respectively. R-NENs were mainly manifested by medium hypoechoic with MEUS [95.92% (47/49)]. Three R-NENs originated from submucosa were missed diagnosis, with 1 case presenting hypoechoic and 2 cases presenting hyperechoic. There were no significant differences in the tumor diameter, echo intensity under endoscopic ultrasonography, echo uniformity and pathological grade composition between deep mucosal origin and submucosal origin R-NENS (all P>0.05), but there was significant differences in the distance from tumor to anus ( χ2=5.011, P=0.025). The proportion of the distance from tumor to anus ≤5 cm of submucosal origin lesions was significantly higher than that of deep mucosal origin [43.75% (14/32) VS 17.65% (3/17)]. Endoscopic submucosal dissection [67.5% (27/40)] and transanal endoscopic microsurgery [25.0% (10/40)] were the major treatment method, but there were no significant differences in endoscopic ultrasonography manifestations and pathological grading of R-NENs between these two surgical procedures. Conclusion:There is no significant difference in endoscopic ultrasonography manifestations and pathological grade of R-NENs between deep mucosal origin and submucosal origin, suggesting that the prognosis is similar between the two types. It is no significant influence of endoscopic ultrasonography manifestations of R-NENs at different levels of origin.

Objective:To investigate the clinical application value of magnetically controlled capsule endoscopy (MCCE) for risk assessment of upper gastrointestinal bleeding in elderly patients taking enteric-coated aspirin.Methods:Clinical data of elderly patients taking enteric-coated aspirin and undergoing MCCE from January 2018 to December 2020 in Beijing Chaoyang and Beijing Anzhen Hospital, Capital Medical University were analyzed. Patients were divided into low-risk group (scores ≤ 3) and moderate/high risk group (scores >3) to study the risk assessment of upper gastrointestinal bleeding in elderly patients taking enteric-coated aspirin.Results:A total of 66 patients (aged 60-81 years, 45 males and 21 females) were enrolled and 17 patients developed bleeding. The indicators of low-risk ( n=51) and moderate/high risk groups ( n=15) were as follows: the incidences of upper gastrointestinal bleeding were 17.6% and 53.3%( P<0.001), gastric ulcer 5.9% and 26.7% ( P<0.001), median gastric Lanza score 2.0 and 2.0( P=0.621), duodenal ulcer 2.0% and 18.8% ( P<0.001), median duodenal mucosal injury score 1.0 and 1.0( P=0.936), respectively. Receiver operator characteristic curve showed that the area under the curve of risk assessment of upper gastrointestinal bleeding in elderly patients taking enteric-coated aspirin by MCCE was 0.855. Conclusion:Risk assessment of upper gastrointestinal bleeding in elderly patients taking enteric-coated aspirin can be used to predict the risk of upper gastrointestinal bleeding, but the scoring rules need to be further improved. Moderate and high-risk patients should undergo MCCE to monitor aspirin related upper gastrointestinal mucosal injury.