OBJECTIVE: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms. METHODS: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents. RESULTS: Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3. CONCLUSION The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.
Pregnancy ; Female ; Humans ; Mosaicism ; Ring Chromosomes ; Vena Cava, Superior ; Chromosome Aberrations ; Prenatal Diagnosis ; Microarray Analysis ; Fetus/diagnostic imaging*

INTRODUCTION: Umbilical cord milking (UCM) is a method that allows for postnatal placental transfusion. The benefits of UCM have been demonstrated in some studies, but knowledge about its haemodynamic effects in term infants is limited. The aim of this study was to evaluate the haemodynamic effects of UCM in term infants. METHODS: In this prospective, randomised controlled study, 149 healthy term infants with a birth week of ≥37 weeks were randomly assigned to either the UCM or immediate cord clamping (ICC) group. Blinded echocardiographic evaluations were performed in all the neonates in the first 2-6 h. RESULTS: Superior vena cava (SVC) flow measurements were higher in the UCM group compared to the ICC group (132.47 ± 37.0 vs. 126.62 ± 34.3 mL/kg/min), but this difference was not statistically significant. Left atrial diameter (12.23 ± 1.99 vs. 11.43 ± 1.78 mm) and left atrium-to-aorta diastolic diameter ratio (1.62 ± 0.24 vs. 1.51 ± 0.22) were significantly higher in the UCM group. There were no significant differences in other echocardiographic parameters between the two groups. CONCLUSION We found no significant difference in the SVC flow measurements in term infants who underwent UCM versus those who underwent ICC. This lack of significant difference in SVC flow may be explained by the mature cerebral autoregulation mechanism in term neonates.
Infant, Newborn ; Infant ; Humans ; Pregnancy ; Female ; Infant, Premature/physiology* ; Umbilical Cord Clamping ; Prospective Studies ; Vena Cava, Superior/diagnostic imaging* ; Placenta ; Umbilical Cord/physiology* ; Constriction ; Hemodynamics/physiology*

OBJECTIVES: To study the value of bedside echocardiography in predicting persistent patency of the ductus arteriosus during the early postnatal period in very low birth weight (VLBW) infants. METHODS: A retrospective analysis was performed for 51 VLBW infants who were admitted from March 2020 to June 2021, with an age of ≤3 days and a length of hospital stay of ≥14 days. According to the diameter of patent ductus arteriosus (PDA) on days 14 and 28 after birth, the infants were divided into three groups: large PDA group (PDA diameter ≥2 mm), small PDA group (PDA diameter <2 mm), and PDA closure group (PDA diameter =0 mm). The echocardiographic parameters measured at 72 hours after birth were compared among the three groups. The receiver operating characteristic (ROC) curve was used to evaluate the value of the echocardiographic parameters in predicting persistent patency of the ductus arteriosus (PDA≥2 mm) at the ages of 14 and 28 days. RESULTS: On day 14 after birth, there were 17 infants in the large PDA group, 11 in the small PDA group, and 23 in the PDA closure group. On day 28 after birth, there were 14 infants in the large PDA group, 9 in the small PDA group, and 26 in the PDA closure group. There were significant differences in gestational age, birth weight, rate of pulmonary surfactant use, and incidence rate of hypotension among the three groups (P<0.05). PDA diameter, end-diastolic velocity of the left pulmonary artery, left ventricular output, and left ventricular output/superior vena cava flow ratio measured at 72 hours after birth were associated with persistent patency of the ductus arteriosus at the ages of 14 and 28 days (P<0.05), and the ratio of the left atrium to aorta diameter was associated with persistent patency of the ductus arteriosus at the age of 28 days (P<0.05). The ROC curve analysis showed that the area under the curve that the PDA diameter measured at 72 hours after birth predicting the persistent patency of the ductus arteriosus at the ages of 14 and 28 days was the largest (0.841 and 0.927 respectively), followed by end-diastolic velocity of the left pulmonary artery, with the area under the curve of 0.793 and 0.833 respectively. CONCLUSIONS The indicators obtained by beside echocardiography at 72 hours after birth, especially PDA diameter and end-diastolic velocity of the left pulmonary artery, can predict persistent patency of the ductus arteriosus at the ages of 14 and 28 days in VLBW infants, which provides a basis for the implementation of early targeted treatment strategy for PDA.
Ductus Arteriosus, Patent/diagnostic imaging* ; Echocardiography ; Humans ; Infant ; Infant, Newborn ; Infant, Very Low Birth Weight ; Retrospective Studies ; Vena Cava, Superior

Heart Septal Defects, Atrial/diagnostic imaging* ; Humans ; Liver ; Vena Cava, Inferior ; Vena Cava, Superior

A 68-year-old woman presented with weight loss of 7 kg over two years. Clinical examination revealed no specific abnormality and the patient was otherwise asymptomatic. Chest radiography performed to screen for malignancy revealed a soft tissue opacity projected over the mediastinum. Computed tomography of the thorax showed an enhancing anterior mediastinal mass with heterogeneous enhancement and contrast pooling in the arterial phase, followed by homogeneous enhancement in the venous phase, consistent with an aneurysm arising from the superior vena cava. This case highlights superior vena cava aneurysms as extremely rare causes of anterior mediastinal masses. Other causes of anterior mediastinal masses were also discussed.
Aged ; Aneurysm ; diagnostic imaging ; Female ; Humans ; Mediastinum ; diagnostic imaging ; Radiography, Thoracic ; Tomography, X-Ray Computed ; Vena Cava, Superior ; diagnostic imaging

Angiography ; Computed Tomography Angiography ; Coronary Angiography ; Coronary Sinus ; diagnostic imaging ; pathology ; Coronary Vessel Anomalies ; diagnostic imaging ; Humans ; Vena Cava, Superior

This paper introduced surgical treatment of malignancy-related superior vena cava syndrome. Typical cases were presented with diagnostic radiology results. Authors focused on the main approach to the malignancy-related superior vena cava syndrome of surgery. In order to make it simple for junior doctors to learn and practice, all 4 operation methods were described in details. The writer hopes it would be helpful for all the young thoracic surgeons.
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Humans ; Neoplasm Metastasis ; Superior Vena Cava Syndrome ; diagnostic imaging ; etiology ; surgery ; Thymoma ; complications ; diagnostic imaging ; surgery ; Thymus Neoplasms ; complications ; diagnostic imaging ; surgery ; Vena Cava, Superior ; diagnostic imaging ; pathology ; surgery

This study aimed to investigate the causes and managements of the fractures and migrations of the implantable venous access port catheter (IVAPC). The fracture or migration of IVAPC occurred in 4 patients who were treated between May 2012 and January 2014 in Union Hospital, Wuhan, China. The port catheter leakage was found in 2 cases during drug infusion. Catheters that dislodged to the superior vena cava and right atrium were confirmed by port angiogram. The two dislodged catheters were successfully retrieved by interventional procedures. Catheter fracture occurred in two cases during port removal. One catheter was eventually removed from the subclavian vein through right clavicle osteotomy and subclavian venotomy, and the other removed by external jugular venotomy. Flushing the port in high pressure and injury of the totally implantable venous access port (TIVP) during implantation are usually responsible for catheter displacement. Interventional retrieval procedure can be used if the catheter dislodges to the vena cava and right atrium. Catheter fracture may occur during removal if clipping syndrome occurs or the catheter is sutured very tight during implantation.
Angiography ; Catheters, Indwelling ; Central Venous Catheters ; Child ; Child, Preschool ; Device Removal ; methods ; Equipment Failure ; Equipment Failure Analysis ; Female ; Heart Atria ; diagnostic imaging ; surgery ; Humans ; Male ; Middle Aged ; Osteotomy ; methods ; Suture Techniques ; Vena Cava, Superior ; diagnostic imaging ; surgery ; Young Adult

OBJECTIVE: To explore and evaluate the characteristics of spectra wave shapes and parameters of the superior vena cava (SVC) Doppler flow patterns in patients with pulmonary arterial hypertension(PAH) by echocardiography. METHODS: Forty-nine patients with PAH as the PAH group and the paired healthy subjects as the control group were included in this study. Transthoracic echocardiography was used, and the spectra of SVC flow Doppler velocities in the right supraclavicular fossa view were examined and recorded. Peak velocity and velocity time integral (VTI) were measured. RESULTS: The spectra wave shapes of SVC flow velocity in the PAH group were distinguished from those of the control. The peak velocity and VTI of S waves during inspiration and the rate of respiratory changes of peak velocity of SVC flow Doppler velocity in moderate and severe PAH groups were significantly lower than those of the control (P<0.05).The peak velocity and VTI of D waves of SVC flow Doppler velocity in the PAH groups were significantly lower than those of the control (P<0.05). The rate of respiratory changes of peak velocity of D waves in the PAH groups was significantly lower than those of the control (P<0.05). The peak velocity and VTI of AR, and VR waves of SVC flow Doppler velocity in the PAH groups were significantly higher than those of the control (P<0.05). Linear regression analysis revealed a significant correlation between pulmonary arterial systolic pressure(PASP) and the Vexp/Vins ratio (r=0.760, P<0.001). CONCLUSION The spectra wave shapes of SVC flow velocity in the PAH groups were distinguished from those of the control which may have some diagnostic value for PAH.The peak velocities and VTI of S waves during inspiration, D waves, AR waves and VR waves of SVC flow Doppler in the PAH groups are different from the control. The ratio of Vexp/Vins of S wave may be a non-invasive quantitative index to detect PAH.
Adolescent ; Adult ; Blood Flow Velocity ; Case-Control Studies ; Echocardiography, Doppler, Color ; methods ; Female ; Humans ; Hypertension, Pulmonary ; diagnostic imaging ; physiopathology ; Male ; Middle Aged ; Vena Cava, Superior ; diagnostic imaging ; physiopathology ; Young Adult

Arteriovenous Fistula ; complications ; diagnosis ; diagnostic imaging ; Child ; Contrast Media ; Coronary Angiography ; Coronary Vessels ; pathology ; Female ; Humans ; Superior Vena Cava Syndrome ; diagnosis ; diagnostic imaging ; etiology ; Tomography, X-Ray Computed ; Vena Cava, Superior ; abnormalities ; diagnostic imaging