[Comparison between Ultrasonography and CT in Diagnosis of Cervical Lymph Node Metastasis of Papillary Thyroid Carcinoma].

Objective To evaluate the efficacy of ultrasound and computed tomography (CT) in diagnosing cervical lymph node metastasis (CLNM) of papillary thyroid carcinoma (PTC). Methods The patients with PTC treated by surgery in the Chinese PLA General Hospital from January 2016 to January 2021 were selected for analysis.All the patients underwent preoperative ultrasound and CT examinations,the diagnostic values of which for CLNM were retrospectively analyzed. Results A total of 322 PTC patients were enrolled in this study,including 242 with CLNM and 80 with non-CLNM.The CLNM group and non-CLNM group had significant differences in age,tumor size,and maximum size of lateral CLNM (χ2=20.34,27.34,and 4.30,respectively,all P<0.001).For the central compartment,lateral compartment,and overall compartment,ultrasound diagnosis showed higher sensitivity (χ 2=82.26,P<0.001;χ2=114.01,P<0.001;χ2=82.26,P<0.001) and accuracy (χ2=20.27,P<0.001;χ2=15.56,P<0.001;χ2=44.00,P<0.001) than CT,and had no significant differences from ultrasound combined with CT (all P>0.05).However,ultrasound diagnosis had lower specificity than CT (χ2=17.01,P<0.001;χ2=21.29,P<0.001) in the central compartment and lateral compartment.Receiver operating characteristic curve analysis showed that in the central compartment,lateral compartment,and overall compartment,ultrasound diagnosis had larger AUC than CT (Z=2.99,P=0.003;Z=3.86,P<0.001;Z=4.47,P<0.001) and had no significant difference from ultrasound combined with CT (Z=1.87,P=0.062;Z=1.68,P=0.093;Z=1.61,P=0.107). Conclusions Ultrasound and CT have their own advantages in the diagnosis of central and lateral CLNM.In general,ultrasound has better performance than CT in the diagnosis of CLNM.

Sonographic appearances of retained surgical sponges in the abdomen and pelvis.

PURPOSE: To describe the sonographic (ultrasound-US) features of retained surgical sponges (RSSs) and compare them with the pathological findings. METHODS: Ultrasound features of RSSs in nine patients (seven women and two men) identified between June 1996 and July 2015 were retrospectively analyzed. Patient characteristics including gender and age, location of the sponge, time interval until diagnosis, clinical presentation, and patient complaints were evaluated. RESULTS: The US appearances of RSSs could be classified into three types. Type I (five cases): an echogenic arc with a strong posterior shadow; type II (two cases): US appearance mimicked a cystic teratoma; type III (two cases): a cystic mass with zigzag-shaped internal contents. CT and/or MRI showed a mass with density/signal intensity similar to that of the adjacent soft tissues. CONCLUSION: The characteristic US findings along with a history of surgery can help reach a correct diagnosis of RSS.

[Prenatal genetic test and clinical guidance for 213 hereditary deaf families].

OBJECTIVE: To summarize the workflow, strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice. METHODS: There were 213 families who received prenatal test from 2005 to 2011. Among the 213 families, 205 families had had one deaf child, including 204 couples with normal hearing and one couple of the deaf husband and normal wife, 8 families including 6 couples with normal hearing and 2 deaf couples, had no child before test. Genomic and mitochondrial DNA of each subject was extracted from whole blood. The etiology and recurrent risks in 212 families were confirmed by means of the genetic test of GJB2, SLC26A4 and mtDNA 12sRNA, but one family carried POU3F4 c.647G > A heterozygous mutation causing X-linked hereditary hearing impairment confirmed by pedigree study. The prenatal test was carried out during the pregnancy of all mothers from 11 to 30 weeks, and the following genetic information and counseling were supplied based on the results. RESULTS: The recurrent risk was 25% in 209 families, including 204 families with one deaf child and 5 families without child, among which all couples were GJB2 or SLC26A4 mutation carriers and deaf children were caused by homozygous or compound GJB2/SLC26A4 mutations; The recurrent risk was 50% in 3 families, the father and his child in one family had compound SLC26A4 mutations and the mother with heterozygous SLC26A4 mutation, the wife had POU3F4 c.647G > A heterozygous mutation in another one family, and the husband with compound SLC26A4 mutations and the wife with mtDNA A1555G mutation and heterozygous SLC26A4 mutation simultaneously happened in the rest one family; The recurrent risk was 100% in one family of the deaf couple who were both found to carry homozygous or compound GJB2 mutations, and the deaf wife got pregnant by artificial insemination with the sperm from the local Human Sperm Bank. 226 times of prenatal test were applied in all 213 families that 11 families of them received prenatal test twice, and one family received three times. 46 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands; while 180 times of prenatal test showed that the fetuses carried only one parental mutation or did not carry any mutation from parents. The following visit showed that all of these 180 families had given birth to babies who were all revealed to have normal hearing by new born hearing screening test. CONCLUSIONS: Prenatal diagnosis for deafness assisted by genetic test can provide efficient information about offspring's hearing condition, and the normative workflow and precise strategy highly guarantee the safe and favorable implementation of prenatal diagnosis.

[Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities].

OBJECTIVE: To investigate the value of detection of fetal cell-free fetal DNA (cff-DNA) in maternal plasma in the prenatal diagnosis of chromosomal abnormalities. METHODS: The plasma from 3200 gravidas (singleton with 20.3 ± 3.8 gestational weeks) was collected from April 1(st) 2011 to May 30(th) 2012. They were divided into 3 groups: (1) To tally 1720 cases were included in the high-risk serological screening group, in which women were younger than 35 years and got high-risk results in serological screening; (2) To tally 1310 cases were included in the advanced age group, in which women's age was more than 35 years; (3) To tally 170 cases were included in the supplementary group, in which women were younger than 35 years and got low-risk results in serological screening, or women who didn't take serological screening tests. All the 3030 gravidas in group 1 and 2 didn't take invasive prenatal diagnosis because of fear of abortion or short of prenatal diagnosis. Cff-DNA were detected by next generation sequencing in Shenzhen BGI Genomics Center for clinical laboratory. Amniocentesis and karyotype analysis were provided to the positive cases and women with negative results were followed-up by telephone. RESULTS: (1) The 3200 cases took cff-DNA detection, and 31 cases got positive results, including 27 cases of trisomy 21 and 4 cases of trisomy 18. Sixteen cases of trisomy 21 and 1 case of trisomy 18 were in the high-risk serological screening group. 7 cases of trisomy 21 and 2 cases of trisomy 18 were in the advanced age group. Four cases of trisomy 21 and 1 case of trisomy 18 were in the supplementary group. (2) And the 84% (26/31) cff-DNA detecting positive cases received amniocentesis. In the 27 trisomy 21 positive cases, 23 received amniocentesis and got karyotype of 47XN, +21, with the diagnostic accordance rate of 100%. In the 4 cases who didn't take karyotype analysis, fetal anomaly (ventricular septal defect, dextrocardia and choroid plexus cyst) was found in 1 case before 20 gestational weeks; intrauterine fetal demise happened in 1 case before getting the result; 2 other cases who already had healthy children took abortion in the local hospital without taking amniocentesis. In the 4 trisomy 18 positive cases, 3 took amniocentesis, 2 of which were trisomy 18 and took abortion, the other was chimera (46, XN/47, XN, +18) with only 2% cells of trisomy 18, with no malformation found after delivery. Hypoevolutism (3 weeks less than gestational week), general hydropsy and intrauterine fetal demise happened before the other case took amniocentesis. (3) Follow up of cff-DNA negative cases:until May 30(th) 2012, no Down's baby was found in the 1230 cases with cff-DNA test negative results. CONCLUSIONS: (1) The non-invasive fetal trisomy test (NIFTY) by next generation sequencing is a safe, accurate and high throughput method for the prenatal diagnosis of trisomy-21. (2) Use NIFTY as a further screening for pregnant women with high-risk serological screening results could lower invasive prenatal diagnosis rate. (3) Cases with positive NIFTY test results should receive amniocentesis and karyotype analysis to confirm the diagnosis before abortion.

[Detection of trisomy 21 by quantitative fluorescent PCR in clinical samples undergoing prenatal diagnosis for hereditary hearing loss].

OBJECTIVE: To establish the genetic test technique of trisomy 21 concurrently conducts with prenatal diagnosis for hereditary hearing loss. METHODS: Fifty-four pregnant women who underwent prenatal diagnosis for hearing loss of their fetuses in Chinese People's Liberation Army General Hospital from March 2009 to May 2010 were enrolled in this study. All probands from the deaf families have confirmed the causative mutation for hearing loss in Genetic Testing Center in Chinese People's Liberation Army General Hospital. The mean age of 54 pregnant women is 31 years at pregnancy of 18 - 26 weeks, 5 cases > pregnancy of 23 weeks, 9 cases ≥ 35 years. All subjects did not conduct the serologic tests for trisomy 21 before. Fifteen to twenty ml amniotic fluid was drawn from 49 cases at pregnancy of 18 - 23 weeks and 5 cases > pregnancy of 23 weeks. One to two ml umbilical blood was drawn from 5 cases > pregnancy of 23 weeks. For 9 cases ≥ 35 years, amniotic fluid cell culture and karyotyping analysis were conducted concurrently. A multiple quantitative fluorescent (QF) PCR and six microsatellite markers were applied to diagnosis trisomy 21. The samples with peaks of 1:1:1 or 2:1 at two microsatellite markers can be diagnosed as trisomy 21. RESULTS: (1) Fifty-four fetuses were successfully conducted prenatal genetic diagnosis for hearing loss (included GJB2 and SLC26A4). Ten fetuses copied the exactly same genotypes as the probands. The other 44 cases fetuses did not copy the same genotypes as the probands and won't develop hearing loss. The hearing test showed normal hearing for the neonates. (2) All the 54 fetuses were excluded of trisomy 21 by QF-PCR and were verified after birth. Five fetuses with advanced maternal age were performed karyotyping analysis and showed normal. The diagnostic results of QF-PCR can be obtained in 1-3 days without misdiagnosed. CONCLUSIONS: QF-PCR is an efficient, rapid and accurate technique for detection of trisomy 21 without increasing sample amount. It can be used for fetuses who were undertaken hearing loss gene test or other prenatal gene test.

[Diagnosis of spina bifida in fetuses using tomographic ultrasound imaging: a preliminary study].

OBJECTIVE: To assess the value of tomographic ultrasound imaging (TUI) in the diagnosis of spina bifida in fectuses. METHODS: Eight fetuses suspected of having spina bifida following 2-D ultrasound underwent TUI examination. The fetal spines were observed on the coronal, transverse and sagittal views to confirm the location and severity of the spinal lesions, and the ultrasound findings were compared with the pathological results. RESULTS: In 6 of the 8 fetuses with spina bifida, TUI obtained clear images demonstrating the presence of the lesions, and the results of TUI diagnosis were consistent with pathological examination of the fetuses. CONCLUSIONS: TUI can clearly visualize spinal bifida in fetuses, and as a useful complementary technique to 2-D ultrasound, TUI may obviously improve the capacity of conventional ultrasound for diagnosis of fetal spina bifida.

[Prenatal diagnosis for hereditary deaf families assisted by genetic testing].

OBJECTIVE: To provide prenatal diagnosis for deaf families, which the first child was confirmed to be hereditary deafness caused by gap junction beta-2 (GJB2) or SLC26A4 (PDS) mutation, to avoid another deaf birth in these families. METHODS: Eight deaf families joined in this study. Each family had one child with severe to profound hearing loss while parents had normal hearing except a deaf father from family 8; mothers had been pregnant for 6-28 weeks. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) A1555G mutation were firstly performed in probands and their parents whose DNA was extracted from peripheral blood, and then prenatal testing was carried out in the fetus whose DNA was extracted from different fetus materials depending on the time of gestation. RESULTS: The probands from family 1-4 were found to carry homozygous or compound GJB2 mutations while their parents carried corresponding heterozygous GJB2 mutations. The probands from family 5-8 and the deaf father from family 8 were found to carry compound SLC26A4 mutations while their parents and the mother from family 8 carried a single SLC26A4 mutation. Prenatal testing showed that the fetuses from family 1, 5, 8 only carried the paternal mutation and the fetuses from family 2, 3, 6 didn't carry any GJB2 or SLC26A4 mutations. The new born babies from these six families all had normal hearing revealed by new born hearing screening. However, the fetuses from family 4,7 carried the same mutations with probands in each family. The parents from family 4, 7 decide to terminate pregnancy. CONCLUSION: Prenatal diagnosis assisted by genetic testing can provide efficient information about hearing condition of their offsprings.

[Establishment of animal models of endometriosis in rhesus monkeys].

OBJECTIVE: To establish animal models of endometriosis in rhesus monkeys and study the invasion mechanism of endometriosis. METHODS: Five female healthy rhesus monkeys with regular menstrual cycles were selected, of whom 4 were used for endometriosis model establishment and 1 for control. During the period of days 8-15 of menstruation, or 3-5 days after the midcycle estrogen peak, the endometrium was implanted into the pelvic cavity other than the uterus in the experimental group, and in the control group, the greater omentum was implanted instead. Exploratory laparotomy or laparoscopy was performed during the period between days 8 and 15 of menstruation in the second and the fourth month respectively after the implantation for observing the occurrence of endometriosis. RESULTS: In the experimental group, the implanted endometrium survived in the receptor site in 3 monkeys, 2 of whom were found to have chocolate cyst after the operation. Laparoscopy was again performed in the 2 monkeys with endometriosis 4 months after the operation, showing pelvic adhesion and growth of ectopic endometrium similar to the changes as observed two months after the operation. In comparison with the control, deteriorated mental states and dietary changes, along with body weight losses, occurred in the 3 models of endometriosis, and 2 of them later died of intussusception. CONCLUSIONS: Animal models of endometriosis can be established successfully in rhesus monkeys on the basis of the implantation theory, which, however, is influenced by individual differences between the animals. Heredity is an important factor in pathogenesis of endometriosis, and ectopic growth of the endometrium may severely impact the body function.