Purpose To investigate the relationships between the genetic variations and clinicopathological fea-tures of thyroid carcinoma in a single-center cohort.Methods The correlation between genetic profiling and clinico-pathologic characteristics of thyroid carcinomas detected by next-generation sequencing was analyzed.Results 93.7％of 238 cases of thyroid cancer had Class Ⅰ or Class Ⅱ variations.Compared with TCGA cohort,the single-center of pa-tients with papillary thyroid cancer(PTC)were younger(44.4±12.4 vs 46.8±15.5,P=0.043),and the rate of lymph node metastasis was higher(57.5％vs 49.2％,P=0.046).The frequency of BRAF gene mutation was signifi-cantly higher(82.4％vs 59.7％,P＜0.001),that of RAS gene mutation(2.3％vs 12.9％,P＜0.001)and TERT promoter mutation was lower(1.8％vs 9.4％,P＜0.001).There were no differences in the incidences of RET fusion(5.4％vs 6.8％,P=0.484)and NTRK fusion(4.1％vs 2.1％,P=0.127).Gene mutations were detected in 210 of 221(95.0％)patients with PTC,including BRAF(182/221,82.4％),RET fusion(12/221,5.4％),NTRK fusion(9/221,4.1％),FGFR amplification(6/221,2.7％),CCND1 amplification(6/221,2.7％),FGFR19 am-plification(6/221,2.7％),RAS(5/221,2.3％),PIK3CA(5/221,2.3％),and TERT(4/221,1.8％).NTRK fusion was associated with younger age(P=0.049)and higher T stage(P=0.005),while TERT promoter mutation was associated with older age(P=0.003)and higher T stage(P=0.001).8.6％(19/221)of thyroid papillary car-cinoma had at least two driver gene variants and tended to occur in patients with older age(P=0.001)and higher T tage(P=0.001).Higher mutation allele fraction(MAF)of BRAF was associated with T stage(P＜0.001)and N stage(P=0.017).Conclusion Chinese patients with papillary thyroid carcinomapatients show unique genetic vari-ant characteristics,and the patients with NTRK fusion,TERT promoter mutation,multiple driver gene variations,or high MAF of BRAF show specific clinicopathologic features.

Purpose To investigate the relationships between the genetic variations and clinicopathological fea-tures of thyroid carcinoma in a single-center cohort.Methods The correlation between genetic profiling and clinico-pathologic characteristics of thyroid carcinomas detected by next-generation sequencing was analyzed.Results 93.7％of 238 cases of thyroid cancer had Class Ⅰ or Class Ⅱ variations.Compared with TCGA cohort,the single-center of pa-tients with papillary thyroid cancer(PTC)were younger(44.4±12.4 vs 46.8±15.5,P=0.043),and the rate of lymph node metastasis was higher(57.5％vs 49.2％,P=0.046).The frequency of BRAF gene mutation was signifi-cantly higher(82.4％vs 59.7％,P＜0.001),that of RAS gene mutation(2.3％vs 12.9％,P＜0.001)and TERT promoter mutation was lower(1.8％vs 9.4％,P＜0.001).There were no differences in the incidences of RET fusion(5.4％vs 6.8％,P=0.484)and NTRK fusion(4.1％vs 2.1％,P=0.127).Gene mutations were detected in 210 of 221(95.0％)patients with PTC,including BRAF(182/221,82.4％),RET fusion(12/221,5.4％),NTRK fusion(9/221,4.1％),FGFR amplification(6/221,2.7％),CCND1 amplification(6/221,2.7％),FGFR19 am-plification(6/221,2.7％),RAS(5/221,2.3％),PIK3CA(5/221,2.3％),and TERT(4/221,1.8％).NTRK fusion was associated with younger age(P=0.049)and higher T stage(P=0.005),while TERT promoter mutation was associated with older age(P=0.003)and higher T stage(P=0.001).8.6％(19/221)of thyroid papillary car-cinoma had at least two driver gene variants and tended to occur in patients with older age(P=0.001)and higher T tage(P=0.001).Higher mutation allele fraction(MAF)of BRAF was associated with T stage(P＜0.001)and N stage(P=0.017).Conclusion Chinese patients with papillary thyroid carcinomapatients show unique genetic vari-ant characteristics,and the patients with NTRK fusion,TERT promoter mutation,multiple driver gene variations,or high MAF of BRAF show specific clinicopathologic features.

Objective:To investigate the changes of mortality，causes of death，and cause-specific mortality rate（CMR）of hospitalized neonates in NICU of the First Affiliated Hospital of Sun Yat-sen University.Method:A retrospective study was performed to compare the mortality，cause of death，and CMR of hospitalized neonates in period Ⅰ（2005-2009），period Ⅱ（2010-2014）and period Ⅲ（2015-2020）.Result:The overall mortality of hospitalized neonates in NICU of our hospital was 0.51%（104/20 493）through 2005 to 2020. The mortality in period Ⅰ，Ⅱ and Ⅲ were 0.61%（48/7 855），0.43%（27/6 209），and 0.45%（29/6 429），respectively. Compared with period Ⅰ，the mortality of preterm infants decreased significantly in period Ⅱ（3.14% vs 1.24%， χ2=14.076， P<0.01）and in period Ⅲ（3.14% vs 0.90%， χ2=25.157， P<0.01）. Eighty-five（81.7%）neonates were premature，and ninety-one（89.2%）neonates had definite abnormal perinatal factors. The CMR of hospitalized neonates related to pulmonary hemorrhage，congenital anomalies，and NRDS were 1.22‰（25/20 493），0.93‰（19/20 493），and 0.59‰（12/20 493），respectively. The CMR of other causes were sepsis 0.44‰（9/20 493），extremely premature 0.34‰（7/20 493），and perinatal asphyxia 0.24‰（5/20 493），respectively. Compared with period Ⅰ，specific mortality of NRDS in period Ⅱ（1.27‰ vs 0.16‰， χ2=5.487， P=0.016）and period Ⅲ（1.27‰ vs 0.16‰， χ2=5.738， P=0.014）significantly decreased. The leading causes of neonatal death in period Ⅰ，period Ⅱ，and period Ⅲ were NRDS，pulmonary hemorrhage，and congenital anomalies，respectively.And 71.2%（74/104）of neonatal deaths occurred within 7 days after birth. Conclusion:The mortality of preterm infants and specific mortality of NRDS in NICU have significantly decreased over the past 16 years.Congenital anomalies and infections remain important causes of death，and further efforts are needed to improve perinatal care.

Colorectal cancer （CRC） is a malignant tumor of the intestinal tract with changes in bowel habits， blood in the stool， and pain as the main clinical manifestations. With the change in lifestyle and diet structure in recent years， the incidence of CRC has been increasing year by year. The pathogenesis of CRC is closely related to abnormal immune response and chronic inflammation， intestinal microbial dysbiosis， and the production of oncogenic metabolites. There is a two-way communication between the intestinal microbiota and the body's immunity， which not only plays a key role in maintaining the body's health but also has a close relationship with the development of diseases. An increasing number of studies have shown that abnormal immune responses accelerate the disease process by producing inflammatory factors， causing chronic inflammation in the body， disrupting the intestinal mucosal barrier， and increasing mucosal permeability， thus resulting in dysbiosis of the intestinal microbial ecology and a large number of pathogenic microorganisms and their metabolites. In addition， dysbiosis of intestinal microbes， by suppressing the normal immune response， leads to the disruption of multiple metabolic pathways in the body， affecting the internal and external stress response of the intestine， inducing inflammation， and thus producing disease. Therefore， the complex crosstalk mechanism between the immune response and intestinal microbial axis is closely related to the development of CRC. Based on traditional Chinese medicine theory and clinical research， it was found that dietary factors are an important causative factor in the development of CRC. The deficiency of positive energy is the root cause of the disease， and damp-heat accumulation is the key pathogenesis. Through modern medical and biological research， it is believed that abnormal immune response is the microscopic manifestation of damp-heat entrapment， while intestinal microbial dysbiosis is the biological basis of toxic injection into the large intestine， and in the pathogenesis of CRC， the imbalance of immune response-intestinal microbial axis is compatible with damp-heat accumulation in traditional Chinese medicine. This study aims to explore the biological connotation of CRC due to damp-heat accumulation from the immune response-intestinal microbial axis， so as to interpret the pathogenesis of CRC due to damp-heat accumulation with objective data and provide new ideas and theoretical basis for the pathogenesis and treatment strategies of CRC due to damp-heat accumulation.

Objective:To investigate the perinatal prognosis and its impact factors for premature infants with twin-twin transfusion syndrome (TTTS) who were born at ≤34 weeks of gestation.Methods:A retrospective study was conducted on 68 pregnancies of TTTS with gestational age ≤34 weeks at delivery, among them 106 preterm infants (TTTS group) were admitted to the neonatal intensive care unit of the First Affiliated Hospital, Sun Yat-sen University from January 2003 to February 2019. During the same period, another 178 twins without TTTS, congenital malformation, and intrauterine intervention who matched the TTTS group in maternal age (differences within two years) and gestational age (differences within one week) were assigned as non-TTTS group. Perinatal prognosis of TTTS infants born at ≤34 weeks was analyzed by comparing the differences in postnatal early complications and perinatal outcomes (survival time morn than 28 days or not) between the TTTS and non-TTTS groups, recipient and donor twins, mild and severe TTTS infants, and among TTTS infants with different intrauterine interventions. The risk factors for perinatal survival in TTTS infants with gestational age ≤34 weeks were analyzed. Two independent samples t-test, one-way analysis of variance, rank-sum test, Chi-square test, and ordered logistic regression were used for statistical analysis. Results:(1) Among the 68 pregnancies, the overall perinatal survival rate of the neonates was 72.1% (98/136), the double-twin survival rate was 48.5% (33/68), and the rate of at least one survivor was 95.6% (65/68). (2) In the TTTS group, 62 were recipients and 44 were donors. Stage Ⅰ-Ⅱ TTTS was found in 41 cases (mild TTTS group) and stage Ⅲ-Ⅴ in 65 cases (severe TTTS group). (3) The rate of severe brain injury was higher in the severe-TTTS group than those in the mild-TTTS group [9.2% (6/65) vs. 0.0% (0/41), χ 2=4.01, P=0.045]. (4) Gestational age ≤28 weeks ( OR=101.90, 95% CI: 5.07-2 048.37), stage Ⅳ ( OR=14.04, 95% CI: 1.56-126.32) and stage Ⅴ TTTS ( OR=51.09, 95% CI: 3.58-728.81) were independent risk factors for death within 28 days (all P<0.05). (5) Compared with the non-TTTS group, the TTTS group had higher rates of neonatal anemia [51.9% (55/106) vs. 33.1% (59/178), χ 2=9.71], polycythemia [5.7% (6/106) vs. 0.6% (1/178), χ 2=7.18], neonatal persistent pulmonary hypertension [3.8% (4/106) vs. 0.0% (0/178), χ 2=6.81], sepsis [15.1% (16/106) vs. 7.3% (13/178), χ 2=4.40], state Ⅲ or higher retinopathy of prematurity [3.8% (4/106) vs. 0.0% (0/178), χ 2=6.81], congenital cardiac structural abnormality [19.8% (21/106) vs. 0.6% (1/178), χ 2=33.45], heart failure [8.5% (9/106) vs. 0.6% (1/178), χ 2=12.29], and renal insufficiency [14.2% (15/106) vs. 1.1% (2/178), χ 2=20.04] (all P<0.05). Conclusions:Compared with the twin premature infants without TTTS, those with TTTS and ≤34 gestational age were more likely to have cardiac, cerebral, and renal complications. The more severe the TTTS, the higher the incidence of severe brain injury. TTTS preterm infants with gestational age ≤28 weeks and stage Ⅳ or above have high risk of death.

Purpose To study the consistency of NTRK fu-sion gene in the thyroid carcinoma detected by four technology platforms:immunohistochemistry,DNA-based NGS,FISH and qRT-PCR.Methods NTRK fusion gene was detected by FISH,immunohistochemical(IHC),DNA-based NGS and qRT-PCR in a same group of 40 clinical cases(among them,31 cases were thyroid cancer samples).Results In a group of 31 thyroid cancer cases detected by four techniques,compared with FISH,the sensitivity,specificity,positive predictive value(PPV),negative predictive value(NPV)and total coincidence rate(TCR)of IHC was 100%(9/9),90.9%(20/22),81.8%(9/11),100%(20/20),93.5%(29/31),respectively.The PPV of IHC was poor.The sensitivity,specificity,PPV,NPV and TCR of DNA-based NGS was 44.4%(4/9),100%(22/22),100%(4/4),81.5%(22/27),83.9%(26/31),respectively,and the sensitivity was poor.The TCR of qRT-PCR was 100%(31/31).Compared with FISH,Kappa value of IHC,DNA-based NGS and qRT-PCR was 0.853,0.532 and 1.000,respectively.Of the 40 clinical cases,the concordance between qRT-PCR and FISH was observed for 39 samples,for the qRT-PCR assay did not cover the NTRK fusion type(LM-NA:exon4-NTRK1:exon10).Compared with FISH,the coinci-dence rate of qRT-PCR was highest.Conclusion The RNA-based assay of qRT-PCR does have the advantages of high sensi-tivity and high specificity,and may be an optimal scheme for routine clinical detection of NTRK fusion variation in thyroid cancer in pathology department.

Objective:To explore the different metabolites in the follicular fluids (FFs) of polycystic ovary syndrome (PCOS) patients and non-PCOS patients and their effects on the maturation of mouse oocytes and the developmental potential of in vitro fertilization (IVF) embryos. Methods:The clinical data were collected for the retrospective cohort study. Animal experiments were conducted in a randomized controlled trial. This study included PCOS ( n=71) and non-PCOS ( n=70) patients who underwent the first IVF or intracytoplasmic sperm injection (ICSI) cycle in Shanghai JIAI Genetics & IVF institute from June 2019 to June 2020. The patients' FFs were collected and the clinical data from these patients were analyzed. Raman spectroscopy analysis technology was used to detect differences in the metabolic spectra of FFs between the two groups. Mouse GV phase oocytes were placed in FFs from PCOS patients and non-PCOS patients for in vitro maturation (IVM) culture respectively, then the matured mouse oocytes were collected for IVF. The effects of differential metabolites in FFs on mouse oocyte maturation and embryonic development were further explored. The Raman spectrum was also applied to identify the differences of the IVM spent culture media. Results:The MⅡ rate [82.19% (886/1 078)] and day 3 available embryo rate [51.30% (553/1 078)] from PCOS group were significantly lower than those of the non-PCOS group [85.85% (625/728), P=0.038; 53.30% (388/728), P=0.042]. However, there were no significant differences between the two groups in the cumulative clinical pregnancy rate and the cumulative live birth rate (all P>0.05). Raman was capable of distinguishing PCOS from non-PCOS FFs. The characteristic Raman displacement difference between the two groups is mainly concentrated in the 600-1 000 cm -1, as well as 1 168 cm -1, 1 344 cm -1, 1 440 cm -1, 1 504 cm -1, 1 632 cm -1 and 1 664 cm -1. The Raman characteristic shift database showed that the different metabolites of the two sets of FFs samples were mainly concentrated in protein, lipids, free nucleic acis, glucose, cholesterol, carotenoids, and amino acids. Mouse oocyte IVM results showed that the PCOS-FF group had a lower MⅡ rate [49.04% (77/157)] than that of non-PCOS group [65.07% (95/146), P=0.005). IVF results showed the PCOS-FF group had a significantly lower cleavage rate [46.75% (36/77)] than that of non-PCOS group [63.16% (60/95), P=0.031], but there was no significant difference in the blastocyst rate between the two groups ( P>0.05). Conclusion:Differential metabolites detected by Raman spectrum in the PCOS FFs may cause defected maturation of the oocytes, leading to infertility, and Raman spectroscopy is an effective approach towards PCOS diagnosis and the identification of metabolomics differences.

Objective:To explore the different metabolites in the follicular fluids (FFs) of polycystic ovary syndrome (PCOS) patients and non-PCOS patients and their effects on the maturation of mouse oocytes and the developmental potential of in vitro fertilization (IVF) embryos. Methods:The clinical data were collected for the retrospective cohort study. Animal experiments were conducted in a randomized controlled trial. This study included PCOS ( n=71) and non-PCOS ( n=70) patients who underwent the first IVF or intracytoplasmic sperm injection (ICSI) cycle in Shanghai JIAI Genetics & IVF institute from June 2019 to June 2020. The patients' FFs were collected and the clinical data from these patients were analyzed. Raman spectroscopy analysis technology was used to detect differences in the metabolic spectra of FFs between the two groups. Mouse GV phase oocytes were placed in FFs from PCOS patients and non-PCOS patients for in vitro maturation (IVM) culture respectively, then the matured mouse oocytes were collected for IVF. The effects of differential metabolites in FFs on mouse oocyte maturation and embryonic development were further explored. The Raman spectrum was also applied to identify the differences of the IVM spent culture media. Results:The MⅡ rate [82.19% (886/1 078)] and day 3 available embryo rate [51.30% (553/1 078)] from PCOS group were significantly lower than those of the non-PCOS group [85.85% (625/728), P=0.038; 53.30% (388/728), P=0.042]. However, there were no significant differences between the two groups in the cumulative clinical pregnancy rate and the cumulative live birth rate (all P>0.05). Raman was capable of distinguishing PCOS from non-PCOS FFs. The characteristic Raman displacement difference between the two groups is mainly concentrated in the 600-1 000 cm -1, as well as 1 168 cm -1, 1 344 cm -1, 1 440 cm -1, 1 504 cm -1, 1 632 cm -1 and 1 664 cm -1. The Raman characteristic shift database showed that the different metabolites of the two sets of FFs samples were mainly concentrated in protein, lipids, free nucleic acis, glucose, cholesterol, carotenoids, and amino acids. Mouse oocyte IVM results showed that the PCOS-FF group had a lower MⅡ rate [49.04% (77/157)] than that of non-PCOS group [65.07% (95/146), P=0.005). IVF results showed the PCOS-FF group had a significantly lower cleavage rate [46.75% (36/77)] than that of non-PCOS group [63.16% (60/95), P=0.031], but there was no significant difference in the blastocyst rate between the two groups ( P>0.05). Conclusion:Differential metabolites detected by Raman spectrum in the PCOS FFs may cause defected maturation of the oocytes, leading to infertility, and Raman spectroscopy is an effective approach towards PCOS diagnosis and the identification of metabolomics differences.

Objective: To investigate nutritional quality of school lunch in some primary schools and middle schools in the Pearl River Delta, and to provide the scientific basis for improving the nutritional quality of students lunch and formulating scientific and effective interventions. Methods: Five-day lunch meal survey by chemical analysis were conducted, and students lunch at school were recorded by meal review in three age groups from 8 primary and middle schools in the Pear River Delat area. The energy and nutrient content were obtained and compared with the reference intake of dietary nutrients of student. Results: The average protein intake at lunch of all age groups had reached the recommended standard (80%-95%), the energy supply ratio of carbohydrate in the range of 38.3%-42.3%, the energy supply ratio of fat in 63% school meal exceeded the recommended standard. Vitamin A, vitamin B 1, vitamin B 2, calcium, iron and other nutrients were seriously inadequate; while sodium intake far exceeded the recommended standard. Conclusion The main nutrients of school lunch of primary and middle school in Pearl River Delta can basically meet the growth and development needs, but there are still some deficiency and unbalanced diet nutrient content which are lower than the recommended intake. It is recommended to strengthen nutrition education of catering enterprises and school to improve the scientific combination of diets.

Objective:To investigate the clinicopathological characteristics, immunophenotype, molecular genetic characteristics and prognosis of the metaplastic thymoma (MT).Methods:The clinicopathological and follow-up data of five MT cases were collected at Fujian Provincial Hospital from 2008 to 2019. Immunohistochemical staining and MAML2 gene detection were performed, and the relevant literature was reviewed.Results:There were 2 males and 3 females, aged 36-64 years (mean age 52 years). The tumors ranged 3.2-7.3 cm in the greatest diameter (average 5.1 cm).Microscopically, the tumor showed a biphasic pattern with epithelial cells merging gradually with the spindle cell component. The two areas transited to each other or had obvious boundary. Both components showed mild atypia. No mitosis was observed in either area, and a small number of lymphocytes were observed in the stroma. Immunohistochemical staining showed that epithelioid cells were positive for CKpan, p63 and E-cadherin. Spindle cells were positive for vimentin and EMA, while the Ki-67 index was less than 5%, and lymphocytes were negative for TdT. MAML2 gene apart signal was detected in two of the cases (2/4) that were tested by FISH.Conclusions:MT is a low-grade malignant epithelioid thymic tumor. Its diagnosis and differential diagnosis are dependent on the morphological characteristics, immunohistochemical staining and MAML2 gene detection. The primary treatment option is surgical resection, with an overall good prognosis.