Objective To assess the influence of length of the alanine tract of forkhead box E1 (FOXE1) gene on genetic susceptibility to idiopathic premature ovarian failure (POF). Methods Totally 110 patients with idiopathic POF were recruited between February 2009 and December 2012 at the Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University. Controls (n=110) were individuals with normal menstrual cycles, normal FSH concentrations. The polyalanine tract and flanking sequence of FOXE1 were screened using the multiplex ligation-dependent probe amplification (MLPA) technique and direct sequence technique. Results The most frequent of FOXE1 polyalanine stretch length was 14 residues in both groups. The length of FOXE1 polyalanine reported in this study varied from 12 to 16 alanines, and three variants of FOXE1-polyalanine length, containing 12, 14, or 16 alanine residues, and 5 different genotypes were identified. The most common genotypes were 14/14 homozygote, occurring with the frequency of 81.8% (90/110) in the POF group, while 96.4% (106/110) in control subjects, respectively. The incidence of 14/14 genotypes of FOXE1-polyalanine was significantly lower in patients with POF (χ2=119.730, P=0.001) in comparison to the controls. There were significantly higher frequencies of the 16/16 genotypes in cases with POF [10.0% (11/110) versus 0; χ2=3.403, P=0.001], as compared with the controls. The FOXE1 14 alanine allele was significantly less common in the POF patient group than the controls [84.5% (186/220) versus 98.2% (216/220); χ2=25.923, P=0.001]. The FOXE1 16 alanine allele was significantly more common in the POF patient group than the controls [12.7% (28/220) versus 1.8% (4/220); χ2=19.412, P=0.001]. Conclusions The polymorphism of the polyalanine tract of FOXE1 gene have a certain relevance for the genetic aetiology of idiopathic POF.

Objective To evaluate the diagnostic efficiency of Q?SPECT, CTPA, Q?SPECT/CT, and Q?SPECT/CTPA for pulmonary embolism (PE) in rabbit models. Methods (1) The PE models were constructed by injecting Gelfoam into the femoral vein of New Zealand rabbits ( n=30) . Q?SPECT, CTPA, Q?SPECT/CT and Q?SPECT/CTPA fusion images were obtained by integrated SPECT/CT. (2) All images were interpreted by two experienced nuclear radiologists who were blind to pathologic findings. The locations and numbers of lung lobes with PE were recorded respectively. ( 3) Serial sectioning of the lungs was per?formed and pathologically determined. (4) Se, Sp and Ac of different methods were compared using McNemar test;PPV and NPV were compared usingχ2 test. Kappa test was used to analyze the consistency between two nuclear radiologists. Kappa values<0.40 were interpreted as poor consistency, 0.40 to 0.75 as moderate con?sistency, >0.75 as good consistency. Results (1) Histologically confirmed emboli were present in a total of 26 pulmonary lobes and absent in 79 lobes. (2)The Se, Sp, Ac, PPV, and NPV of 4 imaging methods were:53.8%(14/26), 93.7%(74/79), 83.8%(88/105), 14/19, 86.0%(74/86) for Q?SPECT;73.1%(19/26), 96.2%(76/79), 90.5%(95/105), 86.4%(19/22), 91.6%(76/83) for CTPA;76.9%(20/26), 93.7%(74/79), 89.5%(94/105), 80.0%(20/25), 92.5%(74/80)for Q?SPECT/CT;88.5%(23/26), 91.1%(72/79), 90.5%(95/105), 76.7%(23/30), 96.0%(72/75) for Q?SPECT/CTPA. (3) McNemar test showed Q?SPECT/CT and Q?SPECT/CTPA had higher diagnostic Se for the detection of PE than Q?SPECT (χ2=4.167, 7.111, both P<0.05) , but without any significant difference with CTPA in diagnostic efficiency (χ2=0-2.250, all P>0.05) . Q?SPECT/CT had higher diagnostic Ac than Q?SPECT (χ2=4.167, P<0.05) . There was no significant difference between Q?SPECT/CT and Q?SPECT/CTPA in diagnostic effi?ciency (χ2=0.001-1.333, all P>0.05). (4)Kappa values of 4 imaging methods for radiologist 1 and 2 were 0.902, 0.915, 0.973, and 0.884. Conclusions Q?SPECT/CT imaging provides good Se and Sp. The diag?nostic efficiency of Q?SPECT/CT is better than that of Q?SPECT and is corresponded roughly to the efficien?cy of CTPA, Q?SPECT/CTPA. The diagnosis of two radiologists on Q?SPECT/CT images has the best con?sistency.

Objective To evaluate clinical value of denaturing high performance liquid chromatography (DHPLC) used in detecting transforming growth factor beta receptor 3 (TGFBR-3) exons 11 and 12 polymorphism in women with idiopathic premature ovarian failure (POF).Methods From Feb.2009 to Dec.2011,110 patients with idiopathic POF undergoing treatment at Shenzhen Maternal & Child Health Institute affiliated to Southern Medical University were enrolled as POF group in this study.In the mean time,110 women under 40 years old with normal hormonal level and menstrual cycles as control group.The exons 11 and 12 of TGFBR-3 gene polymorphism were screened by using DHPLC,and results of DNA sequencing was as golden standard.Some related indexes were calculated,such as sensitivity,specificity,false negative value,false positive value,Youden index,positive predictive value,and negative predictive value.At the same time,20％ of the tested specimens were chosen randomly and detected by DHPLC again.The value of Kappa index were calculated by comparing the results between the first and second DHPLC analysis.Results The exon 11 of TGFBR-3 were not identified gene polymorphism and two nucleotide polymorphisms were identified in exon 12.For 2022 T/C polymorphism,the frequencies of CC with 0.9％ (1/110),TC with 22.7％ (25/110),TT with 76.4％ (84/110),Cwith12.3％ (27/220) and T with 87.7％ (193/220) in POF group were significantly different from CC with 0,TC with 9.1％ (10/110)and TT with 90.9％ (100/110),C with 4.5％ (10/220) and T with 95.5％ (210/220) in control group (all P ＜ 0.05).Allelic and genotypic frequencies of 2161-75 C/T were not differed significantly between the two groups (all P ＞ 0.05).As DNA sequencing as golden standard,DHPLC showed that the sensitivity was 100％,specificity was 97.9％,Youden index was 97.9％,positive predictive value was 96.3％,negative predictive value was 100％,and Kappa index was 0.888 (P ＜ 0.05).Conclusion DHPLC analysis is higher validity,reliability and practicability method in detecting TGFBR-3 polymorphism in idiopathic premature ovarian failure.

BACKGROUND: The biological and molecular characteristics of spread through air spaces (STAS), a newly recognized invasive mode of lung cancer, remain controversial. The aim of this study was to investigate the clinicopathological features and molecular characteristics of STAS in patients with pulmonary adenocarcinoma. METHODS: A total of 694 resected invasive non-mucinous lung adenocarcinomas diagnosed by clinicopathology from July 2019 to March 2021 in the First Affiliated Hospital of Guangzhou Medical University were collected, and the relationship between STAS and clinicopathological factors was analyzed. The state of protein expression of anaplastic lymphoma kinase (ALK) was detected by immunohistochemical method. Epidermal growth factor receptor (EGFR) was detected by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). ROS proto-oncogene 1-receptor (ROS1) was detected by reverse transcription-PCR (RT-PCR). RESULTS: A total of 344 STAS positive cases and 350 STAS negative cases were collected. By univariate analysis, STAS positivity was statistically associated with tumor maximum diameter (P<0.001), pleural invasion (P<0.001), lymphovascular invasion (P<0.001), nerve invasion (P=0.013), lymph node metastasis (P<0.001), clinical stage (P<0.001) and histological type (P<0.001). There was a statistical correlation between STAS and ALK protein expression (P=0.001). Multivariate analysis showed that STAS positive was correlated with pleural invasion (P=0.001), vascular invasion (P<0.001), lymph node metastasis (P=0.005)and ALK protein expression (P=0.032). CONCLUSIONS STAS is associated with highly aggressive biological behavior of lung adenocarcinoma, suggesting a poor prognosis.
Humans ; Lung Neoplasms/pathology* ; Lymphatic Metastasis ; Protein-Tyrosine Kinases ; Prognosis ; Neoplasm Staging ; Neoplasm Recurrence, Local/pathology* ; Proto-Oncogene Proteins ; Adenocarcinoma of Lung/pathology* ; Neoplasm Invasiveness ; Retrospective Studies

Objective To investigate the prevalence of Echinococcus infections in small rodents around human residential areas in Yushu City, Qinghai Province in 2023, so as to provide insights into precision echinococcosis control. Methods One or two quadrats, each measuring 50 m × 50 m, were randomly assigned in Shanglaxiu Township and Longbao Township, Yushu City, Qinghai Province on June 2023, respectively, and 300 plate-type mouse traps, each measuring 12.0 cm × 6.5 cm, were assigned in each quadrat. Small rodents were captured during the period between 10 : 00 and 18 : 00 each day for 4 days. Then, all captured small rodents were identified and dissected, and liver specimens with suspected Echinococcus infections were subjected to pathological examinations. The Echinococcus cytochrome c oxidase 1 (cox1) gene was amplified using PCR assay, and the sequence of the amplified product was aligned to that was recorded in the GenBank to characterize the parasite species. In addition, a phylogenetic tree of Echinococcus was generated based on the cox1 gene sequence using the neighbor-joining method. Results A total of 236 small rodents were captured in Shanglaxiu and Longbao townships, Yushu City, including 65 Qinghai voles and 51 plateau pikas in Shanglaxiu Township, and 62 Qinghai voles and 58 plateau pikas in Longbao Township, and there was no significant difference in the constituent ratio of small rodents between the two townships (χ² = 0.294, P > 0.05). Seven plateau pikas and 12 Qinghai voles were suspected to be infected with Echinococcus by dissection, and pathological examinations showed unclear structure of hepatic lobules and disordered hepatocyte arrangement in livers of small rodents suspected of Echinococcus infections. PCR assay identified E. shiquicus DNA in 7 Qinghai voles, which were all captured from Shanglaxiu Township. Phylogenetic analysis showed that the cox1 gene sequence of Echinococcus in small rodents was highly homologous to the E. shiquicus cox1 gene sequence reported previously. Conclusion Plateau pika and Qinghai vole were predominant small rodents around human residential areas in Yushu City, Qinghai Province in 2023, and E. shiquicus infection was detected in Qinghai voles.