Objective To establish the HPLC fingerprints of petroleum ether parts from five traditional medicine (Alpinia officinarum Hance, Alpinia galangal ( L.) Wild, Alpinia galanga Will., Alpinia katsumadai Hayata, and Alpinia oxyphylla Miq), and to explore the similarities and differences of chemical composition,as well as the correlation between the genetic relationship and the chemical composition. Methods HPLC method was used to analysis the five traditional medicines. The data were evaluated by using the"similarity evaluation system for chromatographic fingerprint of TCM" software. Results The similarity chemical composition from Alpinia officinarum Hance,Alpinia galangal(L.) Wild,Alpinia galanga Will.,Alpinia katsumadai Hayata,and Alpinia oxyphylla Miq in ethyl acetate were 0.741,0.855,0.610,0.510, 0.680,respectively. Conclusion Though there were differences of fingerprint peak of petroleum ether parts between five the traditional Chinese medicines, similarities were also observed among them.

OBJECTIVE: To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS). METHODS: The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2). CONCLUSION The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
Child ; Family ; Female ; Humans ; Mutation ; RecQ Helicases/genetics* ; Rothmund-Thomson Syndrome/genetics* ; Whole Exome Sequencing

Objective To establish an individual Nomgram model for predicting the risk of coronary heart disease complicated with pulmonary hypertension. Methods From January 2017 to December 2021 , 352 patients with coronary heart disease (CHD) complicated with pulmonary hypertension in our hospital were selected, and 352 patients with coronary heart disease but without pulmonary hypertension were selected as the control group. The clinical baseline data of the two groups were analyzed first, and then logistics multivariate analysis was performed. To explore the risk factors of coronary heart disease complicated with pulmonary hypertension, the Nomgram model was established to predict the risk, and the predictive value of the model was tested by receiver characteristic curve (ROC). Results Logistics multivariate analysis showed that alcoholism, smoking, stroke history, hypertension course, CHD course, PASP, HCT, PaCO₂, D-dimer, NIHSS score and low PaO₂ were all independent risk factors for CHD complicated with pulmonary hypertension. Nomgram model prediction results for patients with coronary heart disease showed that Alcohol abuse, smoking, stroke history, duration of hypertension (5.66 years), duration of coronary heart disease (2.12 years), NIHSS (12.33 points), PASP (75.22mmHg), HCT (33.22%), PaCO₂ (56.11mmHg), D-dimer (255.12μg/L), PaO2 (56.22mmHg) is a risk factor for coronary heart disease complicated with pulmonary hypertension. ROC curve showed that the area under the prediction curve of Nomgram model for coronary heart disease complicated with pulmonary hypertension was 0.675. Conclusion Nomgram model can predict pulmonary hypertension in patients with coronary heart disease to a certain extent.