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Context: The identification of a patient's constitution in Traditional Chinese Medicine (TCM) allows physicians to understand his or her risk for different diseases, forecast the mechanism of disease development, and direct treatment strategies, such as herbs and/or acupuncture. However, very few large-scale clinical trials have occurred on the relationships of the TCM constitution to lifestyles and diseases. Objective: The study intended investigate the complex and systematic relationship between the TCM constitution and lifestyles to provide solutions for adjusting unbalanced constitutions and maintaining a balanced constitution and health state among people of various lifestyles in Jilin, China. Design: The research team conducted a randomized cross-sectional survey. Setting: The study took place in Jilin Province in China. Participants: Participants were 1755 residents of Jilin Province in China, 794 men and 961 women, between September 2006 and February 2013. Outcome Measures: The research team: (1) collected participants' data using a basic informational and lifestyle questionnaire and the Constitution in Chinese Medicine Questionnaire (CCMQ); (2) used descriptive analysis to illustrate demographic characteristics and the distribution of TCM constitutions; (3) conducted multivariate logistic regressions to explore potential factors influencing the Deficiency, Excess, Gentleness, and Special-diathesis constitutions. Results: Approximately one-half of participants in Jilin, China had an unbalanced constitution and one-third had Deficiency constitutions. Lifestyles and disease histories were significant influencing factors for the unbalanced constitutions. Of the 1755 participants, 757 had the Gentleness constitution (43.1%); the remaining participants had unbalanced constitutions, including 501 with a Deficiency constitution (28.6%), 423 with an Excess constitution (24.1%), and 74 with a Special-Diathesis constitution (4.2%). Regarding the influencing factors, the Deficiency constitutions were significantly related to lifestyle factors-especially gender, age, exercise, and diet: (21) the Qi-deficiency constitution was significantly related to excessive exercise and chronic bronchia; (2) the Yang-deficiency constitution was significantly related to female gender and prefer to hot food; and (3) the Yin-deficiency constitution was significantly related to age, from 46 to ≥66, and the barbecue diet. The Excess constitutions were related to medical histories: (1) the Phlegm-dampness and Blood-stasis constitutions were both significantly related to cardio-cerebrovascular disease and hyperlipidemia; (2) the Dampness-heat constitution was significantly related to liver disease and osteoporosis; (3) the Qi-depression constitution was significantly related to liver disease and chronic bronchia. The Gentleness constitution was significantly related to a greasy diet, and the Special-diathesis constitution was significantly related to allergies. Conclusions: The identification of TCM constitutions would be beneficial to early identification of potential risk factors and could contribute to the creation of more comprehensive guidelines for health organizations. Controlling the factors influencing the TCM constitutions and using health management plans based on the TCM constitution could help people with unbalanced constitutions to adjust their lifestyles and improve their health.
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Background: Uniparental disomy (UPD) is a well-known epigenomic anomaly characterized by the inheritance of both copies of a homologous pair of chromosomes (or part thereof) from the same parent. This genetic condition can have significant implications for prenatal diagnosis and management. Case Presentation: We present a case of a 29-year-old gravida 1 para 0 female who underwent amniocentesis at pregnancy Week 19 due to a high possibility of trisomy chromosome 6, as indicated by noninvasive prenatal testing (NIPT). However, fluorescence in situ hybridization (FISH) and whole-exome sequencing (WES) revealed no abnormalities. Subsequently, chromosomal microarray analysis (CMA) detected uniparental disomy of chromosome 6. Additionally, an ultrasound examination at 28 weeks of gestation revealed intrauterine growth restriction (IUGR). Given these findings, the parents made the decision to terminate the pregnancy. Conclusions: The combination of genetic counseling, FISH, karyotype analysis, WES, CMA, NIPT, and prenatal ultrasound can provide valuable insights for the prenatal diagnosis of UPD. These diagnostic approaches play a crucial role in identifying and managing cases of UPD, primarily when associated with intrauterine growth restrictions.