Genomic analyses in African populations identify novel risk loci for cleft palate.

Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.

[Research progress on genus Clinopodium].

The plants of genus Clinopodium are perennial herbs of Labiatae, which are widely distributed in the world and have a promising medicinal value. Modern researches have shown flavonoids, triterpenoid saponins, terpene glycosides, terpenoids, volatile oils and phenylpropanoids are the main compounds in the plants, presenting various pharmacological effects such as hemostasis, anti-bacteria, anti-inflammation, immunoregulation, reducing blood glucose, antioxidation, and anti-tumor effects. The preparations made of those plants are mainly used for treatment of various bleeding diseases in clinical application. In this review, we systematically summarized the research progress on taxonomy, resource distribution, chemical compositions, pharmacological activities, and clinical application of the medicinal plants of genus Clinopodium. This review provides references and scientific basis for further research and development of genus Clinopodium.

Unexpected esophageal diseases appeared in thyroid resections.

OBJECTIVE: In order to avoid the misdiagnosis of thyroid diseases, we need to discuss the clinical features and diagnostic methods of cervical esophageal cancer and Zenker's diverticulum. METHODS: The clinical and laboratory data of seven cases were reviewed retrospectively, and in all cases, esophageal-related diseases were misdiagnosed as thyroid diseases preoperatively. Among them, two cases were cervical esophageal cancer metastasized to thyroids but initially, they were misdiagnosed as thyroid cancer. The other five cases were Zenker's diverticulum, but were originally diagnosed as nodular goiter, and two out of the five cases were found with calcification. They were all detected by ultrasound examination without any clinical feature of esophageal diseases. Previous literatures only reported five cases of thyroid metastasis and three cases of Zenker's diverticulum. RESULTS: In both cases where cervical esophageal cancer metastasized to thyroid, anterior cervical neoplasm biopsy and surgical removal were performed followed by postoperative radiotherapy and chemotherapy. Both patients died from esophageal cancers in 7 and 15 months postoperatively. All five cases of Zenker's diverticulum received excision and repair without any postoperative complication or recurrence in the following 2 to 7 years. CONCLUSIONS: Cervical esophageal cancer and Zenker's diverticulum may be misdiagnosed as thyroid disease. Careful and comprehensive diagnostic tests would be required to avoid misdiagnosis.

The Chinese version of the Ohkuma questionnaire: reliability analysis and diagnostic value.

BACKGROUND: While the Ohkuma questionnaire is a simple, reliable, and easy-to-use tool to assess dysphagia, none of its versions can be used by the Chinese population. OBJECTIVE: The purpose of this study was to evaluate the internal consistency, reliability and clinical validity of a newly made Chinese version of the Ohkuma questionnaire, and to provide some objective basis for its application in screening dysphagia. MATERIALS AND METHODS: From September 21 to June 2022, 96 patients with dysphagia and 89 asymptomatic subjects were recruited from three hospitals in China to form an observation and a control group, respectively. All subjects completed the Ohkuma questionnaire, Eating Assessment Tool-10, and a Video Fluoroscopy Study of Swallowing. RESULTS: The Cronbach's α coefficient measured in the questionnaire was 0.867, indicating acceptable internal reliability. The analysis of variance generated four main factors to be assessed, showing a good aggregation effectiveness of the questionnaire. The AVE square root values of three factors were greater than the maximum absolute value of the correlation coefficients between factors, indicating good differentiation effectiveness. The sensitivity and specificity scores, together with the positive and negative likelihood as well as diagnostic odds ratios indicate a good reactivity of the questionnaire. Lastly, after adjusting for age and sex, the results of the stepwise linear regression analysis showed that there was a significant positive correlation between the Ohkuma questionnaire and the penetration aspiration scale. CONCLUSIONS: The Chinese version of the Ohkuma questionnaire has good reliability and validity, and can be used as a rapid and effective screening tool for dysphagia.

[Investigation on knowledge, attitude and practice (KAP) of college students on foodborne parasitic diseases in Wuhu City].

OBJECTIVE: To understand the status of knowledge, attitude and practice (KAP) on foodborne parasitic diseases and the influencing factors among college students in Wuhu City, so as to provide the evidence for the development of strategies on health education. METHODS: A total of 1 685 college students from five colleges were selected through the randomly stratified cluster sampling method, and then they were investigated by questionnaires to understand their KAP on foodborne parasitic diseases. Chi-square test was performed and regression models were constructed to analyze the influencing factors of knowledge on food-borne parasitic diseases. RESULTS: Among the 1 685 college students surveyed the awareness rates of knowledge about foodborne parasitic diseases and their harms were 33.5% (565 cases) and 31.4% (529 cases). There were statistically significant differences among/between the grades, schools, places of origin, family incomes, whether or not having the male or female friends, whether or not having the medical personnel in the family, whether or not having the insistence on the annual physical examination, whether or not receiving the health education, and whether or not having the history of parasitic diseases (all P < 0.05). The logistic regression analysis showed that the school, receiving the health education, having the insistence on the annual physical examination, and the history of parasitic diseases were the independent influencing factors of the awareness rate of knowledge on foodborne parasitic diseases (all P < 0.01). CONCLUSIONS: The awareness rate, healthy behavior and correct attitude formation about foodborne parasitic diseases are low among the college students in Wuhu City, and therefore, it is necessary to offer the courses related to foodborne parasitic diseases in colleges and universities.

[Knowledge, attitude and practice related to schistosomiasis control among rural residents in Wanjiang River region after a flood].

OBJECTIVE: To investigate the status of knowledge, attitude and behavior of schistosomiasis control of rural residents in Wanjiang River region after a flood, so as to provide the reference for targeted health education. METHODS: The multistage sampling was applied to select the respondents in rural residents in Wanjiang River region, and the self-designed questionnaire was used to investigate the current situation of knowledge, attitude and behavior of schistosomiasis prevention and control of the rural residents. RESULTS: The total awareness rate of knowledge about the prevention and control of schistosomiasis was 47.92%. The age, education, family income, relatives and friends with medical background, and health education significantly influenced the awareness rate (χ2 = 12.76, 89.19, 18.19, 50.83 and 92.60 respectively, all P < 0.05). The accuracy rates of attitude and behavior in schistosomiasis control were 62.89% and 52.37% respectively. CONCLUSIONS: The awareness rate of knowledge about the prevention and control of schistosomiasis, and the accuracy rates of attitude and behavior in schistosomiasis control of the rural residents in Wanjiang River region are all inefficient, and therefore, the targeted health education should be strengthened to decrease the risk of schistosomiasis transmission.

Sequencing and analysis of the complete mitochondrial genome of flat-skulled shrew (Sorex roboratus) from China.

The complete mitogenome sequence of flat-skulled shrew (Sorex roboratus) was determined using long PCR. The genome was 17,153 bp in length and contained 13 protein-coding genes, 2 ribosomal RNA genes, 22 transfer RNA genes, 1 origin of L strand replication and 1 control region. The overall base composition of the heavy strand is A (33.1%), C (24.4%), T (29.4%), and G (13.1%). The base compositions present clearly the A-T skew, which is most obviously in the control region and protein-coding genes. The extended termination-associated sequence domain, the central conserved domain and the conserved sequence block domain are defined in the mitochondrial genome control region of flat-skulled shrew. Mitochondrial genome analyses based on MP, ML, NJ and Bayesian analyses yielded identical phylogenetic trees. The five Sorex species formed a monophyletic group with the high bootstrap value (100%) in all examinations.

Purification and characterization of an isoflavone-conjugates-hydrolyzing beta-glucosidase from endophytic bacterium.

An isoflavone conjugates hydrolyzing beta-glucosidase (ICHG) from endophytic bacterium, Pseudomonas ZD-8 was purified to homogeneity by successive ammonium sulfate precipitation, gel filtration on SephadexG-100, DEAE-sephrose CL-6B and DEAE-Sephacel chromatography. The enzyme was a monomeric protein with an apparent molecular mass of 33 kDa as determined by SDS-PAGE and gel filtration. It was optimally active at pH 6.0 and 40 degrees C and had a specific activity of 1485 U mg of protein(-1) against genistin. The ICHG readily hydrolyzed rho-nitrophenyl-beta-glucoside, rho-nitrophenyl-beta-galactoside, genistin, daidzin, with Km values of 1.64, 1.87, 0.012, 0.014 mM, respectively. The ICHG showed a pronounced specificity for glucose in the 7-position of isoflavone and flavone conjugates and hydrolyzed effectively malonyl isoflavone glucosides as well as isoflavone glucosides with similar kinetics. Glucose and glucono-delta-lactone inhibited the enzyme competitively with Ki values of 84 mM and 23 mM, respectively. The enzyme did not require divalent cations for activity, and its activity was strongly inhibited by Hg2+, Ag+, rho-chloromercuribenzoate, iodoacetic acid, and N-ethylmaleimide while reducing agents such as beta-mercaptoethanol, dithiothreitol, dithioerythritol, glutathione slightly activated the enzyme.