Objective:To explore the diagnosis and treatment of adolescence-onset methylenetetrahydrofolate reductase (MTHFR) deficiency.Methods:This was a retrospective case study. Nine patients with adolescence-onset MTHFR deficiency were diagnosed at Peking University First Hospital from January 2016 to December 2022, and followed up for more than 1 year. Their general information, clinical manifestations, laboratory tests, cranial images, MTHFR gene variants, diagnosis, treatment, and outcome were analyzed retrospectively.Results:The 9 patients came from 8 families. They had symptoms at age of 8.0 years to 17.0 years and diagnosed at 9.0 years to 17.5 years. Eight were male and 1 was female. Two patients were brothers, the elder brother developed abnormal gait at 17.0 years; and the younger brother was then diagnosed at 15.0 years of age and treated at the asymptomatic stage, who was 18.0 years old with normal condition during this study. The main manifestations of the 8 symptomatic patients included progressive dyskinesia and spastic paralysis of the lower limbs, with or without intellectual decline, cognitive impairment and behavioral abnormalities. Totally, 15 variants of MTHFR gene were identified in the 9 patients, including 8 novel variants. Five patients had brain image abnormalities. Increased plasma total homocysteine level (65-221 μmol/L) was found in all patients, and decreased to 20-70 μmol/L after treatment with betaine and calcium folinate. Besides, the 8 symptomatic patients had their behavior and cognitive problems significantly improved, with a legacy of lower limb motor disorders.Conclusions:Late-onset MTHFR deficiency can occur in adolescence. The diagnosis is usually delayed because of non-specific clinical symptoms. The test of blood total homocysteine could be used as a selective screening test. Eight novel varients of MTHFR gene were identified. Timely treatment can improve clinical condition significantly, and pre-symptomatic treatment may prevent brain damage.

Objective:To investigate the clinical features and outcomes of adolescence-onset methylmalonic acidemia (MMA) and explore preventive strategies.Methods:This was a retrospective case analysis of the phenotypes, genotypes and prognoses of adolescence-onset MMA patients. There were 55 patients diagnosed in Peking University First Hospital from January 2002 to June 2023, the data of symptoms, signs, laboratory results, gene variations, and outcomes was collected. The follow-ups were done through WeChat, telephone, or clinic visits every 3 to 6 months.Results:Among the 55 patients, 31 were males and 24 were females. The age of onset was 12 years old (range 10-18 years old). They visited clinics at Tanner stages 2 to 5 with typical secondary sexual characteristics. Nine cases (16%) were trigged by infection and 5 cases (9%) were triggered by insidious exercises. The period from onset to diagnosis was between 2 months and 6 years. Forty-five cases (82%) had neuropsychiatric symptoms as the main symptoms, followed by cardiovascular symptoms in 12 cases (22%), kidney damage in 7 cases (13%), and eye disease in 12 cases (22%). Fifty-four cases (98%) had the biochemical characteristics of methylmalonic acidemia combined with homocysteinemia, and 1 case (2%) had the isolated methylmalonic acidemia. Genetic diagnosis was obtained in 54 cases, with 20 variants identified in MMACHC gene and 2 in MMUT gene. In 53 children with MMACHC gene mutation,1 case had dual gene variants of PRDX1 and MMACHC, with 105 alleles. The top 5 frequent variants in MMACHC were c.482G>A in 39 alleles (37%), c.609G>A in 17 alleles (16%), c.658_660delAAG in 11 alleles (10%), c.80A>G in 10 alleles (10%), c.567dupT and c.394C>T both are 4 alleles (4%). All patients recovered using cobalamin, L-carnitine, betaine, and symptomatic therapy, and 54 patients (98%) returned to school or work.Conclusions:Patients with adolescence-onset MMA may triggered by fatigue or infection. The diagnosis is often delayed due to non-specific symptoms. Metabolic and genetic tests are crucial for a definite diagnosis. Treatment with cobalamin, L-carnitine, and betaine can effectively reverse the prognosis of MMA in adolescence-onset patients.

Abstract: Objective To investigate the willingness to receiving multitarget stool DNA (MT-sDNA) testing and factors affecting the payment among individuals receiving colonoscopy screening, so as to provide the evidence for the formulation and health economic evaluation of colorectal cancer screening strategies. Methods: Individuals at ages of 40 to 75 years that received colonoscopy screening in The Affiliated Hospital of Ningbo University Medical School from August 2021 to March 2022 were sampled. Participants' demographics, living behaviors, family history, willingness to receive MT-sDNA testing and willingness to pay for MT-sDNA testing were collected using questionnaire surveys, and factors affecting the willingness to receive and pay for MT-sDNA testing were analyzed using a multivariable logistic regression model. Results : A total of 546 respondents were enrolled, with a mean age of (56.25±8.66) years and including 282 men (51.65%). There were 504 respondents that were willing to receiving MT-sDNA testing (92.31%) and 480 that were willing to pay for the MT-sDNA testing (88.24%). Multivariable logistic regression analysis showed that a family history of colorectal cancer in first-degree relatives (OR=0.246, 95%CI: 0.068-0.888), history of hemorrhoids (OR=0.300, 95%CI: 0.109-0.826) resulted in low willingness to receive MT-sDNA testing, and recognizing the reliability of MT-sDNA testing (OR=5.749, 95%CI: 1.480-22.323), considering no difficulty in sampling for MT-sDNA testing (OR=32.042, 95%CI: 6.666-154.021) and considering a difficulty in sampling for MT-sDNA testing (OR=20.278, 95%CI: 4.405-93.354) resulted in high willingness to receive MT-sDNA testing, while recognizing the reliability of MT-sDNA testing (OR=5.003, 95%CI: 1.761-14.216), concern about the reliability of MT-sDNA testing (OR=4.166, 95%CI: 1.285-13.501), considering no difficulty in sampling for MT-sDNA testing (OR=6.558, 95%CI: 2.105-20.428) and considering a difficulty in sampling for MT-sDNA testing (OR=5.820, 95%CI: 1.810-18.720) resulted in high willingness to pay for the MT-sDNA testing among individuals receiving colonoscopy screening. Conclusion A family history of colorectal cancer in first-degree relatives, history of hemorrhoids and awareness of MT-sDNA testing are factors affecting the willingness to receive and pay for the MT-sDNA testing among individuals receiving colonoscopy screening.

Objective:To assess the clinical outcome of the novel computer assisted reduction malarplasty using angled double L-shaped osteotomies.Methods:Retrospective analysis of the 35 female patients who received reduction malarplasty surgery during June 2014 to April 2019 was conducted. Patients were divided into the conventional surgery group (9 cases) and the computer assisted surgery group (26 cases) based on their personal will. For the conventional surgery group, the zygomatic arch was repositioned inwardly after L-shaped osteotomy, and was rigidly fixed with miniplates and screws. The computer assisted reduction malarplasty was as follows: computer assisted angled double L-shaped osteotomies with surgical guide was performed intraorally, and the pre-bent titanium was used to setback the resected zygoma bone, which was then fixed with titanium miniplates and screws. Operation time, patients’ satisfaction (3-month follow-up) and postoperative complications (asymmetry and bone nonunion) were recorded and assessed. CT scans were performed to compare the preoperative design and 3-month postoperative follow-up for the computer assisted patient group. For statistical analysis, independent sample t test was used to analyze operation time of the 2 groups and chi-square test was used to analyze the data of patients’ satisfaction and asymmetry occurrence. P<0.05 was considered as statistically significant. Results:The mean operation time was (85.1 ± 17.8) min during computer assisted surgery versus (62.2±11.7) min during conventional surgery. The difference between the two groups was statistically significant ( t=3.53, P=0.020). Neither group showed noticeable resected bone shifting or soft tissue drooping. One patient in the conventional surgery group had bone nonunion on the right zygoma and partial absorption of the left zygomatic bone. The incidence of asymmetry in the computer-assisted group was 3.8% (1/26, surgical correction was not required), and 33.3% in the conventional surgery group (3/9, one patient required surgical correction). There was a statistically significant difference between the two groups ( χ2=6.179, P=0.046). Patients’ satisfaction in the computer-assisted group was 100% (26/26), and 78% (7/9) in the conventional surgery group ( χ2=7.929, P=0.019). Comparisons between the postoperative CT and preoperative simulation CT images showed that the position deviation of the resected bones was (0.21 ± 0.19) mm. Conclusions:In the present study, improved precision of zygomatic bone resection and bone setback was achieved in reduction malarplasty by using the angled double L-shaped osteotomies with computer assistance. Moreover, complication occurrences (asymmetry, bone nonunion etc.) were significantly decreased. Also, patients’ expectation was better achieved with this method.

Objective:To assess the clinical outcome of the novel computer assisted reduction malarplasty using angled double L-shaped osteotomies.Methods:Retrospective analysis of the 35 female patients who received reduction malarplasty surgery during June 2014 to April 2019 was conducted. Patients were divided into the conventional surgery group (9 cases) and the computer assisted surgery group (26 cases) based on their personal will. For the conventional surgery group, the zygomatic arch was repositioned inwardly after L-shaped osteotomy, and was rigidly fixed with miniplates and screws. The computer assisted reduction malarplasty was as follows: computer assisted angled double L-shaped osteotomies with surgical guide was performed intraorally, and the pre-bent titanium was used to setback the resected zygoma bone, which was then fixed with titanium miniplates and screws. Operation time, patients’ satisfaction (3-month follow-up) and postoperative complications (asymmetry and bone nonunion) were recorded and assessed. CT scans were performed to compare the preoperative design and 3-month postoperative follow-up for the computer assisted patient group. For statistical analysis, independent sample t test was used to analyze operation time of the 2 groups and chi-square test was used to analyze the data of patients’ satisfaction and asymmetry occurrence. P<0.05 was considered as statistically significant. Results:The mean operation time was (85.1 ± 17.8) min during computer assisted surgery versus (62.2±11.7) min during conventional surgery. The difference between the two groups was statistically significant ( t=3.53, P=0.020). Neither group showed noticeable resected bone shifting or soft tissue drooping. One patient in the conventional surgery group had bone nonunion on the right zygoma and partial absorption of the left zygomatic bone. The incidence of asymmetry in the computer-assisted group was 3.8% (1/26, surgical correction was not required), and 33.3% in the conventional surgery group (3/9, one patient required surgical correction). There was a statistically significant difference between the two groups ( χ2=6.179, P=0.046). Patients’ satisfaction in the computer-assisted group was 100% (26/26), and 78% (7/9) in the conventional surgery group ( χ2=7.929, P=0.019). Comparisons between the postoperative CT and preoperative simulation CT images showed that the position deviation of the resected bones was (0.21 ± 0.19) mm. Conclusions:In the present study, improved precision of zygomatic bone resection and bone setback was achieved in reduction malarplasty by using the angled double L-shaped osteotomies with computer assistance. Moreover, complication occurrences (asymmetry, bone nonunion etc.) were significantly decreased. Also, patients’ expectation was better achieved with this method.

Objective:To analyze the components of volatile oil in artemisiae argyi folium from different habitats to provide refer-ence for the quality evaluation in artemisiae argyi folium from different areas. Methods:The volatile oil of artemisiae argyi folium was extracted by steam distillation,and the components of volatile oil were analyzed and identified by GC-MS. The relative percentage of each component of volatile oil in artemisiae argyi folium from different habitats was calculated by area normalization method. The com-ponent contents of volatile oil in artemisiae argyi folium produced in Qichun and some other areas were analyzed by stechiometry. Re-sults:A total of 155 components were identified,mainly including compounds of ketones,olefins and alcohols,and the volatile compo-nents of artemisiae argyi folium from different areas were different. The quality of artemisiae argyi folium produced in Qichun was the best. Conclusion:The quality of volatile oil in artemisiae argyi folium produced in Qichun Hubei is better than that produced in other areas. The components of volatile oil in artemisiae argyi folium in the same habitat are also different. The different varieties of artemisi-ae argyi folium need to be further distinguished.

Objective: To analyze the composition and the content of volatile components in Dipsaci Radix and its wine broiled products. Methods: Headspace solid phase microextraction (HS-SPME) combined with gas chromatography-mass spectrometry ( GC-MS) was used to analyze the volatile components in Dipsaci Radix and its wine broiled products. The area normalization method was used to calculate the relative content. Results: Totally 31 ingredients were identified, which mainly included phenols, olefins, alcohols and aldehydes. Totally 25 peaks were detected out from the volatile components in Dipsaci Radix, and among them, 22 components were identified, which accounted for 94. 74% of the total volatile components. The content of 5-allylguaiacol was the highest, which accounted for 28. 37% of the total volatile components. Totally 23 peaks were detected out from the volatile components in wine-pro-cessed Dipsaci Radix, and among them, 17 ingredients were identified, which accounted for 85. 92% of the total volatile components. The content of nonanal was the highest, which accounted for 9. 66% of the total volatile components. Conclusion: The composition and the content of volatile components in Dipsaci Radix and its wine broiled products are different. The experiment provides scientific reference for the further research and development of the volatile components in Dipsaci Radix and its wine broiled products.

Objective: To establish an HPLC fingerprint of Caryophylli flos. to provide reference for the overall quality evaluation of the herb. Methods: The fingerprint of Caryophylli flos. was established by HPLC, and eugenol was used as the reference peak for the exploration of HPLC conditions. The fingerprint of Caryophylli flos. was established with acetonitrile-0. 2% phosphoric acid as the mobile phase with gradient elution. Results: A total of 17 characteristic common peaks were obtained by HPLC analysis, and among them, five common constituents including eugenol, ferulic acid, quercetin, kaempferol and isorhamnetin were calibrated. The similari-ties of chromatographic fingerprint of Caryophylli flos. from 10 different origins were above 0. 900, which was in line with the basic re-quirement of fingerprint similarity evaluation. Conclusion: The study provides experimental basis for improving the quality evaluation system of Caryophylli flos. , and provides reference for a comprehensive quality assessment of Caryophylli flos. .

Objective: To analyze and compare the volatile components in Smilax glabra Robx. and its adulterant Smilax china L. . Methods: The volatile components in Smilax glabra Robx. and Smilax china L. were analyzed by head space solid phase micro-extraction (HS-SPME) combined with gas chromatography-mass spectrometry ( GC-MS). The relative percentage of each component was calculated by area normalization method. Results: Totally 24 components were detected out from Smilax glabra Robx. , and among them, 20 components were identified, which accounted for 97. 04% of the volatile components. Totally 21 components were detected out from Smilax china L. , and among them, 15 components were identified, which accounted for 77. 76% of the volatile components. Conclusion: The composition and content of volatile components in Smilax glabra Robx. and its adulterant Smilax china L. are differ-ent. The method can provide scientific basis for the identification of Smilax glabra Robx. and its adulterants.

OBJECTIVE:To compare the differences in the volatile ingredients of raw products and wine processed products of Ligusticum chuanxiong,and provide reference for its pharmacological activity research and clinical application. METHODS:Head-space solid phase microextraction-GC/MS was used to analyze the volatile components of L. chuanxiong before and after processed with wine. And area normalization method was adopted to calculate the relative percentage content of each component. RESULTS:28 components were isolated from the raw products and 24 components were identified,accounting for 99.70% of total volatile components. 2-methyl-2,3-dihydro-1H-inden-2-ol(20.06%),α-selinene(17.97%)and 4-ethyl-3-nonen-5-yne(9.24%)were high-er in contents. 21 components were isolated from the wine processed products and 18 components were identified,accounting for 89.74% of total volatile components. 4-ethyl-nonen-5-yne (12.97%) was the highest in content,followed by 4-carene (11.74%) and α-selinene(10.79%). Compared with raw products,the contents of active components α-pinene and β-elemene were increased. CONCLUSIONS:The volatile components and their relative contents of L. chuanxiong before and after processed with wine show certain differences,and volatile components after wine processed are relatively reduced. However,contents of the components with analgesic effect are increased,and its analgesic effect is superior to raw products.