Recent advances in lamellar liquid crystal emulsification methods encapsulating natural active substances for functional cosmetics / 药学学报

Due to the high similarity with the lipid layer between human skin keratinocytes, functional cosmetics with layered liquid crystal structure prepared by liquid crystal emulsification technology encapsulating natural active substances have become a hot research topic in recent years. This type of functional cosmetic often has a fresh and natural skin feel, excellent skin barrier repair function and efficient moisturizing effect, etc., showing great potential in cosmetic application. However, the present research on the application of liquid crystal emulsification technology to functional cosmetics is still in the initial stage, and there are fewer relevant reports with reference values. Based on the mentioned above, this review provides a comprehensive summary of functional cosmetics with layered liquid crystal structures prepared by liquid crystal emulsification technology from the following aspects: the structure of human skin, the composition of lamellar liquid crystal, the advantages of liquid crystal emulsification technology containing natural active substances used in the field of functional cosmetics, the preparation process, main components, influencing factors during the preparation and the market functional cosmetics with lamellar liquid crystal structure. Finally, the prospect of the application of liquid crystal emulsification technology in functional cosmetics is presented, to provide useful references for those engaged in the research of liquid crystal emulsification technology-related functional cosmetics.

Effects of Lactobacillus Rhamnosus GG on Activated Microglia and Tau Phosphorylation in the Hippocampus of Aged Mice Induced by Anesthesia and Surgery / 中山大学学报(医学科学版)

ObjectiveTo investigate the effects of Lactobacillus rhamnosus GG （LGG）on microglia and Tau phosphorylation in the hippocampus of aged mice induced by anesthesia and surgery. MethodsA total of thirty 18-month-old C57BL/6J mice were randomly divided into three groups： control group， anesthesia surgery group， and anesthesia surgery + LGG group （10 mice/group）. The aged mice were oral administered by NS or LGG 109 CFU 150 μL once a day for 20 days. Then anesthesia surgery group and anesthesia surgery +LGG group received anesthesia with isoflurane and exploratory laparotomy. The activation status of microglia in the hippocampus was detected by immunofluorescence staining 12 hours after surgery. IL-6 concentration changes was detected by ELISA. The expression changes of Tau protein phosphorylation site （Tau-pS202/pT205） and total Tau protein was detected by western blot. ResultsThe microglia in the hippocampus of the control group were in a resting state， and the concentration of inflammatory factor IL-6 was （82.08 ± 12.07） pg/mL in control group. Compared to the control group， the anesthesia surgery group showed microglial cell Microglia were activated， the concentration of inflammatory factors IL-6 increased significantly to （123.7±5.72） pg/mL （P=0.000）， and the expression of phosphorylated Tau-pS202/pT205 increased the hippocampus （P=0.002）. Compared to the anesthesia surgery group， the activated microglia were inhibited， the concentration of IL-6 decreased to （96.68±9.59） pg/mL （P=0.008）， and the expression of phosphorylated Tau-pS202/pT205 reduced significantly in the AS+LGG group （P=0.002）. While there were no significant changes in total Tau protein among 3 groups. ConclusionPreoperative administration of probiotic LGG can alleviate the activation of microglia， increased secretion of inflammatory factors， and increased Tau protein phosphorylation levels in the hippocampus of elderly mice caused by anesthesia surgery.

Study on the correlation between dietary inflammatory index and reflux esophagitis / 中华消化杂志

Objective:To evaluate the correlation between inflammatory diet and reflux esophagitis (RE) with the dietary inflammatory index (DII), and to provide scientific evidence for the prevention and treatment of RE at the level of dietary guidance.Methods:From December 2021 to September 2022, 145 RE patients (RE group) who visited the First Affiliated Hospital of Xinjiang Medical University were recruited. During the same period, 145 subjects who underwent check-ups at the First Affiliated Hospital of Xinjiang Medical University were selected as the healthy control group, and age and gender were matched according to the ratio of 1 to 1. The baseline data of the 2 groups, including body mass index, the history of smoking and drinking, poor dietary habits, and physical activity intensity were collected. Dietary intake of the patients was assessed by a semi-quantitative food frequency questionnaire, and the overall DII was calculated to evaluate the potential anti-inflammatory or pro-inflammatory effects of diet. According to the tertiles of the DII of the healthy control group (33.3% and 66.7% as the cut-off), dietary inflammatory potential was divided into low (<-0.06), moderate (-0.06 to 1.11) and high pro-inflammatory potential diet (>1.11). Logistic regression model was performed to analyze the correlation between DII and RE risk. Linear trend test was used to compare the overall change trend of RE risk OR value along with the increase of DII. Independent sample t test, Mann-Whitney U test and chi-square test were used for statistical analysis. Results:The body mass index of RE group was higher than that of healthy control group( (24.11±2.57) kg/m 2 vs. (23.38 ±2.60) kg/m 2), and the difference was statistically significant ( t=-2.41, P=0.017). The proportions of smoking, drinking, over-eating, and eating within 3 h before bedtime of RE group was higher than those of the healthy control group (42.8%, 62/145 vs. 31.0%, 45/145; 31.0%, 45/145 vs. 16.6%, 24/145; 33.1%, 48/145 vs. 17.9%, 26/145; 52.4%, 76/145 vs. 13.1%, 19/145), and the differences were statistically significant ( χ2=4.28, 8.39, 8.78 and 50.86, P=0.039, 0.004, 0.003 and<0.001). While the proportions of night snacking and moderate to severe physical activity of RE group were lower than those of the healthy control group (14.5%, 21/145 vs. 24.1%, 35/145; 22.8%, 33/145 vs.37.2%, 54/145), and the differences were statistically significant ( χ2=4.34 and 7.24, P=0.037 and 0.007). The DII of RE group was higher than that of the healthy control group (1.05 (0.03, 1.62) vs. 0.34(-0.61, 1.35)), and the difference was statistically significant ( Z=8 661.50, P=0.010). Compared with the low pro-inflammatory potential diet, high pro-inflammatory potential diet had a 1.30-fold increased the risk of RE ( OR=2.30, 95% confidence interval (95% CI) 1.29 to 4.09, P=0.005). After adjusting for total energy intake, age, gender, ethnicity, body mass index, education level, and physical activity intensity, the high pro-inflammatory potential diet was still positively correlated with the risk of RE ( OR=2.58, 95% CI 1.16 to 5.76, P=0.020). In the continuous DII, the risk of RE increased by 36% for each 1 increase in DII ( OR=1.36, 95% CI 1.11 to 1.68, P=0.003). After adjusting for major confounding factors, the continuous DII was still positively correlated with the risk of RE ( OR=1.41, 95% CI 1.08 to 1.85, P=0.012; OR=1.42, 95% CI 1.05 to 1.93, P=0.023). The results of trend test showed that the higher the DII, the greater the risk of RE ( P=0.039). Conclusions:Pro-inflammatory diet is correlated with the increased risk of RE, and there is a certain dose-response relationship. Reasonable reduction of the intake of pro-inflammatory food may be beneficial to reduce the risk of RE.

Analysis of 141 cases clinically misdiagnosed as melanoma / 中华皮肤科杂志

Objective:To analyze 141 cases clinically misdiagnosed as melanoma, and to improve the understanding and diagnosis of diseases.Methods:Totally, 141 cases preliminarily diagnosed as melanoma, which was finally excluded according to histopathological examination results, were collected from the pathological database of Department of Dermatology, Xijing Hospital, The Fourth Military Medical University from November 2001 to September 2019, and their clinical and histopathological data were analyzed retrospectively.Results:Among the 141 cases clinically misdiagnosed as melanoma, 64 were males and 77 were females. Their median age at the time of misdiagnosis was 51 years, and the average disease duration was 103.4 months. The patients mainly presented with patches and papules, most of which were black in color. Based on histopathological manifestations, 35 patients were diagnosed with pigmented nevi, 29 with basal cell carcinoma, 15 with seborrheic keratosis, 7 with Bowen′s disease, 6 with nail melanin spots, 5 with epidermal cysts, 4 with poroma, 4 with hemorrhage, 4 with dermatofibroma, and 23 with other skin diseases.Conclusions:In clinical practice, some diseases with characteristics of melanoma are liable to be misdiagnosed. It is necessary to grasp their clinical features and actively carry out auxiliary examinations such as dermoscopy and histopathological examinations to confirm the diagnosis and reduce the misdiagnosis rate.

Kaufman Oculocerebrofacial syndrome in a newborn: a case report and literature review / 中国新生儿科杂志

Objective:To study the clinical features, treatment, and prognostic features of Kaufman Oculocerebrofacial syndrome.Methods:The clinical characteristics of a newborn with Kaufman Oculocerebrofacial syndrome admitted to the neonatal unit of Guiyang Maternal and Child Health Care Hospital was reported. Using "Kaufman Oculocerebrofacial syndrome", "Blepharophimosis-ptosis-intellectual disability syndrome" and "UBE3B gene" as keywords, databases including CNKI, VIP database, Wanfang database, Chinese medical journals full-text database, PubMed, Web of Science database and Embase database were searched from the date of establishment to June 2022. The clinical characteristics, treatment and prognosis of Kaufman Oculocerebrofacial syndrome from published literature were summarized.Results:The proband was a boy presenting with small lid fissure, wide eye spacing and feeding difficulties. Whole exome sequencing revealed compound heterozygous mutation in the UBE3B gene, c.1445_1448dupTCAC inherited from his father and c.1703dupA inherited from his mother, both variants had not been reported in the domestic and foreign literature thus far. A total of 34 newborn cases were summarized from 11 case reports, including this report. The main clinical manifestations were developmental delay (35/35), peculiar facial features (35/35), narrow eye slits (35/35), feeding difficulties (33/35), ear abnormalities (33/35), hypotonia (32/35), mouth abnormalities (31/35), breathing difficulties (26/35), small jaws (25/35) and low birth weight (16/35).There is no effective treatment available, and a total of 4 cases followed up to over 16 years old have been reported, all of which have severe mental retardation, language deficiency, along with other serious neurological diseases.Conclusions:when children exhibit symptoms such as narrow eye fissures, feeding difficulties, hypotonia, developmental delays, and peculiar facial features in the neonatal period, whole exome sequence can be used to aid diagnosis and evaluate for Kaufman Oculocerebrofacial syndrome. Families with children of Kaufman Oculocerebrofacial syndrome may undergo prenatal diagnosis based on genetic findings.

Clinical application of jejunal feeding tube for early enteral nutrition after surgical treatment of upper digestive tract malformation in newborns / 中国新生儿科杂志

Objective:To study the clinical application of jejunal feeding tube (J-tube) for early enteral nutrition after surgical treatment of upper digestive tract malformation in newborns.Methods:From January 2019 to December 2021, newborns with upper digestive tract malformation received stage Ⅰ small bowel resection and anastomosis in our hospital were enrolled in this prospective randomized controlled study. According to different types of postoperative nutritional support, these patients were randomly assigned into J-tube group and control group using block randomization method. The J-tube group were given enteral nutrition vis J-tube within 48-72 h after surgery and the control group were given oral feeding after the recovery of gastrointestinal function. Calories and proteins intake, growth indicators, duration of hospital stay and parenteral nutrition, time needed for full oral feeding and complications were compared between the two groups.Results:A total of 24 patients were in J-tube group and 28 in controlled group. No significant differences existed on the general status between the two groups ( P>0.05). The average daily intake of calories and proteins in j-tube group in the first week after surgery were significantly higher than control group [(108.7±8.3) kcal/(kg·d) vs. (97.9±7.0) kcal/(kg·d), (3.4±0.3) g/(kg·d) vs. (3.1±0.2) g/(kg·d)] ( P<0.05). No significant differences existed in the average daily intake of calories and proteins during the second postoperative week between the two groups ( P>0.05). Compared with control group,J-tube group showed increased growth velocity in head circumference and weight over time ( P<0.05), while the trend over time in length growth was not significant ( P>0.05). No significant differences existed in the duration of hospital stay and parenteral nutrition, time needed for full oral feeding and complications between the two groups ( P>0.05). Conclusions:Enteral nutrition via J-tube 48-72 h after surgery is safe and feasible in the postoperative nutritional management of newborns with upper digestive tract malformation. This strategy may promote physical growth after surgery without increasing the incidences of complications.

Efficacy and safety of Omalizumab for the treatment of pediatric allergic asthma: a retrospective multicenter real-world study in China / 中华实用儿科临床杂志

Objective:To assess the clinical effectiveness and safety of Omalizumab for treating pediatric allergic asthma in real world in China.Methods:The clinical data of children aged 6 to 11 years with allergic asthma who received Omalizumab treatment in 17 hospitals in China between July 6, 2018 and September 30, 2020 were retrospectively analyzed.Such information as the demographic characteristics, allergic history, family history, total immunoglobulin E (IgE) levels, specific IgE levels, skin prick test, exhaled nitric oxide (FeNO) levels, eosinophil (EOS) counts, and comorbidities at baseline were collected.Descriptive analysis of the Omalizumab treatment mode was made, and the difference in the first dose, injection frequency and course of treatment between the Omalizumab treatment mode and the mode recommended in the instruction was investigated.Global Evaluation of Treatment Effectiveness (GETE) analysis was made after Omalizumab treatment.The moderate-to-severe asthma exacerbation rate, inhaled corticosteroid (ICS) dose, lung functions were compared before and after Omalizumab treatment.Changes in the Childhood Asthma Control Test (C-ACT) and Pediatric Asthma Quality of Life Questionnaire (PAQLQ) results from baseline to 4, 8, 12, 16, 24, and 52 weeks after Omalizumab treatment were studied.The commodity improvement was assessed.The adverse event (AE) and serious adverse event (SAE) were analyzed for the evaluation of Omalizumab treatment safety.The difference in the annual rate of moderate-to-severe asthma exacerbation and ICS reduction was investigated by using t test.The significance level was set to 0.05.Other parameters were all subject to descriptive analysis.A total of 200 allergic asthma patients were enrolled, including 75.5% ( n=151) males and 24.5% ( n=49) females.The patients aged (8.20±1.81) years. Results:The median total IgE level of the 200 patients was 513.5 (24.4-11 600.0) IU/mL.Their median treatment time with Omalizumab was 112 (1-666) days.Their first dose of Omalizumab was 300 (150-600) mg.Of the 200 cases, 114 cases (57.0%) followed the first Omalizumab dosage recommended in the instruction.After 4-6 months of Omalizumab treatment, 88.5% of the patients enrolled ( n=117) responded to Omalizumab.After 4 weeks of treatment with Omalizumab, asthma was well-controlled, with an increased C-ACT score [from (22.70±3.70) points to (18.90±3.74) points at baseline]. Four-six months after Omalizumab administration, the annual rate of moderate-to-severe asthma exacerbation had a reduction of (2.00±5.68) per patient year( t=4.702 5, P<0.001), the median ICS daily dose was lowered [0 (0-240) μg vs. 160 (50-4 000) μg at baseline] ( P<0.001), the PAQLQ score was improved [(154.90±8.57) points vs. (122.80±27.15) points at baseline], and the forced expiratory volume in one second % predicted (FEV 1%pred) was increased [(92.80±10.50)% vs. (89.70±18.17)% at baseline]. In patients with available evaluations for comorbidities, including allergic rhinitis, atopic dermatitis or eczema, urticaria, allergic conjunctivitis and sinusitis, 92.8%-100.0% showed improved symptoms.A total of 124 AE were reported in 58 (29.0%) of the 200 patients, and the annual incidence was 0(0-15.1) per patient year.In 53 patients who suffered AE, 44 patients (83.0%) and 9 patients (17.0%) reported mild and moderate AE, respectively.No severe AE were observed in patients.The annual incidence of SAE was 0(0-1.9) per patient year.Most common drug-related AE were abdominal pain (2 patients, 1.0%) and fever (2 patients, 1.0%). No patient withdrew Omalizumab due to AE. Conclusions:Omalizumab shows good effectiveness and safety for the treatment of asthma in children.It can reduce the moderate-to-severe asthma exacerbation rate, reduce the ICS dose, improve asthma control levels, and improve lung functions and quality of life of patients.

TDZD-8 alleviates oxaliplatin induced neuropathic pain / 中国药理学通报

Aim To explore the effect of GSK-3β (glycogen synthase kinase-3 beta) inhibitor TDZD-8 on the neuropathic pain induced by side effects of chemotherapeutic drug oxaliplatin and the underlying mechanism. Methods The rat model of oxaliplatin-induced neuropathic pain was established by intraperitoneal injection of oxaliplatin for five consecutive days; the anti-nociception effect was detected by intrathecal injection of TDZD-8. The spontaneous flinches and mechanical pain threshold were used to detect the changes of pain behavior of rats; immunofluorescence and Western blot analysis were used to detect the changes of spinal inflammation and protein levels of rats. Results Intrathecally injection of TDZD-8 significantly alleviated oxaliplatin induced hyperalgesia in rats. TDZD-8 injection obviously inhibited the activation spinal microglia and the inflammatory reaction. TDZD-8 administration significantly inhibited GSK-3β activation. Conclusion TDZD-8 blocks GSK-3β activation, decreases NLRP3 (NOD-, LRR-, and pyrin domain-containing protein 3) inflammasome mediated spinal inflammation and alleviates neuropathic pain.

Paeonol ameliorates hepatic inflammation and oxidative stress injury on murine with alcoholic liver injury by regulating JAK2/STAT3 signaling pathway / 中国药理学通报

Aim To investigate the mechanism of action of paeonol based on JAK2/STAT3 signaling pathway to ameliorate liver inflammation and oxidative stress injury induced by acute alcohol stimulation in mice. Methods C57BL/6 mice were randomly divided into normal group, model group, silibinin group (36. 8 mg • kg

A Case Report of Nevus Trichilemmocysticus / 罕见病研究

This article reports a case of nevus trichilemmocysticus. The patient, a 48-year-old man, presented with multiple filiform keratoses and nodules. Physical examination identified multiple subcutaneous papules and nodules on the scalp, filiform keratoses on the face and bilateral ears, in addition to linear blackheads on trunk and limbs. The patient also exhibited hair loss and hypoplastic tooth. Histopathology revealed trichilemmal cyst. Nevus trichilemmocysticus is a rare organoid nevus. We reviewed literature in order to raise the awareness of the syndrome.

Preparation, physicochemical characterization and cytocompatibility study of self-assembled silk fibroin nanoparticles / 药学学报

This study aimed to prepare silk fibroin nanoparticles (SF-NPs) and assess the physicochemical properties and biocompatibility of the formulation. An optimized and simplified solvent displacement method was employed to obtain SF-NPs. Single-factor prescription screening, such as silk fibroin (SF) solution concentration, the ratio of SF solution to organic solvent, ultrasonication power and time, and different types of organic phases, was used to optimize the formulation. The characterization of the optimal formulation included particle size, polydispersity index (PDI), zeta potential, morphology, and stability. The in vitro cell compatibility of the nanoparticles was evaluated using CCK-8 and Calcein-AM/PI cell viability staining. The results showed that when SF concentration was 20 mg·mL-1, volume ratio of aqueous phase to acetone was 1∶6, ultrasonic power was 80 W and ultrasonic time was 3 min, the best SF-NPs was obtained. The nanoparticles prepared in this study exhibit a near-spherical shape, with a uniform size distribution, having an average size of 144.8 nm, a PDI of 0.174, and a zeta potential of -27.35 mV. Results from in vitro cell experiments demonstrate excellent cell compatibility of SF-NPs, showing the ability to promote cell proliferation. The SF-NPs which were successfully prepared in this study exhibit uniform particle size and excellent biocompatibility.

Effects and mechanism of Morus alba L. (Sangzhi) alkaloids combined with metformin on glucose metabolism in diabetic KKAy mice / 药学学报

To investigate the effects and mechanism of the combination of Morus alba L. (Sangzhi) alkaloids(SZ-A) and metformin (Met) on glucose metabolism in type 2 diabetic mice, KKAy mice were divided into four groups according to the glucose and lipid indexes: control group (control), Morus alba L. (Sangzhi) alkaloids group (SZ-A, 100 mg·kg-1), metformin group (Met, 100 mg·kg-1) and combined administration group (combination, Comb, 100 mg·kg-1 SZ-A + 100 mg·kg-1 Met). All groups were administered by gavage once daily for 7 weeks accompanied with monitoring food intake, water intake, body weight as well as glycemia. Additionally, oral glucose tolerance test (OGTT), insulin tolerance test (ITT) and oral sodium pyruvate tolerance test (OPTT) were performed at week 2, week 5, week 6, respectively. The experiments were approved by the Institutional Animal Care and Use Committee of the Institute of Materia Medica, Chinese Academy of Medical Sciences and Peking Union Medical College (00004332). We determined the weight and lipid content of liver, and then performed the histopathological analysis after sacrificed. Furthermore, Western blot assay was used to detect the protein levels of key molecules of PI3K/PDK1/Akt/GLUT signaling pathway in liver, muscle and adipose tissue. Compared to the SZ-A or Met monotherapy group, SZ-A + Met significantly improved the glucose metabolism disorder, which was showed in reduced food intake, water intake, the level of fasting blood glucose, postprandial blood glucose and glycosylated hemoglobin A1c (HbA1c) of KKAy mice, as well as improved glucose tolerance, enhanced insulin sensitivity and inhibited gluconeogenesis. In addition, SZ-A + Met obviously up-regulated the protein expression levels in PI3K/PDK1/Akt/GLUT signaling pathway in liver, muscle and adipose tissue of KKAy mice. Moreover, the liver lipid accumulation and blood aminotransferase level of KKAy mice in the combined administration group were significantly reduced. Therefore, we concluded that the combination of SZ-A and Met improved glucose metabolism and inhibited the occurrence and development of T2DM via promoting glucose uptake and utilization, suggesting that the combination of SZ-A and Met is a more useful treatment for T2DM.

Pharmacokinetic effects of metformin hydrochloride, food and alcohol on Ramulus Mori (Sangzhi) alkaloids / 药学学报

Ramulus Mori (Sangzhi) alkaloids (SZ-A) are a group of polyhydroxy alkaloids extracted and isolated from the traditional Chinese medicine mulberry twig, which is mainly used for the treatment of type 2 diabetes mellitus (T2DM). In addition to acting as a glycosidase inhibitor in the small intestine after oral administration, SZ-A can also be absorbed into blood and widely distributed to target organs related to diabetes, exerting multiple pharmacological effects. It is important to elucidate the possible pharmacokinetic influences of SZ-A for its clinical rational applications, such as drug interactions, the effects of food and alcohol on the absorption of SZ-A. However, studies in this area are limited. Therefore, the pharmacokinetic interactions between orally administrated SZ-A (50 mg·kg-1) and metformin hydrochloride (Met, 200 mg·kg-1) in Sprague-Dawley (SD) rats were examined. Then, the effect of food (standard feed) on the pharmacokinetics of SZ-A was investigated using fasting administration of SZ-A (50 mg·kg-1) in rats as a control. Finally, we investigated the pharmacokinetic characteristics of SZ-A (50 mg·kg-1) in different concentrations alcohol solutions using aqueous solution of SZ-A administered to rats as a control to evaluate the effect of alcohol on the bioabsorption of SZ-A. The results showed no significant pharmacokinetic interactions between SZ-A and Met after combination treatment. The standard feed had little effect on the pharmacokinetic profile of SZ-A. Alcohol retarded the absorption of SZ-A, resulting in a significant decrease in the Cmax of SZ-A. The decrease was greater at higher alcohol concentrations; however, no significant difference was observed in the AUC0-t. These results support the clinical rational applications of SZ-A. All animal protocols were approved by the Ethics Committee of Kangtai Medical Laboratory Service Hebei Co., Ltd. (Hebei, China) (No. MDL2022-01-17-1).

Complete chloroplast genome sequencing and phylogeny of wild Atractylodes lancea from Yuexi, Anhui province / 中国中药杂志

This study investigated the choroplast genome sequence of wild Atractylodes lancea from Yuexi in Anhui province by high-throughput sequencing, followed by characterization of the genome structure, which laid a foundation for the species identification, analysis of genetic diversity, and resource conservation of A. lancea. To be specific, the total genomic DNA was extracted from the leaves of A. lancea with the improved CTAB method. The chloroplast genome of A. lancea was sequenced by the high-throughput sequencing technology, followed by assembling by metaSPAdes and annotation by CPGAVAS2. Bioiformatics methods were employed for the analysis of simple sequence repeats(SSRs), inverted repeat(IR) border, codon bias, and phylogeny. The results showed that the whole chloroplast genome of A. lancea was 153 178 bp, with an 84 226 bp large single copy(LSC) and a 18 658 bp small single copy(SSC) separated by a pair of IRs(25 147 bp). The genome had the GC content of 37.7% and 124 genes: 87 protein-coding genes, 8 rRNA genes, and 29 tRNA genes. It had 26 287 codons and encoded 20 amino acids. Phylogenetic analysis showed that Atractylodes species clustered into one clade and that A. lancea had close genetic relationship with A. koreana. This study established a method for sequencing the chloroplast genome of A. lancea and enriched the genetic resources of Compositae. The findings are expected to lay a foundation for species identification, analysis of genetic diversity, and resource conservation of A. lancea.

Clinical phenotype and genetic analysis of a fetus with Glutaracidemia type II C / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic variants of a fetus with Glutaracidemia type II C (GA II C).@*METHODS@#Clinical data of a 32-year-old pregnant woman and her fetus with GA II C diagnosed at the Third Affiliated Hospital of Zhengzhou University in December 2021 due to the enlargement and enhanced echo of the kidneys and oligohydramnios fluid at 17 weeks were analyzed retrospectively. Amniotic fluid sample of the fetus and peripheral blood samples of the couple were collected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Copy number variation (CNV) was detected by using low-coverage whole genome sequencing (CNV-seq).@*RESULTS@#At 18 weeks' gestation, ultrasound revealed that the fetus had enlargement and enhanced echo of the kidneys along with no echo of renal parenchymal tubular fissure and oligohydramnios. MRI at 22 weeks' gestation confirmed that both kidneys were enlarged with uniformly increased abnormal T2 signal and decreased DWI signal. The volume of both lungs was small, with slightly higher T2 signal. No CNV was detected in the fetus. WES revealed that the fetus has harbored compound heterozygous variants of the ETFDH gene, namely c.1285+1G＞A and c.343_344delTC, which were inherited from its father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PM2_Supporting+PS3_Supporting; PVS1+PM2_Supporting+PM3).@*CONCLUSION@#The c.1285+1G＞A and c.343_344delTC compound heterozygous variants of the ETFDH gene probably underlay the disease in this fetus. Type II C glutaric acidemia may manifest as bilateral kidney enlargement with enhanced echo and oligohydramnios. Discovery of the c.343_344delTC has enriched the spectrum of ETFDH gene variants.

Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of three children with Menkes disease.@*METHODS@#Three children who had presented at the Children's Medical Center, the Affiliated Hospital of Guangdong Medical University from January 2020 to July 2022 were selected as the study subjects. Clinical data of the children were reviewed. Genomic DNA was extracted from peripheral blood samples of the children, their parents and sister of child 1. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq), and bioinformatic analysis.@*RESULTS@#Child 1 was a 1-year-and-4-month male, and children 2 and 3 were monozygotic twin males aged 1-year-and-10-month. The clinical manifestations of the three children have included developmental delay and seizures. WES showed that child 1 has harbored a c.3294+1G>A variant of the ATP7A gene. Sanger sequencing confirmed that his parents and sister did not carry the same variant, suggesting that it was de novo. Children 2 and 3 had carried a c.77266650_77267178del copy number variation. CNV-seq results showed that their mother has carried the same variant. By searching the HGMD, OMIM and ClinVar databases, the c.3294+1G>A was known to be pathogenic. No carrier frequency has been recorded in the 1000 Genomes, ESP, ExAC and gnomAD databases. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the ATP7A gene c.3294+1G>A variant was predicted to be pathogenic. The c.77266650_77267178del variant has involved exons 8 to 9 of the ATP7A gene. ClinGen online system score for it was 1.8, which was also considered to be pathogenic.@*CONCLUSION@#The c.3294+1G>A and c.77266650_ 77267178del variants of the ATP7A gene probably underlay the Menkes disease in the three children. Above finding has enriched the mutational spectrum of Menkes disease and provided a basis for clinical diagnosis and genetic counseling.

Primary Ovarian Small Cell Carcinoma of Pulmonary Type: Analysis of 6 Cases and Review of 31 Cases in the Literatures / 中国医学科学杂志(英文版)

Objective Primary ovarian small cell carcinoma of pulmonary type (SCCOPT) is a rare ovarian tumor with a poor prognosis. The platinum-based chemotherapy is the standard treatment. However, there is little research on the clinical characteristics of SCCOPT and the potential benefits of other treatments due to its low incidence. The study aims to investigate clinicopathological characteristics and treatment of SCCOPT.Methods We summarized the clinical, imaging, laboratorical and pathological characteristics of 37 SCCOPT cases, in which 6 cases were admitted to the Gansu Provincial Hospital from the year of 2008 to 2022 and 31 cases reported in 17 English and 3 Chinese literatures.Results The median age of the studied SCCOPT cases (n=37) was 56.00 (range, 22-80) years. Almost 80% of them had a stage Ⅲ or Ⅳ tumor. All patients underwent an operation and postoperative chemotherapy. Nevertheless, all cases had a poor prognosis, with a median overall survival time of 12 months. Immunohistochemically, the SCCOPT of all patients showed positive expressions of epithelial markers, such as CD56 and sex-determining region of Y chromosome-related high-mobility-group box 2 (SOX-2), and negative expressions of estrogen receptor, progesterone receptor, vimentin, Leu-7, and somatostatin receptor 2. The tumor of above 80% cases expressed synaptophysin. Only a few cases expressed neuron-specific enolase, chromogranin A, and thyroid transcription factor-1. Conclusions SCCOPT had a poor prognosis. SOX-2 could be a biomarker to be used to diagnose SCCOPT.

Age Estimation Based on DNA Methylation and Its Application Prospects in Forensic Medicine / 法医学杂志

With the improvement of DNA methylation detection techniques, studies on age-related methylation sites have found more age-specific ones across tissues, which improves the sensitivity and accuracy of age estimation. In addition, the establishment of various statistical models also provides a new direction for the age estimation of tissues from different sources. This review summarizes the related studies of age estimation based on DNA methylation from the aspects of detection technology, age-related cytosine phosphate guanine site and model selection in recent years.

Altered microRNA expression profiles of human spermatozoa in normal fertile men of different ages / 亚洲男科学杂志(英文版)

MicroRNAs (miRNAs) are mediators of the aging process. The purpose of this work was to analyze the miRNA expression profiles of spermatozoa from men of different ages with normal fertility. Twenty-seven donors were divided into three groups by age (Group A, n = 8, age: 20-30 years; Group B, n = 10, age: 31-40 years; and Group C, n = 9, age: 41-55 years) for high-throughput sequencing analysis. Samples from 65 individuals (22, 22, and 21 in Groups A, B, and C, respectively) were used for validation by quantitative real-time polymerase chain reaction (qRT-PCR). A total of 2160 miRNAs were detected: 1223 were known, 937 were newly discovered and unnamed, of which 191 were expressed in all donors. A total of 7, 5, and 17 differentially expressed microRNAs (DEMs) were found in Group A vs B, Group B vs C, and Group A vs C comparisons, respectively. Twenty-two miRNAs were statistically correlated with age. Twelve miRNAs were identified as age-associated miRNAs, including hsa-miR-127-3p, mmu-miR-5100_L+2R-1, efu-miR-9226_L-2_1ss22GA, cgr-miR-1260_L+1, hsa-miR-652-3p_R+1, pal-miR-9993a-3p_L+2R-1, hsa-miR-7977_1ss6AG, hsa-miR-106b-3p_R-1, hsa-miR-186-5p, PC-3p-59611_111, hsa-miR-93-3p_R+1, and aeca-mir-8986a-p5_1ss1GA. There were 9165 target genes of age-associated miRNAs. Gene Ontology (GO) analysis of the target genes identified revealed enrichment of protein binding, membrane, cell cycle, and so on. The Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis of age-related miRNAs for target genes revealed 139 enriched pathways, such as signaling pathways regulating stem cell pluripotency, metabolic pathways, and the Hippo signaling pathway. This suggests that miRNAs play a key role in male fertility changes with increasing age and provides new evidence for the study of the mechanism of age-related male fertility decline.

Proteomic Difference Analysis of Whole Blood and Bloodstains / 法医学杂志

OBJECTIVES@#To study the changes of protein levels in peripheral blood after it dried.@*METHODS@#The proteins from whole blood and bloodstains were detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and normalized by the label-free quantification (LFQ) method. The differential proteins were analyzed by using R 4.2.1 software, limma and edgeR package. The analysis of biological function, signaling pathway and subcellular localization for the differential proteins was then performed.@*RESULTS@#A total of 623 and 596 proteins were detected in whole blood and bloodstains, respectively, of which 31 were statistically significant in the quantitative results, including 10 up-regulated and 21 down-regulated proteins in bloodstains.@*CONCLUSIONS@#The protein abundances in whole blood and bloodstains are highly correlated, and the variation of protein abundances may be related to the changes of endogenous and structural proteins in cells. The application of proteomics technology can assist the screening and identification of protein biomarkers, thereby introducing new biomarkers for forensic research.