AIM: To compare the effects of different nucleus chopping methods on the central corneal thickness, corneal endothelial cell(CEC)count and tear inflammatory indicators in patients with hard nucleus cataract.METHODS: Retrospective study. Totally 89 patients(89 eyes)with hard nucleus cataract who treated in our hospital were included from January 2020 to December 2022. According to different intraoperative nucleus chopping methods, the patients were divided into reverse prechop group(46 eyes)and phaco-chop group(43 eyes). The total effective rate of surgery and visual acuity recovery were compared between the two groups. Corneal related indicators(central corneal thickness, CEC count, CEC area), tear inflammatory indicators and tear film function [tear film break-up time(BUT), Chinese Dry Eye Questionnaire(CDEQ), Schirmer Ⅰ test(SⅠt)] were observed before and after surgery in both groups, and the degree of corneal edema was evaluated.RESULTS: The effective phaco time, phaco energy and cumulative complex energy parameters in the phaco-chop group were longer or higher than those in the reverse prechop group(P<0.05). The macular retinal thickness in the reverse prechop group at 7 d and 1 mo after surgery was thinner than that in the phaco-chop group, the central corneal thickness at 3 and 7 d after surgery was also thinner than that in the phaco-chop group, the CEC count at 3 mo after surgery was more than that in the phaco-chop group, the CEC loss rate was lower than that in the phaco-chop group, and the CEC area at 3 mo after surgery was smaller than that in the phaco-chop group(P<0.05). The levels of tear TNF-α and IL-6 at 7 d and 1 mo after surgery in the reverse prechop group were lower than those in the phaco-chop group(P<0.05). The BUT at 1 and 3 mo after surgery was longer in the reverse prechop group than that in the phaco-chop group(P<0.05). The CDEQ score in the reverse prechop group was lower than that in the phaco-chop group at 1 and 3 mo after surgery(P<0.05). The SⅠt at 1 and 3 mo after surgery was higher in the reverse prechop group compared with that in the phaco-chop group(P<0.05). The degree of corneal edema at 1 d after surgery was milder in the reverse prechop group than that in the phaco-chop group(P<0.05). CONCLUSION: Compared with phaco-chop, the application of reverse-chopper prechop combined with phacoemulsification can better reduce the ultrasonic energy in the treatment of hard nuclear cataract, and it is more conducive to reducing the postoperative inflammatory degree, improving the tear film function and relieving the corneal edema degree.

AIM: To investigate the efficacy of small-incision horizontal space nuclear splitting surgery and phacoemulsification combined with regional refractive multifocal intraocular lens(MIOL)implantation in the treatment of hard nuclear cataract.METHODS:A retrospective analysis was performed for 288 patients(288 eyes)with hard nuclear cataract who admitted to our hospital from January 2022 to December 2023, and they were divided into control group(144 eyes treated with phacoemulsification and regional refractive MIOL)and observation group(144 eyes treated with small-incision horizontal space nuclear splitting surgery and regional refractive MIOL)according to different treatment methods. The operation time, pre- and post-operative best corrected visual acuity, astigmatism, central corneal thickness, corneal endothelial density, tear film function, and complications were compared between the two groups.RESULTS:There was no difference in operation time between the two groups(P>0.05). There was no difference in the preoperative and 3 mo postoperative best corrected visual acuity(all P>0.05), and the best corrected visual acuity of the two groups at 3 mo postoperatively was improved compared with the preoperative level(all P<0.05). There were differences in central corneal thickness, corneal endothelial density and astigmatism between the two groups at 1 wk and 3 mo after surgery(all P<0.05). There were differences in breakup time(BUT)and ocular surface disease index(OSDI)scores between the two groups at 1 wk after surgery(all P<0.001), and the incidence of complications in the observation group(4.2%)was significantly lower than that in the control group(18.1%; P<0.001).CONCLUSION:Both surgical methods can effectively treat patients with hard nuclear cataracts, and small-incision horizontal space nuclear splitting surgery combined with regional refractive MIOL implantation has less corneal damage and fewer complications.

Objective To understand the epidemiological characteristics of scrub typhus disease and to provide a scientific basis for the prevention and control of scrub typhus disease. Methods Descriptive epidemiological methods were used to analyze the population and regional distribution of scrub typhus. Seasonal characteristics were analyzed using concentration method and circular distribution method, and incidence trend was analyzed using joinpoint regression model. Results The annual incidence rate of scrub typhus was 0.95/100 000 from 2010 to 2022. The incidence rate of male was 0.77/100 000, lower than that of female 1.12/100 000 (χ²=18.89, P<0.05). The incidence rate of the 60-74 years old group was 3.38/100,000, and the total number of cases in the age group 45-74 years was 416 (74.95%). Occupational distribution was mainly among farmers, with 448 cases (80.72%). The top three regions with the highest number of reported cases (in order: Donghai County, Ganyu District, and Guannan County) reported a total of 416 cases, accounting for 74.95%. Concentration ratio was M=0.9408, and the incidence of scrub typhus disease was strictly seasonal. Circular distribution results showed a^-=-62.3728, S=20.8960. The circular distribution results indicated that the peak day was October 19th, and the peak period was between October 7 to December 19. The average annual percentage change (AAPC) of the incidence rate from 2010 to 2022 was 13.70%, 95% CI (-8.62%~41.48%), and the incidence rate showed an upward trend (t=1.15, P=0.249). Conclusion The incidence of scrub typhus disease is strictly seasonal, and the incidence rate over the years shows an upward trend. It is necessary to strengthen monitoring and take various intervention measures to reduce the risk of scrub typhus disease.

Objective:To explore the genetic basis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency (OTCD) and MECP2 duplication syndrome.Methods:A proband who was admitted to the Neonatal Intensive Care Unit of Gansu Provincial Maternal and Child Health Care Hospital on December 19, 2017 was selected as the study subject. High-throughput sequencing and multiplex ligation-dependent probe amplification (MLPA) were carried out for her pedigree, and short tandem repeat-based linkage analysis and chromosome copy number variation sequencing (CNV-seq) were used for the prenatal diagnosis.Results:The proband, a 3-day-old female, was found to harbor heterozygous deletion of exons 7-9 of the OTC gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PVS1+ PM2_Supporting+ PP4). The proband was diagnosed with OTCD, which was in keeping with her acute encephalopathy and metabolic abnormalities (manifesting as hyperammonemia, decreased blood citrulline, and increased urine orotic acid). Prenatal diagnosis was carried out for the subsequent pregnancy. The fetus did not harbor the exons 7-9 deletion of the OTC gene, but was found to carry a duplication in Xq28 region (which encompassed the whole region of MECP2 duplication syndrome) and was positive for the SRY sequence. The same duplication was also found in the proband and her mother. Considering the possible existence of X-chromosome inactivation, the proband was diagnosed with two X-linked recessive disorders including OTCD and MECP2 duplication syndrome, and the fetus was determined as a male affected with the MECP2 duplication syndrome. Conclusion:Discoveries of the pathogenic variants underlying the OTCD and MECP2 duplication syndrome have enabled clinical intervention, treatment, genetic counseling and prenatal diagnosis for this pedigree.

Objective:To observe the effect of customized orthotic insoles on the gait and balance of hemiplegic stroke survivors.Methods:Sixty stroke survivors with gait abnormalities were randomly divided into a group fitted with ankle foot orthoses (AFO) ( n=30) and a group who received customized orthotic insoles ( n=30). All received conventional rehabilitation training for 4 weeks. Before the fitting, as well as 8 hours and 4 weeks afterward, both groups were evaluated using the Tinetti gait scale (TGS), the plantar pressure balance index, the difference in length between their right and left step, step width, the Timed Up and Go test (TUGT), the Fugl-Meyer lower extremity assessment (FMA-LE), the 6-minute walk test (6MWT), a trunk impairment scale (TIS), the Berg Balance Scale (BBS) and the Barthel Index (BI). Results:At 8 hours after the fitting all of the insole group′s measurements were better than those of the AFO group, on average, but the differences were not statistically significant. After 4 weeks the average TGS, balance index barefoot and wearing the orthosis, step length difference, BBS and BI of the insoles group were significantly better than the AFO group′s averages. The other indicators were not significantly different.Conclusions:Customized orthotic insoles are more effective than an AFO in relieving the biomechanical abnormalities in hemiplegic patients′ feet and ankles, and enhancing their balance and gait.

OBJECTIVE: To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families. METHODS: Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease. RESULTS: In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously. CONCLUSION Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.
Amino Acid Metabolism, Inborn Errors/genetics* ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Oxidoreductases/genetics*

OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene. CONCLUSION The child has comorbid XLI and DMD, which is extremely rare.
Child ; Dystrophin/genetics* ; Exons ; Gene Deletion ; Genetic Testing ; Humans ; Ichthyosis/genetics* ; Muscular Dystrophy, Duchenne/genetics* ; Mutation

Guided by the development of new medical science proposed by Ministry of Education and the "Education and Training Plan for Excellent Doctors 2.0", shifted from treatment-oriented to whole life-health cycle, we have explored curriculum ideological and political education in metabolic-related curriculum chain. Firstly, we constructed a core teaching team and had the training of curriculum ideological and political education. The top-level design was made with the integration of moral education into medical education. Secondly, the syllabus was comprehensively revised, containing the connotation of "morality education". The elements relevant to curriculum ideological and political education hidden behind professional courses were excavated. Finally, the mixed teaching mode of online combining with offline was carried out. Metabolism-related curriculum chain, focused on "metabolism, diabetes, obesity and patient education", formed a progressive link from basic medical science to practice to clinical, strengthening the "prevention, treatment and health care" based "one health" philosophy and giving full play to the implicit curriculum ideological and political education hidden behind professional courses. Our practice shows that the implementation of curriculum ideological and political education in metabolism-related curriculum has been accepted by students, and curriculum ideological and political education has been become part of professional courses. The "gene chimera" mode for curriculum ideological and political education incorporation into professional courses needs to be infiltrated imperceptibly, and the effect will be visualized in the future.

The cholinergic anti-inflammatory pathway (CAP) is a neuro-immunomodulatory pathway,in which acetylcholine (ACh) released by the interaction of vagal nerves with α7 nicotinic acetylcholine receptor (α7nAChR),which prevents the synthesis and release of pro-inflammatory cytokines and ultimately regulates the local or systemic inflammatory response in a feedback manner. It has been shown that there are many possible effective treatments for sepsis, including vagus nerve stimulation by physical therapy, drugs such as acetylcholine receptor agonist and ultrasound therapy.
Acetylcholine ; Humans ; Inflammation ; Neuroimmunomodulation ; Sepsis ; Vagus Nerve Stimulation ; alpha7 Nicotinic Acetylcholine Receptor

OBJECTIVE: To explore the genetic basis for a child with concomitant spinal muscular atrophy (SMA) and Citrin protein deficiency. METHODS: The child was subjected to whole exome sequencing by using target sequence capture high-throughput sequencing. Candidate variants were verified by Sanger sequencing. The SMN genes of the patient were also analyzed through multiplex ligation-dependent probe amplification (MLPA). RESULTS: The patient was found to carry homozygous deletion of exons 7 and 8 of the SMN1 gene, for which his parents were both carriers. The patient also carried compound heterozygous variants c.1737G>A and IVS16ins3kbof the SLA25A13 gene, in addition with compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene, for which his parents were carriers, too. CONCLUSION Variants of the SLC25A13 gene probably underlay the deficiency of Citrin protein, which may lead to neonatal intrahepatic cholestasis (NICCD). The patient also had SMA. The compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene are likely to cause mitochondrial DNA deletion syndrome type 4A, though other types of mitochondrial disease cannot be excluded.