ObjectiveTo investigate the efficacy of bundle treatment on patients with moderate or severe acute respiratory distress syndrome (ARDS).Methods A multicenter prospective observational study comparing the result of historical treatment strategy and bundle treatment was conducted. According to the new Berlin standard of definition, 73 patients with moderate or severe ARDS due to pulmonary factors, age from 18 to 65 years, admitted to Department of Critical Care Medicine of Taian Central Hospital and Handan Central Hospital were enrolled. Thirty-three patients admitted during September 2012 to May 2014 (prospective observation period) were enrolled as the bundle treatment group. Forty patients with matched disease history admitted from January 2010 to August 2012 were enrolled as the control group. The patients in bundle treatment group received bundle treatment based on the treatment strategy of primary diseases. Bundle treatment included restrictive fluid management, respiratory support, high-dose ambroxol combined with Xuebijing injection, prevention of ventilation associated pneumonia (VAP), individualized sedation plan, installation of continuous blood purification treatment for critical patients. A special team was organized to ensure the successful implementation of all bundle measures. The acute physiology and chronic health evaluationⅡ (APACHEⅡ) score, oxygenation index, duration of mechanical ventilation, the length of intensive care unit (ICU) stay, incidence of VAP, and 28-day mortality 5 days after treatment were compared between two groups.Results There were no significant differences in basic characteristics of patients between the two groups, including gender, age, etiology, severity, etc. (allP> 0.05) with comparability. Compared with the control group, there was no significant difference in APACHEⅡ score 5 days after treatment in bundle treatment group (15.1±2.8 vs. 16.2±3.0,t = 1.618,P = 0.110). Compared with control group, oxygenation index in bundle treatment group was significantly improved [mmHg (1 mmHg = 0.133 kPa): 135.4±34.5 vs. 117.1±34.2,t = -2.273,P = 0.026), the duration of mechanical ventilation was obviously reduced (days: 8.70±2.50 vs. 10.10±2.67,t = 2.308,P = 0.024), incidence of VAP was significantly lower [18.2% (6/33) vs. 32.5% (13/40),χ2 = 5.027,P = 0.025], and 28-day mortality rate was obviously lowered [24.2% (8/33) vs. 37.5% (15/40),χ2 = 4.372,P = 0.037], the length of ICU stay shown no statistical difference (days:10.40±1.94 vs. 11.30±2.34,t = 1.620,P = 0.110).Conclusion Implementation of bundle treatment can significantly shorten the duration of mechanical ventilation, reduce the incidence of VAP, and improve the prognosis of patients.

Objective To evaluate performance of PlateletMapping(R) and RapidTEGTM based on thrombelastography by blocking platelet function with Reopro.Methods PlateletMapping was carried out with whole blood from healthy volunteers mixed with Reopro in vitro in a serial of titration.TEG(R) ACT of heparinized blood was tested with Rapid TEG kits.Linearity, repeatability and validity were calculated for two methods.Results MA activated by Kaolin, AA and ADP decreased with the increase of the concentration of Reopro. Inhibition rates (%)for AA and ADP induced aggregation were repeatable in channels and systems.At the Reopro levels of (1-4) × 10-2 mg, inhibition rate increased statistically( AA:27.99% ± 2.8% vs 63.37% ± 0.0% ,t = 21.9, P ＜ 0.01;ADP: 35.9% ± 0.56% vs 91.42% ± 1.14%,t=58.9,P ＜ 0.01 ) after addition of Reopro.Dose-dependent effect relationship could be seen between TEG(R) ACT and heparin;In Rapid TEG assay, measurement repeatability of K, α angle, MA and TEG(R)ACT were all good ( CV ＜ 5% ) except for R.Conclusions PlateletMapping(R) is sensitive to the inhibition of platelet function with good precision with dose-dependent effect.Moreover, Rapid TEG provides analysis of the overall coagulation function besides monitoring heparin therapy.

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.

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 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.

Objective To explore the clinical features, cytogenetic and molecular genetics characteristics of trisomy 12 p in neonates. Method The clinical data were reviewed in a neonate with trisomy 12 p confirmed by routine G-banding chromosome karyotype analysis, high throughput sequencing chromosome copy number variation analysis (CNV) and lymphocyte interphase fluorescence in situ hybridization (FISH) . Results The chromosome karyotype in peripheral blood of the neonate was 47, XX, +mar, and the karyotypes of her parents were normal. CNV detected a regional duplication of 12 p13.33-p11.1 (160001-34860000) with a fragment size of 34.7 Mb. Peripheral blood lymphocyte interphase FISH showed that there were 3 signals in the short arm of chromosome 12 in all interphase nuclei of the neonate, and no chimera existed. It was finally confirmed to be trisomy 12 p. Conclusion The combination of clinical features, peripheral blood karyotype analysis, CNV and FISH techniques can effectively confirm the diaganosis of trisomy 12 p.

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.

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.