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Under the background of scientific and technological innovation in the new era, ethical review of traditional Chinese medicine (TCM) is facing new opportunities and challenges. Focusing on how to maintain integrity and innovation in the ethical review work of TCM clinical research in TCM medical institutions, starting from the characteristics of innovation and inheritance of TCM clinical research, this paper discussed the construction of the ethical review system of TCM clinical research, key elements of attention, shortcomings and deficiencies, training and communication, etc. It is also proposed that the joint construction of a Chinese characteristic scientific and technological ethics governance system should consider the unique requirements of modern technological means for the ethical review of scientific and technological projects such as dialectical treatment, re-evaluation of prescription projects, and expansion of indications in clinical research of TCM; innovate the form of review and strengthen the process management of ethical review; scientifically, objectively and impartially evaluate the scientific nature and social value of clinical research projects in TCM; pay attention to the toxic side effects of TCM, especially compound preparations. So as to further improve the procedural norms and quality of ethical review of clinical research of TCM, protect the legitimate rights and interests and safety of subjects, and promote the development of medicine in China.
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Objective:To explore the ability of the Hammersmith Infant Neurological Examination (HINE) to predict the gross motor development of high-risk infants.Methods:A total of 207 high-risk infants were assessed with the HINE and the Gesell Developmental Schedule (GDS) at the ages of 3, 6, 9 and 12 months. They were then divided into a normal development group and a delayed group according to their gross motor development at 12 months old. The validity of the HINE′s discrimination was quantified retrospectively as the difference in the total HINE score at each follow-up month between the two groups. Spearman coefficients relating the total HINE score with the gross motor development quotient from the GDS were calculated at each follow-up month. The HINE′s total score threshold for predicting gross motor retardation at 12 months was determined from a receiver operating characteristics curve, and the predictive validity, sensitivity and specificity were evaluated by calculating the area under the curve.Results:At each time point the average total HINE score of the delayed group was significantly lower than the normal group′s average. The correlation between the HINE total scores and the GDS gross motor development quotients was strongest at 6 months old, and weakest at 3 months. The threshold total HINE score for predicting gross motor retardation at 12 months old was 60 at 3 months, 67 at 6 months, and then 71. The instrument′s sensitivity and specificity were very good at all four time points.Conclusion:The HINE can usefully predict gross motor retardation in the first year of life for high-risk infants. The critical value of the total score can be used as an auxiliary diagnostic reference for neuromotor development in such infants.
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Clinical data of a child diagnosed as Gillespie syndrome in the Department of Rehabilitation, Children′s Hospital of Nanjing Medical University in November 2019 were retrospectively analyzed.The 6-month-old boy presented psychomotor retardation, muscular hypotonia, photophobia, nystagmus and inability to focus and follow objects.Slit lamp examination of eyes revealed fixed dilation pupils, bilateral partial aniridia and characteristic iris strands.Genome sequencing and bioinformatics analysis showed a heterozygous splicing mutation in intron 26 of ITPR1 gene, c.3256-1G>A, which was a newly identified pathogenic mutation that was not been reported yet.Moreover, pa-rents of this case did not carry this mutation.It is suggested that Gillespie syndrome should be considered in children with bilateral partial aniridia, psychomotor retardation and muscular hypotonia.Genetic sequencing is helpful for early diagnosis.
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Objective@#To analyze the impact of intergenerational care on child physical health, so as to provide references for promoting the overall development of children s health.@*Methods@#Based on the 2016 national data of the Chinese Family Tracking Survey, descriptive statistics, Mann Whitney U test, Kruskal-Wallis H test and OLS regression analysis were used to explore the relationship between health status of 4 226 children aged 0-14 and intergenerational care.@*Results@#OLS regression analysis showed that intergenerational care had a significant impact on physical health of preschool children (t=-2.11,P=0.04), but had no significant impact on the health of school-age children (t=-0.58,P=0.56). Annual family income, family population size, age and gender of caregivers had a significant impact on the health of preschool children (P<0.05).The self-rated health of caregivers and whether children participated in medical insurance had a significant impact on the health of all children (P<0.01).@*Conclusion@#Intergenerational care has a significant impact on the health status of preschool children, but has no impact on the health status of school age children. Attention should be paid to the health of caregivers, medical insurance condition and the impact of physical exercise on children’s health, as well as the health literacy improvement of child caregivers, and children’s medical insurance and welfare.
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OBJECTIVE@#To explore the clinical features and genetic characteristics of a child with 5q14.3 microdeletion syndrome.@*METHODS@#Whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). Candidate CNVs were verified by real-time fluorescence quantitative PCR.@*RESULTS@#The patient presented with psychomotor retardation, epilepsy, peculiar face and hypotonia. The results of WES suggested that he has carried a heterozygous deletion for chr5:86 564 268-88 119 605. CNV-seq indicated that the patient carried a heterozygous deletion of 4.76 Mb heterozygous deletion on chromosome 5q14.3. The MEF2C gene and RASA1 gene in the deletion area were verified by real-time fluorescence quantitative PCR. The results showed that the MEF2C geneand RASA1 gene were heterozygous deletion, which was consistent with the sequencing results.@*CONCLUSION@#The child was diagnosed with 5q14.3 microdeletion syndrome. Haploinsufficiency of the MEF2C gene may underlie the manifestations of 5q14.3 microdeletion syndrome.
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Humans , Male , Chromosome Deletion , Chromosome Disorders , DNA Copy Number Variations , Genetic Testing , Phenotype , Exome Sequencing , p120 GTPase Activating ProteinABSTRACT
OBJECTIVE@#To explore the clinical features and molecular basis of a Chinese pedigree with two siblings affected by cytochrome P450 oxidoreductase deficiency (PORD).@*METHODS@#Clinical features of the patients were reviewed, and their genomic DNA was subjected to next generation sequencing (NGS).@*RESULTS@#The two siblings presented peculiar facies, genital hypoplasia and skeletal deformity. NGS revealed that both have carried compound heterozygous variants of the POR gene, namely c.1370G>A and c.517-19_517-10delGGCCCCTGTGinsC, which were respectively inherited from their parents.@*CONCLUSION@#Both siblings were diagnosed with PORD based on sequencing of the POR gene. The newly discovered POR c.517-19_517-10delGGCCCCTGTGinsC has enriched the spectrum of PORD-related genetic variants.
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To investigate the effects of genistein (Gen) on the biosynthesis of N-glycolylneuraminic acid (Neu5Gc) in rats, 80 4-week-old male SD rats were randomly equally into the control and genistein groups. The rats of control and genistein groups were fed 5% ethanol and 300 mg/(kg·d) genistein respectively by gavage. The contents of Neu5Gc in hind leg muscle, kidney and liver tissues of rats were measured by using high performance liquid chromatography coupled with fluorescence detector (HPLC/FLD), and the mechanism of inhibition of Neu5Gc synthesis was investigated by using the molecular docking of Gen and sialyltransferase. On the 15th day, the content of Neu5Gc in hind leg muscle and liver tissues decreased 13.77% and 15.45%, respectively, and there was no significant change in the content of Neu5Gc in kidney tissues. On the 30th day, the content of Neu5Gc in liver tissues decreased 13.35%, however, there was no significant change in the content of Neu5Gc in kidney tissues and Neu5Gc was not detected in hind leg muscle. The content of Neu5Gc in hind leg muscle, kidney and liver tissues decreased respectively 32.65%, 32.78%, 16.80% and 12.72%, 11.42%, 12.30% while rats fed on the 45th and the 60th days. Genistein has formed the hydrogen bond with sialyltransferase activity site residues His319, Ser151, Gly293, Thr328 and formed a hydrophobic interactions with the residues His302, His301, Trp300, Ser271, Phe292, Thr328, Ser325 and Ile274. The results of molecular docking indicated that the weak intermolecular interaction was the main cause of genistein inhibiting sialyltransferase activity. The research results provided an experimental basis for the subsequent reduction of Neu5Gc in red meat before slaughter.
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Animals , Male , Rats , Gene Expression Regulation, Enzymologic , Genistein , Pharmacology , Molecular Docking Simulation , Neuraminic Acids , Metabolism , Random Allocation , Rats, Sprague-Dawley , Transferases , MetabolismABSTRACT
Objective@#To investigate the clinical value of the serum new molecular markers, soluble triggering receptor expressed on myeloid cells-1(sTREM-1)and soluble hemoglobin scavenger receptor(sCD163), in the diagnosis of sepsis in elderly patients with burns.@*Methods@#A total of 58 inpatients with burns from Jun 2017 to June 2018 were enrolled in the study.Patients were divided into three groups: the sepsis group(n=12), the localized infection group(n=21)and the non-infection group(n=29). The levels of sTREM-1 and sCD163 were determined by enzyme-linked immunosorbent assays(ELISAs). The clinical diagnostic value of sTREM-1 and sCD163 was assessed by receiver operating characteristic(ROC)curve analysis.@*Results@#There was a statistically significant difference in the levels of sTREM-1 and sCD163 at day 1 between the three groups(F=20.994 and 38.363, P<0.01). Serum levels of sTREM-1 and sCD163 were higher in the sepsis group than in the localized infection group and the non-infection group.Serum levels of sTREM-1 and sCD163 were higher in the localized infection group than in the non-infection group.Serum levels of sTREM-1 and sCD163 were lower at day 7 than those at day 1 in all groups(F=21.242 and 41.035, P<0.01). Serum sTREM-1 levels were positively correlated with serum sCD163 levels(r=0.609, P=0.000). The AUC of sTREM-1 and sCD163 for the diagnosis of sepsis was 0.880(95%CI: 0.816~0.926).@*Conclusions@#Serum levels of sTREM-1 and sCD163 are elevated with increasing degrees of infection.Monitoring serum sTREM-1 and sCD163 levels is helpful for the diagnosis of sepsis in elderly patients with burns.
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Objective To investigate the clinical value of the serum new molecular markers,soluble triggering receptor expressed on myeloid cells-1 (sTREM-1)and soluble hemoglobin scavenger receptor(sCD163),in the diagnosis of sepsis in elderly patients with burns.Methods A total of 58 inpatients with burns from Jun 2017 to June 2018 were enrolled in the study.Patients were divided into three groups:the sepsis group(n=12),the localized infection group(n=21)and the non-infection group (n=29).The levels of sTREM-1 and sCD163 were determined by enzyme-linked immunosorbent assays(ELISAs).The clinical diagnostic value of sTREM-1 and sCD163 was assessed by receiver operating characteristic(ROC)curve analysis.Results There was a statistically significant difference in thelevels of sTREM-1 and sCD163 at day 1 between the three groups(F =20.994 and 38.363,P＜0.01).Serum levels of sTREM-1 and sCD163 were higher in the sepsis group than in the localized infection group and the non-infection group.Serum levels of sTREM-1 and sCD163 were higher in the localized infection group than in the non-infection group.Serum levels of sTREM-1 and sCD163 were lower at day 7 than those at day 1 in all groups(F=21.242 and 41.035,P＜0.01).Serum sTREM-1 levels were positively correlated with serum sCD163 levels (r =0.609,P =0.000).The AUC of sTREM-1 and sCD163 for the diagnosis of sepsis was 0.880(95％CI:0.816～0.926).Conclusions Serum levels of sTREM-1 and sCD163 are elevated with increasing degrees of infection.Monitoring serum sTREM-1 and sCD163 levels is helpful for the diagnosis of sepsis in elderly patients with burns.
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@#Objective To observe the effects of Children's Crawling-Promotion-Training-Robot on gross motor function and cognitive function in children with spastic diplegia.Methods From January to December, 2017, 60 children with spastic diplegia were selected and randomly divided into three groups, with 20 cases in each group. All the groups received routine comprehensive rehabilitation therapy. In addition, group I received manual crawling training, group II was treated with crawler-training therapy, and group III was treated with Children's Crawling-Promotion-Training-Robot. They were treated ten minutes every day, five days a week for twelve weeks. Before and after treatment, the gross motor development, the muscle tension and cognitive function were evaluated with Gross Motor Function Measure Scale-88 (GMFM-88), modified Ashworth Scale (MAS) and developmental quotient (DQ) in Gesell Developmental Scale (GDS), respectively.Results After treatment, the overall percentage of GMFM-88 and the score of C dimension which were tightly tied to crawling and kneeling improved in all the groups (t>17.438, P<0.001), and the score was better in groups II and III than in group I (P<0.05), especially in group III (P<0.05); the score of MAS improved in all the groups (t>2.144, P<0.05), and no significant difference was found among them (F=0.199, P>0.05); the score of DQ in GDS improved in groups II and III (t>3.040, P<0.001), and the score was better in groups II and III than in group I (P<0.05), especially in group III (P<0.05).Conclusion Children's Crawling-Promotion-Training-Robot could improve the gross motor and cognitive function of children with spastic diplegia, which is better than manual crawling training and crawler-training.
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" Filial piety" is China's traditional culture.It not only educates the offspring to be grateful and to repay good deeds,but more importantly guides people to take up social responsibilities and obligations.However,there are always contradiction dilemmas between loyalty and filial piety in reality.With the change of the times,this kind of contradiction is getting more prominent.Rethinking the choice of " raising the children but not provi-ding for the elderly" or choosing for helplessness,the causes of which include: the development of medical technol-ogy aggravates the contradiction between the ability and the cost of providing for the elderly,the contradiction be-tween the prolongation of the life of the elderly and the limitation of their children's ability to support them; Chi-na's one-child policy for more than 30 years has weakened the support capacity of the offspring; urban develop-ment leads to population migration and challenges family pension; the instability of family structure affects providing for the elderly; social pension is inadequately prepared and so on.To guarantee intergenerational equity and im-prove people's quality of life,it should advocate the scientific view of providing for the elderly,which must respect the elderly's autonomy,improve and promote the assessment and supervision of basic needs such as living will,hospice care,and medical abandonment.Through carrying out relevant research,it should establish a systematic project of good Chinese-style scientific pension and improve the social pension security system.
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Objective To investigate any protective effect of transplanting EPhrinB2-modified bone marrow mesenchymal stem cells ( BMSCs) with a rat model of cerebral palsy. Methods BMSCs were isolated and cultured, then further modified by lentivirus-mediated transfection of the EPhrinB2 gene. Ninety-six Sprague-Dawley rats were randomly divided into a sham group, a solvent control group ( PBS group) , an empty lentivirus group ( EGFP group) and an EPhrinB2 recombinant lentivirus group ( EPhrinB2 group) , each of 24. A model of cerebral palsy was estab-lished in the rats of the PBS, EGFP and EPhrinB2 groups using hypoxic-ischemic encephalopathy. Seven days after the operation, the lateral ventricles of the PBS, EGFP and EPhrinB2 group mice were injected with phosphate-buff-ered saline solution, BMSCs or EPhrinB2-modified BMSCs respectively. EPhrinB2 protein expression in the hippo-campus was detected using immunohistochemistry 28 days after the operation. The neuron density in the CA1 region of the hippocampus was observed using hematoxylin and eosin staining, and any apoptosis of hippocampal neurons was detected using terminal deoxynucleotidyl transferase dUTP nick end labeling. The expression of nestin and CD31 in the hippocampus was observed using immunofluorescence assays. Morris water maze testing was also conducted to e-valuate changes in learning and memory ability. Results Compared with the other 3 groups, a significant increase in the expression of protein EPhrinB2 was observed in the hippocampuses of the EPhrinB2 group rats. The pathologi-cal changes in the hippocampus among the EPhrinB2 group were significantly less severe than those in the PBS and EGFP groups. The rate of apoptosis in the hippocampuses of the EPhrinB2 group was significantly lower than that of the other groups. Immunofluorescence showed that nestin- and CD31-positive cells were significantly more numerous in the EPhrinB2 group than in the others. In the water maze the average latency of the EPhrinB2 group was signifi-cantly shorter than those of the other groups. Conclusion Lentiviral-mediated EPhrinb2 transfection of BMSCs into the hippocampus can promote EPhrinB2 gene expression, promote angiogenesis and neuron differentiation, inhibit ap-optosis and accelerate the repair of injured nerves.
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Objective To observe the effect of supplementing constraint-induced movement therapy (CIMT) with virtual reality games in rehabilitating the motor function of hemiplegic children with cerebral palsy (CP).Methods Fifty hemiplegic children with CP were randomly divided into a control group and a treatment group,each of 25.All were given conventional rehabilitation.The children in the control group received CIMT for 4 hours,plus 1 hour of occupational therapy for the more-affected limb supported by therapists and 3 hours of daily training in life activities with their guardians' help.Those in the treatment group received occupational therapy for 1 hour,played virtual reality games for 1 hour and practiced daily life activities for 2 hours per day.All of the treatments were carried out five days a week for 3 weeks.Before and after the intervention the quality of upper extremity skills test (QUEST),the Chinese version of the gross motor function measuring scale (GMFM) and the pediatric evaluation of disability inventory (PEDI) were used to evaluate upper limb function,gross motor function and the social abilities.Results After the treatment,significant improvement was observed in the average QUEST,GMFM and PEDI scores of both groups,but the average scores in the treatment group were significantly higher than among the controls.Conclusions CIMT combined with playing virtual reality games improves the motor function and social abilities of hemiplegic children with CP.
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<p><b>OBJECTIVE</b>To analyze the clinical features and genetic basis of a female neonate with muscle weakness, abnormal brain magnetic resonance imaging and elevated blood lactate.</p><p><b>METHODS</b>The patient was subjected to clinical and laboratory examination. Next generation sequencing was carried out for the patient and her relatives.</p><p><b>RESULTS</b>The proband was diagnosed as small for gestational age, with clinical features including muscle weakness, abnormal brain magnetic resonance imaging, increased blood lactate, and acidosis. By genetic testing, a de novo PDHA1 mutation c.1133G to A (p.R378H) was identified, which was known to be pathogenic. The patient was diagnosed with pyruvate dehydrogenase complex deficiency disease (PDCDD), for which vitamin B1, coenzyme Q10, and L-carnitine were prescribed, and a ketogenic diet was recommended. Follow-up at 4-month-7-day found that her blood lactic acid was reduced to normal but her muscle tone was still low.</p><p><b>CONCLUSION</b>The proband was diagnosed as PDCDD caused by a PDHA1 missense mutation. NGS has provided a powerful tool for the diagnosis of such diseases.</p>
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<p><b>OBJECTIVE</b>To explore the genetic cause of a female case with intellectual development disorder.</p><p><b>METHODS</b>G banding karyotyping was performed for the patient. Following DNA extraction, the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing. qPCR was used to detect the copy numbers of the SRY gene.</p><p><b>RESULTS</b>The karyotype of the patient was 47,XXY. PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number.</p><p><b>CONCLUSION</b>The female phenotype of the patient is probably due to deletion of the SRY gene on the Y chromosome. This is the first report of 47,XXY female case with deletion of the SRY gene in China.</p>
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Female , Humans , Male , Base Sequence , Chromosome Banding , Chromosomes, Human, Y , Genetics , Genes, sry , Genetics , Intellectual Disability , Genetics , Karyotype , Karyotyping , Klinefelter Syndrome , Genetics , Polymerase Chain Reaction , Review Literature as Topic , Sequence Analysis, DNA , Methods , Sequence Deletion , Sequence Homology, Nucleic AcidABSTRACT
Objective To understand the relationship between habitat choice of Himalaya marmot and vegetation elements such as vegetation coverage,grassland type,vegetation type and so on by using geographic information technology in Qinghai.Methods Himalayan marmot field survey data from Qinghai Provincial Institute for Endemic Disease Control and Prevention and vegetation coverage,grassland type and other remote sensing and geographic information data was processed for spatial overlay using ArcGIS tool.The vegetation characteristic information of the location of Himalayan marmot was searched and analyzed statistically,and then the initial quantitative analysis of Himalayan marmot on the selection of habitat vegetation conditions was made.Results After screening,84 samples of Himalayan marmot were retained.The mean of vegetation coverage was 0.708 5,the range was 0.313 3-1.000 0.Totally 54.76％ (46/84) of the Himalayan marmot samples was in the vegetation coverage of 0.70 to 1.00.Among the nine grassland types,the alpine meadows accounted for 39.78％ of total area of Qinghai,with 59 Himalayan marmot sample points distributed,which accounting for 70.24％ (59/84).Himalayan marmot mainly feed on some of the roots of grassland plants,including Poa pratensis,Alpine Kobresia,Potentilla,Polygonum viviparum,Kobresia cordata,Oxytropis,Aster and other miscellaneous grass.Conclusions Vegetation conditions is one of the important factors of Himalayan marmot in habitat selection.Quantitative analysis of the relationship between Himalayan marmot spatial distribution and vegetation factors by using geographic information technology,can deepen the understanding of marmot habitat selection,and provide a basis for grassland plague surveillance and control.
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Objective To assess the short-time economics of various glutamine dipeptide-enriched parenteral nutrition (PN) for patients undergoing elective surgery for gastrointestinal tumors, with an attempt to provide evidence for decision makers on clinical nutrition support.Methods A prospective cohort study was designed.From payer/disburser''s perspective, a cost-effectiveness decision-tree model was developed to assess the clinical outcomes and short-time economic effects of glutamine dipeptide-enriched PN that used in different time points (early postoperative or perioperative).Cost-effectiveness analysis, cost-utility analysis, and incremental cost-effectiveness analysis were adopted in the decision-tree model.One-way sensitivity analysis was performed to determine the robustness of the results.Results Totally 107 patients were included.There was no significant difference between the perioperative alanine(Ala) glutamine(Gln) nutrition support (group A) and early postoperative Ala-Gln nutrition support (group B) in the ratio of 5％ weight declines on the 8th day after surgery and infection-related postoperative complications (72.1％ vs.78.1％, χ2=0.509, P=0.498 and 2.32％ vs.4.69％, χ2=0.060, P=0.806).The levels of prealbumin (PA) and albumin(Alb) and the level of total lymphocyte count(TLC) also the time of recovering gastrointestinal function, length of stay nutritional discharge index(LOSNDI), and direct costs were significantly different [PA:(208.19±56.92)mg/L vs.(187.97±62.05)mg/L, t=2.283,P=0.039;Alb:(33.82±3.91)×109 vs.(31.96±4.57)×109, t=2.184, P=0.036;TLC:(1.19±0.55)×109 vs.(0.89±0.66)×109, t=2.461, P=0.015;the time of recovering gastrointestinal function(3.06±0.28)d vs.(3.39 ± 0.34)d, t=-3.675, P=0.000;LOSNDI:(16.84±2.92)d vs.(18.52 ±3.47)d, t=-2.613, P=0.011;direct costs:￥(17 029.05±317.28) vs.￥(15 610.64±292.56), t=23.764, P=0.000].When LOSNDI and quality-adjusted life years (QALYs) were estimated as indicators of effectiveness, the incremental cost-effectiveness ratios and incremental cost-utility ratios of group A were ￥844.3 and ￥70 920.5, respectively.Net monetary benefit of group B was more than that of group A.One-way sensitivity analysis showed that parameters had no significant effect on the model.Conclusion When using local per capita gross domestic product as threshold, early postoperative Ala-Gln PN was more economical than perioperative Ala-Gln PN strategy evaluation.
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Objective:To observe the curative effect of modified amniotic membrane transplantation for agricultural pterygium.Methods: A total of 276 cases (276 eyes) with early pterygium were randomized divided into traditional group (138 cases) and modified group (138 cases) as random table. The traditional group was treated with pterygium excision in combination with autologous conjunctival transplantation; the modified group was treated with modified amniotic membrane transplantation; to observe the curative effect of the two groups.Results: After all of patients were followed up for 1 year, 122 cases were cured and 16 cases were recurrence, and the recovery rate was 88.41% in traditional group; 131 cases were cured and only 7 cases were recurrence, and the recovery rate was 94.93% in modified group and was better than traditional group; the difference between the two groups was statistical significant (x2=5.02,P<0.05).Conclusion: The modified amniotic membrane transplantation method is simple in operation, mini invasive for eye tissue, and can retain conjunctival tissue in utmost; it also can improve success rate of surgery and be an effective mean for treatment of pterygium.
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<p><b>OBJECTIVE</b>To evaluate the clinical effectiveness of Onodera prognostic nutrition index (OPNI) in the predictive value of nutrition risk.</p><p><b>METHODS</b>In a prospective cohort study from July 2014 to June 2015 in the Department of General Surgery of the Ninth People's Hospital of Chongqing, NRS2002 and OPNI were conducted in 200 patients undergoing gastrointestinal elective operation. OPNI was calculated with serum albumin (Alb) and peripheral lymphocyte (TLC) [OPNI=Alb(10(9)/L)+5×TLC(10(9)/L)]. By using the results of NRS2002 as the golden standard for diagnosis of nutrition risk (A NRS2002 score≥3 was deemed as nutritional risk and a nutritional care plan should be initiated. A NRS2002 score <3 was deemed as no nutritional risk), the effectiveness of OPNI was evaluated by the receiver operator characteristic(ROC) curve. The sensitivity, specificity, positive and negative predictive values, Youden indexes and area under ROC curve(AUC) of different diagnostic cut-off points of OPNI were analyzed to determine the optimal operating point (OOP). Kappa test was used to estimate the consistency of different cut-off points for OPNI with NRS2002 in defining nutrition risk.</p><p><b>RESULTS</b>A total of 103 patients were of NRS2002 ≥3 group, and 97 of NRS2002 <3 group. The overall OPNI was 45.4±7.4. When OOP was 45.8, the AUC of OPNI was 0.914 (95% CI: 0.873 to 0.954); the sensitivity, specificity, Youden indexes were 85.4%, 85.6%, 0.711; the positive predictive value and negative predictive value were 85.3% and 83.7%, respectively. According to this OOP, the subjects were divided into the OPNI ≥45.8 group(n=102) and OPNI <45.8 group (n=98). Compared with OPNI ≥45.8 group, OPNI <45.8 group were older [(66.5±12.1)years vs. (57.0±15.3) years, t=-4.905, P=0.000], and had lower BMI[(20.4±3.0) kg/m(2) vs. (21.7±3.0) kg/m(2), t=3.069, P=0.002], lower albumin[(34.7±4.7)10(9)/L vs.(43.6±3.4)10(9)/L, t=15.542, P=0.000] and lower TLC[(1.0±0.5)10(9)/L vs.(1.6±0.7)10(9)/L, t=7.254, P=0.000], respectively. Kappa test indicated that when using OPNI=45.8, the diagnostic value of OPNI on nutrition risk was consistence with NRS2002(Kappa=0.691, P=0.000).</p><p><b>CONCLUSIONS</b>OPNI can be used as a relatively simple and reliable method for clinical screening and assessment of nutrition risk.</p>
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Humans , Digestive System Surgical Procedures , Elective Surgical Procedures , Lymphocytes , Malnutrition , Diagnosis , Nutrition Assessment , Nutritional Status , Prospective Studies , ROC Curve , Risk , Sensitivity and Specificity , Serum AlbuminABSTRACT
Objective To explore the clinical features and the gene mutations in MECP 2 duplication syndrome. Methods The clinical data of a child with developmental retardation and hypophrenia accompanied with respiratory tract infection was analyzed retrospectively. Microarray analysis technique was used to detect the genes in the patient and his family. The pertinent literature was reviewed. Results A 1-year and 7-month old boy was found to have hypotonia, developmental delay, and recurrent respiratory tract infections after birth. Microarray analysis showed a duplication of 441.88kb in Xq28 area and diagnosis of MECP2 duplication syndrome was confirmed. His grandmother, mother, and two aunts were found duplication of 441.73-441.88kb in Xq28 area, all of whom were MECP2’s female carrier. Conclusions The improvement of chromosome chip technology inspection is helpful to the early diagnosis of MECP2 duplication syndrome.