Genotypes of neonatal inherited metabolic diseases in Zhejiang Provincefrom 2009 to 2021 / 预防医学

Objective@#To investigate the genotypes and prognosis of infants with definitive diagnosis of inherited metabolic diseases during neonatal screening in Zhejiang Province from 2009 to 2021, so as to provide insights into the management of birth defects.@*Methods@#The medical records of infants with definitive diagnosis of inherited metabolic diseases by tandem mass spectrometry during neonatal screening in Zhejiang Province from 2009 to 2021 were collected from the database created by Zhejiang Provincial Center for Neonatal Disease Screening. The prevalence, genotypes and prognosis of inherited metabolic diseases were analyzed. @*Results@#A total of 1 038 infants were definitively diagnosed with inherited metabolic diseases in Zhejiang Province from 2009 to 2021, with an overall incidence rate of 1/4 535. There were 400 infants with amino acid metabolic disorders (AAD), 342 infants with fatty acid oxidation metabolic disorders and 296 infants with organic acid metabolic disorders (OAD), with incidence of 1/11 767, 1/13 763 and 1\15 902, respectively. There were 32 types of diseases, including 13 types of AAD, 8 types of FAOD and 11 types of OAD identified, and phenylketonuria and tetrahydrobiopterin deficiency (PKU/BH4D), primary carnitine deficiency (PCD) and methylmalonic academia (MMA) were detected as the most common forms of AAD, FAOD and OAD, with incidence of 1/20 827, 1/24 262 and 1\49 030, respectively. A total of 789 infants received genetic testing (76.01%), and genetic testing was performed among 70.00% of infants with AAD, 83.04% of infants with FAOD and 76.01% of infants with OAD. The c.728G >A (p.R243Q) variant was the most common mutation in infants with PKU (29.17%), c.1400C>G (p.S467C) variant was the most common mutation in infants with PCD (33.46%), c.609G>A (p.W203X) variant was the most common mutation in infants with combined MMA (40.00%), and c.1663G>A (p.A555T) variant was the most common mutation in infants with MMA (17.86%). Among the 997 infants (96.05%) with successful follow-up, 973 infants (93.74%) had normal intelligence and physical developments, and 41 infants died (3.95%), including 9 deaths due to AAD, 15 deaths due to FAOD and 17 deaths due to OAD. @*Conclusions @#The incidence of PKU, PCD and MMA was high among infants with inherited metabolic diseases in Zhejiang Province from 2009 to 2021, with c.728G>A (p.R243Q), c.1400C>G (p.S467C) and c.609G>A (p.W203X) variants as common gene mutations, respectively. Most infants with inherited metabolic diseases had a favorable prognosis; however, the mortality of OAD was relatively high.

Progress in genetic research on tooth agenesis associated with Wnt/beta-catenin signaling pathway / 中华医学遗传学杂志

Tooth agenesis is the most common form of congenital craniofacial dysplasia seen in stomatology clinics, which may be caused by genetic and/or environmental factors. Tooth development is regulated by a series of signaling pathways, and variants in any of these strictly balanced signaling cascades can result in tooth agenesis and/or other oral defects. Notably, variants of genes of the Wnt/beta-catenin signaling pathway are important cause for both non-syndromic and syndromic tooth agenesis. This article has provided a review for the molecular genetics of tooth agenesis associated with Wnt/beta-catenin signaling pathway, which may shed lights on the etiology and molecular mechanism of this disease.

Phenotypic and genetic analysis of a child with multiple malformations due to 10p13p15.3 duplication / 中华医学遗传学杂志

OBJECTIVE@#To explore the basis for a child with multiple malformations and correlate her genotype with phenotype.@*METHODS@#The child was subjected to G-banding chromosomal analysis first, and low-coverage massively parallel copy number variation sequencing (CNV-seq) was used to define the aberrant region. The results were verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The child was found to have a karyotype of 46,XX,3pter+?. CNV-seq has identified a 13.5 Mb duplication at 10p13p15.3(60 466-13 556 655) and a 636 kb microdeletion at 3p26.3 (60 064-695 821). Her karyotype was the refore specified as 46, XX, ish der(3) t(3;10) (10p+,3pdim) by FISH. Both of her parents were normal, which suggested an de novo origin of the above variant.@*CONCLUSION@#The de novo 10p13p15.3 duplication probably underlies the mental retardation, development delay, dysmorphism, and gastroesophageal reflux in the child. The CHL1 gene from the 3p26.3 region may play an important role in the formation and function of the brain, which may underlie the intellectual deficit in this child.

Identification of a de novo missense variant of ARID1B gene in a child with mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#The child was subjected to next generation sequencing (NGS). Candidate variant was analyzed with bioinformatic software.@*RESULTS@#NGS revealed that the child has carried a de novo heterozygous c.4035G>C (p.Gln1345His) variant of the ARID1B gene. The variant was unreported previously and may cause instability of the protein structure.@*CONCLUSION@#The de novo missense variant of ARID1B gene may underlie the mental retardation in the child. Above result has enabled genetic counseling and prenatal diagnosis for her family.

Clinical characteristics and associated prognoses of secondary pseudomonas aeruginosa infection in patients with diabetic foot ulcer / 中华内分泌代谢杂志

Objective Secondary infection with pseudomonas aeruginosa( PA) in diabetic foot ulcer( DFU) was analyzed to investigate the related risk factor, antibiotic resistance, and prognoses of the infection. Methods Pathogen cultures were carried out in 966 DFU patients with their clinical data collected. All of the patients were followed-up for two years to observe the outcomes, including ulcer healing, amputation, recurrence of ulcers, non-fatal cardiovascular events, and death. The antibiotic susceptibility, risk factors and associated outcome of secondary PA infection were analyzed. Results Total incidence of PA infection was 13. 0％ in DFU patients, of which 38. 1％was secondary. The susceptibility rates of secondary infected PA to tobramycin, meropenem, eftazidime, levofloxacin, cefepime, and cefepime were similar to those in primary infected PA. However, the susceptibility rates of secondary infected PA to piperacillin, piperacillin/tazobactam, ciprofloxacin, imipenen, gentamicin, aztreonam, and amikacin decreased by 12％ to 22％ as compared with primary infected PA. The healing rate was much lower in patients with secondary PA infection compared with those with primary PA infection, and the accumulated healing rates at2yearswere44.44％ and70.4％ (P=0.01) respectively. Theriskofulcerhealingfailurewithintwoyears increased by 3 folds in patients with secondary PA infection. After adjusting for age, sex, Wagner grade, infection grade, and duration of DFU, plasma albumin level was an independent risk factor for secondary PA infection in patients with DFU(P=0. 001). Conclusions The antibiotics susceptibility rates of secondary infected PA were lower than those of primary infected PA. Secondary PA infection in DFU was less likely to be healed. Plasma albumin level was a risk factor for secondary PA infection.

The effects of urodynamic analysis and individualized bladder training on bladder function after spinal cord injury / 中华物理医学与康复杂志

Objective To explore any effect of combining urodynamic analysis with individualized bladder training in rehabilitating neurogenic bladder dysfunction after spinal cord injury.Methods Urology patients who had suffered a spinal cord injury were randomly divided into an experimental group and a control group.Both groups were given routine drugs and intermittent catheterization based on a urodynamics analysis using the Laborie urodynamic analyzer.The experimental group also received individualized bladder training for eight weeks.The bladder balance time and urinary infection rate of both groups were recorded 2,4,6 and 8 weeks after the intervention.Results After treatment,all of the patients wcrc able to achieve bladder balance,but the average bladder balance time of the experimental group was significantly shorter than that of the patients in the control group with similar injuries.After 2,4,6 and 8 weeks the incidence of urinary infection in the experimental group was significantly lower than in the control group.Moreover,after the treatment the average bladder storage volume (VH2O),bladder compliance (BC),bladder pressure (Pves) and detrusor pressure (Pdet) of both groups were significantly better than before the treatment,but the results of the experimental group were,on average,significantly better than those in the control group.Conclusion Individualized bladder training can effectively promote bladder balance and reduce the risk of urinary infection after spinal cord injury.

Episode clinical complexity model in Australia / 中华医院管理杂志

Presented in the paper are the Patient Clinical Complexity Level(PCCL)and Episode Clinical Complexity(ECC)models as used in Australia.Comparison of the differences between ECC model and PCCL model,and a replacement of ECC model of PCCL model in measurement of disease complexity,points the way for localized scheme design in China.

Association of serum C peptide level with the severity of diabetic foot ulcers and its healing rate / 中华内分泌代谢杂志

Objective To investigate the association of serum C peptide concentration with the severity and the outcome of diabetic foot ulcer (DFU). Methods The clinical data of 257 inpatients with DFU were collected, including fasting and postprandial 2h C peptide levels and C peptide area under curve (AUCCP ). The patients were followed up on the outcomes of ulcers and death. The associations of serum C peptide concentration with the Wagner degree, infection severity, and healing rate were analyzed. Results The medians of fasting and 2h postprandial serum C peptide as well as AUCCP were 1. 37(0. 02 ~ 9. 00) nmol/ L, 3. 22(0. 02 ~ 29. 61) nmol/ L, and 511. 65 (3. 60 ~ 2 691. 30)nmol·min-1 ·L-1 respectively, which were lower than general levels. The time of follow-up in our study was 2. 8 (1. 0 ~ 5. 1) years. By the end of study, the wound of 75. 88% patients was healed, 3. 5%undergone major amputation, and 23. 74% died. After adjusting for relative factors, there were no significant associations of serum fasting and postprandial C peptide levels and AUCCP with Wagner degree and infection severity (P>0. 05). Cox regression analysis showed that the fasting plasma C peptide and hemoglobin were the independent protective factors for the healing of ulcers; old age, male, higher infection degree, and diabetes family history were their independent risk factors ( all P < 0. 05). Conclusions The lower plasma fasting C peptide concentration in patients with DFU is not correlated with Wagner degree and infection severity, but closely related with healing rate.

The effect of music therapy on patients with post-stroke depression / 中国基层医药

Objective To observe the effect of music therapy on stroke patients with depression.Methods 70 post-stroke depression patients were divided into the observation group and the control group according to the hospitalized number,the control group received conventional therapy neurology without giving antidepressants;the observation group were given music therapy group basis.Both groups were at the time of enrollment and after treatment using the Hamilton Depression Rating Scale (HAMD),Self-rating Depression Scale (SDS) for the two groups of patients assessed the degree of depression.Results After the treatment,the HAMD score of the observation group was (23.57 ± 10.33)points,compared with the control group[(28.20 ± 8.83)points],the difference was statistically significant (t =2.02,P ＜ 0.05);the SDS score of the observation group was (61.00 ± 10.67) points,compared with the control group [] (66.11 ± 10.38) points],the difference was statistically significant (t =-2.03,P ＜ 0.05).Conclusion Music therapy for depression in patients with post-stroke recovery has a positive meaning.

Relationship between distribution of pathogenic micro-organism and the severity of diabetic foot ulcer infection / 中华内分泌代谢杂志

Objective To explore the distribution of pathogenic micro-organisms in the diabetic patients with foot infection,and to investigate the characteristics of the pathogen distribution and its relationship with the severity of diabetic foot ulcer( DFU ).Methods Ninety diabetic foot patients with positive culture of micro-organisms were classified into Wagner 1-5 grades according to the severity of DFU,which was ranked as mild,moderate,and severe infection based on the gradient of infection.The family,genus,and strain of micro-organisms were analyzed,and associated factors were discussed in regard to the kinds and severity of DFU and infection.Results With rising Wagner's grades and aggravating infection,the bacterial floras were transformed from gram-positive cocci( 61.1％ in Wagner 1 ) to gram-negative rods( 80.0％ in Wagner 5),at the same time,composite( 10.0％ to 28.6％ ) and opportunist ( 83.3％ to 100％ ) infections were increased.Wagner's grade,severity of infection,previous treatment,patients' age,control of blood glucose,course of DFU,etc,were all related to types of infection and opportunist infection ( P＜0.05 ).Conclusions Proportion of gram-negative bacilli with opportunist composite infection seems to increase in patients with severe DFU and severe infection requiring appropriate application of antibiotics.