Abstract: Objective To investigate the nutritional status of patients with pulmonary tuberculosis and its effects on conventional anti-tuberculosis treatment, so as to provide a basis for improving the efficacy of conventional treatment of pulmonary tuberculosis. Methods The relevant data of 168 patients with pulmonary tuberculosis admitted to Suining Central Hospital from April 2020 to April 2022 were retrospectively analyzed. Nutritional status of the patients before treatment was investigated using the Mini Nutritional Assessment (MNA) score, and the influencing factors of nutritional status before treatment were analyzed. Therapeutic effects of anti-tuberculosis drugs in the non-nutritional risk group and the nutritional risk group were comparatively analyzed. Results Among the 168 patients, 64 were assessed as having good nutritional status before treatment, 59 had the risk of malnutrition and 45 were malnourished according to the MNA score. Univariate analysis and linear regression analysis showed that age, underlying diseases, and clinical symptoms were factors affecting the MNA score before treatment (t=3.173, 3.718, 2.018, P all<0.05); whereas gender and education level were not factors affecting MNA score before treatment (t=0.065, 0.059, P all>0.05). According to the MNA score before treatment, the patients were dividedinto a non-nutritional risk group (MNA score > 23.5) and a nutritional risk group (MNA score ≤23.5). The negative conversion rate of sputum bacteria, effective rate of focal absorption in the non-nutritional risk group were 92.19% (59/64)and90.63% (58/64) , respectively, which were significantly higher than corresponding 79.85% (82/104)and76.92% (80/104) in the nutritional risk group. The drug resistance rate, adverse reaction rate, and average treatment cost of the no nutritional risk group and nutritional risk group were 7.81% (5/64) and 21.15% (12/104), 15.63% (10/64) and 31.73% (33/104), (0.62±0.13) million yuan and (0.89±0.26) million yuan, respectively, with significant differences (χ2=5.228, 5.071, 7.685, 5.396, 7.728, P all<0.05). Conclusions Patients with pulmonary tuberculosis exhibit poor nutritional status before treatment. The patients’nutritional status is easily affected by age, underlying diseases, and clinical symptoms, thereby affecting the effect of anti-tuberculosis treatment. Therefore, early nutritional intervention for tuberculosis patients should be recommended in order to prevent malnutrition and enhance the effectiveness of anti-tuberculosis treatment.

Objective To investigate the gene carrying rate,gene type and composition ratio of thalassemia among pre-pregnant population in Chongqing area.Methods A total of 1054 people were enrolled in the hospital from April 2014 to March 2016 for thalassemia screening.The content of screening included mean corpuscular volume (MCV),mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis.Thalassemia gene was examined in people with any abnormal term of screening result.Results In 10854 cases,1117 cases showed positive in thalassemia primary screening,and the positive rate was 10.29％.458 cases were tested positive of thalassemia gene,the carrying rate of thalassemia was 4.21％.In which,253 cases of pure a-thalassemia were tested.The carrying rate of α-thalassemia was 2.33％.The most common kind in α-thalassemia was--SEA whose constituent ratio were 52.17 ％.197 cases of pure β-thalassemia were tested,the carrying rate of β-thalassemia was 1.81％.The most common kind in β-thalassemia was CD17 (A→T),whose constituent ratio were 31.47 ％.11 cases were diagnosed with αβ-thalassemia.Conclusion Chongqing is high-prevalence area of thalassemia.It is important to conduct thalassemia genetic screen before pregnancy which plays a vital role in improving population quality and achieving prepotency.

No abstract available.
Animals ; Brain* ; Rats*

OBJECTIVETo study the effect of triptergium wilfordii polyglycosidium on the content of Th1 and Th2 in the treatment child patients of rcurrent nephrotic syndrome.

METHODPatients were randomized into treatment group and health group. Sixty-one patients in treatment group were treated with triptergium wilfordii polyglycosidium 1 mg x kg(-1) x d(-1) orally tid for 12 weeks. However, patients in health group was not treated with any drugs. Twelve weeks constituted one course of treatment and the content of IL-12, IL-2, TNF-alpha, IL-13, IL-6, IL-4 in peripheral blood was measured before and behind therapy.

RESULTIn treatment group, the content of serum cytokines behind therapy was significantly lower than that before therapy, except for IL-12.

CONCLUSIONTriptergium wilfordii polyglycosidium could reduce the cytokine level (except for IL-12) of Th1 and Th2, which could lead a therapeutic effect of in the child patients of RNS.

Child ; Drugs, Chinese Herbal ; pharmacology ; Female ; Glycosides ; pharmacology ; Humans ; Interleukin-12 ; metabolism ; Interleukin-13 ; metabolism ; Interleukin-2 ; metabolism ; Interleukin-4 ; metabolism ; Male ; Nephrotic Syndrome ; drug therapy ; metabolism ; Th1 Cells ; drug effects ; metabolism ; Th2 Cells ; drug effects ; metabolism ; Tripterygium ; chemistry ; Tumor Necrosis Factor-alpha ; metabolism

OBJECTIVETo explore the effect of Chinese materia medica on immune intervention of infantile recurrent respiratory tract infection.

METHODThirty-one children of recurrent respiratory tract infection were randomly divided into two groups: therapy group was treated with oral Chinese materia medica (b. i. d), control group was only treated with oral carboxymethyl liquor (< 4 years, 3 mL; 4-7 years, 5 mL; > 7 years, 7 mL, t. i. d). The change of IL-12,TNF-alpha, IL-6, IL-13, IL-6 and IL-4 in different time were observed and analyzes.

RESULTCompared with the control group, the level of IL-12 and IL-2 was significantly increased after treatment of oral Chinese materia medica (P < 0.01), however, the level of TNF-alpha, IL-13, IL-4, and IL-6 was decreased after treatment (P < 0.01). During one years follow-up study, the frequency of respiratory infection every year of therapy group was significantly decreased than that of control group.

CONCLUSIONChinese materia medica could prevent infantile recurrent respiratory tract infection effectively, increase humoral immunity function and ensure normal growth in children.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Immunotherapy ; methods ; Infant ; Infant, Newborn ; Male ; Materia Medica ; therapeutic use ; Recurrence ; Respiratory Tract Infections ; therapy

OBJECTIVETo study the changes of serum albumin contents after operation and investigate whether post-operational serum albumin contents are correlated with the disease severity in children with acute intussusception.

METHODSSerum albumin contents were measured using the automatic biochemistry analyzer in 32 children with mild acute intussusception and 21 children with severe acute intussusception 1 day after surgical operation. After 5 days combined treatment, serum albumin contents were re-examined. Thirty healthy children severed as the control group. The correlation between post-operational serum albumin contents and critical illness scores was evaluated.

RESULTSSerum albumin contents in the mild (34.2+/-6.5 g/L; P<0.05) and the severe intussusception groups (25.8+/-7.5 g/L; P<0.01) 1 day after operation were significantly lower than those in the control group (37.1+/-4.1 g/L). There were significant differences in serum albumin contents between the mild and the severe intussusception groups (P<0.05). Five days after operation, serum albumin contents in the mild intussusception group significantly increased (37.1+/-11.4 g/L; P<0.05), while serum albumin contents in the severe intussusception group did not differ from those 1 day after operation. There was a positive correlation between serum albumin contents on the 1st day after operation and the critical illness scores (r=0.879, P<0.01).

CONCLUSIONSSerum albumin contents decreased on the 1st day after operation and were correlated with the disease severity in children with acute intussusception. Hypoalbuminemia lasted for a longer period in severe cases. The post-operational measurement of serum albumin contents may be useful in the evaluation of the severity for children with acute intussusception.

Acute Disease ; Child, Preschool ; Female ; Humans ; Infant ; Intussusception ; blood ; complications ; surgery ; Male ; Serum Albumin ; analysis

Objective To elucidate the molecular genetic etiology of patients with disorders of sex development(DSD)using whole exome sequencing(WES),thereby enhancing our understanding of the underlying mechanisms of sexual development abnormalities.Methods Retrospective analysis was conducted on clinical data of 60 DSD patients diagnosed in the First People's Hospital of Yunnan Province between March 2008 and August 2021,with an additional family study for one proband.Genomic DNA was extracted from patients for WES analysis.Single nucleotide polymorphism(SNP)and insertions/deletion(InDel)tests were identified using SAMtools software in conjunction with established SNP and InDel databases.Copy number variations(CNVs)at the exon level were detected using ExomeDepth,while the potential pathogenicity of mutations was predicted with PolyPhen-2,Mutation taster and PyMol software,with Sanger sequencing employed for confirmation.Results The study included 22 patients with 46,XX DSD and 38 with 46,XY DSD.Among the 46,XX DSD patients,the SRY gene was detected in 14 patients.In the remaining 8 patients and a proband's families,single nucleotide site variations(SNVs)of NR5A1,PROKR2 and ANOS1 genes were identified in 2 patients,and CNVs in CYP21A2 gene were found in 4 patients.The pathogenicity of CYP21A2 EX1 Dup has been previously reported,while the remaining 3 CNVs were of uncertain significance,and no DSD-related mutations were detected in 2 patients.In the WES analysis of 46,XY DSD patients,10 pathogenic or likely pathogenic SNVs across 5 genes(SRY,AR,SRD5A2,CYP17A1,and NR5A1)were identified in 14 patients.Additionally,5 likely pathogenic CNVs involving the CYP21A2,AKR1C2,CBX2,and NR5A1 genes were detected in 5 patients,comprising 3 deletions and 2 duplications.Novel SNVs in NR5A1(c.722G>T,c.48C>G)and ANOS1 c.564A>T were identified,with no prior reports in relevant databases.The pathogenicity of CYP21A2 EX1 Dup is documented in related databases,while the remaining CNVs have not been previously reported.Conclusion The utilization of WES technology has enhanced the diagnostic potential for DSD,broadened the spectrum of known DSD-related gene mutations,and deepened our comprehension of DSD pathogenesis,offering valuable support for genetic counseling.

OBJECTIVE: To study the association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy (SMA). METHODS: A total of 45 children with SMA were enrolled. Multiplex ligation-dependent probe amplification was used to measure the gene copy numbers of SMN1 and SMN2. The association of copy number of SMN1 and SMN2 with clinical phenotypes was analyzed. RESULTS: Of the 45 children with SMA, 42 (93%) had a homozygous deletion of SMN1 exons 7 and 8, and 3 (7%) had a deletion of SMN1 exon 7 alone. No association was found between SMA clinical types and the deletion types of SMN1 exons 7 and 8 (P>0.05). There was a significant difference in the distribution of SMN2 gene copy numbers between the children with SMA and the healthy children (P<0.05). The children with SMA usually had two or three copies of SMN2 gene, while the healthy children usually had one or two copies of SMN2 gene. There was a significant difference in the distribution of SMN2 copy numbers among the children with different SMA clinical types (P<0.05). The children with two copies of SMN2 gene had a significantly lower age of onset than those with three or four copies. Most of the children with type I SMA had two or three copies of SMN2 gene. Most of the children with type II SMA had three copies of SMN2 gene. Most of the children with type III SMA had three or four copies of SMN2 gene. Children with a higher copy number of SMN2 gene tended to have an older age of onset and better motor function and clinical outcome, and there was a significant association between SMN2 gene copy number and clinical outcome (P<0.05). CONCLUSIONS The SMN2 gene can reduce the severity of SMA via the dosage compensation effect. SMN2 copy number is associated with the phenotype of SMA, and therefore, it can be used to predict disease severity.
Child ; Humans ; Muscular Atrophy, Spinal ; genetics ; Phenotype ; Survival of Motor Neuron 1 Protein ; genetics ; Survival of Motor Neuron 2 Protein ; genetics

A terminal deoxynucleotidyl transferase ( TdT ) amplification based DNA-copper nanoclusters (CuNCs) sensor was developed for detection of L-histidine ( L-His). Single strand DNA containing poly-thymine ( T) sequences were synthesized by TdT in the presence of dTTP. In blank control, poly-T sequences worked as templates of CuNCs due to the affinity between thymine and copper ions( II) . Fluorescence intensity was enhanced when CuNCs formed with reducing agents. In the presence of L-His, the imidazolyl group of L-His worked as a chelating agent that formed L-His-Cu2+ chelated complex. Thus less copper ions were induced in poly-T sequences, and less CuNCs were obtained to produce week fluorescence signals. A good linear correlation was obtained between fluorescence change and the logarithm of the L-His concentration over the range of 5. 0 ×10-9-5. 0 ×10-4 mol/L. The detection limit was estimated as 3. 4 ×10-9 mol/L. And the recoveries were 97. 4%-104. 6% for the actual urine samples. Compared with other methods of synthetic CuNCs, this method allowed to specifically determining L-histidine without template or labeling, which showed good potential in biomedical and clinical analysis.

Objective:To analyze the genetic mutation characteristics of glucose-6-phosphate dehydrogenase (G6PD) deficiency among infants in Kunming.Methods:A total of 15 533 infants (7 994 males and 7 539 females) born in Kunming from January 1, 2018, to December 31, 2020, with an age range of 2 to 44 days, were selected. G6PD enzyme activity and gene mutation types were detected using fluorescence quantitative analysis, multicolor melting curve analysis (MMCA), and Sanger sequencing. Droplet digital PCR (ddPCR) was used for quantitative analysis of a newly identified variant family to determine the mutant allele proportion in family members. Meanwhile,the protein structure model and pathogenicity prediction of the novel variant were analyzed.Data analysis was conducted using SPSS 26.0. Specifically, chi-square tests were used for the detection rates of G6PD enzyme activity and gene mutations between different genders. One-way analysis of variance (ANOVA) was used for the comparison of enzyme activity among different mutation types.Results:Among 15 533 infants, 143 cases (129 males and 14 females) were tested positive for G6PD activity, with a detection rate of 0.92% (143/15 533). The difference in detection rates between males and females was statistically significant (χ 2=96.76, P<0.001). Out of 89 enzyme activity-positive cases (83 males and 6 females) underwent genetic testing, 77 (72 males and 5 females) were detected by MMCAand other 12 negative samples were underwent further Sanger sequencing, revealing mutations in 6 samples, all of which were males. Among the 83 individuals with gene mutations, 78 had heterozygous mutations, 1 had a homozygous mutation, and 4 had compound heterozygous mutations. A total of 12 mutation types were detected, with G6PD c.487G>A, c.1024C>T, c.1388G>A, and c.1376G>T being the most common, accounting for 74.70% (62/83) of all mutation types. The average G6PD enzyme activity of c.1376G>T was the lowest, and the differences were statistically significant compared to the average enzyme activity of the other three mutations ( P<0.05). One male infant with a newly identified G6PD c.242G>C mutation was detected, predicted to be pathogenic. ddPCR confirmed that the mother of the affected child was a c.242G>C mutant chimera, with a chimera proportion of 6.66%. Conclusions:In the Kunming region, the predominant G6PD deficiency gene mutation is c.487G>A, with the detection of a novel G6PD c.242G>C mutation. The application of ddPCR technology can assist in detecting the proportion of mutation chimeras.