Recurrent intracerebral hemorrhage is a very serious cerebrovascular disease.Its incidence has shown a clear upward trend, and both disability and mortality have increased significantly compared to the first intracerebral hemorrhage. This article reviews the clinical classification, characteristics, risk factors, pathogenesis, and prognosis of recurrent intracerebral hemorrhage.

Moyamoya disease is a chronic progressive cerebrovascular disease. Its disability rate and lethality rate are higher. The direct and indirect revascularization can increase cerebral blood flow and reduce the occurrence of cerebral ischemia and cerebral hemorrhage. This article reviews the pathophysiological basis of its surgical treatment, surgical timing, indications, surgical treatment methods and efficacy.

OBJECTIVETo explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.

METHODSPCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant.

RESULTSFor the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein.

CONCLUSIONThe compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.

Amino Acid Sequence ; Base Sequence ; Carbon-Carbon Ligases ; chemistry ; deficiency ; genetics ; DNA Mutational Analysis ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Models, Molecular ; Mutation ; Neonatal Screening ; methods ; Protein Conformation ; Sequence Homology, Amino Acid ; Urea Cycle Disorders, Inborn ; diagnosis ; genetics

OBJECTIVETo explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).

METHODSPotential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.

RESULTSTwo novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.

CONCLUSIONThe novel mutations of MUT gene probably underlie the isolated MMA in this family.

Adult ; Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Pedigree ; Point Mutation ; Sequence Alignment

Objective: To investigate the clinical, biochemical and genetic features of four carnitine-acylcarnitine translocase deficiency cases. Methods: Four cases diagnosed with carnitine-acylcarnitine translocase deficiency from Guangxi Maternal and Child Health Hospital were studied. DNA was extracted from dry blood filter for gene analysis. SLC25A20 gene analysis was performed in 1 case and the whole exon sequence analysis was performed in 3 cases. Results: Retrospective study on unrelated carnitine-acylcarnitine translocase deficiency patients, the age of onset was 1-28 d, the age of death were 1.5-30 d, main clinical features were hypoglycemia (4 cases), arrhythmia (2 cases), sudden death (2 cases). Biochemical test showed hypoglycemia (1.2-2.0 mmol/L) , elevated creatine kinase (955-8 361 U/L) and creatine kinase isozyme(199-360 U/L), normal or decreased free carnitine level (3.70-27.07 μmol/L) , elevated long-chain acylcarnitine (palmityl carnitine 1.85-14.84 μmol/L). The gene tests showed that all 4 cases carried SLC25A20 gene c.199-10T> G homozygous mutation, inherited from their parents. By analyzing the haplotype, we found that the mutation loci of C. 199-10T> G were all in the same haplotype. Conclusion The c.199-10T> G mutation is an important molecular cause of carnitine-acylcarnitine translocase deficiency, which has relatively high frequency in Guangxi population, and is related to the founder effect.

Objective To investigate the characteristics of the phenylalanine hydroxylase( PAH)gene muta﹣tions in patients With phenylketonuria(PKU)in Guangxi region,in order to provide clinical data for genetic counseling and prenatal gene diagnosis. Methods Thirty－seven children diagnosed as PKU in the Maternal and Children＇s Hos﹣pital of Guangxi Zhuang Autonomous Region Were enrolled in the study betWeen January 2009 and December 2017. Ve﹣nous blood Was collected and the PAH gene sequence Was determined by Sanger sequencing after amplification With the polymerase chain reaction technique. The neW gene mutations Were defined based on the national and international literature revieW and databases. MeanWhile,100 healthy individuals Were selected as the control group for gene sequen﹣cing to confirm Whether the mutation Was a neW one. Results Thirty－seven cases of PKU Were detected for 68 muta﹣tions,With the detection rate being 91. 89%(68／74). Six mutations Were identified in exon 7,Which accounted for 31. 08% of all,exon 12(18. 92%),exon 8(10. 81%)and exon 6(10. 81%)folloWed. A total of 25 different muta﹣tions Were identified Which including 14 missense mutations(56. 00%),7 nonsense mutations(28. 00%),3 splicing junction mutations(12. 00%),and 1 deletion mutation(4. 00%). The most common mutations included c. 1223G＞A (p. R408Q),c. 728G＞A(p. R243Q)and c. 721C＞T( p. R241C),accounting for 14. 86%,13. 51%,and 10. 81%, respectively. After querying international databases,including PAH mutation database and Human Gene Mutation Data﹣base and forecasting softWare,three kinds of mutations c. 314C＞ T(p. T105I),c. 583A＞ G(p. K195E),c . 851G＞A(p. C284Y)Were verified as novel PAH gene mutations. Conclusions The mutation spectrum of the PAH gene in Guangxi has been identified. And 3 kinds of mutations have been identified. This may accumulate valuable information for gene diagnosis and prenatal diagnosis of PKU in Guangxi region.

The pathological mechanism of wound healing is complicated and affected by multiple factors. Modern wound dressings are widely used in the clinical management of wound healing and have achieved good therapeutic effects. Clinically, wounds are often caused by different etiologies. However, there are few reviews focus on the selection of reasonable dressings for different types of wounds. This study mainly focuses on the characteristics of commonly used wound dressings and summarizes the characteristics of the most commonly used wound dressings in clinical practice and their effects. The advantages and disadvantages of pathology wounds: diabetic foot ulcers, pressure injuries, burns, and leg ulcers are reviewed. This study aims to provide references for the development and clinical selection of wound dressings for scientific researchers and first-line nursing staff who are engaged in wound dressings.
Humans ; Bandages, Hydrocolloid ; Diabetic Foot/therapy* ; Wound Healing

Objective To analyze molecular characteristics of 5 congenital hypothyroidism (CH) patients due to dyshormonogenesis.Method We enrolled 5 CH patients due to dyshormonogenesis who were identified in Newborn Screening Center of Guangxi Zhuang Autonomous Region,China.Blood samples were collected from the patients and their parents,and genomic DNA was extracted from peripheral blood leukocytes.All exons of DUOX2,TG,TPO and NIS gene together with their exon-intron boundaries were screened by next-generation sequencing.Specimens from 100 normal controls were tested for these novel variations.Result No TPO,NIS or TG gene mutations were identified.Direct sequencing of the DUOX2 gene revealed that patient 1 had a compound heterozygote for c.3340delC and p.R683L,patient 2 was homozygous for p.K530X and patient 3 was a heterozygote for p.E879K.Both biallelic and monoallelic heterozygous mutations in DUOX2 were associated with transient CH.Novel mutations included c.3340delC and p.R683L,analysis of 100 healthy subjects without thyroid disease did not show the same change.Conclusion Genetic analysis of TPO,NIS,DUOX2 and TG gene in 5 unrelated CH patients with thyroid dyshormonogenesis revealed two novel DUOX2 mutations,both were biallelic and monoallelic heterozygous mutations in DUOX2 associated with transient CH.

Objective To investigate the expression of tissue signal transducer and activator of transcription 3(STAT3)and serum STAT3 mRNA,IL-12p40 and IL-13R α 2 levels in children with congenital intestinal atresia and their correlation with prognosis.Methods From January 2020 to January 2023,100 cases of intestinal atresia lesion tissues,normal intestinal tissues and preoperative serum samples were collected from children with congenital intestinal atresia who underwent treatment in Hebei Children's Hospital.According to the Grosfeld typing criteria,these children were categorized into 39 cases of type Ⅰ,22 cases of type Ⅱ,30 cases of type Ⅲ and 9 cases of type Ⅳ.Based on the recovery situation at 6 months after surgery,these children were separated into a good prognosis group(n=78)and a poor prognosis group(n=22).Serum samples from 93 cases of healthy children undergoing medical examinations during the same period were regarded as control samples.Immunohistochemistry was applied to detect the positive expression and localization of STAT3 in tissues.Western blot was applied to detect the expression of STAT3 protein in tissues,and quantitative polymerase chain reaction(qPCR)was applied to detect the expression level of STAT3 mRNA in serum.Pearson correlation was applied to analyze the correlation between serum STAT3 and inflammatory factor levels in children with congenital intestinal atresia.Logistic regression was used to analyze the factors affecting the prognosis of children with congenital intestinal atresia.Receiver operating characteristic(ROC)curve was applied to analyze the predictive efficacy of serum STAT3 level on the prognosis of children with congenital intestinal atresia.Results Immunohistochemical results showed that STAT3 positive expression was mainly localized in the cytoplasm and nucleus.The positive expression rate in congenital intestinal atresia tissue(86％)was higher than that in normal intestinal tissue(18％),and the difference was significant(x2=92.628,P＜0.05).Western blot results showed that the relative expression level of STAT3 in congenital intestinal atresia tissue(1.59±0.21)was higher than that in normal intestinal tissue(0.81±0.12),and the difference was significant(t=30.567,P＜0.05).The results of qPCR showed that serum STAT3(2.13±0.56),IL-12p40(0.89±0.13 ng/ml),and IL-13R α 2 levels(6.42±1.86ng/ml)in the congenital intestinal atresia group were higher than those in the control groups(1.06±0.11,0.37±0.08ng/ml,1.35±0.41ng/ml),and the differences were significant(t=18.101,33.170,25.708,all P＜0.05).The levels of STAT3 and IL-12p40,IL-13R α 2 were gradually increased with the increase of the children's subtypes,and the differences were significant(F=52.666,160.300,25.82,all P＜0.05).Pearson correlation analysis showed a positive correlation between serum STAT3,IL-12p40,and IL-13R α 2 levels in children with congenital intestinal atresia(r=0.496,0.564,all P＜0.001).The expression level of serum STAT3 in poor prognosis group(3.01±0.75)was higher than that in good prognosis group(1.88±0.51),and the differences was statistically significant(t=8.212,P＜0.05).Logistic regression showed that STAT3,IL-12p40,IL-13R α 2,and low birth quality were all independent risk factors for poor prognosis in children with congenital intestinal atresia(all P＜0.05).The ROC curve showed that the area under the curve(AUC)for evaluating the prognosis of children with congenital intestinal atresia by serum STAT3 expression was 0.916,with a sensitivity of 81.82％and a specificity of 88.46％,respectively.When the serum STAT3 mRNA level was higher than 2.47,children with congenital intestinal atresia had a higher probability of poor prognosis.Conclusion The expression of STAT3 is increased in the tissues and serum of children with congenital intestinal atresia.Serum STAT3 may have a predictive value for the prognosis of affected children.

Objective:To investigate associations of serum low-density lipoprotein cholesterol (LDL-C) with hematoma enlargement, early neurological deterioration (END), and outcome in patients with acute spontaneous intracerebral hemorrhage (ICH).Methods:"A multi-center registration study for spontaneous intracerebral hemorrhage in Inner Mongolia" (registration number: ChiCTR2000029494) database was used to include patients with ICH who completed their first head CT scan within 6 hours after onset, underwent blood lipid examination, CT follow-up within 24 hours of onset, and accurately measured hematoma volume using 3D Slicer software between June 2020 and September 2022. HE was defined as hematoma volume increasing >33% or >6 ml at 24 hours, or ventricular hematoma volume increasing ≥1 ml compared to the baseline. END was defined as an increase of ≥4 in the National Institutes of Health Stroke Scale (NIHSS) score from the baseline or death within 24 hours after onset. The follow-up was conducted at 3 months after onset, and the modified Rankin Scale score >2 was defined as poor outcome. Multivariate logistic analysis was used to determine the independent correlation between LDL-C and HE, END, and outcome. Results:A total of 338 patients with ICH were enrolled, including 206 males (60.9%). LDL-C was 2.39±1.22 mmol/L. Eighty-eight patients (26.0%) developed HE, 67 (19.8%) developed END, and 162 (47.9%) had poor outcome at 3 months. Multivariate logistic analysis showed that after adjusting for confounding factors, there was a significant independent negative correlation between LDL-C and HE (odds ratio 0.312, 95% confidence interval 0.208-0.467; P<0.001) and END (odds ratio 0.408, 95% confidence interval 0.275-0.606; P<0.001), but not with the outcome at 3 months. Conclusion:Lower LDL-C is associated with HE and END in patients with ICH, but not with the outcome.