Objective:To investigate the etiology, clinical manifestations, treatment methods, and prognosis of patients with iliopsoas muscle hematoma compressing the lumbar plexus.Methods:The clinical data of 11 cases of iliopsoas muscle hematoma oppressing the lumbar plexus nerve admitted to The Affiliated Hospital of Southwest Medical University between March 2014 and May 2018 were analyzed.Results:Eleven patients, consisting of 10 men and 1 woman, aged (36.36 ± 6.74) years were analyzed. Causes of iliopsoas muscle hematoma oppressing the lumbar plexus nerve included coagulation abnormality ( n = 8) and trauma ( n = 3). Iliopsoas muscle hematoma occurred on the left side in 7 cases and on the right side in 4 cases. Among them, 11 cases had bleeding in the middle area, 8 cases in the lower area, and 2 cases in the upper area. The involved lumbar plexus nerve included the femoral nerve ( n = 11), lateral femoral cutaneous nerve ( n = 6), and obturator nerve ( n = 2). Eleven cases underwent causative treatment ( n = 11). Three-month follow-up results showed that the hematomas were completely absorbed in 11 cases, and the bone and joint activities were normal. The sensory and motor functions were restored in 10 cases. The sensory function was restored, but the recovery of motor function was poor in 1 patient. All 11 cases returned to normal after 1 year. Conclusion:The main causes of iliopsoas muscle hematoma are coagulation dysfunction and trauma. The femoral nerve and lateral femoral cutaneous nerve in the lumbar plexus are easily affected, which can cause lower limb sensory and motor disorders. As for iliopsoas muscle hematoma caused by coagulation abnormality, coagulation factors should be supplemented to correct coagulation function. As for iliopsoas muscle hematoma caused by trauma, early surgical treatment should be performed to relieve nerve compression. Timely treatment of iliopsoas muscle hematoma can generally acquire a good prognosis.

Objective:To analyze the efficacy and safety of ultrasound-guided intercostal nerve pulse radiofrequency combined with nerve block in the treatment of post-herpetic neuralgia.Methods:The clinical data of 62 patients with post-herpetic neuralgia who received treatment in The Affiliated Hospital of Southwest Medical University from May 2017 to May 2021 were retrospectively analyzed. These patients underwent nerve block (NB group, n = 30) or pulsed radiofrequency plus nerve block (PRF + NB group, n = 32). Before and after treatment, The Numerical Rating Scale (NRS) score and Pittsburgh Sleep Quality Index (PSQI) score were compared between the two groups. After treatment, the occurrence of complications including pneumothorax, infection, and skin numbness was evaluated in each group. Results:Before treatment, there were no significant differences in NRS and PSQI scores between the two groups (all P > 0.05). Immediately, 1 week and 1 month after treatment, there was no significant difference in PSQI score between the two groups (all P > 0.05). At 3 and 6 months after treatment, the NRS score in the NB +PRF group was (1.71 ± 0.35) points and (1.68 ± 0.36) points, which were significantly lower than (2.72 ± 0.68) points and (3.26 ± 0.76) points in the NB group ( t = 54.40, 78.18, both P < 0.05). There were no treatment-related complications such as pneumothorax, infection, nerve numbness, or muscle weakness in the two groups. Conclusion:Ultrasound-guided pulsed radiofrequency combined with nerve block has a definite curative effect on post-herpetic neuralgia and is highly safe. The medium- and long-term efficacy of the combined therapy is superior to that of nerve block alone.

Objective To observe the effect of Shenqi Fuzheng injection combined with chemotherapy on reducing the side effects of malignant tumor chemotherapy. Methods Eighty cancer patients in Traditional Chinese Medicine Hospital of PLA General Hospital from January 2015 to March 2017 were randomly divided into treatment group and control group by using random number table method, each group contained 40 cases. The patients in the treatment group were given Shenqi Fuzheng injection combined with chemotherapy, while the control group used chemotherapy only. Results The incidence of WBC and Plt reduction in the treatment group [35.0 % (14/40), 32.5 % (13/40)] was lower than those in the control group [70.0 % (28/40), 57.5 % (23/40)], and the differences were statistically significant (χ 2= 9.825, P = 0.002;χ2=5.051, P=0.025). The incidence rates of digestive tract reaction and oral ulcers[52.5 %(21/40), 32.5 % (13/40)]were lower than those in the control group[75.0 %(30/40), 60.0 %(24/40)], and the differences were statistically significant (χ2= 4.381, P = 0.036; χ2= 6.084, P = 0.014). The quality of life in the treatment group was significantly improved compared with the control group [(51.4 ±5.1) points vs. (48.3±5.5) points], and the difference was statistically significant(t =2.595,P =0.011). Conclusions Shenqi Fuzheng injection combined with chemotherapy can reduce chemotherapy-induced side effects and improve the life quality of the patients.The injection can be used as the adjuvant therapy for chemotherapy in clinic application.

OBJECTIVE: To describe the clinical and genetic characteristics of a child with 14q12q13.1 deletion involving the FOXG1 gene. METHODS: Clinical manifestation of the child was analyzed. Peripheral blood sample of the patient was subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis. RESULTS: The male infant has developed feeding difficulty, poor sucking, lower limb tremor, and frontal bruising 8 days after birth. Magnetic resonance imaging revealed significant enlargement of bilateral ventricles and corpus callosum dysplasia. Chromosomal analysis revealed a karyotype of 46,XY,del(14)(q12q13.1), and SNP-array confirmed that there was a 9.6 Mb deletion in 14q11.2q13.1, which encompassed the FOXG1 gene. CONCLUSION For patients with brain development abnormalities, dyskinesia, cognitive impairment, speech disorder and other manifestations, copy number variation of the FOXG1 gene should be excluded. SNP-array should be carried out as early as possible to attain the diagnosis.
Child ; Chromosome Deletion ; DNA Copy Number Variations ; Forkhead Transcription Factors/genetics* ; Heterozygote ; Humans ; Infant ; Karyotyping ; Male ; Nerve Tissue Proteins/genetics* ; Polymorphism, Single Nucleotide

OBJECTIVE: To explore the clinical and genetic features of a child with autosomal dominant mental retardation type 40 (MRD40) due to variant of the CHAMP1 gene. METHODS: Clinical characteristics of the child were analyzed. Genetic testing was carried out by low-depth high-throughput and whole genome copy number variant sequencing (CNV-seq) and whole exome sequencing (WES). A literature review was also carried out for the clinical phenotype and genetic characteristics of patients with MRD40 due to CHAMP1 gene variants. RESULTS: The child, a 11-month-old girl, has presented with intellectual and motor developmental delay. CNV-seq revealed no definite pathogenic variants. WES has detected the presence of a heterozygous c.1908C>G (p.Y636*) variant in the CHAMP1 gene, which was carried by neither parent and predicted to be pathogenic. Literature review has identified 33 additional children from 12 previous reports. All children had presented with developmental delay and mental retardation, and most had dystonia (94.1%), delayed speech and/or walking (85.2%, 82.4%) and ocular abnormalities (79.4%). In total 26 variants of the CHAMP1 gene were detected, with all nonsense variants being of loss-of-function type, located in exon 3, and de novo in origin. CONCLUSION The heterozygous c.1908C>G (p.Y636*) variant of the CHAMP1 gene probably underlay the WRD40 in this child. Genetic testing should be considered for children featuring global developmental delay, mental retardation, hypertonia and facial dysmorphism.
Humans ; Intellectual Disability/genetics* ; Genetic Testing ; Phenotype ; Exome Sequencing ; Heterozygote ; Mutation ; Chromosomal Proteins, Non-Histone/genetics* ; Phosphoproteins/genetics*

Objective:To detect and analyze the gene variation types of 64 unrelated pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD), and explore the detection efficiency of multiple gene analysis techniques and variation characteristics.Methods:It was a cross-sectional study. The clinical data of 64 pedigrees with ADPKD from Nephrology Department or Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from December 2017 to August 2020 were retrospectively analyzed. The blood samples of probands and other family members were collected. Genetic analysis was carried out by next generation sequencing, and suspected mutations were verified by multiplex ligation-dependent probe amplification, or long-range PCR combined with Sanger sequencing. Prenatal diagnosis for high-risk fetuses was performed by fetal villi or amniotic fluid cells after genotyping without maternal genomic DNA contamination.Results:Among detected 64 pedigrees, 57 pedigrees (89.06%) had genetic variants in PKD1/PKD2. A total of 49 pathogenic/likely pathogenic variants in PKD1/PKD2 were identified in 51 pedigrees (79.69%), including 14 nonsense variants (28.57%), 14 frameshift variants (28.57%), 11 missense variants (22.45%), 5 splicing variants (10.20%) and 5 deletion variants (10.20%). Of these variants, 87.76% (43/49) were in PKD1 and 12.24% (6/49) were in PKD2. Totally, 14 novel variants in PKD1/ PKD2 were identified, including 7 frameshift variants, 3 splicing variants, 2 nonsense variants, 1 deletion variant and 1 missense variant, of which 11 variants were in PKD1 and 3 variants were in PKD2. Twenty high-risk fetuses from 17 pedigrees received prenatal diagnosis, in whom 6 fetuses had PKD1 variation, and other 14 fetuses had no PKD1/ PKD2-genetic variation. Conclusions:The combination of next-generation sequencing, multiplex ligation-dependent probe amplification, and long-range PCR combined with Sanger sequencing can be helpful for rapid, efficient and accurate genetic diagnosis of ADPKD pedigrees. Point mutations are the most common types in PKD1/PKD2. Fourteen novel variants in PKD1/PKD2 extend its pathogenic variant spectrum and can provide basis for genetic counseling and prenatal diagnosis of ADPKD pedigrees.

Objective:To investigate the predictive value of thrombus permeability for poor outcome and symptomatic intracranial hemorrhage (sICH) after endovascular therapy (EVT) in patients with middle cerebral artery occlusion stroke.Methods:Patients with middle cerebral artery occlusion stroke underwent EVT at the Cardiocerebrovascular Disease Hospital, the Affiliated Hospital of Yan'an University from January 2018 to January 2024 were included retrospectively. Thrombus attenuation increase (TAI) was used to evaluate thrombus permeability. The poor outcome was defined as a modified Rankin Scale score >2 at 90 days after procedure. sICH was defined as an increase of ≥4 of the National Institutes of Health Stroke Scale (NIHSS) score relative to baseline or lowest within 7 days after EVT, and CT scan showed cerebral hemorrhage. Multivariate logistic regression analysis was used to determine the independent influencing factors of poor outcome and sICH. Receiver operating characteristic (ROC) curves was used to evaluate the predictive value of TAI for poor outcome and sICH. Results:A total of 77 patients with middle cerebral artery occlusion stroke received EVT treatment were enrolled, including 44 males (57.1%), aged 62.1±12.4 years. Thirty-three patients (48.1%) had poor outcome, 35 (45.5%) experienced hemorrhagic transformation, of which 12 (15.6%) were sICH. Multivariate logistic regression analysis showed that TAI (odds ratio [ OR] 0.930, 95% confidence interval [ CI] 0.883-0.980; P=0.007) and sICH ( OR 0.868, 95% CI 0.784-0.961; P=0.006) were the independent influencing factors of poor outcome. ROC curve analysis showed that the area under the curve of TAI for predicting poor outcome at 90 days was 0.836 (95% CI 0.742-0.930). The cut-off value was 10.135 HU. The sensitivity and specificity were 73.0% and 92.5%, respectively. The area under the curve of TAI for predicting sICH was 0.750 (95% CI 0.637-0.902). The cut-off value was 18.200 HU. The sensitivity and specificity were 94.1% and 64.5%, respectively. Conclusions:TAI has certain predictive value for poor outcome and sICH after EVT in patients with middle cerebral artery occlusion stroke. Patients with higher thrombus permeability are less likely to develop sICH after EVT and have a higher likelihood of good outcome.

OBJECTIVE: To explore the genetic basis for a Chinese patient suspected for Canavan disease. METHODS: Whole exome sequencing (WES) was carried out for the proband, and candidate variants were verified by Sanger sequencing of the proband, her parents and brother. Prenatal diagnosis was provided to her mother by chorionic villi sampling (CVS) upon her subsequent pregnancy. RESULTS: The proband, a 4-month-old female infant, had manifested drowsiness, hypotonia and apathy. Urine metabolism screening showed elevated N-acetylaspartic acid. Cranial magnetic resonance imaging revealed abnormal myelination and multiple abnormal signals in large brain areas. WES revealed that the proband has harbored compound heterozygous variants of the ASPA gene, namely c.187A>G (p.Arg63Gly) in exon 1 and c.634+1G>A (P.?) in exon 4. Sanger sequencing confirmed that the c.187A>G (p.Arg63Gly) and c.634+1G>A (p.?) variants were respectively inherited from her mother and father. Her phenotypically normal brother has carried a heterozygous c.634+1G>A (p.?) variant. Prenatal diagnosis by CVS indicated that the fetus was a heterozygous carrier of the c.187A>G variant. CONCLUSION WES can facilitate the diagnosis of Canavan disease, particularly for those lacking specific phenotypes of the disease. The compound heterozygous variants of the ASPA gene probably underlay the Canavan disease in this patient, and the result has enabled prenatal diagnosis for this family.
Canavan Disease/genetics* ; China ; Female ; Humans ; Male ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for revealing the genetic etiology of fetuses with isolated ventricular septal defect (VSD). METHODS: From December 2017 to December 2020, 69 fetuses with isolated VSD were identified at the First Affiliated Hospital of Zhengzhou University. Meanwhile, 839 similar prenatal cases were selected from public databases including Wanfang data, Wanfang Medicine, and China National Knowledge Infrastructure (CNKI) by using keywords such as "Ventricular septal defect", "Copy number variation", and "Prenatal". A total of 908 fetuses with isolated VSD were analyzed. CNV-seq was carried out for 69 fetuses. RESULTS: Among the 908 fetuses, 33 (3.63%) were found to harbor pathogenic CNVs, which included 11 chromosomal aneuploidies (1.21%) and 22 pathogenic CNVs (2.42%). The pathogenic CNVs have involved 12 genetic syndromes, with those known to involve the heart development including 5 cases of 22q11.21 deletion syndrome, 2 cases of 4q terminal deletion syndrome, and 1 case of 9q subtelomere deletion syndrome. The outcome of pregnancies for 15 fetuses with pathogenic CNVs was known, of which 12 were terminated, and 3 had spontaneous closure of the ventricular septum after birth, but 1 of them had other abnormalities. CONCLUSION Fetuses with isolated VSD have a relatively high risk for chromosomal abnormalities, for which CNV-seq should be recommended.
Female ; Pregnancy ; Humans ; DNA Copy Number Variations ; Heart Septal Defects, Ventricular/genetics* ; 22q11 Deletion Syndrome ; Fetus

The components of the tumor microenvironment have a complex composition and play an important regulatory role in tumor evolution.The extracellular matrix(ECM)serves as a vital mediator in regulating cancer advancement within the TME.Incorporating ECM into tumor modeling allows for a more comprehensive simulation of the TME in vitro.As a medium for organoid growth,the matrix gel fulfills the functions of ECM.ECM is normally derived from the recombinant basement membrane of mouse sarcoma(Matrigel);however,batch-to-batch variations in Matrigel affect experiment reproducibility.To overcome such issues,researchers have designed synthetic matrix gels.This paper provides an overview of the current research in the application of matrix gels for tumor organoid modeling,offering insights for continuous optimization of organoid culture,thereby achieving more efficient and cost-effective organoid construction and advancing the translation of basic research to clinical applications.