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1.
World J Clin Cases ; 11(15): 3571-3577, 2023 May 26.
Article in English | MEDLINE | ID: mdl-37383908

ABSTRACT

BACKGROUND: Malignant melanoma (MM) has shown an increasing incidence worldwide, and a potential to metastasize to almost any part of the body. Clinically, MM with bone metastasis as the initial manifestation is extremely rare. Spinal metastatic MM can cause spinal cord or nerve root compression, resulting in severe pain and paralysis. Currently, the primary clinical treatments for MM are surgical resection in conjunction with chemotherapy, radiotherapy, and immunotherapy. CASE SUMMARY: Here, we report the case of a 52-year-old male who presented to the clinic with progressive low back pain and limited nerve function. No primary lesion or spinal cord compression was detected from computed tomography and magnetic resonance imaging of the lumbar vertebrae and positron emission tomography scan. A lumbar puncture biopsy confirmed the diagnosis of lumbar spine metastatic MM. Following surgical resection, the patient's quality of life improved, symptoms were relieved, and comprehensive treatment was initiated, which prevented recurrence. CONCLUSION: Spinal metastatic MM is clinically rare, and may cause neurological symptoms, including paraplegia. Currently, the clinical treatment plan consists of surgical resection in combination with chemotherapy, radiotherapy, and immunotherapy.

2.
Zhongguo Zhong Xi Yi Jie He Za Zhi ; 35(5): 608-11, 2015 May.
Article in Chinese | MEDLINE | ID: mdl-26159028

ABSTRACT

OBJECTIVE: To study possible mechanisms of Shangjuxu (ST37) and the large intestine. METHODS: Totally 40 SD rats were selected. The distension of end colon was used as injured afferent stimulus. Activities of locus coeruleus (LC) neurons were recorded by extracellular microelectrode technique. Shangjuxu (ST37) and Hegu (L14) were needled to observe general features of discharge reactions, distention of colon induced discharge reactions of LC, and its effects on distention of colon induced discharge reactions of LC. RESULTS: Distention of colon could induce incrased discharge of LC neurons by 127.33% ± 45.48%. But needling at Shangjuxu (ST37) and Hegu (L14) could inhibit this injured response by 38.24% ± 7.69% and 21.29% ± 13.16% respectively (all P < 0.01). CONCLUSIONS: Needling at Shangjuxu (ST37) and afferent signals of colon distension converged and interacted with each other. Needling at Shangjuxu (ST37) could significantly inhibit colon distension induced discharge of LC neurons, which might be one of mechanisms for Shangjuxu (ST37) and the large intestine relationship.


Subject(s)
Acupuncture Therapy , Locus Coeruleus/physiology , Animals , Colon , Intestine, Large , Neurons , Rats , Rats, Sprague-Dawley
3.
J Transl Med ; 11: 284, 2013 Nov 09.
Article in English | MEDLINE | ID: mdl-24206587

ABSTRACT

BACKGROUND: Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis. METHODS: By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL). We also used DNA from 56 Chinese familial patients with ARNSHL (autosomal recessive nonsyndromic hearing loss) and 108 ethnicity-matched negative samples to perform extended variants analysis. RESULTS: We identified MYO15A c.IVS25+3G>A and c.8375 T>C (p.V2792A) as the disease-causing mutations. Both mutations co-segregated with hearing loss in family 4794, but were absent in the 56 index patients and 108 ethnicity-matched controls. CONCLUSIONS: Our results demonstrated that the hearing loss of family 4794 was caused by novel compound heterozygous mutations in MYO15A.


Subject(s)
Exome , Genes, Recessive , Hearing Loss/genetics , Heterozygote , Mutation , Myosins/genetics , Sequence Analysis , Adult , Animals , Base Sequence , China , DNA/genetics , Female , Hearing Loss/physiopathology , Hearing Tests , Humans , Male , Molecular Sequence Data , Myosins/chemistry , Pedigree , Sequence Homology, Amino Acid , Sequence Homology, Nucleic Acid
4.
J Neurol Sci ; 335(1-2): 112-7, 2013 Dec 15.
Article in English | MEDLINE | ID: mdl-24090761

ABSTRACT

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive weakness and spasticity of the lower limbs, in complicated forms, with additional neurological signs. To identify the genotype and characterize the phenotype in a Chinese HSP family, ten subjects from the family were examined through detailed clinical evaluations, auxiliary examinations and genetic tests. Using a combined approach of whole-exome sequencing and candidate mutation validation, we identified novel compound heterozygous mutations in the SPG11 gene of the patients as follows: a nonsense mutation c.6856C>T (p.R2286X) in exon 38 and a deletion mutation c.2863delG (p.Glu955Lysfs*8) in exon 16. Both mutations co-segregated with the phenotype in this family and were absent in 100 normal Chinese individuals. Our finding suggests that the novel compound heterozygous mutations in SPG11 are associated with HSP. We were able to assess the future risk of HSP in healthy younger family members using genetic detection, and provide prenatal diagnoses for the family members. Furthermore, to some extent, this new finding enriches the information on SPG11 and may provide a new basis for the genetic diagnosis of HSP.


Subject(s)
Mutation/genetics , Proteins/genetics , Spastic Paraplegia, Hereditary/genetics , Adult , Asian People/genetics , Corpus Callosum/pathology , DNA Mutational Analysis , Exons/genetics , Family Health , Female , Genes, Recessive , Heterozygote , Humans , Magnetic Resonance Imaging , Male , Mental Status Schedule
5.
Zhen Ci Yan Jiu ; 38(1): 35-9, 2013 Feb.
Article in Chinese | MEDLINE | ID: mdl-23650798

ABSTRACT

OBJECTIVE: To observe the effect of electroacupuncture (EA) intervention on expression of phosphorylated mitogen activated protein kinase-P 38 (p-P 38 MAPK) protein and Interleukin 1beta (IL-1beta)mRNA in the frontal lobe and hippocampus in Alzheimer's disease (AD) rats so as to explore its mechanisms underlying improvement of AD in clinic. METHODS: Thirty-two SD rats were equally and randomly divided into normal control (normal), sham-operation (sham), model and EA groups. AD model was established by microinjection of Abeta(1-40) (10 microg/microL, 1 microL) into bilateral Meynert nucleus (AP: 1. 4 mm, L: 3 mm, H: 7 mm) and validated by water maze tests. Rats of the sham group were treated by microinjection of the same dose of normal saline into the bilateral Meynert Nucleus. EA (1 mA, 2 Hz) was applied to bilateral "Baihui" (GV 20), "Taixi" (KI 3) and "Zusanli" (ST 36) for 15 min, once daily for 12 sessions. Expression levels of p-P 38 MAPK protein and IL-1beta mRNA in the hippocampus and frontal lobe tissues were detected by Western blot and RT-PCR, respectively. RESULTS: In comparison with the normal group, the expression levels of p-P 38 MAPK protein and IL-1beta mRNA in the hippocampus and frontal lobe tissues were upregulated significantly in the model group (P < 0.01). After 12 sessions of EA intervention, the expression levels of both p-P 38 MAPK protein and IL-1beta mRNA were down-regulated significantly (P < 0.01, P < 0.05) in spite of being still higher than those of the normal group. No significant differences were found between the normal and sham groups in the expression levels of both p-P 38 MAPK protein and IL-1beta mRNA (P > 0.05). CONCLUSION: EA intervention can reduce the over expression of both p-P 38 MAPK protein and IL-1beta mRNA in the hippocampus and frontal cortex in AD rats, suggesting an improvement of AD after EA intervention by restraining the inflammatory reaction.


Subject(s)
Alzheimer Disease/therapy , Electroacupuncture , Frontal Lobe/metabolism , Hippocampus/metabolism , Interleukin-1beta/genetics , p38 Mitogen-Activated Protein Kinases/genetics , Acupuncture Points , Alzheimer Disease/enzymology , Alzheimer Disease/genetics , Alzheimer Disease/metabolism , Animals , Disease Models, Animal , Female , Hippocampus/enzymology , Humans , Interleukin-1beta/metabolism , Male , Phosphorylation , Rats , Rats, Sprague-Dawley , p38 Mitogen-Activated Protein Kinases/metabolism
6.
PLoS One ; 8(5): e63026, 2013.
Article in English | MEDLINE | ID: mdl-23690975

ABSTRACT

Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome sequencing in a family with two deaf siblings. Sanger sequencing confirmed that both siblings inherited a missense mutation, c.589G>A p.G197R (maternal allele), and a nonsense mutation, c.1171C>T p.Q391X (paternal allele), in TMC1. We also used DNA from 50 Chinese familial patients with ARNSHL and 208 ethnicity-matched negative samples to perform extended variants analysis. Both variants co-segregated in family 1953, which had the hearing loss phenotype, but were absent in 50 patients and 208 ethnicity-matched controls. Therefore, we concluded that the hearing loss in this family was caused by novel compound heterozygous mutations in TMC1.


Subject(s)
Asian People/genetics , Hearing Loss, Sensorineural/genetics , Heterozygote , Membrane Proteins/genetics , Membrane Proteins/metabolism , Pedigree , Adolescent , Amino Acid Sequence , Animals , Base Sequence , DNA Mutational Analysis , Exome/genetics , Female , Hearing Loss, Sensorineural/pathology , Hearing Loss, Sensorineural/physiopathology , Humans , Male , Membrane Proteins/chemistry , Mice , Molecular Sequence Data , Polymorphism, Genetic , Rats , Siblings , Young Adult
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