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1.
Article in English | WPRIM | ID: wpr-971397

ABSTRACT

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.


Subject(s)
Humans , Male , Female , Child , Infant , Intellectual Disability/genetics , Mental Retardation, X-Linked/pathology , Obesity/complications , Hypogonadism/pathology
2.
Chinese Journal of Neurology ; (12): 374-384, 2023.
Article in Chinese | WPRIM | ID: wpr-994843

ABSTRACT

Objective:To summarize the clinical manifestations, gene variations,and treatment of cases with SPTAN1 gene variations characterized by global developmental delay or epileptic encephalopathy. Methods:Three patients with SPTAN1 gene mutations which caused developmental epileptic encephalopathy type 5 admitted to the Department of Pediatrics, Xiangya Hospital, Central South University from August 2019 to September 2021 were collected. The studies till December 2021 were searched with keywords of " SPTAN1" and "developmental and epileptic encephalopathy 5" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical manifestations, genetic variations, treatments and prognosis of patients with SPTAN1 gene variations were summarized. Results:All 3 patients presented with global developmental delay, infant onset. Patient 1 showed early-onset epileptic encephalopathies and microcephaly. Patient 2 had an atrial septal defect. Cranial magnetic resonance imaging (MRI) of patient 3 showed cerebellar hypoplasia.Antiepileptic seizure therapy was partially effective, but failed to control the spasm. Development was slightly improved after rehabilitation training and other treatments, but still lagged behind the children of the same age. The SPTAN1 gene mutations of the 3 cases were heterozygous mutations, c.6923_6928dup, c.6619_6621delGAG and c.6749T>C, respectively. c.6749T>C was not reported in the previous literature. Thirteen case reports, including 69 patients, were collected. Sixty-seven patients had heterozygous mutations, inherited in an autosomal dominant fashion, including 35 missense mutations, 12 deletion mutations, 11 repetition mutations, 9 nonsense mutations, and the rest 2 patients had compound heterozygous missense mutations. A total of 38 different variation sites were reported. The phenotypes of 69 patients from the previous studies mainly included intellectual impairment (32/69), seizures (30/69), developmental delay (28/69), progressive microcephaly (27/69), hypotonia (23/69), poor visual attention (15/69), spastic quadriplegia (9/69), and gastrointestinal abnormalities (7/69). The primary type of seizures was epileptic spasm. Cranial MRI abnormalities mainly included cerebellar and brainstem atrophy, corpus callosum dysplasia, myelin dysplasia, and brain atrophy. Previous reports showed that a variety of anti-seizure drugs were effective for epileptic seizures. The prognosis varied greatly. Severe cases could be fatal, and mild cases only manifested as mild mental retardation or movement disorders. Conclusions:SPTAN1 gene mutation leads to developmental epileptic encephalopathy type 5, the phenotypes of which include intellectual impairment, global developmental delay, infantile spasms, and head deformity.Antiepileptic drugs and functional training can improve the symptoms, but the prognosis is still poor. This study expands the SPTAN1 gene variant spectrum, enriches the mutant spectrum of SPTAN1 gene associated with developmental epileptic encephalopathy type 5.

3.
Article in Chinese | WPRIM | ID: wpr-989995

ABSTRACT

Infantile spasms syndrome (ISs) is a kind of catastrophic epileptic encephalopathy.Epileptic spasms originating in infancy or early childhood, typically accompanied by an electroencephalographic pattern of hypsarrhythmia, and developmental regression are common clinical manifestations.ISs prognosis is primarily determined by its etiology.In recent years, the rapid development of neuroimaging and genetic detection technology has greatly enriched the etiological spectrum of ISs, especially the genetic-related etiology.Likewise, the etiological categorization of ISs has gotten increasingly specific in response to clinical demands.Despite these advances, the etiology of ISs remains complicated and variable, with around one-third of children having unidentified causes.Consequently, more detection methods and studies are still needed to identify other potential etiologies.The etiologic categorization of ISs will be evaluated in this article.

4.
Journal of Integrative Medicine ; (12): 184-193, 2023.
Article in English | WPRIM | ID: wpr-971653

ABSTRACT

OBJECTIVE@#Physical exercise, a common non-drug intervention, is an important strategy in cancer treatment, including hepatocellular carcinoma (HCC). However, the mechanism remains largely unknown. Due to the importance of hypoxia and cancer stemness in the development of HCC, the present study investigated whether the anti-HCC effect of physical exercise is related to its suppression on hypoxia and cancer stemness.@*METHODS@#A physical exercise intervention of swimming (30 min/d, 5 d/week, for 4 weeks) was administered to BALB/c nude mice bearing subcutaneous human HCC tumor. The anti-HCC effect of swimming was assessed in vivo by tumor weight monitoring, hematoxylin and eosin (HE) staining, and immunohistochemistry (IHC) detection of proliferating cell nuclear antigen (PCNA) and Ki67. The expression of stemness transcription factors, including Nanog homeobox (NANOG), octamer-binding transcription factor 4 (OCT-4), v-Myc avian myelocytomatosis viral oncogene homolog (C-MYC) and hypoxia-inducible factor-1α (HIF-1α), was detected using real-time reverse transcription polymerase chain reaction. A hypoxia probe was used to explore the intratumoral hypoxia status. Western blot was used to detect the expression of HIF-1α and proteins related to protein kinase B (Akt)/glycogen synthase kinase-3β (GSK-3β)/β-catenin signaling pathway. The IHC analysis of platelet endothelial cell adhesion molecule-1 (CD31), and the immunofluorescence co-location of CD31 and desmin were used to analyze tumor blood perfusion. SMMC-7721 cells were treated with nude mice serum. The inhibition effect on cancer stemness in vitro was detected using suspension sphere experiments and the expression of stemness transcription factors. The hypoxia status was inferred by measuring the protein and mRNA levels of HIF-1α. Further, the expression of proteins related to Akt/GSK-3β/β-catenin signaling pathway was detected.@*RESULTS@#Swimming significantly reduced the body weight and tumor weight in nude mice bearing HCC tumor. HE staining and IHC results showed a lower necrotic area ratio as well as fewer PCNA or Ki67 positive cells in mice receiving the swimming intervention. Swimming potently alleviated the intratumoral hypoxia, attenuated the cancer stemness, and inhibited the Akt/GSK-3β/β-catenin signaling pathway. Additionally, the desmin+/CD31+ ratio, rather than the number of CD31+ vessels, was significantly increased in swimming-treated mice. In vitro experiments showed that treating cells with the serum from the swimming intervention mice significantly reduced the formation of SMMC-7721 cell suspension sphere, as well as the mRNA expression level of stemness transcription factors. Consistent with the in vivo results, HIF-1α and Akt/GSK-3β/β-catenin signaling pathway were also inhibited in cells treated with serum from swimming group.@*CONCLUSION@#Swimming alleviated hypoxia and attenuated cancer stemness in HCC, through suppression of the Akt/GSK-3β/β-catenin signaling pathway. The alleviation of intratumoral hypoxia was related to the increase in blood perfusion in the tumor. Please cite this article as: Xiao CL, Zhong ZP, Lü C, Guo BJ, Chen JJ, Zhao T, Yin ZF, Li B. Physical exercise suppresses hepatocellular carcinoma progression by alleviating hypoxia and attenuating cancer stemness through the Akt/GSK-3β/β-catenin pathway. J Integr Med. 2023; 21(2): 184-193.


Subject(s)
Humans , Animals , Mice , Carcinoma, Hepatocellular/drug therapy , Proto-Oncogene Proteins c-akt/metabolism , Proliferating Cell Nuclear Antigen/therapeutic use , Mice, Nude , Glycogen Synthase Kinase 3 beta/genetics , beta Catenin/therapeutic use , Liver Neoplasms/drug therapy , Desmin/therapeutic use , Ki-67 Antigen , Cell Line, Tumor , Hypoxia , RNA, Messenger/therapeutic use , Cell Proliferation
5.
Article in Chinese | WPRIM | ID: wpr-971040

ABSTRACT

OBJECTIVES@#To study the factors influencing the short-term (28 days) efficacy of initial adrenocorticotropic hormone (ACTH) therapy for infantile epileptic spasms syndrome (IESS), as well as the factors influencing recurrence and prognosis.@*METHODS@#The clinical data were collected from the children with IESS who received ACTH therapy for the first time in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from April 2008 to January 2018 and were followed up for ≥2 years. The multivariate logistic regression analysis was used to evaluate the factors influencing the short-term efficacy of ACTH therapy, recurrence, and long-term prognosis.@*RESULTS@#ACTH therapy achieved a control rate of seizures of 55.5% (111/200) on day 28 of treatment. Of the 111 children, 75 (67.6%) had no recurrence of seizures within 12 months of follow-up. The possibility of seizure control on day 28 of ACTH therapy in the children without focal seizures was 2.463 times that in those with focal seizures (P<0.05). The possibility of seizure control on day 28 of ACTH therapy in the children without hypsarrhythmia on electroencephalography on day 14 of ACTH therapy was 2.415 times that in those with hypsarrhythmia (P<0.05). The possibility of recurrence within 12 months after treatment was increased by 11.8% for every 1-month increase in the course of the disease (P<0.05). The possibility of moderate or severe developmental retardation or death in the children without seizure control after 28 days of ACTH therapy was 8.314 times that in those with seizure control (P<0.05). The possibility of moderate or severe developmental retardation or death in the children with structural etiology was 14.448 times that in those with unknown etiology (P<0.05).@*CONCLUSIONS@#Presence or absence of focal seizures and whether hypsarrhythmia disappears after 14 days of treatment can be used as predictors for the short-term efficacy of ACTH therapy, while the course of disease before treatment can be used as the predictor for recurrence after seizure control by ACTH therapy. The prognosis of IESS children is associated with etiology, and early control of seizures after ACTH therapy can improve long-term prognosis.


Subject(s)
Child , Humans , Infant , Adrenocorticotropic Hormone/therapeutic use , Spasms, Infantile/drug therapy , Treatment Outcome , Seizures , Electroencephalography/adverse effects , Spasm/drug therapy
6.
Article in Chinese | WPRIM | ID: wpr-982749

ABSTRACT

Objective:To investigate the effect of posterior nasal neurectomy(PNN) with pharyngeal neurectomy (PN) on chronic sinusitis with nasal polyps (CRSwNP)complicated with perennial allergic rhinitis (PAR). Methods:83 patients with perennial allergic rhinitis combined with chronic group-wide sinusitis with nasal polyps who attended our hospital from July 2020 to July 2021 were selected. All patients underwent conventional functional endoscopic sinusitis surgery(FESS)+ nasal polypectomy. Patients were divided according to whether they underwent PNN+PN. 38 cases in the experimental group underwent FESS combined with PNN+PN; 44 cases in the control group underwent conventional FESS alone. All patients underwent the VAS, RQLQ, and MLK before treatment, and at 6 months and 1 year after surgery. Meanwhile, other relevant data were collected and the preoperative and postoperative follow-up data were collected and analyzed to assess the differences between the two groups. Results:The total postoperative follow-up period was 1 year. The recurrence rate of nasal polyps at 1 year postoperatively and the nasal congestion VAS score at 6 months postoperatively were not statistically significant in the two groups(P>0.05). However, the patients in the experimental group had statistically significantly lower effusion and sneezing VAS scores, MLK endoscopy scores and RQLQ scores at 6 months and 1 year postoperatively, and nasal congestion VAS scores at 1 year postoperatively compared to the control group(P<0.05). Conclusion:For patients with perennial AR complicated with CRSwNP, the combination of the PNN+PN in FESS can significantly improve the short-term curative effect, and PNN+PN is a safe and effective surgical treatment.


Subject(s)
Humans , Nasal Polyps/surgery , Rhinitis, Allergic/surgery , Sinusitis/surgery , Rhinitis, Allergic, Perennial , Endoscopy , Denervation , Chronic Disease , Rhinitis/complications
7.
Article in English | WPRIM | ID: wpr-962094

ABSTRACT

Summary@#Eosinophilic granulomatosis with polyangiitis (EGPA), or Churg-Strauss Syndrome (CSS) is a rare granulomatous necrotizing vasculitic disease characterized by the presence of asthma, sinusitis, and hypereosinophilia. We describe a patient who was initially diagnosed with tuberculous lymphadenitis and later diagnosed with EGPA.


Subject(s)
Granulomatosis with Polyangiitis , Tuberculosis, Cutaneous , Tuberculosis, Lymph Node
8.
Journal of Chinese Physician ; (12): 1454-1459, 2022.
Article in Chinese | WPRIM | ID: wpr-956321

ABSTRACT

Myasthenia gravis (MG) is an autoimmune disease with neuromuscular junction (NMJ) transmission disorder mediated by various antibodies, dependent on cellular immunity, and involved in complement and cytokines. MG is one of the common diseases in pediatric neurology, which is different from adult MG in diagnosis and treatment. However, there is still a lack of accurate and efficient diagnosis and treatment plan for pediatric MG. In recent years, with the development of pathogenesis, targeted diagnosis and treatment of NMJ transmission disorders caused by immune network disorders in immunopathology and pathogenic antibodies is the current main research direction. This article reviews the progress of auxiliary examination and treatment of MG in children.

9.
Journal of Chinese Physician ; (12): 1449-1453, 2022.
Article in Chinese | WPRIM | ID: wpr-956320

ABSTRACT

Objective:To explore the clinical immune manifestations and high risk factors of children with neuropsychiatric systemic lupus erythematosus (NPSLE), so as to find the basis for early clinical differential diagnosis, prevention and treatment of NPSLE.Methods:Ninety-four children with systemic lupus erythematosus (SLE) admitted to Hunan Children′s Hospital from January 1, 2015 to April 30, 2022 were retrospectively selected. Among them, 19 children with NPSLE were in the NPSLE group, and 75 children without NPSLE were in the SLE group. The disease activity, immune system, lymphocyte subsets, inflammatory factors and autoantibodies were compared between the two groups.Results:Among 94 children with SLE, the incidence of NPSLE was 20.21%(19/94). The most common symptoms of 19 children with NPSLE were headache, epileptic seizure and cerebrovascular disease. The Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)-2000 score was (19.89±8.33)points. Most of them had a good prognosis through hormone intervention. Compared with the SLE group, NPSLE group had higher SLEDAI-2000 score, white blood cell count, urine protein, erythrocyte sedimentation rate (ESR), interferon (IFN)-α, positive rate of anti-Sm antibody and anticardiolipin antibody, lower platelet count, interleukin-2 (IL-2), C 3, C 4 level (all P<0.05), while there was no significant difference in positive rate of anti-dsDNA antibody and anti-SSA antibody between the two group (both P>0.05). Conclusions:Compared with SLE children, children with NPSLE are often complicated with many kinds of abnormal immune function, mainly abnormal humoral immune function and many kinds of positive antibody, with increased inflammatory factors.

10.
Journal of Chinese Physician ; (12): 1441-1444, 2022.
Article in Chinese | WPRIM | ID: wpr-956318

ABSTRACT

Pediatric central nervous system (CNS) immune-related disease is a group of heterogeneous inflammatory conditions mainly affecting CNS. They usually happen in previously healthy individual, with varied clinical manifestations, pathophysiology and genetic changes. Patients require different therapy as well as have different prognosis. Immunotherapy often is helpful to control the disease. With the development of molecular techniques within the recent 10 years, the clinical spectrum and pathogenesis of these neuroinflammatory diseases is being recognized. Further investigations into these diseases are helpful for early diagnosis and targeted immunotherapy, contribute to decrease the mortality and morbidity, then improve the clinical outcome eventually. This study mainly discuss the neuroinflammatory diseases primarily happen in CNS.

11.
Article in Chinese | WPRIM | ID: wpr-936293

ABSTRACT

OBJECTIVE@#To assess the value of DNA methylation level of HYAL2 gene as a molecular marker for differential diagnosis of malignant and benign thyroid tumors.@*METHODS@#DNA methylation of HYAL2 gene in tissue specimens of 190 patients with papillary thyroid cancer (PTC) and 190 age- and gender-matched patients with benign thyroid tumors was examined by mass spectrometry, and the protein expression of HYAL2 was detected immunohistochemically for another 55 pairs of patients. Logistic regression analysis was performed to calculate the odds ratio (OR) and evaluate the correlation of per 10% reduction in DNA methylation with PTC. Receiver operating characteristic (ROC) curve analysis was performed and the area under curve (AUC) was calculated to assess the predictive value of alterations in HYAL2 methylation.@*RESULTS@#Hypomethylation of HYAL2_CpG_3 was significantly correlated with early-stage PTC (OR=1.51, P=0.001), even in stage I cancer (OR=1.42, P=0.007). Age-stratified analysis revealed a significantly stronger correlation between increased HYAL2_CpG_ 3 methylation and early-stage PTC in patients below 50 years than in those older than 50 years (OR: 1.89 vs 1.37, P < 0.05); ROC analysis also showed a larger AUC of 0.787 in younger patients. The results of immunohistochemistry showed that patients with PTC had significantly higher protein expressions of HYAL2 than patients with benign tumors.@*CONCLUSION@#The alterations of DNA methylation level of HYAL2 gene is significantly correlated with early-stage PTC, suggesting the value of DNA methylation level as a potential biomarker for differentiation of malignant from benign thyroid tumors.


Subject(s)
Humans , Middle Aged , Adenoma, Oxyphilic/genetics , Biomarkers, Tumor/metabolism , Cell Adhesion Molecules/metabolism , DNA Methylation , GPI-Linked Proteins/metabolism , Hyaluronoglucosaminidase/metabolism , Immunohistochemistry , Thyroid Cancer, Papillary/pathology , Thyroid Neoplasms/pathology
12.
Article in Chinese | WPRIM | ID: wpr-929793

ABSTRACT

CD99L2(CD99 antigen-like 2)gene is located at Xq28, which encodes a highly conserved and widely expressed glycosylated transmembrane protein.Since it was first reported in 2003, CD99L2 protein has been regarded as an important adhesion molecule, which plays an important role in inflammation, leukocyte exudation, and lymphoma.However, in recent years, more and more studies have found that this gene is closely related to neurological diseases such as autism spectrum disorder, cerebral palsy, and epilepsy, but the specific mechanism is still unclear, and the function of this gene is still unclear.This article reviews the research progress of CD99L2 gene.

13.
Article in English | WPRIM | ID: wpr-929031

ABSTRACT

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.


Subject(s)
Child , Female , Humans , Male , Epilepsy/genetics , Intellectual Disability/genetics , Muscle Hypotonia/complications , Mutation , Phenotype , Seizures/genetics , Strabismus/complications
14.
Article in Chinese | WPRIM | ID: wpr-888472

ABSTRACT

OBJECTIVE@#To study the clinical features and recurrence factors of myelin oligodendrocyte glycoprotein (MOG) antibody disease in children and the effect of recurrence prevention regimens.@*METHODS@#A retrospective analysis was performed on the medical data of 41 children with MOG antibody disease who were hospitalized in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from December 2014 to September 2020. According to the presence or absence of recurrence, they were divided into a monophasic course group (@*RESULTS@#For these 41 children, acute disseminated encephalomyelitis was the most common initial manifestation and was observed in 23 children (56%). Of the 41 children, 22 (54%) experienced recurrence, with 57 recurrence events in total, among which optic neuritis was the most common event (17/57, 30%). The proportion of children in the recurrence group who were treated with corticosteroids for less than 3 months in the acute phase was higher than that in the monophasic course group (64% @*CONCLUSIONS@#More than half of the children with MOG antibody disease may experience recurrence. Most children with recurrence are treated with corticosteroids for less than 3 months in the acute phase. Rituximab and azathioprine may reduce the risk of recurrence.


Subject(s)
Child , Humans , Autoantibodies , Myelin-Oligodendrocyte Glycoprotein , Optic Neuritis , Recurrence , Retrospective Studies
15.
Article in Chinese | WPRIM | ID: wpr-888017

ABSTRACT

Type 2 diabetes mellitus( T2 DM) is a common chronic metabolic disease characterized by persistent hyperglycemia and insulin resistance. In pancreatic β-cells,glucose-stimulated insulin secretion( GSIS) plays a pivotal role in maintaining the balance of blood glucose level. Previous studies have shown that geniposide,one of the active components of Gardenia jasminoides,could quickly regulate the absorption and metabolism of glucose,and affect glucose-stimulated insulin secretion in pancreatic β cells,but the specific mechanism needs to be further explored. Emerging evidence indicated that glycosylation of glucose transporter( GLUT) has played a key role in sensing cell microenvironmental changes and regulating glucose homeostasis in eucaryotic cells. In this study,we studied the effects of geniposide on the key molecules of GLUT2 glycosylation in pancreatic β cells. The results showed that geniposide could significantly up-regulate the mRNA and protein levels of Glc NAc T-Ⅳa glycosyltransferase( Gn T-Ⅳa) and galectin-9 but had no signi-ficant effect on the expression of clathrin,and geniposide could distinctively regulate the protein level of Gn T-Ⅳa in a short time( 1 h) under the conditions of low and medium glucose concentrations,but had no significant effect on the protein level of galectin-9. In addition,geniposide could also remarkably affect the protein level of glycosylated GLUT2 in a short-time treatment. The above results suggested that geniposide could quickly regulate the protein level of Gn T-Ⅳa,a key molecule of protein glycosylation in INS-1 rat pancreatic βcells and affect the glycosylation of GLUT2. These findings suggested that the regulation of geniposide on glucose absorption,metabolism and glucose-stimulated insulin secretion might be associated with its efficacy in regulating GLUT2 glycosylation and affecting its distribution on the cell membrane and cytoplasm in pancreatic β cells.


Subject(s)
Animals , Rats , Diabetes Mellitus, Type 2/metabolism , Glucose/metabolism , Glycosylation , Insulin/metabolism , Insulin-Secreting Cells/metabolism , Iridoids
16.
Article in English | WPRIM | ID: wpr-880678

ABSTRACT

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.


Subject(s)
Child , Humans , Abnormalities, Multiple , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive , Heart Defects, Congenital/genetics , Mutation , Proto-Oncogene Proteins B-raf/genetics
17.
Chinese Journal of Neurology ; (12): 1282-1289, 2021.
Article in Chinese | WPRIM | ID: wpr-911867

ABSTRACT

Objective:To investigate the clinical, imaging and genetic features of patients with global developmental delay combined with epilepsy and striatal degeneration caused by POLR3A gene mutations.Methods:A total of three patients from two families with non-consanguineous marriages admitted to the Department of Pediatric Neurology of Xiangya Hospital of Central South University in 2020 were examined in detail. Peripheral blood DNA was extracted, and whole-exome sequencing was performed on the patients, combined with Sanger sequencing for verification. The mutation and protein function predictor softwares were applied to analyze the mutation sites.Results:All three patients presented with global developmental delay, seizures, dystonia. Head magnetic resonance imaging of all patients suggested basal ganglia atrophy and striatal degeneration. All had compound heterozygous mutations of c.1980 G>C; c.1771-6 C>G and c.2044C>T; c.1771-7 C>G in POLR3A gene as indicated by whole-exome sequencing. Sanger sequencing validation confirmed that the compound heterozygous mutations were originated from the parents of probands from the two families, respectively. Bioinformatic analysis suggested pathogenic features of the mutations.Conclusions:Compound heterozygous mutations in POLR3A gene , including a splice site mutation result in global developmental delay combined with epilepsy, striatal degeneration. Clinicians should promote the awareness of POLR3 related spectrum disorders, thus make early recognition and diagnosis.

18.
Article in English | WPRIM | ID: wpr-924309

ABSTRACT

@#Allergic contact dermatitis affects 15 to 20% of the population. The pattern of contact allergy varies across nations. Therefore, many countries utilize their unique individual baseline series for patch testing. In this study, we aimed to assess the outcome of rubber and fragrance allergy detection with the addition of 1,3-Diphenylguanidine. N-Cyclohexyl-N-Phenyl-4-Phenylenediamine, N-Cyclohexylthiophthalimide and Ylang ylang oil.

19.
Article in Chinese | WPRIM | ID: wpr-879354

ABSTRACT

OBJECTIVE@#To investigate the effect of intra-articular injection of tranexamic acid on blood loss and blood transfusion rate after minimally invasive unicompartmental knee arthroplasty.@*METHODS@#From January 2015 to September 2017, 90 patients underwent minimally invasive unicompartmental knee arthroplasty were divided into tranexamic acid group and control group, 45 cases in each group. In the tranexamic acid group, there were 22 males and 23 females, aged 62 to 69 (66.1±2.4) years;in the control group, 20 males and 25 females, aged 63 to 71(68.5±5.2) years. The amount of bleeding in the drainage ball at 48 hours after operation was recorded, and the blood transfusion rate and hematocrit level duringthe perioperative period were recorded. The factors influencing perioperative blood loss included gender, age and body mass index (BMI).@*RESULTS@#All patients were followed up for 12.5 to 28.3 (22.8±7.9) months. During the follow-up, the wounds of the two groups healed well, and no deep vein thrombosis and pulmonary embolism occurred. There was no significant difference in postoperative blood loss between the tranexamic acid group and the control group. The postoperative bleeding volume in the tranexamic acid group was (110.0±52.1) ml, and that in the control group was (123.0±64.5) ml (P=0.39). There was no blood transfusion in the two groups.@*CONCLUSION@#Intra articular injection of tranexamic acid can not significantly reduce the postoperative blood loss in patients with minimally invasive unicompartment.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Antifibrinolytic Agents/therapeutic use , Arthroplasty, Replacement, Knee/adverse effects , Blood Loss, Surgical/prevention & control , Hemostatics , Injections, Intra-Articular , Postoperative Hemorrhage , Tranexamic Acid
20.
Article in Chinese | WPRIM | ID: wpr-828700

ABSTRACT

OBJECTIVE@#To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.@*METHODS@#A retrospective analysis was performed of the clinical and gene mutation data of 10 children who were diagnosed with ARS gene mutations, based on next-generation sequencing from January 2016 to October 2019.@*RESULTS@#The age of onset ranged from 0 to 9 years among the 10 children. Convulsion was the most common initial symptom (7 children). Clinical manifestations included ataxia and normal or mildly retarded intellectual development (with or without epilepsy; n=4) and onset of epilepsy in childhood with developmental regression later (n=2). Some children experienced disease onset in the neonatal period and had severe epileptic encephalopathy, with myoclonus, generalized tonic-clonic seizure, and convulsive seizure (n=4); 3 had severe delayed development, 2 had feeding difficulty, and 1 had hearing impairment. Mutations were found in five genes: 3 had novel mutations in the AARS2 gene (c.331G>C, c.2682+5G>A, c.2164C>T, and c.761G>A), 2 had known mutations in the DARS2 gene (c.228-16C>A and c.536G>A), 1 had novel mutations in the CARS2 gene (c.1036C>T and c.323T>G), 1 had novel mutations in the RARS2 gene (c.1210A>G and c.622C>T), and 3 had novel mutations in the AARS gene (c.1901T>A, c.229C>T, c.244C>T, c.961G>C, c.2248C>T, and Chr16:70298860-70316687del).@*CONCLUSIONS@#A high heterogeneity is observed in the clinical phenotypes of the diseases associated with the ARS deficiency. A total of 14 novel mutations in 5 genes are reported in this study, which enriches the clinical phenotypes and genotypes of the diseases associated with ARS deficiency.


Subject(s)
Child , Humans , Amino Acyl-tRNA Synthetases , Genetics , Epilepsy , Mutation , Phenotype , Retrospective Studies
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