1.Expert consensus on the prevention and treatment of enamel demineralization in orthodontic treatment.
Lunguo XIA ; Chenchen ZHOU ; Peng MEI ; Zuolin JIN ; Hong HE ; Lin WANG ; Yuxing BAI ; Lili CHEN ; Weiran LI ; Jun WANG ; Min HU ; Jinlin SONG ; Yang CAO ; Yuehua LIU ; Benxiang HOU ; Xi WEI ; Lina NIU ; Haixia LU ; Wensheng MA ; Peijun WANG ; Guirong ZHANG ; Jie GUO ; Zhihua LI ; Haiyan LU ; Liling REN ; Linyu XU ; Xiuping WU ; Yanqin LU ; Jiangtian HU ; Lin YUE ; Xu ZHANG ; Bing FANG
International Journal of Oral Science 2025;17(1):13-13
Enamel demineralization, the formation of white spot lesions, is a common issue in clinical orthodontic treatment. The appearance of white spot lesions not only affects the texture and health of dental hard tissues but also impacts the health and aesthetics of teeth after orthodontic treatment. The prevention, diagnosis, and treatment of white spot lesions that occur throughout the orthodontic treatment process involve multiple dental specialties. This expert consensus will focus on providing guiding opinions on the management and prevention of white spot lesions during orthodontic treatment, advocating for proactive prevention, early detection, timely treatment, scientific follow-up, and multidisciplinary management of white spot lesions throughout the orthodontic process, thereby maintaining the dental health of patients during orthodontic treatment.
Humans
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Consensus
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Dental Caries/etiology*
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Dental Enamel/pathology*
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Tooth Demineralization/etiology*
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Tooth Remineralization
2.Role and advantages of 3D printing technology in stomatology and maxillofacial surgery restoration and reconstruction
Yufei SONG ; Huanzhi CHENG ; Haixia FAN ; Meng HOU
Chinese Journal of Tissue Engineering Research 2025;29(22):4823-4831
BACKGROUND:Unique advantages of 3D printing technology have opened up new ideas for the development of stomatology.OBJECTIVE:To summarize the application progress of 3D printing technology in stomatology.METHODS:The relevant articles were searched in CNKI and PubMed by computer.Classification search was performed using"3D printing,oral science"as Chinese search terms.Keyword search was conducted using"three-dimensional printing,stomatology,dentistry,prosthodontics,oral implant,orthodontics,oral and maxillofacial surgery,dental pulp disease,periodontitis"as English search terms.The literature that was not related to the theme of the article was initially excluded after reading.According to the inclusion and exclusion criteria,54 articles were finally included for review.RESULTS AND CONCLUSION:In the field of stomatology,the application scope of 3D printing technology is rapidly expanding,gradually replacing the traditional clinical diagnosis and treatment methods.Through the combination of digital technology and advanced material science,3D printing can accurately create 3D models,providing personalized solutions for the treatment of oral diseases,ensuring that doctors can carry out detailed planning and preview before surgery,and improve the safety of surgery.3D printing technology has shown significant advantages in customized denture production,personalized implantation,bracket-free invisible orthodontics,etc.Based on this technology,doctors can implement accurate design and production according to the patient's oral structure and needs,bringing patients a good treatment experience and prognosis.3D printing technology has also shown great potential in minimally invasive endodontic treatment and periodontal tissue regeneration,3D printed scaffolds and implants can provide a suitable environment for stem cells to promote the regeneration and repair of periodontal tissues,but at present,3D printing is still in the development stage of regenerative therapy,and more research and practice are needed to verify the effect and safety of its clinical application.
3.Necroptosis-related diagnostic biomarkers of bronchopulmonary dysplasia and their relationships with immune microenvironment
Haixia TU ; Changjiang FANG ; Ping GAN ; Nana PENG ; Yunyun GU ; Honghua JIANG ; Weiwei HOU ; Guihua SHU
Journal of Clinical Medicine in Practice 2025;29(14):80-87
Objective To investigate necroptosis-related diagnostic biomarkers of bronchopulmo-nary dysplasia(BPD)and their relationships with the immune microenvironment through the analysis of necroptosis-related genes(NRGs)in BPD.Methods The dataset GSE32472 was downloaded from the Gene Expression Omnibus(GEO)database,and NRGs were obtained from the Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway and Gene Cards databases.Differentially expressed necroptosis-related genes(DE-NRGs)were screened,and their biological functions and pathways were explored through functional enrichment analysis.Machine learning algorithms,inclu-ding least absolute shrinkage and selection operator(LASSO)and support vector machine-recursive feature elimination(SVM-RFE),were applied to screen feature genes.The Cell-type Ⅰdentification By Estimating Relative Subsets of RNA Transcripts(CIBERSORT)algorithm and the Estimation of Stromal and Immune Cells in Malignant Tumor Tissues using Expression Data(ESTIMATE)algo-rithm were used to explore the immune infiltration characteristics of BPD.Spearman correlation anal-ysis between feature genes and immune cells was performed using the"corrplot"package in R lan-guage.Results A total of 19 DE-NRGs were identified.The main biological functions and path-ways of DE-NRGs included the regulation of necroptosis and inflammatory responses.Three feature genes,namely flotillin-2(FLOT2),CASP8 and FADD-like apoptosis regulators(CFLAR),and charged multivesicular body protein 7(CHMP7),were further screened to construct a nomogram.In the validation sets GSE8586 and GSE188944,the area under the curve(AUC)values were all greater than 0.7.CIBERSORT analysis revealed that BPD group presented a higher proportion of naive B cells,neutrophils,eosinophils and resting mast cells compared to control group(P<0.05).Meanwhile,the proportion of CD8+T cells,CD4+naive T cells,CD4+resting memory T cells,regulatory T cells,resting natural killer(NK)cells,M0 macrophages,M2 macrophages and activated dendritic cells was lower than that in the control group(P<0.05).ESTIMATE analysis showed that the stromal score in the BPD group was higher than that in the control group,while the immune score was lower,with statistically significant differences(P<0.05).Correlation analysis between the three feature genes and ESTIMATE scores indicated that FLOT2 and CFLAR were posi-tively correlated with the stromal score and negatively correlated with the immune score,whereas CHMP7 was positively correlated with the immune score and negatively correlated with the stromal score.Conclusion The three necroptosis-related feature genes can serve as diagnostic biomarkers for BPD-related necroptosis,with high diagnostic efficacy.They may play an important roles through immune mechanisms,providing new insights and theoretical references for the early diagnosis and immune intervention of BPD.
4.Clinical analysis of anti-GT1a antibody-positive Guillain-Barré syndrome in 25 children
Dan CHEN ; Chi HOU ; Haixia ZHU ; Jie YU ; Yani ZHANG ; Kelu ZHENG ; Yuanyuan GAO ; Xiaojing LI
Chinese Journal of Pediatrics 2025;63(10):1092-1096
Objective:To summarize the clinical characteristics, treatment, and prognosis of children with anti-GT1a antibody-positive Guillain-Barré syndrome (GBS).Methods:A case series study was conducted, including 25 children diagnosed with serum anti-GT1a antibody-positive GBS at Guangzhou Women and Children′s Medical Center from March 2019 to December 2024. Clinical data, treatment protocols, and follow-up outcomes were analyzed. Mann Whitney U test was used to compare the changes in Hughes functional grading scale (HFGS). Results:A total of 25 children included 12 boys and 13 girls, and the age at first onset was (71±8) months. There were 16 children (64%) had preceding infections, and of which 13 children had predominantly respiratory tract infections. At disease peak, neurological manifestations included limb weakness (21 cases (84%)), bulbar palsy (13 cases (52%)), drowsiness (7 cases (28%)), limb pain (9 cases (36%)), ataxia (6 cases (24%)), respiratory muscle paralysis (5 cases (20%)), ophthalmoplegia (5 cases (20%)), and unilateral facial nerve palsy (4 cases (16%)). Cerebrospinal fluid analysis in 23 children revealed albuminocytological dissociation in 18 children. All 25 children underwent whole-spine magnetic resonance imaging (MRI), demonstrated spinal nerve root enhancement in 18 children, with leptomeningeal enhancement combined with spinal nerve root enhancement in 1 child. Electromyography in 16 children showed 15 children abnormality, of which demyelinating lesions in 8 children, mixed demyelinating-axonal changes in 4 children, and pure axonal involvement in 3 children. Intravenous immunoglobulin (IVIG) was administered to 21 cases (84%), of which 3 children required mechanical ventilation and blood purification (plasma exchange in 2 children and immunoadsorption in 1 child) due to disease progression. Four children (16%) received intravenous methylprednisolone (IVMP) instead of IVIG, with 1 child requiring ventilatory support due to respiratory muscle paralysis, and the tracheal tube was removed after continued sequential IVMP treatment. The hospitalization duration of 25 children was (23±3) d. At discharge, HFGS was 1.6 (0.6, 2.7) score. At a follow-up of 12 (4, 18) months, HFGS was 0.1 (0.0, 0.5) score, and higher than that at discharge ( Z=4.38, P<0.05). Two children relapsed but achieved remission after IVIG retreatment with no recurrence during 1-year follow-up. Conclusions:Anti-GT1a antibody-positive GBS in children predominantly presents with limb weakness and bulbar palsy, occasionally complicated by respiratory failure in the acute phase. Demyelinating neuropathy and spinal nerve root enhancement on MRI are characteristic. IVIG therapy yields favorable outcomes, with low residual disability. Relapses are rare but manageable with re-treatment.
5.Role and advantages of 3D printing technology in stomatology and maxillofacial surgery restoration and reconstruction
Yufei SONG ; Huanzhi CHENG ; Haixia FAN ; Meng HOU
Chinese Journal of Tissue Engineering Research 2025;29(22):4823-4831
BACKGROUND:Unique advantages of 3D printing technology have opened up new ideas for the development of stomatology.OBJECTIVE:To summarize the application progress of 3D printing technology in stomatology.METHODS:The relevant articles were searched in CNKI and PubMed by computer.Classification search was performed using"3D printing,oral science"as Chinese search terms.Keyword search was conducted using"three-dimensional printing,stomatology,dentistry,prosthodontics,oral implant,orthodontics,oral and maxillofacial surgery,dental pulp disease,periodontitis"as English search terms.The literature that was not related to the theme of the article was initially excluded after reading.According to the inclusion and exclusion criteria,54 articles were finally included for review.RESULTS AND CONCLUSION:In the field of stomatology,the application scope of 3D printing technology is rapidly expanding,gradually replacing the traditional clinical diagnosis and treatment methods.Through the combination of digital technology and advanced material science,3D printing can accurately create 3D models,providing personalized solutions for the treatment of oral diseases,ensuring that doctors can carry out detailed planning and preview before surgery,and improve the safety of surgery.3D printing technology has shown significant advantages in customized denture production,personalized implantation,bracket-free invisible orthodontics,etc.Based on this technology,doctors can implement accurate design and production according to the patient's oral structure and needs,bringing patients a good treatment experience and prognosis.3D printing technology has also shown great potential in minimally invasive endodontic treatment and periodontal tissue regeneration,3D printed scaffolds and implants can provide a suitable environment for stem cells to promote the regeneration and repair of periodontal tissues,but at present,3D printing is still in the development stage of regenerative therapy,and more research and practice are needed to verify the effect and safety of its clinical application.
6.Clinical analysis of anti-GT1a antibody-positive Guillain-Barré syndrome in 25 children
Dan CHEN ; Chi HOU ; Haixia ZHU ; Jie YU ; Yani ZHANG ; Kelu ZHENG ; Yuanyuan GAO ; Xiaojing LI
Chinese Journal of Pediatrics 2025;63(10):1092-1096
Objective:To summarize the clinical characteristics, treatment, and prognosis of children with anti-GT1a antibody-positive Guillain-Barré syndrome (GBS).Methods:A case series study was conducted, including 25 children diagnosed with serum anti-GT1a antibody-positive GBS at Guangzhou Women and Children′s Medical Center from March 2019 to December 2024. Clinical data, treatment protocols, and follow-up outcomes were analyzed. Mann Whitney U test was used to compare the changes in Hughes functional grading scale (HFGS). Results:A total of 25 children included 12 boys and 13 girls, and the age at first onset was (71±8) months. There were 16 children (64%) had preceding infections, and of which 13 children had predominantly respiratory tract infections. At disease peak, neurological manifestations included limb weakness (21 cases (84%)), bulbar palsy (13 cases (52%)), drowsiness (7 cases (28%)), limb pain (9 cases (36%)), ataxia (6 cases (24%)), respiratory muscle paralysis (5 cases (20%)), ophthalmoplegia (5 cases (20%)), and unilateral facial nerve palsy (4 cases (16%)). Cerebrospinal fluid analysis in 23 children revealed albuminocytological dissociation in 18 children. All 25 children underwent whole-spine magnetic resonance imaging (MRI), demonstrated spinal nerve root enhancement in 18 children, with leptomeningeal enhancement combined with spinal nerve root enhancement in 1 child. Electromyography in 16 children showed 15 children abnormality, of which demyelinating lesions in 8 children, mixed demyelinating-axonal changes in 4 children, and pure axonal involvement in 3 children. Intravenous immunoglobulin (IVIG) was administered to 21 cases (84%), of which 3 children required mechanical ventilation and blood purification (plasma exchange in 2 children and immunoadsorption in 1 child) due to disease progression. Four children (16%) received intravenous methylprednisolone (IVMP) instead of IVIG, with 1 child requiring ventilatory support due to respiratory muscle paralysis, and the tracheal tube was removed after continued sequential IVMP treatment. The hospitalization duration of 25 children was (23±3) d. At discharge, HFGS was 1.6 (0.6, 2.7) score. At a follow-up of 12 (4, 18) months, HFGS was 0.1 (0.0, 0.5) score, and higher than that at discharge ( Z=4.38, P<0.05). Two children relapsed but achieved remission after IVIG retreatment with no recurrence during 1-year follow-up. Conclusions:Anti-GT1a antibody-positive GBS in children predominantly presents with limb weakness and bulbar palsy, occasionally complicated by respiratory failure in the acute phase. Demyelinating neuropathy and spinal nerve root enhancement on MRI are characteristic. IVIG therapy yields favorable outcomes, with low residual disability. Relapses are rare but manageable with re-treatment.
7.Correlation between cancer related anemia and abundance of SARS-CoV-2 specific memory CD8+ T cells
Xuezhi YANG ; Junlei HOU ; Enjian ZHU ; Haixia LONG ; Haoran ZHA ; Bo ZHU
Journal of Army Medical University 2024;46(9):1047-1056
Objective To explore the effect of cancer related anemia on the abundance of SARS-CoV-2 specific memory CD8+T cells in peripheral blood.Methods A total of 34 HLA-A*11∶01 positive patients with middle-and late-stage tumors admitted in the Rocket Force Medical Center of PLA from June to July 2023 were enrolled in this study.According to hemoglobin(HGB)level,they were divided into non anemia group(≥120 g/L,n=14),mild anemia group(90~120 g/L,n=14),and moderate to severe anemia group(<90 g/L,n=6).After their peripheral blood mononuclear cells were isolated,memory CD8+T cells were stimulated by the epitopes of SARS-CoV-2 and then expanded.Positive epitopes were screened using enzyme-linked immunosorbent spot(ELISP OT)assay,and then MHC-peptide Tetramers were constructed.The proportion and number of Tetramer+cells and the number of ELISPOT spots were detected in the expanded cells to reflect the abundance of SARS-CoV-2 specific memory CD8+T cells.The relevance of patients'HGB level with the proportion and number of Tetramer+cells and the number of ELISPOT spots was analyzed.The differences of the proportion and number of Tetramer+cells and the number of ELISPOT spots was analyzed in different groups.Results Among the 34 patients,there were 25 males and 9 females,at an age range of 36~78(median 57)years.The proportion and number of Tetramer+cells and the number of ELISPOT spots were positively correlated with HGB level(P<0.05).The proportion and number of Tetramer+cells and the number of ELISPOT spots were significantly decreased in patients with moderate to severe anemia than the non anemia patients(P<0.05).Conclusion The abundance of SARS-CoV-2 specific memory CD8+T cells in peripheral blood is positively correlated with patients'HGB level,indicating that CRA may increase the susceptibility of patients to viruses by reducing the abundance of memory CD8+T cells in peripheral blood.
8.Clinical characteristics and significance of interleukin-6 and interleukin-8 in cerebrospinal fluid of children with bacterial meningitis
Lianfeng CHEN ; Wenxiong CHEN ; Haixia ZHU ; Bingwei PENG ; Chi HOU ; Yiru ZENG ; Yinting LIAO ; Wenlin WU ; Xiaojing LI
Chinese Journal of Applied Clinical Pediatrics 2024;39(8):584-588
Objective:To explore the clinical characteristics of interleukin-6 (IL-6) and interleukin-8 (IL-8) in cerebrospinal fluid (CSF) of children with bacterial meningitis (BM) and provide reference for clinical diagnosis and treatment of BM.Methods:The clinical data of BM children hospitalized in Women and Children′s Medical Center Affiliated to Guangzhou Medical University from December 2019 to March 2022 were collected and retrospectively analyzed in this case series study.Cytokines in CSF of these children were detected at least twice during the treatment. t test, Mann-Whitney test or analysis of variance were carried out for statistical analysis. Results:There were 40 patients included in this study.The age of onset was 2(1, 8) months, ranging from 2 days to 8 years, and the length of time from onset to hospitalization was (15±17) days, ranging from 1 day to 69 days.The main symptoms at the onset were fever (40 cases, 100%), poor mental state (16 cases, 35.0%), convulsion (9 cases, 22.5%), and vomiting (9 cases, 22.5%).According to pathogens, the patients were divided into the Streptococcus agalactia group (GBS group, 9 cases), Streptococcus pneumoniae group (SP group, 9 cases), other bacteria group (9 cases), and unknown bacteria group (13 cases).The levels of cytokines in the CSF of BM children were increased, along with significantly elevated levels of IL-6 and IL-8 within 1 st week of BM, followed by the peak at 2 nd-3 rd weeks, and then levels of IL-6 and IL-8 presented an overall decreasing trend with the progression of BM.The level of IL-6 in CSF of 10 cases significantly decreased in the 4 th week of BM [within 2 weeks: 773.5(164.1, 1 781.2) ng/L vs. 4 th week: 10.8(2.2, 21.1) ng/L, P=0.005].Such statistical differences didn′t occur to the level of IL-8 [within 2 weeks 182.9(33.6, 657.7) ng/L vs. 4 th week: 92.9(22.6, 226.6) ng/L, P=0.303].After effective antibiotic therapy, 6 patients had elevated white blood cell count in CSF during the 4 th-20 th weeks, with or without repeating intermittent fever.Among them, 4 cases of GBS and 1 case of SP were negative for pathogens in CSF during the retest after treatment, and the levels of IL-6 and IL-8 [(149.1-4 218.6) ng/L and (124.2-1 890.3) ng/L, respectively] in CSF were elevated.Low-dose glucocorticoid was administered for anti-inflammatory treatment, with additional gamma globulin for 1 case and Ibuprofen instead for 1 case.Subsequently, the fever completely subsided.The white blood cell count in CSF decreased significantly ( P=0.024). Conclusions:The levels of IL-6 and IL-8 in CSF increase significantly in the acute phase of BM and generally decrease with the progression of BM.If they are still significantly elevated in the later course of BM, it should be noted that an intracranial hyperinflammatory response may occur, especially when the pathogenic bacteria are GBS or SP.
9.Antitumor effects of redox-responsive nanoparticles containing platinum(Ⅳ)in ovarian cancer
Hongyi HOU ; Dongsheng TANG ; Yanan ZHANG ; Kunyu WANG ; Miao AO ; Haixia LUO ; Bin LI
Chinese Journal of Oncology 2024;46(1):76-85
Objectives:To explore the antitumor effects of redox-responsive nanoparticles containing platinum(Ⅳ)—NP@Pt(Ⅳ) in ovarian cancer.Methods:Redox-responsive polymer carriers were synthesized. Polymer carriers and platinum(Ⅳ)—Pt(Ⅳ) can self-assemble into NP@Pt(Ⅳ). Inductively coupled plasma mass spectrometry was performed to detect the platinum release from NP@Pt(Ⅳ) in reducing environment and the platinum content in ovarian cancer cells ES2 treated with cisplatin, Pt(Ⅳ) and NP@Pt(Ⅳ). The proliferation ability of the ovarian cancer cells were detected by 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. Cellular apoptosis was assessed by flow cytometry. Collection of primary ovarian cancer tissues from patients with primary high-grade serous ovarian cancer who were surgically treated at the Cancer Hospital of the Chinese Academy of Medical Sciences from October to December 2022. The high-grade serous ovarian cancer patient-derived xenograft (PDX) mice were intravenously injected with Cy7.5 labeled NP@Pt(Ⅳ) followed by in vivo imaging system. Mice were treated with PBS, cisplatin and NP@Pt(Ⅳ). Tumor volume and weight were measured in each group. Necrosis, apoptosis and cell proliferation of tumor tissues were detected by hematoxylin-eosin (HE) staining, TUNEL fluorescence staining and Ki-67 immunohistochemistry staining. Body weight and HE staining of heart, liver, spleen, lung and kidney of mice in each group were measured.Results:The platinum release of NP@Pt(Ⅳ) after 48 hours in reducing environment was 76.29%, which was significantly higher than that of 26.82% in non-reducing environment ( P<0.001). The platinum content in ES2 cells after 4 hours and 7 hours of treatment with NP@Pt(Ⅳ) (308.59, 553.15 ng/million cells) were significantly higher than those of Pt(Ⅳ) (100.21, 180.31 ng/million cells) and cisplatin (43.36, 50.36 ng/million cells, P<0.05). The half inhibitory concentrations of NP@Pt(Ⅳ) in ovarian cancer cells ES2, A2780, A2780DDP were 1.39, 1.42 and 4.62 μmol/L, respectively, which were lower than those of Pt(IV) (2.89, 7.27, and 16.74 μmol/L) and cisplatin (5.21, 11.85, and 71.98 μmol/L). The apoptosis rate of ES2 cells treated with NP@Pt(Ⅳ) was (33.91±3.80)%, which was significantly higher than that of Pt(Ⅳ) [(16.28±2.41)%] and cisplatin [(15.01±1.17)%, P<0.05]. In high-grade serous ovarian cancer PDX model, targeted accumulation of Cy7.5 labeled NP@Pt(Ⅳ) at tumor tissue could be observed. After the treatment, the tumor volume of mice in NP@Pt(IV) group was (130±98) mm 3, which was significantly lower than those in control group [(1 349±161) mm 3, P<0.001] and cisplatin group [(715±293) mm 3, P=0.026]. The tumor weight of mice in NP@Pt(IV) group was (0.17±0.09)g, which was significantly lower than those in control group [(1.55±0.11)g, P<0.001] and cisplatin group [(0.82±0.38)g, P=0.029]. The areas of tumor necrosis and apoptosis in mice treated with NP@Pt(Ⅳ) were higher than those in mice treated with cisplatin. Immunohistochemical staining revealed that there were low expressions of Ki-67 at tumor tissues of mice treated with NP@Pt(Ⅳ) compared with cisplatin. The change in body weight of mice in NP@Pt(Ⅳ) group was not significantly different from that of the control group [(18.56±2.04)g vs.(20.87±0.79)g, P=0.063]. Moreover, the major organs of the heart, liver, spleen, lung, and kidney were also normal by HE staining. Conclusion:Redox-responsive NP@Pt(Ⅳ), produced in this study can enhance the accumulation of cisplatin in ovarian cancer cells and improve the efficacy of ovarian cancer chemotherapy.
10.Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene.
Yang TIAN ; Zhen SHI ; Chi HOU ; Wenjuan LI ; Haixia ZHU ; Xiaojing LI ; Wenxiong CHEN
Chinese Journal of Medical Genetics 2022;39(4):417-420
OBJECTIVE:
To explore the genetic basis for a child with myopathy and cerebellar atrophy with ataxia.
METHODS:
Clinical examinations and laboratory testing were carried out for the patient. The proband and the parents' genomic DNA was extracted from peripheral blood samples and subjected to trio whole-exome sequencing. Candidate variant was validated by Sanger sequencing.
RESULTS:
The 1-year-and-8-month-old boy manifested motor developmental delay, ataxia, hypomyotonia, increased serum creatine kinase. Cranial MRI showed cerebellar atrophy with progressive aggravation. Genetic testing revealed that the patient has harbored compound heterozygous variants of the MSTO1 gene, namely c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile), which were respectively inherited from his mother and father. The former was unreported previously and was predicted to be likely pathogenic, whilst the latter has been reported previously and was predicted to be of uncertain significance.
CONCLUSION
The compound heterozygous c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile) variants probably underlay the disease in the proband. Above finding has enriched the spectrum of MSTO1 gene variants underlying mitochondrial myopathy and cerebellar atrophy with ataxia.
Ataxia/genetics*
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Atrophy/genetics*
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Cell Cycle Proteins/genetics*
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Child
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Cytoskeletal Proteins/genetics*
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Humans
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Infant
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Male
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Mitochondrial Myopathies
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Mutation
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Neurodegenerative Diseases
;
Whole Exome Sequencing

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