1.Burden of alopecia areata in China, 1990-2021: Global Burden of Disease Study 2021.
Xiangqian LI ; Huixin LIU ; Wenhui REN ; Qijiong ZHU ; Peng YIN ; Lijun WANG ; Jianzhong ZHANG ; Jinlei QI ; Cheng ZHOU
Chinese Medical Journal 2025;138(3):318-324
BACKGROUND:
Research has indicated that the disease burden of alopecia areata (AA) in China exceeds the global average. Therefore, accurate and updated epidemiological information is crucial for policymakers. In this study, we aimed to comprehensively assess the disease burden of AA in China.
METHODS:
The following four key indicators were utilized: the prevalence of cases; disability-adjusted life-years (DALYs); the age-standardized prevalence rate (ASPR); and the age-standardized DALY rate (ASDR) of AA according to the Global Burden of Disease (GBD) study 2021. We analyzed the epidemiological burden of AA in China during 2021, examined changes between 1990 and 2021, and performed a Bayesian age-period-cohort analysis to predict trends over the course of the next decade (2022-2030). Additionally, a Gaussian process regression model was applied to estimate the relationship between the gross domestic product (GDP) and the ASPR and ASDR of AA at the provincial level between 1992 and 2021.
RESULTS:
In 2021, the estimated number of patients with AA in China was approximately 3.49 million (95% uncertainty interval [UI], 3.37-3.62 million); of these patients, 1.20 million (95% UI, 1.16-1.25 million) were male and 2.29 million (95% UI, 2.20-2.37 million) were female. This large number of patients with AA resulted in a total of 114,431.25 DALYs (95% UI, 74,780.27-160,318.96 DALYs). Additionally, the ASPR and ASDR were 224.61 per 100,000 population (95% UI, 216.73-232.65 per 100,000 population) and 7.41 per 100,000 population (95% UI, 4.85-10.44 per 100,000 population), respectively; both of these rates were higher than the global averages. The most affected demographic groups were young and female individuals 25-39 years of age. Slight regional disparities were observed, with the northern and central regions of China bearing comparatively higher burdens. Between 1990 and 2021, the health loss and disease burden caused by AA in China remained relatively stable. The ASPR and ASDR of AA increased with the GDP when the annual GDP was less than 2 trillion Chinese yuan; however, a downward trend was observed as the GDP surpassed 2 trillion Chinese yuan. A slight upward trend in the disease burden of AA in China is predicted to occur over the next decade.
CONCLUSIONS
AA continues to be a public health concern in China that shows no signs of declining. Targeted efforts for young individuals and females are necessary because they experience a disproportionately high burden of AA.
Humans
;
China/epidemiology*
;
Alopecia Areata/epidemiology*
;
Global Burden of Disease
;
Female
;
Male
;
Adult
;
Disability-Adjusted Life Years
;
Middle Aged
;
Prevalence
;
Adolescent
;
Young Adult
;
Bayes Theorem
;
Child
;
Quality-Adjusted Life Years
;
Child, Preschool
2.Clinical study of percutaneous short-segment injured vertebra pedicle screw fixation combined with bone grafting in treatment of thoracolumbar fractures.
Long JIA ; Xiangqian LI ; Yadong QIAN ; Mingji CHEN
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(10):1310-1317
OBJECTIVE:
To compare the effectiveness of percutaneous short-segment injured vertebra pedicle screw fixation combined with bone grafting versus percutaneous short-segment injured vertebra pedicle screw fixation alone for the treatment of thoracolumbar fractures.
METHODS:
The clinical data of 54 patients with single-level thoracolumbar fractures who met the selection criteria between January 2023 and February 2024 were retrospectively analysed. Based on whether bone grafting was performed on the injured vertebra, the patients were divided into a control group (28 cases, percutaneous short-segment injured vertebra pedicle screw fixation alone) and a study group (26 cases, percutaneous short-segment injured vertebra pedicle screw fixation combined with bone grafting using a self-made minimally invasive bone grafting funnel). No significant difference was observed between the two groups ( P>0.05) in baseline data, including age, gender, surgical segment, cause of injury, AO classification, and preoperative anterior-vertebral height compression ratio, mid-vertebral height compression ratio, Cobb angle, visual analogue scale (VAS) score, and Oswestry Disability Index (ODI). The operation time, intraoperative blood loss, fracture healing status, removal time of internal fixator, and complications were recorded and compared between the two groups. Effectiveness was assessed using anterior-vertebral height compression ratio, mid-vertebral height compression ratio, Cobb angle, VAS scores, and ODI taken preoperatively, at 1 week postoperatively, and at last follow-up.
RESULTS:
All patients in both groups successfully underwent surgery. The operation time and intraoperative blood loss in the control group were significantly less than those in the study group ( P<0.05). No significant difference was observed in the follow-up time between the study group [(14.46±2.00) months] and control group [(14.36±1.83) months] ( P>0.05). The fracture healing time of the study group was significantly shorter than that of the control group ( P<0.05). One patient in the study group was found to have bilateral titanium rod breakage by X-ray reexamination at 8 months after operation, and there was no subsequent vertebral height collapse occurred, and the internal fixator was removed following complete fracture healing. The other patients had no complication such as spinal cord injury, internal fixator loosening and breakage. There was no significant difference in the removal time of internal fixator between the two groups ( P<0.05). The anterior-vertebral height compression ratio, mid-vertebral height compression ratio, Cobb angle, VAS score, and ODI significantly improved in both groups at 1 week after operation and at last follow-up ( P<0.05). Among them, the VAS score, and ODI further improved at last follow-up when compared with at 1 week after operation, Cobb angle lost a little at 1 week after operation, while anterior-vertebral height compression ratio and mid-vertebral height compression ratio slightly increased when compared with 1 week after operation, and the differences were significant ( P<0.05). There was no significant difference between the two groups in Cobb angle at last follow-up, VAS score and ODI at 1 week after operation ( P>0.05), while the other indicators in the study group were significantly better than those in the control group at all time points ( P<0.05).
CONCLUSION
Compared to percutaneous short-segment injured vertebra pedicle screw fixation alone, the technique combined with intravertebral bone grafting can shorten fracture healing time, effectively restore and maintain vertebral body height, correct kyphotic deformity, and improve clinical outcomes for patients with thoracolumbar fractures.
Humans
;
Thoracic Vertebrae/surgery*
;
Pedicle Screws
;
Lumbar Vertebrae/surgery*
;
Spinal Fractures/surgery*
;
Bone Transplantation/methods*
;
Fracture Fixation, Internal/instrumentation*
;
Male
;
Female
;
Retrospective Studies
;
Adult
;
Middle Aged
;
Treatment Outcome
;
Minimally Invasive Surgical Procedures/methods*
;
Operative Time
;
Aged
3.Hepatic T cell subtypes and functional analysis among alveolar echinococcosis patients using single-cell RNA sequencing
Si CHEN ; Xiangqian WANG ; Wanzhong JIA ; Qigang CAI ; Xueyong ZHANG ; Qiang ZHANG ; Haibo ZHENG ; Linghong ZHU ; Bing LI ; Wei WANG ; Xiumin HAN
Chinese Journal of Schistosomiasis Control 2024;36(5):481-493
Objective To investigate T cell subtypes and their functions in liver immune microenvironments among patients with alveolar echinococcosis (AE) using single-cell RNA sequencing (scRNA-seq). Methods Four AE patients that were admitted to Qinghai Provincial People’s Hospital in 2023 for hepatic surgery for the first time were enrolled, and liver specimens were sampled 1 cm (peri-lesion, PL group) and > 5 cm from AE lesions (distal lesion, DL group) among each patient. Finally, a total of eight liver specimens were sampled from four AE patients for scRNA-seq analysis. Genome and transcriptome data of liver specimens were processed using the software Cell Ranger and R package. Differentially expressed genes (DEGs) and their biological functions were analyzed using gene ontology (GO) enrichment analysis and Kyoto encyclopedia of genes and genomes (KEGG) pathway analysis, and the primary intercellular communication patterns and interaction mechanisms were identified among T cell subtypes in liver specimens using the CellChat package. In addition, the developmental stages of T cells were subjected to trajectory analysis with the monocle package to investigate the expression of genes associated with cell growth and tumor transformation, and to predict the developmental trajectories of T cells. Results All four AE patients were female, with a mean age of (25.00 ± 9.06) years, and there were three cases from Jiuzhi County, Golog Tibetan Autonomous Prefecture and one case from Chengduo County, Yushu Tibetan Autonomous Prefecture, Qinghai Province. The viability of single-cell samples from eight liver specimens was 90.41% to 96.33%, and a total of 81 763 cells were analyzed, with 19 cell types annotated. Of these cell types, 13 were immune cells (87.60%), and T cells (33.13%), neutrophils (15.40%), and natural killer cells (11.92%) were the three most common cell types. Re-clustering of 27 752 T cells and proliferative T cells identified 10 distinct T cell subtypes, with CD8+ cytotoxic T cells (23.43%), CD8+ naive T cells (12.80%), and CD4+ effector memory T cells (17.73%) as dominant cell types. The proportions of T helper 2 (Th2) cells (5.19% vs. 3.63%; χ2 = 38.35, P < 0.01) and CD4+ effector memory T cells (21.59% vs. 13.67%; χ2 = 244.70, P < 0.01) were significantly higher in liver specimens in the PL group than in the DL group, and the proportion of CD4+ helper T cells was significantly lower in the PL group than in the DL group (7.50% vs. 14.75%; χ2 = 330.52, P < 0.01). KEGG pathway analysis revealed that Th2 cells were significantly enriched in cell apoptosis and multiple cancer-associated pathways, and CD4+ effector memory T cells were significantly enriched in the regulation of cytokines and chronic inflammation, while CD4+ helper T cells were significantly enriched in immune responses regulation. Trajectory analysis of T cells showed that CD4+ helper T cells were at an earlier developmental stage relative to Th2 cells and CD4+ effector memory T cells, and the expression of inhibitor of DNA binding 3 (ID3), thioredoxin interacting protein (TXNIP), Bcl2-associated athanogene 3 (BAG3) and heat shock protein family B (small) member 1 (HSPB1) genes appeared a tendency towards a decline over time. Conclusions CD4+ effector memory T cells and CD8+ cytotoxic T cells are primary interacting cells in the liver specimens of AE patients. Reduced expression of Th2 cells and CD4+ helper T cells contributes to an inhibitory immune microenvironment, which promotes immune evasion by Echinococcus multilocularis, and Th2 cells are significantly enriched in multiple cancer-associated pathways, which may be linked to the invasive growth of E. multilocularis.
4.Adipose derived mesenchymal stem cell exosomes inhibit adverse ventricular remode-ling after myocardial infarction by regulating autophagy and NLRP3 inflammasomes balance of cardiac fibroblasts
Jianjun WANG ; Jing LI ; Xuming MA ; Zhaofei WAN ; Bin ZHU ; Yaping LIU ; Xiangqian GUO ; Jiping PAN ; Yan FAN
Chinese Journal of Arteriosclerosis 2024;32(8):654-662
Aim To investigate the inhibition role and mechanism of adipose derived mesenchymal stem cell(ADMSC)exosomes(Exo)on adverse ventricular remodeling after myocardial infarction(MI).Methods The chan-ges of autophagy and inflammasomes phenotype of cardiac fibroblasts after H2O2 treatment were observed.MI rats were in-jected with an equal volume of normal saline,adipose derived mesenchymal stem cell exosomes(MSC-Exo)or fibroblast exosomes(MEF-Exo)via a tail vein.The expression of autophagy related 16 like protein 1(ATG16L1),autophagy re-lated protein 7(ATG7)and NOD-like receptor protein 3(NLRP3),inflammatory response,the degree of myocardial fi-brosis,and the cardiac function were observed in different groups.Results After treatment with H2O2 on cardiac fi-broblasts,the expressions of ATG16L1 and ATG7 were significantly decreased(P<0.001),NLRP3 was significantly in-creased(P<0.001),and the levels of inflammatory cytokines interleukin-1β(IL-1β)and IL-18 were significantly elevated(P<0.001).After MI rats were intervened with MSC-Exo,the expressions of autophagy related proteins ATG16L1 and ATG7 were significantly up-regulated(P<0.001),NLRP3 was significantly down-regulated(P<0.001),serum IL-1β and IL-18 levels were significantly decreased(P<0.001),fibrosis-related proteins collagen Ⅰ and Ⅲ were significantly reduced(P<0.001),myocardial fibrosis was significantly relieved(P<0.001),and cardiac function was sig-nificantly improved(P<0.001).Conclusion Adipose derived MSC-Exo play a role in inhibiting adverse ventricular remodeling after MI by regulating the balance of autophagy and NLRP3 inflammasomes.
5.Research Progress in the Mechanism of Treatment for Psoriasis and Atherosclerosis Comorbidity with Chinese Materia Medica
Chuang LIU ; Li LIN ; Yuepeng AN ; Xiangqian REN ; Suqing YANG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(12):185-190
Psoriasis and atherosclerosis are both complex and refractory.Genetic susceptibility,inflammatory response and the role of adipokines may be the main mechanisms of their comorbidity.TCM believes that heat,toxicity,phlegm,and blood stasis are the basic pathological factors of the comorbidity,which intertwine and lead to a longer course of disease.TCM,starting from the holistic concept,has a certain efficacy in the treatment of psoriasis and atherosclerosis,and has received widespread attention.This article reviewed the pathogenesis of psoriasis and atherosclerosis comorbidity from the aspects of heredity,inflammatory response,and the role of adipokines,and combed the current situation of the research on the mechanism of the treatment of psoriasis and atherosclerosis comorbidity with TCM monomer and compounds,providing references for related mechanisms and clinical research.
6.Clinical efficacy on the treatment of thoracolumbar fracture using a homemade bone graft funnel for injured vertebral bone graft combined with percutaneous pedicle screw internal fixation
Long JIA ; Xiangqian LI ; Rufeng GAO
Chinese Journal of Spine and Spinal Cord 2024;34(5):476-483
Objectives:To investigate the clinical efficacy of using a homemade minimally invasive percuta-neous bone graft funnel for the treatment of thoracolumbar vertebral fractures with injured vertebral bone graft in combination with percutaneous pedicle screw intemal fixation.Methods:Clinical data from 26 patients with thoracolumbar spine fractures without nerve injury admitted and treated between January 2020 and June 2021 were retrospectively analyzed.There were 13 males and 13 females,aged 51.23±9.56 years(33-65 years old).All the patients were single-segment injury,and there were 2 cases of T12,8 cases of L1,8 cases of L2,5 cases of L3,and 3 cases of L4.Internal fixation was performed using percutaneous pedicle screw fixa-tion across the injured vertebrae,followed by intemal implantation of autologous iliac bone into the injured vertebrae via a homemade minimally invasive bone graft funnel.The operative time,intraoperative bleeding and complications were recorded;The visual analogue scale(VAS)of pain,Oswestry disability index(ODI),com-pression ratios of the anterior and middle heights of the injured vertebrae,and sagittal Cobb angle were ob-served and statistically analyzed before operation and at 1 week after operation and final follow-up.Results:All the patients were successfully operated with a follow-up of 12-22 months(15.19±2.51 months).The opera-tive time was 84.62±12.88min,blood loss was 55.58±12.44mL.There were no complications such as wound infection and spinal cord injury,and one patient presented with caudal adventitial loosening of a screwed pedicle.Compared with the preoperative period,the postoperative 1 week and final follow-up anterior height compression rate[(6.89±7.25)%,(10.28±7.50)%]and mid-height compression rate[(7.11±5.75)%,(10.63±6.24)%]of the injured vertebrae,Cobb angle(4.38°±7.77°,2.14°±7.78°),VAS score(3.35±0.56,1.73±0.45)and ODI[(41.96±3.82)%,(13.77±2.42)%]were significantly improved(P<0.05).Compared with 1 week postoperatively,at the final follow-up,the patients had a slight increase in the compression rate of the anterior[(10.28±7.50)%]and middle[(10.63±6.24)%]heights of the injured vertebral body,a slight decrease in the Cobb angle(2.14°±7.78°)and a significant improvement in VAS scores(1.73±0.45)and ODI[(13.77±2.42)%](P<0.05).Conclusions:For patients with thoracolumbar fractures without nerve injury,using a homemade minimally invasive bone graft funnel for transforaminal bone grafting in combination with percutaneous pedicle screws can effectively restore the vertebral body height and correct the kyphosis deformity.
7.Role of inflammatory factors in diabetic ulcers and prospects of traditional Chinese medicine intervention
Yuchang ZHANG ; Xiang CHEN ; Bo HE ; Shenghua LI ; Xiangqian MU ; Weiqiang SUN ; Li ZHANG ; Jie CHEN
Chinese Journal of Tissue Engineering Research 2024;28(34):5544-5551
BACKGROUND:Diabetic ulcers are a common complication of diabetes mellitus,which is manifested as foot ulcers complicated with infection,long treatment cycle,high disability rate and mortality rate,and brings a heavy burden to patients and social care. OBJECTIVE:To review the mechanism of action and the latest treatment progress of traditional Chinese medicine(TCM)in the treatment of diabetic ulcers,and to provide a basis for further theoretical research and clinical application. METHODS:CNKI,WanFang Database and PubMed database were searched for relevant literature using the keywords of"diabetic ulcer,medicinal herb,inflammation,interleukin-1β,interleukin-6,tumor necrosis factor,hypersensitive C-reactive protein,γ-interferon,interleukin-4,interleukin-10"in Chinese and English,respectively.The relevant literature in recent years was searched,and finally 75 articles were included for review. RESULTS AND CONCLUSION:The high glucose environment of the body will increase the level of pro-inflammatory cytokines,so that diabetic ulcer wounds are in a state of chronic inflammatory response for a long time,and difficult to heal or even not heal.TCM has summed up a lot of experience in the long-term struggle with diabetic ulcer.At present,TCM divides diabetic ulcers into four syndrome types:dampness and heat poison syndrome,blood and blood stasis obstruction pattern,heat poison injury Yin pattern,and Qi and blood deficiency syndrome,as well as representative prescriptions for treatment.According to their clinical characteristics,diabetic ulcers can be also divided into three stages:primary,middle and late stages.Different treatment methods are proposed:"clear method,""warm and clear combined use"and"maintenance method."Under the guidance of dialectical typing and staging of TCM,TCM monomers,extracts and compounds inhibit the inflammatory response and promote the healing of diabetic ulcers by down-regulating the expression of pro-inflammatory factors and/or up-regulating the expression of anti-inflammatory factors.Compared with modern medicine,TCM has significant advantages in the treatment of diabetic ulcers.There are many TCM monomers,extracts and compounds for the treatment of diabetic ulcers,such as angelica,curcumin,improved Chonghe ointment,Sanhuang blood exhaustion prescription and sore-ulcer I.formula,etc.It has been found that TCM for the treatment of diabetic ulcers is mainly heat-clearing and detoxifying,invigorating blood circulation and removing blood stasis,and amassing sores and muscle-building drugs,and the frequency of use,treatment scope and therapeutic effect of TCM compounds are obviously better than those of TCM monomers and extracts.Among them,the most commonly used are the Sanhuang blood exhaustion prescription and the sore-ulcer I as well as prescription for the treatment of damp heat toxicity syndrome and Zizhu ointment for the treatment of non-ischemic diabetic ulcers.However,there are also some shortcomings in the treatment of diabetic ulcers with TCM.First,there are few clinical syndrome studies on diabetic ulcers.Secondly,there are a wide variety of TCM monomers,extracts and compounds for the treatment of diabetic ulcers,and the relevant research is insufficiently in-depth.Finally,the research on the mechanism underlying TCM treatment of diabetic ulcers is still in the preliminary exploration stage,and the mechanism of action still needs to be further explored.In the future,it is necessary to strengthen the research on the pharmacology of TCM and the clinical syndrome of diabetic ulcers,analyze the potential targets and related signaling pathways of TCM in the treatment of diabetic ulcers,give full play to the therapeutic advantages of TCM with multiple targets,multiple pathways,multiple levels and multiple systems,and develop TCM with significant efficacy,active ingredients and clear targets.
8.The clinicopathologic characteristics and prognosis of 65 differentiated thyroid cancer patients with lung metastasis
Yongsheng JIA ; Dapeng LI ; Yan ZHANG ; Libu ZHANG ; Xiaoyong YANG ; Linfei HU ; Dong DAI ; Xiangqian ZHENG
Chinese Journal of General Surgery 2024;39(9):707-712
Objectives:To explore the clinicopathological characteristics and prognostic risk factors in differentiated thyroid cancer (DTC) patients with lung metastasis.Methods:Patients of differentiated thyroid cancer with lung metastasis in Tianjin Medical University Cancer Institute & Hospital were enrolled from Jan 1, 2010 to Dec 31, 2016. The clinicopathological characteristics and risk factors affecting the prognosis were analyzed retrospectively.Results:A total of 65 DTC patients with lung metastasis were collected in this study, including 56 patients with papillary thyroid carcinoma and 9 patients with follicular thyroid carcinoma; 23 patients died and 42 patients survived. Median follow-up time was 99.4 months. There were 18 males, 47 females. Age 14-73 years, median age 51.0 years. High incidence of DTC lung metastasis was 50-59 years for males and 40-49 years for females. Based on AJCC 8th edition TNM staging, there were 37 patients in stage Ⅱ (age <55 years) and 28 patients in stage Ⅳb (age ≥55 years). The number of 131Ⅰ treatments performed ranged from 1 to 13 times, with a mean of 3.9 times. Firty-five patients were with lung metastasis alone, and 10 patients with lung metastasis and distant metastasis in other organs. Eleven patients suffered from hypoparathyroidism after 131Ⅰ treatment. COX multifactorial regression analysis found that age was independent risk factor affecting prognosis, multiple organs distant metastasis and pathologic subtype were relative risk factors affecting prognosis. There was no correlation between gender, number of 131Ⅰ treatments and poor prognosis. Conclusions:DTC has a high survival even with the occurrence of lung metastasis, but the prognosis is poor when combined with multi-organ metastasis. Age and multiple organ distant metastatic are independent risk factors affecting prognosis.
9.Application of “Cloud Pharmaceutical Service System”in the medication therapy management for chronic airway diseases
Yinping SHI ; Xue LIU ; Xiangqian WANG ; Sai DUAN ; Yan LI ; Xin HUANG ; Rui YANG
China Pharmacy 2023;34(7):878-882
OBJECTIVE To evaluate the effect of “Cloud Pharmacy Service System” electronic management platform in medication therapy management (MTM) of chronic airway diseases. METHODS MTM module setting of “Cloud Pharmaceutical Service System” was introduced. Totally 371 patients with chronic airway disease admitted to our hospital from January 2021 to March 2022 were selected for MTM based on the “Cloud Pharmacy Service System”. The standardization of inhalation device mastery and compliance of patients before and after intervention were compared with self-made inhalation device evaluation scale and Morisky medication adherence scale-8 (MMAS-8). The satisfaction of patients with pharmacist after intervention was investigated. RESULTS “Cloud Pharmaceutical Service System” is mainly divided into 4 modules, such as medication therapy review, pharmacist intervention, personal medication record and the medication-related action plan, other functions. Among 371 patients, there were 237 outpatients (142 cases of asthma, 95 cases of chronic obstructive pulmonary disease) and 134 inpatients (19 cases of asthma and 115 cases of chronic obstructive pulmonary disease). The score of the patients using inhalation device increased from 74.76±24.71 before intervention to 99.45±2.12 after intervention (P<0.05). MMAS-8 score increased from 7.14± 1.15 before intervention to 7.88±0.44 after intervention (P<0.05). The degree of patients’ satisfaction with pharmacists reached 100% after intervention. CONCLUSIONS “Cloud Pharmacy Service System” is helpful to improve the effects of pharmaceutical service for patients with chronic airway disease by providing whole-process, online, visual and immediate MTM.
10.A novel mutation in the LSS gene caused congenital hypotrichosis type 14 in a Chinese family
Xiangqian LI ; Yongping ZHAO ; Mengxi ZHAO ; Cheng ZHOU
Chinese Journal of Dermatology 2023;56(7):672-676
Objective:To report a patient with congenital hypotrichosis 14 complicated by hypergonadotropic hypogonadism, and to analyze LSS gene mutations in his family.Methods:Peripheral blood samples were collected from the proband and his parents with normal phenotypes, and genomic DNA was extracted from these samples. Second-generation sequencing was performed to screen suspected mutations among hereditary hair disorder-associated genes. Possible causative genes were identified from the screened suspected variants based on clinical phenotypes, and verified using Sanger sequencing. The identified variants were also verified in healthy controls, and searched in the Human Gene Mutation Database, 1000 Genomes Project database, and ExAC database.Results:The patient harbored a homozygous missense mutation c.812T>C (p.Ile271Thr) in exon 8 of the LSS gene, and his parents were the mutation carriers. The variant was not present in healthy controls and databases.Conclusion:The homozygous mutation c.812T>C in the LSS gene may be the causative mutation for congenital hypotrichosis 14 in this family, which was a novel mutation that had not been reported before.

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