1.Clinical comprehensive evaluation of four nucleoside (acid) analogues in the treatment of chronic hepatitis B
Jiayi QIN ; Kuifen MA ; Wenya SHAN ; Lijuan ZHAO ; Lin LIU ; Liangping WANG
China Pharmacy 2026;37(7):859-863
OBJECTIVE To conduct a comprehensive clinical evaluation of four nucleoside (acid) analogues that have been approved and marketed in China, such as entecavir, tenofovir disoproxil fumarate, tenofovir alafenamide fumarate, and tenofovir amibufenamide. METHODS According to the Guideline for the Administration of Clinical Comprehensive Evaluation of Drugs (2021 edition, trial implementation), a comprehensive search was conducted across databases including CNKI, Wanfang Data, VIP, PubMed, the Cochrane Library, Embase, as well as relevant official websites. Drug package inserts, guidelines, consensus statements, and relevant literature for the four drugs were collected and subjected to a comprehensive evaluation across six dimensions: safety, efficacy, cost-effectiveness, innovativeness, suitability, and accessibility. RESULTS The scores for entecavir in terms of safety, efficacy, cost-effectiveness, innovativeness, suitability, and accessibility-along with its comprehensive score-were 13, 14, 13, 10, 18, and 6, totaling 74 points. For tenofovir disoproxil fumarate, the respective scores were 13, 17, 18, 8, 18, and 7, totaling 81 points. For tenofovir alafenamide fumarate, the scores were 14, 20, 12, 8, 18, and 5, totaling 77 points. Finally, for tenofovir amibufenamide, the scores were 10.5, 17, 10, 6, 15, and 4, totaling 62.5 points. CONCLUSIONS Tenofovir disoproxil fumarate, with the highest score, is recommended as the first-line option, suitable for adults, children, and pregnant women. However, caution is warranted for potential renal impairment. Tenofovir alafenamide fumarate is recommended as a second-line alternative, particularly for individuals at high risk for bone and renal damage. Entecavir has a score similar to tenofovir alafenamide fumarate but requires dosing on an empty stomach and dose adjustment based on renal function of patients. Tenofovir amibufenamide received the lowest score and is considered a weak recommendation. The clinical application of these nucleoside (acid) analogues should be individualized based on the patient’s age, physiological status, and risk factors.
2.Analysis of Microbiological and Parasitic Testing Results for Laboratory Animals in Jiangxi Province, 2020-2024
Fangping XIAO ; Lijuan XIONG ; Bo JIA ; Huan LIU ; Yongbing LUO ; Xiaorong WAN
Laboratory Animal and Comparative Medicine 2026;46(1):119-126
Objective To assess the current status of microbial and parasitic quality control for laboratory animals in Jiangxi Province by analyzing microbiological and parasitic test results from production facilities between 2020 and 2024, and to provide a basis for enhancing quality control measures. MethodsIn accordance with the current national standards for laboratory animals at the time of testing, the Jiangxi Provincial Laboratory Animal Quality Inspection Station (affiliated to Institute of Occupational Medicine of Jiangxi) conducted microbial and parasitic testing on 451 laboratory animals of 4 species from 6 laboratory animal production units in Jiangxi Province between 2020 and 2024, and analyzed the quality status of laboratory animals in the province. ResultsPasteurella pneumotropica was detected in one mouse sample in 2020, with a detection rate of 5.00%. Pseudomonas aeruginosa was detected in one mouse sample and mouse hepatitis virus antibody was detected in another mouse sample in 2023, with a detection rate of 2.78%, respectively. No microorganisms or parasites that should be excluded from SPF grade mice as specified in the national standards were detected in 2021, 2022, or 2024, with a qualification rate of 100.00%. Pasteurella pneumotropica was detected in four rat samples in 2020, with a detection rate of 20.00%. Pseudomonas aeruginosa was detected in two rat samples in 2021, with a detection rate of 10.00%, and Tyzzer's disease agent antibody was detected in four rat samples in 2024, with a detection rate of 10.00%. No microorganisms or parasites that should be excluded from SPF grade rats as specified in the national standards were detected in 2022 or 2023, with a qualification rate of 100.00%. For rabbits and guinea pigs, no microorganisms or parasites required to be tested for conventional grade rabbits and guinea pigs as specified in the national standards were detected from 2020 to 2024, with the qualification rate of both species reaching 100.00%. ConclusionBased on the microbial and parasitic testing results, the quality of rabbits and guinea pigs in Jiangxi Province is satisfactory. However, some issues persist with rats and mice. It is recommended to enhance the quality of experimental animals in Jiangxi Province by increasing the frequency of random inspections by quality testing units or by improving the self-inspection capabilities of production and user facilities.
3.Pharmaceutical care for a case of severe dermal toxicity induced by durvalumab
Liulian JI ; Zhengbi QIN ; Pengcheng LIU ; Xiaowen DENG ; Lili LIU ; Lijuan YAO ; Tingting LIU ; Pingchen GU
China Pharmacy 2026;37(1):88-91
OBJECTIVE To provide references for the accurate identification and management of immune-related cutaneous adverse events (irCAEs) caused by durvalumab, and ensuring safe clinical drug use. METHODS Clinical pharmacists participated in the diagnosis and treatment process of a patient with gallbladder cancer who developed irCAEs caused by durvalumab. The clinical pharmacists systematically reviewed the patient’s past medical history and medication history, and assisted physicians in assessing the association between adverse drug reactions and administered drugs. Meanwhile, the clinical pharmacists conducted a graded assessment of the adverse reaction, proposed recommendations such as discontinuing durvalumab and adjusting the administration regimen of glucocorticoids, assisted physicians in restarting immunotherapy, and carried out medication education and other pharmaceutical care. RESULTS The occurrence of irCAEs in this patient was “highly likely” related to durvalumab and was classified as severe. The physicians adopted the clinical pharmacist’s opinion, and after symptomatic treatment, the patient’s skin symptoms improved, and discharged with medication. After the completion of glucocorticoid therapy for the patient, the physician restarted immunotherapy with tislelizumab, and no related adverse reactions occurred again in the patient. CONCLUSIONS Durvalumab can cause irCAEs such as severe skin maculopapular rash. In clinical practice, it is crucial to promptly identify and discontinue suspicious drugs, immediately implement effective symptomatic treatment measures, and actively resume immunotherapy to ensure the continuity and safety of the patient’s treatment.
4.Correlation between seasonal blood pressure variability and total burden score of cerebral small vessel disease with different severities
Journal of Apoplexy and Nervous Diseases 2026;43(1):10-14
Objective To investigate the correlation between seasonal blood pressure (BP) variability and total burden score of cerebral small vessel disease (CSVD) with different severities. Methods The patients with CSVD who were consecutively admitted were enrolled, and according to the total burden score based on head MRI, they were divided into control group (CSVD 0 points), mild group (CSVD 1‒2 points), and moderate-to-severe group (CSVD 3‒4 points).General information was collected from all patients, as well as 24-hour ambulatory blood pressure monitoring (ABPM) during warm and cold seasons. The correlation between ABPM parameters in different seasons and the imaging burden of different severities of CSVD was analyzed. Results A total of 145 patients were enrolled, with 29 patients in the control group,64 in the mild group, and 52 in the moderate-to-severe group.Compared with the control group, the mild group and the moderate-to-severe group had significantly higher age(F=9.721,P=0.001), 24-hour systolic blood pressure (SBP) in hot season(F=6.572,P=0.002), daytime SBP in hot season(F=6.460,P=0.002), daytime diastolic blood pressure (DBP) in hot season(F=5.802,P=0.004), nighttime SBP in hot season(F=8.508,P<0.001). Compared with the control group, the moderate-to-severe group had significantly higher levels of 24-hour DBP in hot season(F=4.564,P=0.012), nighttime DBP in hot season(F=6.294,P=0.002),24-hour SBP in cold season(F=7.012,P=0.001), 24-hour DBP in cold season(F=4.527,P=0.012),daytime SBP in cold season(F=5.708,P=0.004),daytime DBP in cold season(F=3.138,P=0.046),nighttime SBP in cold season(F=9.154,P<0.001), and nighttime DBP in cold season(F=8.006,P=0.001). Compared with the control group, the mild group and the moderate-to-severe group had a significantly higher proportion of patients with abnormal BP circadian rhythm in hot season (χ2=13.059,P=0.001) and cold season (χ2=10.091,P=0.006).The ordinal logistic regression analysis showed that age (OR=1.147, 95%CI 1.084‒1.214) was an independent risk factor for CSVD, and compared with the patients with dipper-type blood pressure in hot season, the patients with non-dipper blood pressure pattern had a risk of CSVD increased by 13.282 times (OR=13.282, 95% CI 2.379‒74.159), while those with reverse-dipper blood pressure pattern had a risk of CSVD increased by 25.569 times(OR=25.569,95%CI 3.061‒213.551). Conclusion The imaging burden score of CSVD increases with the increase in age and the proportion of abnormal circadian blood pressure pattern in hot season, and both age and abnormal circadian blood pressure pattern in hot season are independent risk factors for the imaging burden of CSVD.
5.Association of vegetables and fruits intake with depressive symptoms in Yunnan multi ethnic first year junior high school students
CHEN Yiyao*, DU Yeming, YIN Wan, HUANG Jianhong, LIU Zihan, JIANG Yinghong, YU Qiaoying, PAN Lijuan, XU Honglü ;
Chinese Journal of School Health 2026;47(1):32-36
Objective:
To explore the association of vegetables and fruits intake with depressive symptoms among multi ethnic first year junior high school students in Yunnan Province, so as to provide data support for preventing and reducing depressive symptoms among first year junior high school students.
Methods:
From October to December 2022, a cluster random sampling method was used to select 8 500 first year junior high school students from 11 ethnic minority areas in Yunnan Province (Fugong County, Longling County, Longyang District, Luchun County, Mojiang County, Nanjian County, Qiaojia County, Shuangjiang County, Tengchong City, Yuanmou County, Zhenyuan County), to investigate with a questionnaire. The Dietary Frequency Questionnaire was used to collect dietary behavior datas, and the Chinese version of Depression Anxiety Stress Scale-21 (DASS-21) was used to assess depressive symptoms. The generalized linear model was used to analyze the association of vegetable and fruit intake with depressive symptoms in students, and stratified analysis was performed according to ethnicity.
Results:
The detection rate of depressive symptoms among first year junior high school students in Yunnan Province was 29.5%. The detection rates of depressive symptoms in Han and minority first year junior high school students were 26.9% and 31.6%. After controlling for demographic variables such as gender, age, family residence and other confounding factors, the generalized linear model analysis results showed that the intake of leafy vegetables ( β= -0.07 , 95%CI =-0.12 to -0.01), flat fruits ( β=-0.06, 95%CI =-0.12 to -0.00) and hot natured fruits ( β=0.11, 95%CI = 0.04- 0.17) were associated with depressive symptoms in Han first year junior high school students (all P <0.05). The intake of melon and fruit vegetables ( β=-0.06, 95%CI =-0.11 to -0.01) and hot natured fruits ( β=0.06, 95%CI =0.01-0.12) were associated with depressive symptoms in ethnic minority first year junior high school students (both P <0.05).
Conclusions
The intake of vegetables and fruits among multi ethnic first year junior high school students in Yunnan Province is related to the risk of depressive symptoms. It is suggested to strengthen the consumption guidance and education of vegetables and fruits to prevent depressive symptoms among first year junior high school students.
6.Analysis of common non-bacterial pathogens in hospitalized children with acute respiratory infections: a multicenter study in four regions of Fujian Province in 2023
Lin CAI ; Xiaoman GAO ; Fucun ZHU ; Xiuhua LIU ; Wenlong ZHOU ; Shaohua GE ; Lijuan ZHUANG ; Guanglin ZHANG ; Xiaoping LAI ; Ting LIU
Chinese Journal of Preventive Medicine 2025;59(10):1665-1675
Objective:To analyze the distribution and epidemiological characteristics of common non-bacterial pathogens in hospitalized children with acute respiratory tract infections(ARTI)from a multi-center study covering 4 regions in Fujian Province in 2023.Methods:A retrospective cohort study was conducted using medical record analysis.A total of 22 769 hospitalized children with ARTI were enrolled from January to December 2023 across seven regional pediatric medical centers in Fujian Province (covering four major geographical divisions of Fuzhou, Nanping, Sanming and Longyan; all selected hospitals were regional children′s medical centers).Using single-tube multiplex PCR with fragment analysis on a Sanger sequencing platform, the nucleic acids of 11 common non-bacterial respiratory pathogens were tested in nasopharyngeal swabs collected from 22 769 children. These pathogens included influenza A virus(FluA), influenza B virus(FluB), parainfluenza virus(PIV), respiratory syncytial virus (RSV), adenovirus (ADV), human rhinovirus (HRV), human bocavirus (HBoV), human coronavirus (HCoV), human metapneumovirus(HMPV), Mycoplasma pneumoniae(MP), and Chlamydia (Ch). Count data were described as [ n(%)], and the chi-square test/Fisher′s exact test was used to compare the differences in rates between groups. Epidemiological features, including positive detection rates, pathogen profiles, and correlations with region, sex, age and month, were analyzed. Results:Among 22 769 children with ARTI, pathogens were detected in 16 213 cases (71.21%), including 13 340 single infections (58.59%).The detection rates of single pathogens in descending order were human rhinovirus (HRV, 12.95%), Mycoplasma pneumoniae(MP, 12.27%), respiratory syncytial virus(RSV, 11.12%), influenza A virus (Flu-A, 7.98%), parainfluenza virus(PIV, 4.66%), human metapneumovirus(HMPV, 4.60%), adenovirus(ADV, 2.70%), human bocavirus(HBoV, 0.84%), human coronavirus(HCoV, 0.82%), influenza B virus(Flu-B, 0.47%) and Chlamydia(Ch, 0.18%).Mixed infections occurred in 2 873 cases(12.62%), primarily dual infections(2 679 cases).Regional analysis revealed significant disparities:Luoyuan County Hospital (Fuzhou) exhibited the highest total detection rate(86.59%, 1 414/1 633)and mixed infection rate(23.27%, 380/1 633)(both P<0.001), with notably elevated MP (26.39%, 431/1 633);Jian′ou City Hospital(Nanping) ranked second for Flu-A(14.21%, 409/2 879), RSV(13.20%, 380/2 879) and mixed infections(17.12%, 493/2 879);Lianjiang County Hospital(Fuzhou) showed distinct prevalence of Flu-A(10.68%, 130/1 217), PIV(6.00%, 73/1 217), and HBoV(1.73%, 21/1 217); Yong′an City Hospital (Sanming) reported high MP (26.07%, 238/913) and RSV(12.38%, 113/913);Shaowu City Hospital(Nanping) was dominated by MP (18.60%, 407/2 188) and HRV(13.39%, 293/2 188); Tingzhou Hospital(Longyan) had the highest HRV (17.88%, 407/2 276) and Flu-B (0.75%, 17/2 276); and Fuzhou Children′s Hospital showed elevated ADV(3.38%, 394/11 663) and HCoV(1.08%, 126/11 663). Except for Flu-B(0.47%, 108/22 769; P=0.054) and Ch(0.18%, 40/22769; P=0.900), all pathogens and mixed infections exhibited significant regional variations ( P<0.05).Gender analysis indicated higher detection rates of HRV, RSV, Flu-A, ADV, PIV, HBoV and mixed infections in males, while MP, HMPV, Flu-B, HCoV, and Ch were more prevalent in females, with statistically significant differences for HRV and MP (both P<0.001). Age stratification showed the highest overall detection rate in the 3-<6 years group (75.48%; P<0.001): RSV and Ch peaked in infants (<1 year), HRV, PIV, ADV and HBoV in toddlers (1-<3 years), HMPV, HCoV, and mixed infections in preschool children (3-<6 years), and MP, Flu-A and Flu-B in older children (6-<18 years).Analyzing the prevalent months, the monthly prevalence trends of pathogens in various regions are similar.Seasonal trends demonstrated year-round HRV activity (peaking in spring/autumn), MP prevalence in autumn/winter, RSV surges in spring-summer (April-June) and late summer-autumn (August-October), and Flu-A predominanced in winter-spring. Conclusion:Multiplex PCR with fragment analysis demonstrated high diagnostic efficacy. The top 4 non-bacterial pathogens in Fujian Province′s ARTI-hospitalized children in 2023 were HRV, MP, RSV and Flu-A. Pathogen distribution exhibited significant regional, age and seasonal variations, emphasizing the need for targeted prevention strategies.
7.Clinical value of assessing serum N-glycomic fingerprint profiling for liver inflammation grading in patients with chronic hepatitis B
Xuewen XU ; Huijuan FENG ; Xiaojuan SUN ; Xiao XIAO ; Lilin SHEN ; Zhiyuan GAO ; Lijuan LIU ; Chunfang GAO
Chinese Journal of Laboratory Medicine 2025;48(1):76-84
Objective:To explore the clinical application value of serum N-glycan profiles for evaluating the severity of liver tissue inflammation in patients with chronic hepatitis B (CHB).Methods:A total of 221 CHB patients who underwent liver biopsy at Mengchao Hepatobiliary Hospital of Fujian Medical University from January 2018 to December 2020 were retrospectively enrolled. The Scheuer scoring system was used to assess the histological inflammation grade of the liver tissue. Serum N-glycan levels were measured using DNA sequencer-assisted N-glycan fingerprinting (NGFP). Using the upper limit of the alanine aminotransferase (ALT) reference value (40 U/L) as a cutoff, logistic regression models were developed to construct diagnostic models under two scenarios: normal ALT or abnormal ALT. Models based on serum N-glycan levels and serum N-glycan levels combined with routine laboratory indicators, were used to non-invasively evaluation of various pathological grades of liver tissue inflammation in CHB patients. The DeLong test was used to compare the diagnostic efficacy of the models by analyzing the areas under the receiver operating characteristic curve (AUC). Glycosylation-related gene expression differences associated with varying degrees of liver inflammation were analyzed using the Gene Expression Omnibus (GEO) database.Results:In CHB patients with normal ALT level, the relative abundances of N-glycan structure peak 1 (NGA2F) and peak 2 (NGA2FB) increased with higher liver inflammation grades, while the relative abundance of peak 5 (NA2) decreased ( P<0.05). The AUCs of the HIS-G model (HIS-G A) and its enhanced version (HIS-G A Plus) for identifying significant inflammation and necrosis (≥G2, indicating the initiation of antiviral therapy) were 0.805 (95% CI 0.690-0.899) and 0.904 (95% CI 0.821-0.960), respectively. In CHB patients with ALT>40 U/L, the relative abundances of peaks 1 (NGA2F), 2 (NGA2FB), and 3 (NG1A2F) increased with higher liver inflammation grades, while the relative abundances of peaks 8 (NA3) and 11 (NA4) decreased ( P<0.05). The AUCs of the HIS-G model (HIS-G B) and its enhanced version (HIS-G B Plus) for identifying significant inflammation (≥G2) were 0.810 (95% CI 0.727-0.889) and 0.838 (95% CI 0.754-0.901), respectively. With increasing liver inflammation grades, the expression levels of four glycosyltransferase genes (CHST4, FUT8, SLC51B, and ST8SIA4) were significantly upregulated ( P<0.05). Conclusions:Serum N-glycan biomarker models can be used to assist in evaluating the severity of liver tissue inflammation in CHB patients with both normal and abnormal ALT levels.
8.The experience of exclusion diet in children with Crohn's disease and their parents:a qualitative study
Lijuan WEI ; Jialin HUANG ; Huan YANG ; Miaoxian ZHANG ; Chaomi ZHANG ; Lanlan GENG ; Liya XIONG ; Liying LIU
Chinese Journal of Nursing 2025;60(17):2131-2136
Objective To explore the experiences of children with Crohn's disease and their parents regarding the exclusion diet,and to provide a basis for formulating personalized dietary guidance programs.Methods A total of 12 children with Crohn's disease and their parents,hospitalized in the Department of Gastroenterology at a tertiary children's hospital in Guangzhou from June to December 2023,were selected as research subjects using objective sampling.Semi-structured interviews were conducted,and the data were analyzed and refined using Colaizzi's seven-step analysis method.Results Totally 3 themes and 14 sub-themes were extracted.①Lack of cognition and trust in Crohn's disease exclusion diet(unfamiliarity with the contents of the diet,misunderstanding of the diet's preparation,inadequate response to daily exclusion diet practices,parents' distrust in the exclusion diet).②The practical challenges of the Crohn's disease exclusion diet(the challenge of personal dietary preferences,the challenge of family meal preparation,the challenge of school feeding,food intolerance,feelings of monotony and weariness following the exclusion diet).③Innovations in practicing the Crohn's disease exclusion diet(managing taste fatigue,managing visual fatigue,innovative cooking methods,prioritizing exclusive enteral nutrition followed by the exclusion diet,overcoming the desire for universal food).Conclusion Children with Crohn's disease and their parents exhibit insufficient cognition and trust in the exclusion diet and face various challenges in practice.Clinical medical staff should adopt personalized coping strategies tailored to the specific circumstances of each child.
9.Construction and application of a bowel preparation drinking water program for colonoscopy based on the characteristics of gastric emptying in the elderly
Lijuan ZHANG ; Ying LIU ; Bei WANG ; Haiyan SHI ; Ting LI ; Yanlan MA
Chinese Journal of Nursing 2025;60(20):2472-2478
Objective To explore the characteristics of gastric emptying in the whole process of drinking water for colonoscopy in the elderly,and to develop an elderly-friendly drinking water program,thereby improving the comfort and the quality of bowel preparation.Methods From April to September 2024,gastric ultrasound was used to monitor gastric emptying indicators in the whole process of drinking water for colonoscopy in the elderly,summa-rizing its physiological features.On this basis,in October 2024,through literature review and expert argumentation,a bowel preparation drinking water program that meets the characteristics of gastric emptying in the elderly was de-veloped.A convenience sample of 90 elderly patients scheduled for colonoscopy at 2 tertiary hospitals in Beijing was enrolled from November 2024 to January 2025.A non-concurrent controlled trial was conducted:an experimen-tal group from December 2024 to January 2025 received the new elderly-friendly drinking water program,while a control group in November 2024 followed the conventional program.Outcomes included drinking comfort assessed via Visual Analogue Scale(VAS),adverse events,total fluid intake volume and bowel preparation quality via Boston Bowel Preparation Scale(BBPS).Results The experimental group demonstrated superior VAS score(P<0.05),bowel preparation quality(P<0.05),total fluid intake(P<0.05),and higher compliance with optimal stool consistency(P<0.05),compared to the control group.The experimental group also exhibited a lower incidence of adverse events(P<0.05).No significant difference was observed in total bowel preparation duration between 2 groups(P>0.05).Conclusion The bowel preparation drinking water program based on the characteristics of gastric emptying in the elderly improved solution intake tolerance and bowel preparation quality,with practical implications for clinical implementation.
10.Clinical characteristics and genetic analysis of two children with Multiple mitochondrial dysfunction syndrome due to variants of IBA57 gene.
Qiuping WU ; Shan CHEN ; Lijuan LIU ; Xiangshu WEN ; Jingjing LI
Chinese Journal of Medical Genetics 2025;42(1):69-73
OBJECTIVE:
To investigate the clinical features and genetic variants associated with Multiple mitochondrial dysfunction syndrome (MMDS) type 3 in two children.
METHODS:
Two children diagnosed with MMDS type 3 at Zhuhai Maternal and Child Health Care Hospital in January 2021 were selected for this study. A retrospective analysis of their clinical data was carried out. Whole exome sequencing was conducted on the two children and their parents, followed by Sanger sequencing for candidate variants and bioinformatic analysis. Both children received comprehensive rehabilitative therapy and were followed up for 3 years. This study was approved by the Ethics Committee of Zhuhai Maternal and Child Health Hospital (Ethics No. 202380).
RESULTS:
The two MMDS type 3 children were monozygotic twin girls, aged 9 months, presenting with developmental regression, pyramidal signs, and other clinical manifestations. Cranial MRI revealed widespread abnormal signals and vacuolar changes in the white matter. Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the IBA57 gene, namely c.286T>C (p.Tyr96His) and c.307C>T (p.Gln103Ter). Sanger sequencing confirmed that these variants were inherited from their father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, both variants were classified as pathogenic (PM2_Supporting+PM3_Very Strong+PP3_Moderate; PVS1+PM2_Supporting+PM3). After treatment with vitamins, levocarnitine, ATP, coenzyme Q10, and other drugs, both children showed partial recovery of neurodevelopmental regression, with improvement in feeding and sleep. Over the 3-year follow-up, there was slow but progressive improvement in motor, language, and cognitive development.
CONCLUSION
The compound heterozygous variants c.286T>C (p.Tyr96His) and c.307C>T (p.Gln103Ter) of the IBA57 gene probably underlay the MMDS type 3 in the twin pair. Clinicians should be vigilant about the possibility of MMDS type 3 in children with neurodevelopmental regression and early cranial MRI findings indicating widespread white matter abnormalities with vacuolar changes, as these may be indicative of IBA57 gene variants.
Female
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Humans
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Infant
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Calcium-Binding Proteins/genetics*
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Exome Sequencing
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Genetic Testing/methods*
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Microfilament Proteins/genetics*
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Mitochondrial Diseases/genetics*
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Mutation
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Retrospective Studies
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Carrier Proteins


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