1.Comorbidity Mechanism Between Ulcerative Colitis and Atrial Fibrillation Based on "Gut Microbiota-gut-heart" Axis
Meiyu FENG ; Wenjing ZHANG ; Yihang DU ; Xuanye DING ; Yuanhui HU ; Haitai YUAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):276-281
The gut microbiota is regarded as the "eighth organ" of the human body and plays a critical regulatory role in the occurrence and progression of various diseases. Ulcerative colitis (UC) is a chronic inflammatory bowel disease with a complex etiology and a tendency toward recurrent episodes. In recent years, studies have shown that gut microbiota dysbiosis plays a key role in its pathological processes. Meanwhile, an increasing number of studies have demonstrated that imbalances in the gut microbiota and abnormalities in its metabolites are closely associated with the development of atrial fibrillation (AF). Although UC and AF belong to diseases of the digestive system and cardiovascular system, respectively, both exhibit systemic inflammatory characteristics and are often accompanied by gut microbiota dysregulation and abnormal metabolic products. However, systematic investigations into the mechanisms by which gut microbiota-derived metabolites act in these two diseases remain limited. Based on this, the present study adopts literature review and theoretical analysis methods, taking the "gut microbiota-gut-heart" axis as the entry point, to systematically summarize the signaling networks of three key classes of metabolites, i.e., short-chain fatty acids (SCFAs), bile acids (BAs), and trimethylamine N-oxide (TMAO), in the comorbidity mechanism of UC and AF. The findings indicate that these metabolites may activate key inflammatory pathways, such as NF-κB and NLRP3, thereby synergistically mediating intestinal barrier dysfunction and systemic inflammation and constructing a potential comorbidity network. On this basis, potential intervention strategies for the treatment of UC-AF comorbidity, including probiotic intervention and fecal microbiota transplantation, are further discussed. This study aims to provide new theoretical evidence and research perspectives for prevention and treatment strategies of cross-system diseases.
2.Effect of tele-supervised home-based pulmonary music therapy on chronic obstructive pulmonary disease
Wenjing ZHANG ; Hao LI ; Jiajia YUAN ; Huaining HU
Chinese Journal of Rehabilitation Theory and Practice 2026;32(3):337-344
ObjectiveTo explore the effect of tele-supervised home-based pulmonary music therapy on respiratory function, exercise capacity and clinical symptoms in patients with chronic obstructive pulmonary disease (COPD). MethodsA total of 96 COPD patients admitted to the Second People's Hospital of Lianyungang from January, 2023 to June, 2024 were selected. They were divided into control group and observation group (48 cases each) using block randomization combined with a random number table. The control group received routine treatment and nursing intervention, while the observation group added tele-supervised home-based pulmonary music therapy, for six months. Evaluations were conducted before intervention and one, three and six months after intervention. ResultsThree cases in the control group and two in the observation group dropped out. Compared to the control group, the observation group was better in forced expiratory volume in one second percentage of predicted (FEV1%) level six months after intervention (χ2 = 10.481, P < 0.001), maximal inspiratory pressure three months (Z = -2.045, P = 0.044) and six months (Z = -3.643, P = 0.033) after intervention, maximal expiratory pressure three months (Z = 2.111, P = 0.036) and six months (Z = 4.025, P < 0.001) after intervention, exercise capacity one month (t = 2.266, P = 0.028), three months (t = 3.943, P = 0.028) and six months (t = 6.703, P < 0.001) after intervention, fatigue scores three months (Z = -4.352, P < 0.001) and six months (Z = -5.718, P < 0.001) after intervention, clinical symptoms three months (t = -2.698, P = 0.007) and six months (t = -2.898, P = 0.003) after intervention, and clinical control levels three months (t = -3.402, P < 0.001) and six months (t = -5.036, P < 0.001) after intervention. ConclusionTele-supervised home-based pulmonary music therapy is beneficial in improving respiratory function, exercise capacity, fatigue, clinical symptoms and clinical control levels in patients with COPD.
3.Effect of tele-supervised home-based pulmonary music therapy on chronic obstructive pulmonary disease
Wenjing ZHANG ; Hao LI ; Jiajia YUAN ; Huaining HU
Chinese Journal of Rehabilitation Theory and Practice 2026;32(3):337-344
ObjectiveTo explore the effect of tele-supervised home-based pulmonary music therapy on respiratory function, exercise capacity and clinical symptoms in patients with chronic obstructive pulmonary disease (COPD). MethodsA total of 96 COPD patients admitted to the Second People's Hospital of Lianyungang from January, 2023 to June, 2024 were selected. They were divided into control group and observation group (48 cases each) using block randomization combined with a random number table. The control group received routine treatment and nursing intervention, while the observation group added tele-supervised home-based pulmonary music therapy, for six months. Evaluations were conducted before intervention and one, three and six months after intervention. ResultsThree cases in the control group and two in the observation group dropped out. Compared to the control group, the observation group was better in forced expiratory volume in one second percentage of predicted (FEV1%) level six months after intervention (χ2 = 10.481, P < 0.001), maximal inspiratory pressure three months (Z = -2.045, P = 0.044) and six months (Z = -3.643, P = 0.033) after intervention, maximal expiratory pressure three months (Z = 2.111, P = 0.036) and six months (Z = 4.025, P < 0.001) after intervention, exercise capacity one month (t = 2.266, P = 0.028), three months (t = 3.943, P = 0.028) and six months (t = 6.703, P < 0.001) after intervention, fatigue scores three months (Z = -4.352, P < 0.001) and six months (Z = -5.718, P < 0.001) after intervention, clinical symptoms three months (t = -2.698, P = 0.007) and six months (t = -2.898, P = 0.003) after intervention, and clinical control levels three months (t = -3.402, P < 0.001) and six months (t = -5.036, P < 0.001) after intervention. ConclusionTele-supervised home-based pulmonary music therapy is beneficial in improving respiratory function, exercise capacity, fatigue, clinical symptoms and clinical control levels in patients with COPD.
4.Effect of tele-supervised home-based pulmonary music therapy on chronic obstructive pulmonary disease
Wenjing ZHANG ; Hao LI ; Jiajia YUAN ; Huaining HU
Chinese Journal of Rehabilitation Theory and Practice 2026;32(3):337-344
ObjectiveTo explore the effect of tele-supervised home-based pulmonary music therapy on respiratory function, exercise capacity and clinical symptoms in patients with chronic obstructive pulmonary disease (COPD). MethodsA total of 96 COPD patients admitted to the Second People's Hospital of Lianyungang from January, 2023 to June, 2024 were selected. They were divided into control group and observation group (48 cases each) using block randomization combined with a random number table. The control group received routine treatment and nursing intervention, while the observation group added tele-supervised home-based pulmonary music therapy, for six months. Evaluations were conducted before intervention and one, three and six months after intervention. ResultsThree cases in the control group and two in the observation group dropped out. Compared to the control group, the observation group was better in forced expiratory volume in one second percentage of predicted (FEV1%) level six months after intervention (χ2 = 10.481, P < 0.001), maximal inspiratory pressure three months (Z = -2.045, P = 0.044) and six months (Z = -3.643, P = 0.033) after intervention, maximal expiratory pressure three months (Z = 2.111, P = 0.036) and six months (Z = 4.025, P < 0.001) after intervention, exercise capacity one month (t = 2.266, P = 0.028), three months (t = 3.943, P = 0.028) and six months (t = 6.703, P < 0.001) after intervention, fatigue scores three months (Z = -4.352, P < 0.001) and six months (Z = -5.718, P < 0.001) after intervention, clinical symptoms three months (t = -2.698, P = 0.007) and six months (t = -2.898, P = 0.003) after intervention, and clinical control levels three months (t = -3.402, P < 0.001) and six months (t = -5.036, P < 0.001) after intervention. ConclusionTele-supervised home-based pulmonary music therapy is beneficial in improving respiratory function, exercise capacity, fatigue, clinical symptoms and clinical control levels in patients with COPD.
5.Trend in disease burden of interstitial lung disease in China from 1990 to 2021
SUN Yuefeng ; GUO Sijia ; WEI Yuan ; HE Tiantian ; GUO An ; ZENG Zhaolu ; SUN Luyan ; DOU Wenjing ; SUN Zengtao
Journal of Preventive Medicine 2025;37(11):1124-1128
Objective:
To investigate the trend in disease burden of interstitial lung disease (ILD) in China from 1990 to 2021, so as to provide a reference for formulating prevention and control strategies for chronic respiratory diseases.
Methods:
Based on the Global Burden of Disease 2021 database, data on the number of incident cases, incidence, standardized incidence, number of deaths, mortality, standardized mortality, number of disability-adjusted life years (DALY), DALY rate, and standardized DALY rate of ILD in China were collected. The incidence, mortality, and DALY rate were used to analyze the disease burden of ILD. The estimated annual percentage change (EAPC) was employed to assess the trend in standardized incidence, standardized mortality, and standardized DALY rate of ILD from 1990 to 2021. Rate decomposition analysis was applied to identify the main contributing factors affecting the trend in disease burden.
Results:
In 2021, China reported 48 514 cases, 7 674 deaths, and 222 288 person-years of DALY due to ILD, representing increases of 155.43%, 159.70%, and 97.34%, respectively, compared with 1990. From 1990 to 2021, the standardized incidence and standardized mortality of ILD in China showed upward trends (EAPC=1.106% and 0.239%, both P<0.05), while the standardized DALY rate showed a downward trend (EAPC=-0.230%, P<0.05). From 1990 to 2021, the standardized incidence and standardized mortality among males showed upward trends (EAPC=1.199% and 0.520%, both P<0.05), while the trend in the standardized DALY rate was not statistically significant (P>0.05). Among females, the standardized incidence of ILD showed an upward trend (EAPC=0.966%, P<0.05), while the standardized mortality and standardized DALY rate showed downward trends (EAPC=-0.306% and -0.760%, both P<0.05). In 2021, the incidence, mortality, and DALY rate of ILD in China increased with age, peaking in the group aged ≥95 years at 14.84/105, 13.90/105, and 124.71/105, respectively. Across all age groups aged ≥55 years, the incidence, mortality, and DALY rate of ILD were consistently higher in males than in females. The increase in the number of incident cases, deaths, and DALY due to ILD in China from 1990 to 2021 was primarily influenced by population aging, with contribution rates of 42.65%, 68.25%, and 69.79%, respectively.
Conclusions
From 1990 to 2021, the incidence and mortality risk of ILD in China showed upward trends, while the disability risk demonstrated a downward trend. Males bore a heavier disease burden of ILD, and aging was identified as the primary factor contributing to the increased burden of ILD in China.
6.Analysis of cochlear reimplantation surgery and factors influencing postoperative auditory and speech function.
Qingling BI ; Zhongyan CHEN ; Yong LYU ; Wenjing YANG ; Xiaoyu XU ; Yan LI ; Yuan LI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(5):419-424
Objective:The aim of this study was to present an institution's experience with cochlear reimplantation(CRI), to assess surgical challenges and post-operative outcomes and to increase the success rate of CRI. Methods:We retrospectively evaluated data from 76 reimplantation cases treated in a tertiary center between 2001 and 2022. Clinical features include caused of CRI, type of failure, surgical issues, and auditory speech performance were analyzed. Categorical Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores were used to evaluate pre-and post-CRI outcomes. Our center's consecutive cohort of 1 126 patients had seven patients, while 69 patients were from other cochlear implant centers. Device failure was the most common cause of CRI(68/76), with the remaining cases including flap complications(3/76), magnet displacement(3/76), secondary meningitis(1/76), and foreign bodies around the implant(1/76). Postoperative auditory and speech outcome improved in 31.6%(24/76) of patients, remained unchanged in 63.2%(48/76), and decreased in CAP and SIR scores in 5.2%(4/76) of patients. Postoperatively, the seven patients with cochlear ossification and fibrosis scored lower on the overall CAP and SIR scale than non-ossification individuals, which is a significant factor in surgical success rates and auditory-speech outcomes. Conclusion:CRI surgery is a challenging but relatively safe procedure, and most reimplanted patients experience favorable postoperative outcomes. Medical complications and intracochlear damage are the main causes of poor postoperative results. Therefore, minimally invasive CI has a positive significance for reducing the difficulty of CRI surgery and improving the CI performance.
Humans
;
Cochlear Implantation/methods*
;
Retrospective Studies
;
Cochlear Implants
;
Male
;
Female
;
Postoperative Period
;
Treatment Outcome
;
Adult
;
Speech
;
Middle Aged
;
Postoperative Complications
;
Replantation
;
Cochlea/surgery*
7.Exploration on the effects of Yishen Tonglong Granules on cell proliferation and apoptosis in nude mice with androgen independent prostate cancer based on non classical Wnt signaling pathway
Wenxiong ZHU ; Wenjing XU ; Xi ZHANG ; Yifeng YUAN ; Qihua CHEN ; Guozheng QIN
International Journal of Traditional Chinese Medicine 2025;47(10):1404-1411
Objective:To explore the effects of Yishen Tonglong Granules (YSTLG) on cell proliferation and apoptosis in a nude mouse model of androgen independent prostate cancer subcutaneous transplantation based on non classical Wnt signaling pathway.Methods:The tumor-bearing nude mouse model was established using the human prostate cancer bone metastatic cell line PC-3. After successful modeling, the mice were equally divided into six groups using the random number table method: model group, Western medicine group, Chinese materia medica low-, medium-, and high-dosage groups, and Chinese materia medica-Western medicine combination group. Corresponding drug interventions were administered to each group. Following 28 consecutive days of drug administration, the nude mice were euthanized. Tumor tissues were harvested for pathological observation via HE staining. Cell proliferation was assessed by immunohistochemistry; apoptosis was detected using TUNEL assay; the expressions of non-canonical Wnt signaling pathway-related proteins (Wnt5a, Rac1, RhoA, NFATc1) were analyzed through Western blot and immunohistochemical methods.Results:THE staining results demonstrated that YSTLG could effectively ameliorate pathological alterations in tumor tissues. Compared with the model group, the Chinese materia medica low-, medium-, and high-dosage groups, as well as the Chinese materia medica-Western medicine combination group, exhibited reduced proliferation indices ( P<0.01), elevated apoptosis indices ( P<0.01), down-regulated protein expressions of Wnt5a, Rac1, RhoA, and NFATc1 ( P<0.01), and decreased optical density values of Wnt5a, Rac1, RhoA, and NFATc1 ( P<0.01). These effects displayed a dosage-dependent trend. The Chinese materia medica-Western medicine combination group achieved the most pronounced therapeutic outcomes. Conclusions:YSTLG may exert inhibitory effects on the proliferation of androgen-independent prostate cancer cells and promote apoptosis, possibly through suppression of the non-canonical Wnt signaling pathway. Furthermore, its combination with Wnt signaling inhibitors may exhibit synergistic therapeutic effects.
8.Distribution Tendency of Traditional Chinese Medicine Syndromes in Chronic Persistent Immunoglobulin A Nephropathy and Its Relationship with Prognosis
Kang ZHANG ; Long TANG ; Cun SHEN ; Mengdi WANG ; Yuan MENG ; Wenjing ZHAO
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(5):1052-1059
Objective To investigate the distribution of traditional Chinese medicine(TCM)syndromes in chronic persistent immunoglobulin A nephropathy(IgAN)and to explore the relationship between TCM syndromes and prognosis based on real-world research.Methods From January 2018 to January 2024,a total of 80 patients with chronic persistent IgAN who were admitted to Beijing Hospital of Traditional Chinese Medicine Affiliated to Capital Medical University were included.The clinical baseline data and prognosis-related information were collected.The main outcome indicators were defined as renal failure events of glomerular filtration rate(eGFR)decreased by>50%,serum creatinine doubled or end-stage renal disease(ESRD).The distribution of TCM syndromes in chronic persistent IgAN and the relationship between different deficiency syndromes and prognosis were preliminarily discussed.Results(1)Among the 80 patients with chronic persistent IgAN,the syndrome manifestations with an occurrence frequency of more than 30%in descending order were foamy urine(75.00%),fatigue and lassitude(71.25%),waist ache(61.25%),dry mouth(31.25%),lower extremity edema(31.25%),aversion to cold and cold limbs(30.00%),and insomnia(30.00%).(2)The commonly-seen root-deficiency syndrome in patients with chronic persistent IgAN was qi and yin deficiency syndrome,with a total of 28 cases(35.00%).And other root-deficiency syndromes were spleen and kidney yang deficiency syndrome in 22 cases(27.50%),lung and spleen qi deficiency syndrome in 15 cases(18.75%),and liver and kidney yin deficiency syndrome in 15 cases(18.75%).The commonly-seen complicated syndrome was water-damp syndrome,with a total of 17 cases(21.25%).The other complicated syndromes were damp-heat syndrome in 15 cases(18.75%),blood-stasis syndrome in 9 cases(11.25%),phlegm-damp syndrome in 7 cases(8.75%),turbidity-toxin syndrome in 5 cases(6.25%),liver depression syndrome in 3 cases(3.75%),and cold-damp syndrome in 1 case(1.25%).(3)Among the 80 patients with chronic persistent IgAN,21 cases(26.25%)had renal failure events,and their syndrome types were lung and spleen qi deficiency syndrome in 9 cases(60.00%),qi and yin deficiency syndrome in 3 cases(10.71%),liver and kidney yin deficiency syndrome in 3 cases(20.00%),and spleen and kidney yang deficiency syndrome in 6 cases(27.27%).The incidence of renal failure events in patients with lung and spleen qi deficiency syndrome was significantly higher than that in the other three syndrome types,and the chi-square test showed that the difference was statistically significant(P<0.05).(4)Kaplan-Meier survival analysis showed that the cumulative incidence of 2-year and 5-year endpoint events in patients with lung and spleen qi deficiency syndrome was 23.10%and 46.20%,respectively,and the final incidence was 85.00%.The cumulative incidence of 2-year and 5-year endpoint events in patients with other deficiency syndromes was 4.50%and 19.70%,respectively,and the final incidence was 71.60%.The intergroup comparison(tested by Log-rank)showed that the incidence of renal failure events in patients with lung and spleen qi deficiency syndrome was significantly higher than that in patients with other root-deficiency syndromes,and the difference was statistically significant(P<0.05).(5)COX proportional hazard regression analysis showed that lung and spleen qi deficiency syndrome(HR=7.755,95%CI 1.631-36.874,P<0.05)and anemia(HR=8.205,95%CI 1.007-66.857,P<0.05)were the independent risk factors for renal failure events in patients with chronic persistent IgAN.Conclusion Qi and yin deficiency syndrome is the most common syndrome in the patients with chronic persistent IgAN,and lung and spleen qi deficiency syndrome and anemia are the independent risk factors for renal failure events in IgAN.
9.Effects of Huayu Tongluo moxibustion on cognitive function and insulin resistance in patients with type 2 diabetes mellitus and cognitive decline: a randomized controlled trial.
Min YE ; Aihong YUAN ; Lele ZHANG ; Qiqi YANG ; Hongyu XIE ; Xia GE ; Wenjing KAN ; Sheng LI ; Jun YANG
Chinese Acupuncture & Moxibustion 2025;45(11):1541-1548
OBJECTIVE:
To investigate the effects of Huayu Tongluo (transforming stasis and unblocking collaterals) moxibustion on cognitive function and insulin resistance in patients with type 2 diabetes mellitus (T2DM) and cognitive decline.
METHODS:
Ninety patients with T2DM and cognitive decline were randomly divided into a moxibustion group (n=45, 3 cases dropped out, 2 cases were eliminated) and a waiting moxibustion group (n=45, 2 cases dropped out). Both groups received routine hypoglycemic treatment for 12 weeks. The moxibustion group additionally received Huayu Tongluo moxibustion at Baihui (GV20), Shenting (GV24), and Dazhui (GV14). Pressing moxibustion was applied to Baihui (GV20) for 20 min, while suspended moxibustion was applied to Shenting (GV24) and Dazhui (GV14) for 20 min each. Treatments of moxibustion were administered every other day (three times per week) for 12 weeks. All patients were followed up for 12 weeks, during which their original hypoglycemic medication regimen was maintained. Before treatment, after 12 weeks of treatment, and at the 12-week follow-up, the scores of Montreal cognitive assessment (MoCA), mini-mental state examination (MMSE), Addenbrooke's cognitive examination Ⅲ (ACE-Ⅲ), symbol digit modalities test (SDMT), and Athens insomnia scale (AIS) and the insulin resistance index (HOMA-IR) were observed in the two groups.
RESULTS:
Compared with before treatment, the MoCA scores, MMSE scores, ACE-Ⅲ subscale scores (attention, memory, language fluency, language, visuospatial ability) and total scores, and SDMT scores were increased (P<0.01), while the AIS scores were decreased (P<0.05) in the moxibustion group after treatment and at follow-up. Compared with before treatment, the MMSE score, ACE-Ⅲ subscale scores (memory, attention) and total score after treatment, as well as the ACE-Ⅲ subscale scores (language, memory, attention) and total score, and SDMT score at follow-up were increased (P<0.05, P<0.01) in the waiting moxibustion group. Compared with before treatment, HOMA-IR was decreased in both groups after treatment and at follow-up (P<0.01). At follow-up, ACE-Ⅲ subscale scores (attention, memory), and the total score in the moxibustion group were lower than those after treatment (P<0.05, P<0.01), and the ACE-Ⅲ language subscale score, total ACE-Ⅲ score, and SDMT score in the waiting moxibustion group were higher than those after treatment (P<0.01, P<0.05). After treatment and at follow-up, compared with the waiting moxibustion group, the moxibustion group had higher MoCA scores, MMSE scores, SDMT scores, ACE-Ⅲ subscale scores (attention, memory, language fluency) and total scores (P<0.05, P<0.01), and lower HOMA-IR (P<0.05).
CONCLUSION
Huayu Tongluo moxibustion can effectively improve cognitive function in patients with T2DM and cognitive decline. This improvement may be associated with the reduction in insulin resistance.
Humans
;
Insulin Resistance
;
Diabetes Mellitus, Type 2/complications*
;
Male
;
Female
;
Moxibustion
;
Middle Aged
;
Aged
;
Cognition
;
Acupuncture Points
;
Adult
;
Cognitive Dysfunction/therapy*
10.Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review.
Yuhui YOU ; Dongqing HAN ; Wenjing LIU ; Zhaohong YUAN
Chinese Journal of Medical Genetics 2025;42(10):1212-1218
OBJECTIVE:
To explore the clinical features and genetic etiology of a child with Hoyeraal-Hreidarsson syndrome (HHS).
METHODS:
A child with HHS diagnosed at the Affiliated Hospital of Jining Medical University due to "developmental delay and anaemia" on April 27, 2024 was selected as the study subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members. Whole-exome sequencing was carried out, and candidate variant was verified by Sanger sequencing of his family members and bioinformatics analysis using CASAVA v1.8.2. The pathogenicity of the candidate variant was rated according to the Standards and Guidelines for the Interpretation of Sequence Variants released by the American College of Medical Genetics and Genomics (ACMG). Relevant literature on HHS cases reported in China was reviewed to analyze the clinical and genetic characteristics. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-10-C003).
RESULTS:
The child, a 7-month-old boy, had mainly manifested with growth retardation, developmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency and bone marrow failure. Routine blood test indicated pancytopenia. The immunological workup showed reduction of B cells, NK cells and immunoglobulins. Cranial MRI demonstrated the volume of bilateral cerebellar hemispheres and brainstem and corpus callosum was small. Whole-exome sequencing revealed that he has harbored a hemizygous c.103_105del (p.Glu35del) variant of the DKC1 gene. Sanger sequencing showed that his mother and two sisters have carried the same variant. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PM1+PM4+PS4_Supporting+PM2_Supporting). Four relevant literature were retrieved, which has involved 8 HHS cases. Together with the patient from this study, they have consisted of 8 males and 1 females. The most common symptoms of the 9 patients were blood system abnormalities and developmental delay. All patients had shown cerebellar dysplasia and anemia/erythrocytopenia. Among them, 3 cases have harbored TINF2 gene variants, and 6 cases had harbored DKC1 gene variants. The c.103_105del variant has not been reported in China previously.
CONCLUSION
The hemizygous c.103_105del (p.Glu35del) variant of the DKC1 gene probably underlay the disease in this child. Above finding has expanded the mutational and phenotypic spectra of the DKC1 gene, and has facilitated early diagnosis of HHS in this child.
Humans
;
Infant
;
Male
;
Cell Cycle Proteins/genetics*
;
Dyskeratosis Congenita/genetics*
;
Exome Sequencing
;
Fetal Growth Retardation/genetics*
;
Intellectual Disability/genetics*
;
Microcephaly/genetics*
;
Mutation
;
Nuclear Proteins/genetics*
;
X-Linked Intellectual Disability/genetics*


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