1.Mechanisms of Bushen Tongluo Jiangzhuo Prescription in Improving Renal Fibrosis in Rats with Chronic Kidney Disease Based on PI3K/Akt/mTOR Signaling Pathway
Xincui BAO ; Baosheng ZHAO ; Lingling QIN ; Haiyan WANG ; Jing YANG ; You WANG ; Lijia WU ; Yujin LI ; Ming GAO ; Cuiyan LYU ; Tonghua LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(6):100-108
ObjectiveTo investigate the mechanisms by which Bushen Tongluo Jiangzhuo prescription improves renal fibrosis in rats with chronic kidney disease (CKD) through the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt)/mammalian target of rapamycin (mTOR) signaling pathway. MethodsSeventy specific pathogen-free (SPF) Sprague-Dawley (SD) rats were randomly divided into a control group (n=15) and a modeling group (n=55). Rats in the modeling group were administered a 2.5% adenine suspension at a dose of 200 mg·kg-1·d-1 by gavage for 4 weeks to establish a CKD model. Successfully modeled rats were randomly divided into a model group, an irbesartan group (20.25 mg·kg-1·d-1), and Bushen Tongluo Jiangzhuo prescription low-, medium-, and high-dose groups (5.82, 11.64, and 23.28 g·kg-1·d-1, respectively), with 10 rats in each group. Each group was administered an equal volume of physiological saline, the corresponding concentration of irbesartan, or Bushen Tongluo Jiangzhuo prescription by gavage for 12 weeks. Body weight and renal function indices were dynamically monitored. Serum creatinine (SCr), blood urea nitrogen (BUN), urine albumin-to-creatinine ratio (ACR), 24-hour urinary total protein (24 hUTP), aspartate aminotransferase (AST), alanine aminotransferase (ALT), interleukin-1β (IL-1β), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) levels were measured using an automatic biochemical analyzer. Renal histopathological changes were observed by hematoxylin-eosin (HE) and Masson staining. Immunohistochemistry (IHC) was used to detect the expression of PI3K, Akt, phosphorylated Akt (p-Akt), and mTOR in renal tissues. Western blot was performed to assess the protein expression of PI3K, p-Akt, Akt, phosphorylated mTOR (p-mTOR), and mTOR in renal tissues. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to determine the mRNA expression levels of PI3K, Akt, and mTOR in renal tissues. ResultsCompared with the model group, rats in the irbesartan group and the low-, medium-, and high-dose Bushen Tongluo Jiangzhuo prescription groups showed significantly decreased levels of SCr, BUN, ACR, 24 hUTP, IL-1β, IL-6, and TNF-α (P<0.01). AST levels were significantly increased (P<0.01), while no significant difference was observed in ALT levels. Histopathological examination revealed that, compared with the model group, renal tubular epithelial cell edema and necrosis and Bowman's capsule dilation were alleviated, inflammatory cell infiltration was reduced, and interstitial and glomerular fibrosis was markedly improved in all treatment groups, with the most pronounced effect observed in the high-dose Bushen Tongluo Jiangzhuo prescription group. Real-time PCR results showed that mRNA expression levels of PI3K, Akt, and mTOR were significantly downregulated in the high-dose group (P<0.01). IHC results demonstrated that PI3K and p-Akt expression levels in renal tissues were significantly decreased in the high-dose group (P<0.01). Western blot analysis further confirmed that the expression levels of PI3K, p-Akt/Akt, and p-mTOR/mTOR were significantly reduced in the high-dose group (P<0.01). ConclusionBushen Tongluo Jiangzhuo prescription improves renal function indices in CKD rats, reduces collagen deposition in renal tissues, and decreases serum inflammatory factor levels. Its protective effect on renal function may be achieved by activating autophagy through downregulation of the PI3K/Akt/mTOR signaling pathway, thereby alleviating renal fibrosis.
2.From tradition to modernity: the integrated development of medical humanities and narrative medicine
Xiaoxiong ZHU ; Lijia DU ; Yingru LIU ; Xiaoying ZHANG ; Jia NA ; Zhifen YANG
Chinese Medical Ethics 2026;39(2):201-206
Medical humanities consistently run through the entire process of medical development and educational reform. However, with the increasingly prominent dominance of evidence-based medicine in clinical practice, the medical humanities have gradually been weakened in both medical education and clinical practice. Narrative medicine, through telling and listening to patients’ stories, enhances healthcare professionals’ empathy, fosters doctor–patient communication, and facilitates a return to the humanistic essence of medical education and clinical practice. By sorting out and reviewing related literature and developmental trends both at home and abroad, this paper pointed out the existing structural problem of an imbalance between technological priority and humanistic care in medical education, focusing on how to achieve an effective integration of medical humanities and narrative medicine in medical education. This paper also systematically analyzed the significance of both medical humanities and narrative medicine in the medical education system and proposed promoting the deep embedding of narrative medicine in medical education from three entry points, namely, curriculum integration, interdisciplinary collaboration, and the construction of teaching evaluation systems. The aim was to provide theoretical support and practical experience for medical education reform, foster the coordinated development of professional competence and humanistic spirit among medical talents, and truly achieve the goal of cultivating well-rounded medical talents.
3.Influencing factors for delay in healthcare-seeking, definitive diagnosis, identification in patients with pulmonary tuberculosis in Minhang District
MA Qiongjin ; YAN Huiqin ; WU Yunhua ; GUO Xu ; YANG Lijia ; TANG Lihong ; YANG Shengyuan
Journal of Preventive Medicine 2025;37(1):59-64
Objective:
To investigate the influencing factors for delay in healthcare-seeking, definitive diagnosis and identification in patients with pulmonary tuberculosis (PTB) in Minhang District, Shanghai Municipality, so as to provide the basis for effectively reducing delay in PTB patients.
Methods:
Data of PTB patients in Minhang District from 2017 to 2022 were collected from the Infectious Disease Reporting Information System of Chinese Disease Prevention and Control Information System. The prevalence rates of delay in healthcare-seeking, definitive diagnosis and identification were analyzed, and factors affecting delay in healthcare-seeking, definitive diagnosis and identification were identified using multivariable logistic regression models.
Results:
A total of 4 214 PTB patients were reported in Minhang District from 2017 to 2022, including 2 802 males and 1 412 females, with a male-to-female ratio of 1.98∶1. The majority of patients were aged 25 to <45 years (1 664 cases, 39.49%). The prevalence rates of delay in healthcare-seeking, definitive diagnosis and identification were 36.81%, 30.21% and 38.09%, respectively. Delay in healthcare-seeking was associated with the year (2018, OR=0.708; 2019, OR=0.549; 2020, OR=0.670; 2021, OR=0.682), gender (female, OR=1.199), occupation (worker, OR=1.379; housekeeping service/housework/unemployed, OR=1.481), case identification route (symptom-based consultation, OR=11.159), and level of the first-diagnosed hospital (city-level, OR=1.528). Delay in definitive diagnosis was associated with age (45 to <65 years, OR=1.476), occupation (commercial service, OR=0.687; housekeeping service/housework/unemployed, OR=0.672), household registration (non-local, OR=0.820), case identification route (symptom-based consultation, OR=0.616), pathogen test result (negative/not tested, OR=1.903), and the level of the first-diagnosed hospital (city-level, OR=0.311). Delay in identification was associated with the year (2018, OR=0.785; 2019, OR=0.647; 2020, OR=0.790; 2021, OR=0.710), occupation (commercial service, OR=0.687), household registration (non-local, OR=0.848) and level of the first-diagnosed hospital (city-level, OR=0.560)
Conclusions
Year, gender, occupation, case identification route and level of the first-diagnosed hospital are influencing factors for delay in healthcare-seeking in PTB patients. Age, occupation, household registration, case identification route, pathogen test result and level of the first-diagnosed hospital are influencing factors for delay in definitive diagnosis. Year, occupation, household registration and level of the first-diagnosed hospital are influencing factors for delay in identification.
4.Mechanism of Tangbikang Dry Paste in Prevention and Treatment of Type 2 Diabetic Peripheral Neuropathy Based on GLO-1/AGE/RAGE Pathway
Lijia WU ; Chengfei ZHANG ; Xiaolei JIA ; Lingling QIN ; Haiyan WANG ; Yukun HUANG ; You WANG ; Xincui BAO ; Jing YANG ; Cuiyan LYU ; Tonghua LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):60-69
ObjectiveTo investigate the mechanism of Tangbikang dry paste in the prevention and treatment of type 2 diabetic peripheral neuropathy (DPN) based on the glyoxalase-1 (GLO-1)/advanced glycation end products (AGE)/receptor for advanced glycation end products (RAGE) pathway. MethodsA total of 56 Sprague-Dawley rats were randomly divided, with eight assigned to the normal group. The remaining 48 rats were fed a high-fat diet combined with intraperitoneal injection of streptozotocin (STZ) to induce a type 2 diabetes mellitus (T2DM) model. Based on blood glucose levels, the rats were randomly assigned to the model group, Tanglin group (13.5 mg·kg-1), metformin group (135 mg·kg-1), and Tangbikang dry paste low-, medium-, and high-dose groups (3, 6, 12 g·kg-1). Successful modeling of DPN was confirmed by a decrease in mechanical pain threshold in the model group at week 4. Fasting blood glucose, body weight, and mechanical pain threshold were measured every 4 weeks. After 16 weeks of intervention, the pathological morphology of the sciatic nerve was observed using hematoxylin-eosin (HE) staining. The expression of RAGE, AGE, protein kinase C (PKC), and collagen (COL) in the sciatic nerve was assessed by immunohistochemistry. The mRNA expression of RAGE, PKC, Toll-like receptor (TLR), COL, and GLO-1 was detected using real-time quantitative PCR (Real-time PCR). Serum levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), creatinine (CREA), urea (UREA), interleukin-6 (IL-6), and tumor necrosis factor (TNF)-α were measured by enzyme-linked immunosorbent assay (ELISA). ResultsCompared with the normal group, the model group showed significantly increased fasting blood glucose (P<0.01), decreased body weight and mechanical pain threshold (P<0.01), and elevated serum AST, ALT, CREA, UREA, IL-6, and TNF-α levels (P<0.01). The expression of RAGE, AGE, and PKC in the sciatic nerve was significantly increased (P<0.01), while COL expression was decreased (P<0.01). The mRNA expression of TLR, RAGE, and PKC was upregulated (P<0.01), whereas COL and GLO-1 mRNA levels were downregulated (P<0.01). Histological examination showed irregular nerve morphology, axonal alterations, and myelin degeneration. Compared with the model group, fasting blood glucose levels in the Tangbikang dry paste high-dose group at all time points and in the medium-dose group at weeks 4 and 16 were significantly reduced (P<0.05, P<0.01). No significant changes in body weight were observed across all Tangbikang dose groups. The mechanical pain threshold was elevated at different time points after administration in all Tangbikang groups (P<0.05, P<0.01). Serum IL-6 and TNF-α levels were decreased in all dose groups (P<0.05, P<0.01). The expression of RAGE, AGE, and PKC in the sciatic nerve was reduced (P<0.01), while COL expression was increased (P<0.01). The mRNA expression of TLR, RAGE, and PKC was downregulated (P<0.01), whereas GLO-1 mRNA expression was upregulated (P<0.05, P<0.01). Additionally, COL mRNA expression was significantly increased in the low- and high-dose groups (P<0.01). Pathological changes in the sciatic nerve were milder in all Tangbikang groups compared to the model group. ConclusionTangbikang dry paste significantly improves DPN, and its mechanism may be associated with the regulation of the GLO-1/AGE/RAGE signaling pathway.
5.Mechanism of Tangbikang Dry Paste in Prevention and Treatment of Type 2 Diabetic Peripheral Neuropathy Based on GLO-1/AGE/RAGE Pathway
Lijia WU ; Chengfei ZHANG ; Xiaolei JIA ; Lingling QIN ; Haiyan WANG ; Yukun HUANG ; You WANG ; Xincui BAO ; Jing YANG ; Cuiyan LYU ; Tonghua LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):60-69
ObjectiveTo investigate the mechanism of Tangbikang dry paste in the prevention and treatment of type 2 diabetic peripheral neuropathy (DPN) based on the glyoxalase-1 (GLO-1)/advanced glycation end products (AGE)/receptor for advanced glycation end products (RAGE) pathway. MethodsA total of 56 Sprague-Dawley rats were randomly divided, with eight assigned to the normal group. The remaining 48 rats were fed a high-fat diet combined with intraperitoneal injection of streptozotocin (STZ) to induce a type 2 diabetes mellitus (T2DM) model. Based on blood glucose levels, the rats were randomly assigned to the model group, Tanglin group (13.5 mg·kg-1), metformin group (135 mg·kg-1), and Tangbikang dry paste low-, medium-, and high-dose groups (3, 6, 12 g·kg-1). Successful modeling of DPN was confirmed by a decrease in mechanical pain threshold in the model group at week 4. Fasting blood glucose, body weight, and mechanical pain threshold were measured every 4 weeks. After 16 weeks of intervention, the pathological morphology of the sciatic nerve was observed using hematoxylin-eosin (HE) staining. The expression of RAGE, AGE, protein kinase C (PKC), and collagen (COL) in the sciatic nerve was assessed by immunohistochemistry. The mRNA expression of RAGE, PKC, Toll-like receptor (TLR), COL, and GLO-1 was detected using real-time quantitative PCR (Real-time PCR). Serum levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), creatinine (CREA), urea (UREA), interleukin-6 (IL-6), and tumor necrosis factor (TNF)-α were measured by enzyme-linked immunosorbent assay (ELISA). ResultsCompared with the normal group, the model group showed significantly increased fasting blood glucose (P<0.01), decreased body weight and mechanical pain threshold (P<0.01), and elevated serum AST, ALT, CREA, UREA, IL-6, and TNF-α levels (P<0.01). The expression of RAGE, AGE, and PKC in the sciatic nerve was significantly increased (P<0.01), while COL expression was decreased (P<0.01). The mRNA expression of TLR, RAGE, and PKC was upregulated (P<0.01), whereas COL and GLO-1 mRNA levels were downregulated (P<0.01). Histological examination showed irregular nerve morphology, axonal alterations, and myelin degeneration. Compared with the model group, fasting blood glucose levels in the Tangbikang dry paste high-dose group at all time points and in the medium-dose group at weeks 4 and 16 were significantly reduced (P<0.05, P<0.01). No significant changes in body weight were observed across all Tangbikang dose groups. The mechanical pain threshold was elevated at different time points after administration in all Tangbikang groups (P<0.05, P<0.01). Serum IL-6 and TNF-α levels were decreased in all dose groups (P<0.05, P<0.01). The expression of RAGE, AGE, and PKC in the sciatic nerve was reduced (P<0.01), while COL expression was increased (P<0.01). The mRNA expression of TLR, RAGE, and PKC was downregulated (P<0.01), whereas GLO-1 mRNA expression was upregulated (P<0.05, P<0.01). Additionally, COL mRNA expression was significantly increased in the low- and high-dose groups (P<0.01). Pathological changes in the sciatic nerve were milder in all Tangbikang groups compared to the model group. ConclusionTangbikang dry paste significantly improves DPN, and its mechanism may be associated with the regulation of the GLO-1/AGE/RAGE signaling pathway.
6.Exploring the practical ways and significance of narrative ability training for resident physicians
Lijia DU ; Rui ZHENG ; Jia NA ; Xiaoxiong ZHU ; Zhifen YANG
Chinese Medical Ethics 2025;38(6):695-703
ObjectiveTo evaluate the impact of narrative medicine education on the narrative ability of resident physicians undergoing standardized residency training, and to explore its application value in clinical practice. MethodsA total of 23 obstetricians and gynecologists who participated in residency training at the Fourth Hospital of Hebei Medical University from October 2021 to June 2024 were randomly selected to receive a 3-month residency training program integrated with narrative medicine education, including narrative theory learning, text reading, reflective writing, and scenario-based case analysis. A questionnaire survey was conducted to analyze the personal situation of resident physicians, their narrative ability before and after receiving narrative medicine education, and their satisfaction with teaching. ResultsThe results of the questionnaire survey showed that resident physicians who had received narrative medicine education scored higher on the narrative ability assessment scale than before training, including improved narrative abilities in the dimensions of life and health narrative awareness, professional narrative thinking, professional development narrative behavior, peer communication narrative behavior, and doctor-patient interaction narrative behavior (P<0.05). However, there were no statistically significant differences in the dimensions of life and health narrative behavior and family connection narrative behavior (P>0.05). Meanwhile, resident physicians’ interest in active learning, clinical thinking ability, doctor-patient communication ability, and satisfaction with teaching methods have also been improved (P<0.05). ConclusionNarrative medicine education can effectively enhance the narrative ability of resident physicians and make up for the current deficiencies in humanistic literacy and ethical education in current medical education. It is of great significance for improving doctor-patient relationships and the quality of medical services. Therefore, it is recommended to integrate narrative medicine education into the regular training curriculum for resident physicians.
7.Value of the first platelet count to respiratory rate ratio in the diagnosis and prognosis of secondary sepsis in pneumonia patients
Lijia YUAN ; Sha YANG ; Ting XIAO ; Linghu CAI ; Yan ZHOU ; Ming CHEN ; Minghua LIU
International Journal of Laboratory Medicine 2025;46(6):641-645
Objective To investigate the value of first platelet count(PLT)to respiratory rate(RR)ratio(PLT/RR)on admission in the diagnosis and prognosis of secondary sepsis in pneumonia patients.Methods A total of 100 patients with pneumonia admitted to the First Affiliated Hospital of Army Medical University from May 2023 to August 2024 were selected as subjects.According to the presence or absence of pneumonia sepsis,they were divided into sepsis group(63 cases)and non-sepsis group(37 cases).The secondary sepsis in pneumonia pa-tients were followed up continuously for 30 d.According to the survival situation,they were divided into sur-vival group(54 cases)and death group(9 cases).PLT in peripheral blood was measured,vital signs were col-lected on the first day of admission,and PLT/RR was calculated.The receiver operating characteristic curve was used to evaluate the predictive value of PLT,RR and PLT/RR for secondary sepsis in pneumonia pa-tients.The systemic inflammatory response syndrome(SIRS)score,modified early warning score(MEWS)and quick sequential organ failure assessment(qSOFA)score on admission were calculated,and the clinical predictive value of SIRS score,MEWS and qSOFA score was compared.Results PLT and PLT/RR in sepsis group were lower than those in non-sepsis group(P<0.000 1),RR was higher than that in non-sepsis group(P<0.01).The area under the curve(AUC,95%CI)of PLT,RR and PLT/RR were 0.858(0.785-0.931),0.693(0.589-0.796)and 0.902(0.843-0.962),respectively.The optimal cut-off values were 146.5×109/L,20.5 per minute and 8.075,respectively.The specificity were 8.1%,83.8%and 2.7%,respec-tively.The sensitivity was 33.3%,50.8%and 30.2%,respectively.Compared with the non-sepsis group,the sepsis group had a significantly higher SIRS score(P<0.001),a significantly lower MEWS(P<0.000 1),and no significant difference in qSOFA score between the two groups(P>0.05).The AUC(95%CI)of SIRS score,MEWS and qSOFA score in predicting secondary sepsis in pneumonia patients were 0.717(0.616-0.818),0.748(0.650-0.846)and 0.505(0.389-0.622),respectively.The optimal cut-off values were 4.5,2.5 and 1.5 points,respectively.The specificity were 91.9%,2.7%and 100.0%,respectively.The sensitivity was 42.9%,33.3%and 6.3%,respectively.PLT and PLT/RR in death group were lower than those in sur-vival group(P<0.05),RR was higher than that in survival group(P<0.05).Secondary sepsis in pneumonia patients were followed up for 30 d,Kaplan-Meier survival curve showed that patients with PLT≤138.5×109/L had a lower 30 d survival rate(P=0.007 8).Patients with RR>24.5 per minute had a lower 30 d sur-vival rate(P=0.016 1).Patients with PLT/RR≤6.375 had a lower 30 d survival rate(P=0.002 3).Conclu-sion PLT/RR can be used as a biological index to predict secondary sepsis in pneumonia patients,which is better than SIRS score,MEWS and qSOFA score,and the prognosis of secondary sepsis in pneumonia patients with low PLT/RR is worse.
8.Value of CT features in differentiating gastric leiomyomas and gastric stromal tumors based on propensity score matching
Lijia WANG ; Xiaohui QI ; Jiangyang PAN ; Qiao XIE ; Li YANG ; Qi WANG
Journal of Practical Radiology 2024;40(5):741-745
Objective To evaluate the CT features and differential value of gastric leiomyomas(GLs)and gastric stromal tumors(GSTs)after propensity score matching.Methods Twenty-six GLs were 1∶1 propensity score matched to GSTs based on sex,age,tumor site and size.Tumor shape and contour,mucosal ulcer,tumor growth patterns,enhancement pattern and degree,the lon-gest diameter(LD)of the tumor,and the ratio of the LD to the vertical diameter(VD)were analyzed.CT signs included hemor-rhage,calcification,peripheral invasion,and distant metastasis,etc.Regression analysis was used to determine the best quantitative evaluation for differentiation of them.Results The presence of mucosal ulcer was significantly more frequent in GSTs than in GLs(P=0.032).Both tumors showed progressive enhancement;however,the enhancement degree of GSTs was significantly higher than GLs in the arterial and portal venous phases(P=0.004,P=0.002,respectively).The above influential factors were included in a regression analysis using enhancement degree of 18 HU and 23 HU in the arterial and portal venous phases as cutoff values respectively.An enhancement degree≤18 HU in the arterial phase was identified as an independent influential factor in the diagnosis of GLs[odds ratio(OR)=12.776,95%confidence interval(CI)1.270-128.535].No significant difference was found in other morphological characteristics(P>0.05).Conclusion Less ulceration on the tumor surface and mild enhancement in arterial phase are characteristic features of GLs compared with GSTs.
9.Research progress of macrophage based nanoimaging and nanobiomimetic technology in the diagnosis and treatment of atherosclerotic plaque
Yaling WU ; Yuanhui DUAN ; Rong SUN ; Zhizhen SHI ; Lijia YANG ; Sen QUN
Chinese Journal of Arteriosclerosis 2024;32(10):899-906
Macrophages play an important role in the development of inflammation,the core mechanism of athero-sclerosis.In recent years,nanotechnology has provided a new perspective for the diagnosis and treatment of atherosclerosis with its unique characteristics of biological compatibility and precise targeting.In this paper,the patholog-ical mechanism of atherosclerosis,the realization of atherosclerosis imaging by targeting macrophages with nanomaterials and the application of macrophage cell membrane biomimetic nanoparticles in anti-atherosclerosis were reviewed.
10.Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree.
Lijia LI ; Qingyi LONG ; Xiaomei WEN ; Xue LI ; Yang TIAN ; Yecheng FENG ; Qiuyue ZHANG
Chinese Journal of Medical Genetics 2023;40(7):871-875
OBJECTIVE:
To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree.
METHODS:
A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.
RESULTS:
The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4).
CONCLUSION
The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.
Female
;
Humans
;
Pedigree
;
Muscle Hypotonia
;
Hearing Loss, Sensorineural
;
Protein Deficiency
;
Mutation


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