Learning Situation Analysis on "Living Will" and "Hospice Care" in Teaching Practice of Geriatrics / 中国医学伦理学

Objective: To investigate the cognitive status of "living will" and "hospice care" among geriatrics students with different identities, and to provide a basis for improving teaching in corresponding sections of geriatric medicine. Methods:An online questionnaire was used to collect data from 426 students participating in specific courses in geriatric medicine and compare their differences in understanding of different issues. Results: There was no statistically significant difference in the understanding of the concept of "living will" among students with different identities (χ2=5.84, P=0.054). In terms of the concept of "hospice care" , geriatricians and general practitioners had a better understanding than that of medical undergraduates (χ2=37.932, P<0.001). Compared to geriatricians and medical undergraduates, general practitioners had a lower level of autonomy in deciding whether to use life support treatment, and the difference was statistically significant (χ2=28.737, P<0.001). There was a statistically significant difference between general practitioners and medical undergraduates in the understanding of "signing living will" (χ2=12.75, P=0.01). Conclusion: The promotion of "living will" and "hospice care" in humanities courses of medical undergraduate and continuing medical education needs to be strengthened, and the popularization and publicity among the general public should be enhanced to lay the groundwork for improving the quality of hospice care.

Traditional Chinese medicine for treatment of echinococcosis: a review / 中国血吸虫病防治杂志

Echinococcosis is a zoonotic parasitic disease caused by infection with Echinococcus species. As the drug of first choice for treatment of echinococcosis, albendazole suffers from problems of large doses and remarkable adverse reactions in clinical therapy. Development of novel drugs against echinococcosis is of urgent need. Recently, great advances have been achieved in the research on traditional Chinese medicine for treatment of echinococcosis. This review summarizes the progress of researches on traditional Chinese medicine for treatment of echinococcosis, aiming to provide insights into development of anti-echinococcosis drugs.

Relationship between intracranial arterial remodeling and imaging markers in patients with cerebral small vessel disease / 中华神经科杂志

Objective:To investigate the relationship between intracranial arterial remodeling and imaging markers in patients with cerebral small vessel disease (CSVD).Methods:One hundred and fifty-six patients with CSVD who were admitted to the Department of Neurology of the Second Affiliated Hospital of Zhengzhou University or the Public People′s Hospital of Xinzheng from January 2020 to May 2022 were selected, and their brain artery remodeling (BAR) score was calculated. The patients with BAR score≤-1 standard deviation (SD) were defined as individuals with constrictive remodeling of intracranial arteries, and the patients with BAR score≥1 SD were defined as individuals with dilated remodeling of intracranial arteries. Imaging markers of CSVD [white matter hyperintensities (WMHs), lacune, cerebral microbleeds, enlarged perivascular spaces, and cerebral atrophy] were quantified, total CSVD load was calculated and patients were divided into low load group (0-2 points, n=91) and high load group (3-4 points, n=65) according to the total CSVD load scores. The correlation between intracranial artery remodeling and various imaging markers of CSVD and total load was analyzed by using univariate analysis and binary Logistic regression analysis. A nomogram prediction model was established and a receiver operating characteristic curve (ROC) was drawn to assess the predictive value of intracranial artery remodeling on high total CSVD load. Results:Dilated intracranial arterial remodeling was an independent influence factor on severe WMHs ( OR=3.66, 95% CI 1.38-9.72, P=0.009), lacune ( OR=3.78, 95% CI 1.17-12.19, P=0.026), cerebral atrophy ( OR=3.11, 95% CI=1.10-8.81, P=0.033), and high total CSVD load ( OR=6.66, 95% CI=2.14-20.77, P=0.001). Age was an independent influencing factor for high total CSVD load ( OR=1.12, 95% CI 1.07-1.16, P<0.01). A nomogram prediction model for high total CSVD load with age and BAR score≥1 SD as dependent variables had a good effect (C-index=0.826) and calibration ( P=0.024). The best cut-off point of ROC curve was 0.50, with an area under the curve of 0.83 (95% CI 0.76-0.89, P<0.01), the sensitivity and specificity of 0.72 and 0.82. Conclusions:Patients with dilated intracranial arterial remodeling may have a heavier CSVD load. Dilated intracranial arterial remodeling may serve as a new biomarker for assessing CSVD, but the mechanism of the association needs further study.

The triggering receptor expressed on myeloid cells 2-apolipoprotein E signaling pathway in diseases / 中华医学杂志(英文版)

Triggering receptor expressed on myeloid cells 2 (TREM2) is a membrane receptor on myeloid cells and plays an important role in the body's immune defense. Recently, TREM2 has received extensive attention from researchers, and its activity has been found in Alzheimer's disease, neuroinflammation, and traumatic brain injury. The appearance of TREM2 is usually accompanied by changes in apolipoprotein E (ApoE), and there has been a lot of research into their structure, as well as the interaction mode and signal pathways involved in them. As two molecules with broad and important roles in the human body, understanding their correlation may provide therapeutic targets for certain diseases. In this article, we reviewed several diseases in which TREM2 and ApoE are synergistically involved in the development. We further discussed the positive or negative effects of the TREM2-ApoE pathway on nervous system immunity and inflammation.

Study on the protective mechanism of Bawei chenxiang powder containing serum on H9c2 cells injured by oxygen-glucose deprivation / 中国药房

OBJECTIVE To study the protective mechanism of Bawei chenxiang powder containing serum on H9c2 cells injured by oxygen-glucose deprivation （OGD）. METHODS H9c2 cells were divided into blank group， model group and Bawei chenxiang powder low-dose， medium-dose and high-dose groups （the dose of drug containing serum 2.5， 8， 12 g/kg）. H9c2 cells were cultured in vitro to establish OGD model. After intervention with drug-containing serum， survival rate of cell was detected. The cell morphology was observed； the levels of lactate dehydrogenase （LDH）， creatine kinase （CK）， superoxide dismutase （SOD）， catalase （CAT）， respiratory chain complexⅠ （ComplexⅠ）， glutathione peroxidase （GSH-Px） and malondialdehyde （MDA） were detected. The contents of reactive oxygen species （ROS）， mitochondrial membrane potential and apoptosis were also detected. The expressions of oxidative stress-related proteins [Kelch ECH association protein 1 （Keap1）， nuclear factor erythroid 2- related factor 2 （Nrf2）， heme oxygenase 1 （HO-1）， NADH oxidoreductase coenzyme 10 （Ndufa10）， thioredoxin （Trx）] and apoptosis-related proteins [B-cell lymphoma 2 （Bcl-2）， Bcl-2 associated X protein （Bax）， Caspase-3 and cytochrome C （Cytc）] were detected. RESULTS Compared with blank group， the cell morphology of model group was damaged； the levels of LDH， CK and MDA were significantly increased （P＜0.01）， while the levels of CAT， ComplexⅠ， SOD and GSH-Px and mitochondrial membrane potential were significantly decreased （P＜0.01）. The content of intracellular ROS and apoptotic rate were significantly increased （P＜0.01）； the expressions of oxidative stress-related proteins （Keap1， Nrf2， HO-1， Ndufa10 and Trx） and pro- apoptosis proteins （Bax， Caspase-3 and Cytc） were significantly increased （P＜0.05）， while the expression of anti-apoptotic protein Bcl-2 was significantly decreased （P＜0.05）. After administration of Bawei chenxiang powder containing serum， the cell morphology improved， and most of the above indexes were significantly reversed （P＜0.05 or P＜0.01）.CONCLUSIONS Bawei chenxiang powder containing serum E-mail：345783110@qq.com has a good protective effect on H9c2 cells damaged by OGD，the mechanism of which is related to the reduction of oxidative damage and inhibition of cell apoptosis.

Research progress of new external preparations of traditional Chinese medicine / 中国药房

The new external preparations of tr aditional Chinese medicine （TCM）mainly include transdermal drug delivery preparation and transmucosal drug delivery system. With the development of modern science and technology ，new external preparations of TCM are widely used in internal medicine ，gynecology，pediatrics and other diseases. In order to provide reference for dosage form development of TCM and safe use of drug in clinic ，this paper reviews the research progress of new external preparation technology for TCM （skin penetration method ，carrier encapsulation technology ，etc.），new external dosage forms of TCM（microneedles，gels，patches，film sprays ，suppositories，film agents ，in situ gels ，etc.）. In the future ，the research of new external preparations of TCM should conduct under the guidance of TCM theory ，and pay attention to the new drug delivery system of previous drugs and the development of TCM components of “drug-adjuvant integration ”，strengthen the research on new external preparations of TCM compounds ，and establish an evaluation system in line with the overall characteristics of TCM so as to promote the sustainable development of new external preparations of TCM.

Analysis of pathogen detection results of neonatal Echovirus 11 infection outbreaks in Guangdong Province in 2019 / 中华微生物学和免疫学杂志

Objective:To analyze the laboratory test results of two outbreaks of neonatal enterovirus infections in Guangdong Province in 2019 and the genetic characteristics of Echo11, aiming to provide reference for the prevention and control of neonatal enterovirus infections.Methods:The pathogenic specimens of neonatal cases suspected of enterovirus infection were collected. Fluorescence quantitative PCR and sequencing were used for enterovirus typing and identification, and virus isolation was carried out for positive specimens.The complete sequences of VP1 of Echo11 were amplified and sequenced and the phylogenetic analysis was performed using the bioinformatics software such as Danstar6, Bioedit7.09 and MEGA6.06.Results:A total of 93 specimens from 36 neonatal cases were collected. After identification, 55 specimens from 24 cases were positive for enterovirus, of which 23 cases were positive for Echo11 and one case was positive for Coxsackievirus B4(CVB4). A total of 29 enterovirus strains were isolated from the specimens of 19 cases, of which 28 were Echo11 from 18 cases, and one was CVB4. Phylogenetic analysis revealed that the nucleotide homology between the 18 strains of Echo11 in this study was 98.2%-100.0%, and the nucleotide homology between the Echo11 strains causing the two neonatal infections was 99.7%-100.0% and 99.8%-100.0%, respectively. Echo11 could be divided into six genotypes as A, B, C, D, E and F, in which genotype A and genotype C were further divided into A1-5 and C1-4, and genotype D could be divided into D1-5. The 18 strains of Echo11 in this study were all subtype D5.Conclusions:In 2019, two outbreaks of neonatal infections in medical institutions in Guangdong Province were caused by Echo11, which belonged to the genotype D5.

Analysis of Three-Dimensional Gait Characteristics before and after FSPR Surgery of Patients with Spastic Cerebral Palsy / 医用生物力学

Objective To analyze gait characteristics of patients with spastic cerebral palsy (CP) before and after functional selective posterior rhizotomy (FSPR) surgery, so as to evaluate curative effects of the surgery objective ly. MethodsFifteen patients with spastic CP to be treated by FSPR were selected. The VICON three-dimensional (3D) motion analysis system and AMTI 3D force plates were used to collect and analyze the spatiotemporal gait parameters, kinematic and dynamic parameters before and after FSPR surgery. Results After the surgery, the left and right support phases were longer,and the left-side step length was significantly larger. The step height, velocity and the max displacement of center of gravity (COG) in coronal plane were smaller than those before surgery.The sagittal plane angle (flexion and extension angle) of the knee during initial landing was significantly increased, while no significant differences were found in that of the hip and ankle.The range of motion (ROM) of the left/right hip, knee and ankle in sagittal plane was increased to some extent during walking, with statistical differences. The ROM of right ankle in coronal plane was also increased obviously. The minimum flexion angle of the right knee and the maximum plantar flexion angle of the left/right ankle were significantly reduced. The maximum vertical forces of left and right support phases were significantly increased, while no significant differences were found in torque of lower limbs. Conclusions The 3D gait analysis can be used to evaluate the effect of FSPR on patients with spastic CP. The spasticity of patients with spastic CP is relieved after FSPR surgery, and the spatiotemporal gait parameters and kinematics parameters are improved significantly. But the improvement of dynamic parameters was not obvious, and further rehabilitation treatment is needed.

Transcranial direct current stimulation for spinal cord injuryassociated neuropathic pain

Several types of pain occur following spinal cord injury (SCI); however, neuropathic pain (NP) is one of the most intractable. Invasive and non-invasive brain stimulation techniques have been studied in clinical trials to treat chronic NP following SCI. The evidence for invasive stimulation including motor cortex and deep brain stimulation via the use of implanted electrodes to reduce SCI-related NP remains limited, due to the small scale of existing studies. The lower risk of complications associated with non-invasive stimulation, including transcranial direct current stimulation (tDCS) and repetitive transcranial magnetic stimulation (rTMS), provide potentially attractive alternative central neuromodulation techniques. Compared to rTMS, tDCS is technically easier to apply, more affordable, available, and potentially feasible for home use. Accordingly, several new studies have investigated the efficacy of tDCS to treat NP after SCI. In this review, articles relating to the mechanisms, clinical efficacy and safety of tDCS on SCI-related NP were searched from inception to December 2019. Six clinical trials, including five randomized placebo-controlled trials and one prospective controlled trial, were included for evidence specific to the efficacy of tDCS for treating SCI-related NP. The mechanisms of action of tDCS are complex and not fully understood. Several factors including stimulation parameters and individual patient characteristics may affect the efficacy of tDCS intervention. Current evidence to support the efficacy of utilizing tDCS for relieving chronic NP after SCI remains limited. Further strong evidence is needed to confirm the efficacy of tDCS intervention for treating SCI-related NP.

Application of WPBL + CBL teaching combined with clinical pathways in dermatological nursing teaching / 中华医学教育探索杂志

Objective:To explore the application of web problem-based learning (WPBL) + case-based learning (CBL) combined with clinical pathways in dermatological nursing teaching.Methods:A total of 120 nurses who practiced in the dermatology department of The First Affiliated Hospital of Air Force Medical University from July 2018 to June 2020 were selected as the research objects. According to the nurse practice period, they were divided into a control group and a study group, with 60 people in each group. The control group used traditional teaching, and the study group used WPBL+CBL combined with clinical pathways for teaching. After the teaching, the two groups of practical nurses were assessed for their theoretical and clinical operational abilities, and the comprehensive abilities of the two groups of practical nurses and their satisfaction with teaching were assessed through questionnaire surveys. SPSS 22.0 was used for t test and χ2 test. Results:The theoretical and clinical performance assessment results of the study group were better than those of the control group, and the difference was statistically significant ( P<0.001). The research group was better than the control group in assessment of improving clinical operation ability, independent problem-solving ability, cultivating teamwork ability, improving self-learning ability, improving ability of presenting and analyzing problems, improving comprehensive analysis ability, cultivating clinical thinking ability and comprehensive ability, with statistical significance ( P<0.001). The satisfaction rate of the trainee nurses in the study group was 93.33%, and the satisfaction rate of the trainee nurses in the control group was 31.67%, with statistically significant differences. Conclusion:WPBL+CBL combined with clinical pathways teaching can significantly improve the theoretical and clinical operation ability of dermatology practice nurses, and improve their comprehensive ability and clinical teaching satisfaction rate, which is worthy of application and promotion in clinical nursing teaching.

Transcranial direct current stimulation for spinal cord injuryassociated neuropathic pain

Several types of pain occur following spinal cord injury (SCI); however, neuropathic pain (NP) is one of the most intractable. Invasive and non-invasive brain stimulation techniques have been studied in clinical trials to treat chronic NP following SCI. The evidence for invasive stimulation including motor cortex and deep brain stimulation via the use of implanted electrodes to reduce SCI-related NP remains limited, due to the small scale of existing studies. The lower risk of complications associated with non-invasive stimulation, including transcranial direct current stimulation (tDCS) and repetitive transcranial magnetic stimulation (rTMS), provide potentially attractive alternative central neuromodulation techniques. Compared to rTMS, tDCS is technically easier to apply, more affordable, available, and potentially feasible for home use. Accordingly, several new studies have investigated the efficacy of tDCS to treat NP after SCI. In this review, articles relating to the mechanisms, clinical efficacy and safety of tDCS on SCI-related NP were searched from inception to December 2019. Six clinical trials, including five randomized placebo-controlled trials and one prospective controlled trial, were included for evidence specific to the efficacy of tDCS for treating SCI-related NP. The mechanisms of action of tDCS are complex and not fully understood. Several factors including stimulation parameters and individual patient characteristics may affect the efficacy of tDCS intervention. Current evidence to support the efficacy of utilizing tDCS for relieving chronic NP after SCI remains limited. Further strong evidence is needed to confirm the efficacy of tDCS intervention for treating SCI-related NP.

Three-dimensional modeling of female urinary system based on MRI and CT data / 南方医科大学学报

OBJECTIVE@#To reconstruct a three-dimensional model of female urinary system based on magnetic resonance imaging (MRI) and tomography angiography (CTA) data.@*METHODS@#MRI and CTA datasets were collected from 20 patients in our department in 2018 for reconstructing 3D models of the bladder urethra in resting state using Mimics19.0 software combined with engineering software. The metric parameters of the bladder urethra were analyzed in the reconstructed 3D model.@*RESULTS@#The bladder and urethra were successfully reconstructed using 10 MRI datasets, and the kidney, ureter and bladder were reconstructed using 10 CTA datasets. Using engineering software, we measured a number of cysto-urethral geometric parameters, including the cysto-urethral posterior angle (151.1±17.9°), beta angle (137.3±14.0°), urethral pubic angle (47.8± 12.1°), urethral tilt angle (21.5±7.3°), alpha angle (83.8±13.8°), the posterior pubic space (15.3±3.0 mm), and the urethral striated muscle thickness (2.6±0.6 mm).@*CONCLUSIONS@#Three-dimensional reconstruction of the anatomical model of the human urinary system provides a platform for studying the fine anatomy of the female urinary system and allows measurement of multiple parameters to better understand the functional differences of the bladder and urethra in different populations.

Three-dimensional modeling of female urinary system based on MRI and CT data / 浙江大学学报·医学版

OBJECTIVE@#To reconstruct a three-dimensional model of female urinary system based on magnetic resonance imaging (MRI) and tomography angiography (CTA) data.@*METHODS@#MRI and CTA datasets were collected from 20 patients in our department in 2018 for reconstructing 3D models of the bladder urethra in resting state using Mimics19.0 software combined with engineering software. The metric parameters of the bladder urethra were analyzed in the reconstructed 3D model.@*RESULTS@#The bladder and urethra were successfully reconstructed using 10 MRI datasets, and the kidney, ureter and bladder were reconstructed using 10 CTA datasets. Using engineering software, we measured a number of cysto-urethral geometric parameters, including the cysto-urethral posterior angle (151.1±17.9°), beta angle (137.3±14.0°), urethral pubic angle (47.8± 12.1°), urethral tilt angle (21.5±7.3°), alpha angle (83.8±13.8°), the posterior pubic space (15.3±3.0 mm), and the urethral striated muscle thickness (2.6±0.6 mm).@*CONCLUSIONS@#Three-dimensional reconstruction of the anatomical model of the human urinary system provides a platform for studying the fine anatomy of the female urinary system and allows measurement of multiple parameters to better understand the functional differences of the bladder and urethra in different populations.

Study on using general practice concept in hospital health center management: practice and exploration / 中华医院管理杂志

Health management is the process of comprehensive management for health risk factors of individuals or groups. The general practice concept when used in health management of the medical examination centers, can optimize the medical examination process and facilitate health guidance. The Health Management Center of the Fourth Affiliated Hospital of Zhejiang University School of Medicine applied such concept in its management, and found increased number of persons taking medical examinations, decreased rate of complaints, and decreases in both waiting days and registration fees by outpatients with positive medical examination outcomes. In addition, general practitioners guided the majority of people undergoing medical examinations with health prescriptions, and improved the quality of health management.

Experience of COVID-19 prevention and control in shelter CT / 中国医学物理学杂志

Since the outbreak of coronavirus disease 2019 (COVID-19), chest computed tomography (CT) has been an important imaging modality in the diagnosis, treatment and follow-up of patients with COVID-19,but meanwhile the risk of cross-infection between the staff and patients in Department of Radiology is increasing. Shelter CT is specifically used for the examination of patients with suspected or confirmed COVID-19 to reduce the infection risk. Based on practical work experience, the management and prevention measures for COVID-19 in shelter CT are discussed from the aspects of the installation, function division and examination procedures of shelter CT, patient examination route, the staff management and infection prevention for radiology technologists, and the disinfection of CT equipments and object surface.

Expression of Tim-3 on natural killer cells in patients with acute myeloid leukemia and its clinical significance / 中华血液学杂志

Objective@#To investigate the expression characteristics of Tim-3 on natural killer (NK) cells of peripheral blood in patients with acute myeloid leukemia (AML) and its clinical significance.@*Methods@#Peripheral blood was obtained from 39 patients with newly diagnosed AML before intervention, with peripheral blood from 28 cases of healthy volunteers collected as normal control. Using CD3, CD56 and Tim-3 as markers, expression levels of Tim-3 on the peripheral blood NK cells were detected by immune fluorescence labeling and flow cytometry.@*Results@#The ratio of the peripheral blood CD3-CD56+ NK cells in newly diagnosed AML patients (5.74±5.31) %decreased significantly, compared with the normal control (12.55±6.33) % (t=4.596, P<0.001) . Tim-3 expression on the peripheral blood NK cells in newly diagnosed AML patients (42.67±19.08) % decreased significantly, compared with the normal control group (60.99±20.69) % (t=3.781, P<0.001) . CD3-CD56+NK cell ratio of peripheral blood in AML patients was significantly correlated with Chromosome karyotype (t=2.915, P<0.005) . Expression level of Tim-3 on NK cells in the peripheral blood of AML patients had significant correlation with ratio of CR and NCCN high risk group (P<0.05) .@*Conclusion@#The rate of NK cells in peripheral blood and the expression level of Tim-3 on NK cells in AML patients decreased significantly.The lower expression level of Tim-3 on NK cells correlate with prognosis of AML.

Evaluation of the training effect of capacity building for general practitioners in Yiwu / 中华医院管理杂志

Objective To evaluate the effect of " elite small class" training mode in capacity building for general practitioners in Yiwu city. Methods The Fourth Affiliated Hospital of Zhejiang University School of Medicine worked with Yiwu Health Bureau, and held the first training class for general practitioners from December 6th in 2018 to April 5th in 2019.The mode of " elite small-class" was adopted. Theoretical assessment was carried out for trainees before and after the training and discussion was conducted after the training. Descriptive analysis of quantitative data and thematic analysis of qualitative data were carried out. Results The trainees′theoretical performance had been significantly improved after 4 months of theoretical learning and clinical rotation.The average score of the theoretical performance was increased from 66.94 to 72.59. Conclusions It was preliminarily found that the " elite small-class" training mode was suitable for the training of general practitioners in rural areas.Government support and trainee selection are key to training outcomes.

Discussion on the training program for general practitioners as led by medical alliances / 中华医院管理杂志

The fourth affiliated hospital of Zhejiang university is responsible for training general practitioners in view of the basics of local general practitioners and the characteristics of chronic and frequently-occurring diseases in Yiwu city. This program is carried out relying on the high-quality faculty of medical alliances within Zhejiang university, and funded by the municipal government of Yiwu. The "4+6"training program is designed to elevate the competence of primary general practitioners. Such training fit the overall medical level of general practitioners, enhances people′s trust of general practitioners and the rate of diagnosis at primary level.

Application of tandem mass spectrometry in newborn genetic metabolic disease screening / 中华检验医学杂志

Inherited metabolic disorders, also known as congenital metabolic diseases, refer to a group of diseases that cause a series of clinical symptoms due to gene mutations, such as enzyme deficiency, dysfunction of cell membrane or receptor deficiency, resulting in biochemical metabolic disorders, accumulation of intermediate or bypass metabolites, or lack of final metabolites. Inherited metabolic disordersoften occur in childhood, progressively aggravating, irreversible nervous system damage, and even death. Tandem mass spectrometry (MS/MS) has been widely used in newborn screening abroad and in China. This technology not only expands the screening spectrum of newborn screening, but also improves the screening efficiency, specificity and sensitivity, which opens up a new field for disease screening. With deepening the understanding of the mechanism of inherited metabolic disorders and mass spectrometry technology, its clinical application becomes more significant in diseases screening and diagnosing.

Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.@*METHODS@#Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing.@*RESULTS@#The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic.@*CONCLUSION@#PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.