1.Characteristics of hospitalized injury cases in Huangpu District
MA Shuli ; DAI Ran ; YANG Chun ; HAO Xiaomeng ; LIU Jiacong ; WU Huaguo ; WU Mengqi
Journal of Preventive Medicine 2025;37(5):494-498,502
Objective:
To investigate the characteristics of hospitalized injury cases in Huangpu District, Guangzhou City in 2022, so as to provide evidence for optimizing injury prevention interventions.
Methods:
Data on hospitalized injury cases admitted between January to December 2022 were collected through the hospitalization registry system from 17 healthcare institutions in Huangpu District. The population distribution characteristics, causes of injury, injury sites, duration of hospital stay, and hospitalization costs were descriptively analyzed.
Results:
A total of 6 729 hospitalized injury cases were reported in Huangpu District in 2022, including 4 277 males and 2 452 females, with a male-to-female ratio of 1.74∶1. The average age was (49.57±19.82) years, with 2 064 cases (30.67%) aged 45 to <60 years and 1 921 cases (28.55%) aged ≥60 years. The median length of hospitalization was 9.00 (interquartile range, 11.00) days, with median hospitalization costs of 15 968.93 (interquartile range, 25 786.69) yuan. In the months of June to August, there were more cases of injury hospitalization,with 1 904 cases accounting for 28.30%. The top three causes of injury were falls (2 895 cases, 43.02%), transportation accidents (1 247 cases, 18.53%) and exposure to inanimate mechanical forces (1 104 cases, 16.41%). The top three injured sites were lower limb injuries (1 850 cases, 27.49%), upper limb injuries (1 596 cases, 23.72%) and other sites (1 178 cases, 17.51%). The three leading causes of injury with longest hospitalization duration were burns and scalds, transport accidents and falls, with the median duration being 12.00 (interquartile range, 8.00) days, 10.00 (interquartile range, 13.00) days and 10.00 (interquartile range, 11.00) days, respectively. The top three injury sites associated with the longest hospitalization duration were others, lower limb injuries, and head and neck injuries, with the median duration being 11.00 (interquartile range, 13.00) days, 11.00 (interquartile range, 11.00) days, and 10.00 (interquartile range, 12.00) days, respectively. The causes of injury associated with higher hospitalization costs were falls and transportation accidents, with the median hospitalization cost being 23 550.13 (interquartile range, 30 087.76) yuan for falls and 20 301.94 (interquartile range, 30 589.86) yuan for transportation accidents. The injury sites associated with higher hospitalization costs were lower limb injuries and upper limb injuries, with the median hospitalization cost being 24 257.32 (interquartile range, 34 145.54) yuan for lower limb injuries and 16 506.33 (interquartile range, 20 052.27) yuan for upper limb injuries.
Conclusions
In Huangpu District, hospitalized injury mainly occurred among males and individuals aged ≥45 years, with the higher incidence observed between June and August. Fall was the primary cause of injury, while lower limb injuries was the main injury sites. The injury resulted in substantially higher hospitalization costs.
2.Pharmacokinetics of 7 characteristic components from active fraction of Alpiniae Officinarum Rhizoma in rats with Helicobacter pylori gastritis based on HPLC-MS/MS.
Hao-Ran MA ; Jian-Ting ZHAN ; Xin LUO ; Wu-Yin-Xiao ZHENG ; Xiao-Chuan YE ; Dan LIU
China Journal of Chinese Materia Medica 2025;50(7):1949-1958
A high performance liquid chromatography-tandem mass spectrometry(HPLC-MS/MS) method was established for simultaneous determination of seven characteristic components from the active fraction of Alpiniae Officinarum Rhizoma in rat plasma, including galangin, kaempferol, kaempferide, pinocembrin, 1,7-diphenyl-4-en-3-heptanone, 5-hydroxy-7-(4-hydroxy-3-methoxyphenyl)-1-phenyl-3-heptanone(DHPA), and 7-(4-hydroxy-3-methoxyphenyl)-1-phenyl-4-en-3-heptanone(DPHB). The new developed HPLC-MS/MS method was applied to study the pharmacokinetics of the 7 characteristic components in rats with Helicobacter pylori gastritis. A Waters Sunfire C_(18) column(2.1 mm×150 mm, 3.5 μm) was used. The acetonitrile-aqueous solution(containing 0.1% formic acid) was adopted as the mobile phase for gradient elution. Seven components and internal standard(chlorogenic acid) were separated within 12 min. Mass spectrometric detection was performed in multiple reaction monitoring(MRM) mode using electrospray ionization(ESI) source with fast switching between positive and negative ions. The method was verified by specificity, linearity, precision, accuracy, recovery, matrix effect, and stability and met the requirements of pharmacokinetic study on the 7 components in rat plasma. Pharmacokinetic results showed that the average peak time(T_(max)) of the 7 components was 0.31-2.19 h, their elimination half-life(t_(1/2)) was 5.26-16.65 h, and the average residence time(MRT) was 6.29-31.03 h after the oral administration of the active fraction of Alpiniae Officinarum Rhizoma to rats with H. pylori gastritis. The plasma exposure levels of galangin and DHPA were higher than those of the other components. The concentration-time curves of four detected flavonoids showed obvious double peaks. This study elucidated the pharmacokinetic characteristics of 7 characteristic components from the active fraction of Alpiniae Officinarum Rhizoma in rats with H. pylori gastritis, providing a scientific basis for the identification of the pharmacodynamic substances of Alpiniae Officinarum Rhizoma for treatment of H. pylori gastritis and the clinical application of Alpiniae Officinarum Rhizoma in the prevention and treatment of H. pylori gastritis.
Animals
;
Rats
;
Chromatography, High Pressure Liquid/methods*
;
Tandem Mass Spectrometry/methods*
;
Drugs, Chinese Herbal/administration & dosage*
;
Male
;
Helicobacter pylori/drug effects*
;
Alpinia/chemistry*
;
Rats, Sprague-Dawley
;
Gastritis/metabolism*
;
Helicobacter Infections/metabolism*
;
Flavonoids/blood*
;
Rhizome/chemistry*
;
Liquid Chromatography-Mass Spectrometry
3.Mechanism of vanillic acid against cardiac fibrosis induced by isoproterenol in mice based on Drp1/HK1/NLRP3 and mitochondrial apoptosis signaling pathways.
Hai-Bo HE ; Mian WU ; Jie XU ; Qian-Qian XU ; Fang-Zhu WAN ; Hua-Qiao ZHONG ; Ji-Hong ZHANG ; Gang ZHOU ; Hui-Lin QIN ; Hao-Ran LI ; Hai-Ming TANG
China Journal of Chinese Materia Medica 2025;50(8):2193-2208
This study investigated the effects and underlying mechanisms of vanillic acid(VA) against cardiac fibrosis(CF) induced by isoproterenol(ISO) in mice. Male C57BL/6J mice were randomly divided into control group, VA group(100 mg·kg~(-1), ig), ISO group(10 mg·kg~(-1), sc), ISO + VA group(10 mg·kg~(-1), sc + 100 mg·kg~(-1), ig), ISO + dynamin-related protein 1(Drp1) inhibitor(Mdivi-1) group(10 mg·kg~(-1), sc + 50 mg·kg~(-1), ip), and ISO + VA + Mdivi-1 group(10 mg·kg~(-1), sc + 100 mg·kg~(-1), ig + 50 mg·kg~(-1), ip). The treatment groups received the corresponding medications once daily for 14 consecutive days. On the day after the last administration, cardiac functions were evaluated, and serum and cardiac tissue samples were collected. These samples were analyzed for serum aspartate aminotransferase(AST), lactate dehydrogenase(LDH), creatine kinase-MB(CK-MB), cardiac troponin I(cTnI), reactive oxygen species(ROS), interleukin(IL)-1β, IL-4, IL-6, IL-10, IL-18, and tumor necrosis factor-α(TNF-α) levels, as well as cardiac tissue catalase(CAT), glutathione(GSH), malondialdehyde(MDA), myeloperoxidase(MPO), superoxide dismutase(SOD), total antioxidant capacity(T-AOC) activities, and cytochrome C levels in mitochondria and cytoplasm. Hematoxylin-eosin, Masson, uranium acetate and lead citrate staining were used to observe morphological and mitochondrial ultrastructural changes in the cardiac tissues, and myocardial injury area and collagen volume fraction were calculated. Flow cytometry was applied to detect the relative content and M1/M2 polarization of cardiac macrophages. The mRNA expression levels of macrophage polarization markers [CD86, CD206, arginase 1(Arg-1), inducible nitric oxide synthase(iNOS)], CF markers [type Ⅰ collagen(Coll Ⅰ), Coll Ⅲ, α-smooth muscle actin(α-SMA)], and cytokines(IL-1β, IL-4, IL-6, IL-10, IL-18, TNF-α) in cardiac tissues were determined by quantitative real-time PCR. Western blot was used to detect the protein expression levels of Coll Ⅰ, Coll Ⅲ, α-SMA, Drp1, p-Drp1, voltage-dependent anion channel(VDAC), hexokinase 1(HK1), NOD-like receptor protein 3(NLRP3), apoptosis-associated speck-like protein(ASC), caspase-1, cleaved-caspase-1, gasdermin D(GSDMD), cleaved N-terminal gasdermin D(GSDMD-N), IL-1β, IL-18, B-cell lymphoma-2(Bcl-2), B-cell lymphoma-xl(Bcl-xl), Bcl-2-associated death promoter(Bad), Bcl-2-associated X protein(Bax), apoptotic protease activating factor-1(Apaf-1), pro-caspase-3, cleaved-caspase-3, pro-caspase-9, cleaved-caspase-9, poly(ADP-ribose) polymerase-1(PARP-1), and cleaved-PARP-1 in cardiac tissues. The results showed that VA significantly improved cardiac function in mice with CF, reduced myocardial injury area and cardiac index, and decreased serum levels of AST, CK-MB, cTnI, LDH, ROS, IL-1β, IL-6, IL-18, and TNF-α. VA also lowered MDA and MPO levels, mRNA expressions of IL-1β, IL-6, IL-18, and TNF-α, and mRNA and protein expressions of Coll Ⅰ, Coll Ⅲ, and α-SMA in cardiac tissues, and increased serum levels of IL-4 and IL-10, cardiac tissue levels of CAT, GSH, SOD, and T-AOC, and mRNA expressions of IL-4 and IL-10. Additionally, VA ameliorated cardiac pathological damage, inhibited myocardial cell apoptosis, inflammatory infiltration, and collagen fiber deposition, reduced collagen volume fraction, and alleviated mitochondrial damage. VA decreased the ratio of F4/80~+CD86~+ M1 cells and the mRNA expressions of CD86 and iNOS in cardiac tissue, and increased the ratio of F4/80~+CD206~+ M2 cells and the mRNA expressions of CD206 and Arg-1. VA also reduced protein expressions of p-Drp1, VDAC, NLRP3, ASC, caspase-1, cleaved-caspase-1, GSDMD, GSDMD-N, IL-1β, IL-18, Bad, Bax, Apaf-1, cleaved-caspase-3, cleaved-caspase-9, cleaved-PARP-1, and cytoplasmic cytochrome C, and increased the expressions of HK1, Bcl-2, Bcl-xl, pro-caspase-3, pro-caspase-9 proteins, as well as the Bcl-2/Bax and Bcl-xl/Bad ratios and mitochondrial cytochrome C content. These results indicate that VA has a significant ameliorative effect on ISO-induced CF in mice, alleviates ISO-induced oxidative damage and inflammatory response, and its mechanism may be closely related to the inhibition of Drp1/HK1/NLRP3 and mitochondrial apoptosis signaling pathways, suppression of myocardial cell inflammatory infiltration and collagen fiber deposition, reduction of collagen volume fraction and CollⅠ, Coll Ⅲ, and α-SMA expressions, thus mitigating CF.
Animals
;
Isoproterenol/adverse effects*
;
Male
;
Mice
;
Signal Transduction/drug effects*
;
Vanillic Acid/administration & dosage*
;
Dynamins/genetics*
;
Mice, Inbred C57BL
;
Fibrosis/genetics*
;
Apoptosis/drug effects*
;
Mitochondria/metabolism*
;
NLR Family, Pyrin Domain-Containing 3 Protein/genetics*
;
Myocardium/metabolism*
;
Humans
4.Reduction in mitochondrial DNA methylation leads to compensatory increase in mitochondrial DNA content: novel blood-borne biomarkers for monitoring occupational noise.
Jia-Hao YANG ; Zhuo-Ran LI ; Zhuo-Zhang TAN ; Wu-Zhong LIU ; Qiang HOU ; Pin SUN ; Xue-Tao ZHANG
Environmental Health and Preventive Medicine 2025;30():40-40
BACKGROUND:
Prolonged occupational noise exposure poses potential health risks, but its impact on mitochondrial DNA (mtDNA) damage and methylation patterns remains unclear.
METHOD:
We recruited 306 factory workers, using average binaural high-frequency hearing thresholds from pure-tone audiometry to assess noise exposure. MtDNA damage was evaluated through mitochondrial DNA copy number (mtDNAcn) and lesion rate, and mtDNA methylation changes were identified via pyrophosphate sequencing.
RESULTS:
There was a reduction in MT-RNR1 methylation of 4.52% (95% CI: -7.43% to -1.62%) among workers with abnormal hearing, whereas changes in the D-loop region were not statistically significant (β = -2.06%, 95% CI: -4.44% to 0.31%). MtDNAcn showed a negative association with MT-RNR1 methylation (β = -0.95, 95% CI: -1.23 to -0.66), while no significant link was found with D-loop methylation (β = -0.05, 95% CI: -0.58 to 0.48). Mediation analysis indicated a significant increase in mtDNAcn by 10.75 units (95% CI: 3.00 to 21.26) in those with abnormal hearing, with MT-RNR1 methylation mediating 35.9% of this effect.
CONCLUSIONS
These findings suggest that occupational noise exposure may influence compensatory increases in mtDNA content through altered MT-RNR1 methylation.
Humans
;
DNA, Mitochondrial
;
DNA Methylation
;
Male
;
Adult
;
Noise, Occupational/adverse effects*
;
Middle Aged
;
Occupational Exposure/adverse effects*
;
Biomarkers/blood*
;
Female
5.Association of Longitudinal Change in Fasting Blood Glucose with Risk of Cerebral Infarction in a Patients with Diabetes.
Tai Yang LUO ; Xuan DENG ; Xue Yu CHEN ; Yu He LIU ; Shuo Hua CHEN ; Hao Ran SUN ; Zi Wei YIN ; Shou Ling WU ; Yong ZHOU ; Xing Dong ZHENG
Biomedical and Environmental Sciences 2025;38(8):926-934
OBJECTIVE:
To investigate the association between long-term glycemic control and cerebral infarction risk in patients with diabetes through a large-scale cohort study.
METHODS:
This prospective, community-based cohort study included 12,054 patients with diabetes. From 2006 to 2012, 38,272 fasting blood glucose (FBG) measurements were obtained from these participants. FBG trajectory patterns were generated using latent mixture modelling. Cox proportional hazards models were applied to assess the subsequent risk of cerebral infarction associated with different FBG trajectory patterns.
RESULTS:
At baseline, the mean age of the participants was 55.2 years. Four distinct FBG trajectories were identified based on FBG concentrations and their changes over the 6-year follow-up period. After a median follow-up of 6.9 years, 786 cerebral infarction events were recorded. Different trajectory patterns were associated with significantly varied outcome risks (Log-Rank P < 0.001). Compared with the low-stability group, Hazard Ratio ( HR) adjusted for potential confounders were 1.37 for the moderate-increasing group, 1.23 for the elevated-decreasing group, and 2.08 for the elevated-stable group.
CONCLUSION
Sustained high FBG levels were found to play a critical role in the development of ischemic stroke among patients with diabetes. Controlling FBG levels may reduce the risk of cerebral infarction.
Humans
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Cerebral Infarction/blood*
;
Middle Aged
;
Male
;
Female
;
Blood Glucose/analysis*
;
Fasting/blood*
;
Aged
;
Prospective Studies
;
Risk Factors
;
Diabetes Mellitus/blood*
;
Adult
;
Proportional Hazards Models
6.Application of ultrasound-guided thoracic paravertebral nerve block combined with PCIA for postoperative analgesia of open partial hepatectomy:a randomized controlled trial
Wei RAN ; Yonggang HAO ; Gangming WU
Journal of Army Medical University 2024;46(17):2009-2015
Objective To compare the analgesic efficacy of combined ultrasound-guided thoracic paravertebral block(TPVB)with patient-controlled intravenous analgesia(PCIA)versus simple PCIA after open partial hepatic resection.Methods A total of 120 patients undergoing elective open partial liver resection in our hospital from September 2020 to September 2022 were prospectively recru ited,and then randomly divided into the TPVB+PCIA group(Group A)and simple PCIA group(Group B),with 60 patients in each group.Finally,there were 112 patients meeting the criteria and completing statistical analysis.The patients in Group A underwent TPVB at T8~T9 in the left lateral position before anesthesia induction,with injection of 0.33%30 mL ropivacaine.The patients in Group B had no above treatment.Both groups were given PCIA analgesia pump after surgery.The main outcome measures were analgesia levels at 4,8,12,24 and 48 h after surgery and VAS pain scores at rest and activity.The secondary outcome measures included mean ventricular rate and mean arterial pressure during operation,time required for the first postoperative analgesia relief,number of patients for the first postoperative analgesia relief 48 h after the operation,time for the first postoperative ground exercise,time for postoperative anal exhaust,total number of postoperative hospital days,and incidence of postoperative adverse reactions.Results Compared with the patients of Group B,those of Group A had significantly lower scores of resting VAS and exercise VAS scores at 4,8,12 and 24 h after operation(P<0.001),decreased mean heart rate and mean arterial blood pressure during operation(P<0.01),less cumulative consumption of tramadol within 48 h(P=0.018),extended time for first postoperative analgesic need(P<0.001),decreased average number of PCIA effective compressions and number of relief analgesia(P<0.001),and advanced time of first ground movement and anal exhaust(P<0.001).But,there were no significant differences in VAS scores at 48 h after surgery,total length of postoperative hospital stay and incidence of postoperative adverse reactions between the 2 groups.Conclusion Combined TPVB+PCIA shows better analgesic effect than simple PCIA for open partial hepatectomy,and it can obtain more stable intraoperative circulation and promote rapid postoperative recovery.
7.Efficacy analysis of 3D printing prefixed nail path model assisted lumbar and sacral hemivertebra orthopaedic surgery.
Xiao-Nan WU ; Wei-Ran HU ; Hao-Hao MA ; Yan-Zheng GAO ; Xin-Ge SHI ; Hong-Qiang WANG ; Wen-Sheng LIAO
China Journal of Orthopaedics and Traumatology 2024;37(11):1113-1119
OBJECTIVE:
To analyze the safety and effectiveness of 3D printing prefabricated nail path model assisted lumbosacral hemivertebra orthopaedic surgery.
METHODS:
A retrospective analysis was performed on 8 patients with lumbosacral hemivertebra deformity admitted from January 2016 to July 2021, including 3 males and 5 females, aged 6 to 15 at the time of surgery. The hemivertebra of 4 cases located on the left side and 4 cases on the right side. The hemivertebra of 1 case located at L2,3, 2 cases at L3,4, 2 cases at L4,5, and 3 cases at L5S1. Four cases were fully segmented hemivertebra and 4 cases were incomplete segmented hemivertebra. The patient CT data was imported into Mimics 21.0 software for modeling, and then the model data was imported into 3-Matic software. The vertebra requiring screw placement was selected to simulate the optimal screw placement angle and length, and the model was printed for preoperative planning and intraoperative guidance. All patients underwent orthopedic surgery with the aid of 3D printing preset nail path model. The safety and effectiveness of the 3D printing prefabricated nail tunnel model assisted lumbosacral hemivertebra orthopaedic surgery was evaluated by comparing the imaging parameters of the patients. The main outcome measures were the Cobb angle of the main curve, the Cobb angle of the proximal compensatory curve, the coronal balance index C7 plumb line-center sacral vertical line(C7PL-CSVL), the accuracy of nail placement, and the correction rate of scoliosis before surgery, 1 week and 1 year after surgery.
RESULTS:
All of 8 patients were followed up for 13 to 31 months. A total of 98 pedicle screws were placed in 8 patients. The number of pedicle screw grades A, B, C, D, E was 38, 46, 10, 4, 0 screws. The screws of grade A and B were defined as good position, the accuracy rate of screw placement was 85.7%. The Cobb angle of the main curve were 21° to 38° before operation, 5° to 11° at 1 week after operation, 7°to 12° at 1 year after operation. The Cobb angle of the proximal compensatory curve were 16° to 39° befoer operation, 7° to 12 °at 1 week after operation, 7° to 14° at 1 year after operation, the correction effect remained good with no correction loss. The coronal balance index C7PL-CSVL were 20 to 35 mm before operation, 11 to 18 mm at 1 week after operation, 10 to 16 mm at 1 year after operation, the coronal imbalance improved. The scoliosis correction rate was 65.6% to 84.2% 1 week after surgery, and 61.9% to 81.6% 1 year after surgery.
CONCLUSION
The use of 3D printing prefixed nail tunnel model in lumbosacral hemivertebra osteotomy is safe and effective, and can significantly improve patients' local deformities. It is a reliable method to assist lumbar sacral hemivertebra osteotomy.
Humans
;
Printing, Three-Dimensional
;
Female
;
Male
;
Adolescent
;
Retrospective Studies
;
Child
;
Lumbar Vertebrae/surgery*
;
Sacrum/abnormalities*
;
Bone Nails
;
Orthopedic Procedures/instrumentation*
8.Bendamustine combined with pomalidomide and dexamethasone in relapsed multiple myeloma with extramedullary disease: a multicenter study.
Hong Ying WU ; Xia ZHOU ; Xiao Xia CHU ; Xiu Zhi DENG ; Cheng Lu YUAN ; Xue Hong RAN ; Guo Qiang LIU ; Chuan Bo FAN ; Hong Yuan HAO ; Yu Ping ZHONG
Chinese Journal of Hematology 2023;44(8):667-671
Objective: To evaluate the efficacy and safety of bendamustine combined with pomalidomide and dexamethasone (BPD regimen) in the treatment of relapsed multiple myeloma (MM) with extramedullary disease. Methods: This open, single-arm, multicenter prospective cohort study included 30 relapsed MM patients with extramedullary disease diagnosed in seven hospitals including Qingdao Municipal Hospital. The patients were treated with BPD regimen from February 2021 to November 2022. This study analyzed the efficacy and adverse reactions of the BPD regimen. Results: The median age of the 30 patients was 62 (47-72) years, of which 18 (60% ) had first-time recurrence. The overall response rate (ORR) of the 18 patients with first-time recurrence was 100%, of which three (16.7% ) achieved complete remission, 10 (55.5% ) achieved very good partial remission (VGPR), and five (27.8% ) achieved partial remission (PR). The ORR of 12 patients with recurrence after second-line or above treatment was 50%, including zero patients with ≥VGPR and six patients (50% ) with PR. Three cases (25% ) had stable disease, and three cases (25% ) had disease progression. The one-year progression free survival rate of all patients was 65.2% (95% CI 37.2% -83.1% ), and the 1-year overall survival rate was 90.0% (95% CI 76.2% -95.4% ). The common grade 3-4 hematology adverse reactions included two cases (6.7% ) of neutropenia and one case (3.3% ) of thrombocytopenia. The overall adverse reactions are controllable. Conclusions: The BPD regimen has good efficacy and tolerance in relapsed MM patients with extramedullary disease.
Humans
;
Middle Aged
;
Aged
;
Multiple Myeloma/drug therapy*
;
Bendamustine Hydrochloride/therapeutic use*
;
Prospective Studies
;
Dexamethasone/therapeutic use*
;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
9.Manual reduction of severe cervical fracture and dislocation combined with anterior and posterior surgery under general anesthesia:a case report and literature review.
Yue-Peng SONG ; Xin-Ge SHI ; Wei-Ran HU ; Hao-Hao MA ; Shuai XING ; Xiao-Nan WU
China Journal of Orthopaedics and Traumatology 2023;36(1):64-67
10.Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates.
Fei-Fan XIAO ; Yu-Lan LU ; Bing-Bing WU ; Xin-Ran DONG ; Guo-Qiang CHENG ; Li-Yuan HU ; Wen-Hao ZHOU ; Xiao-Min PENG ; Lin YANG ; Hui-Jun WANG
Chinese Journal of Contemporary Pediatrics 2023;25(2):135-139
OBJECTIVES:
To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates.
METHODS:
The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates.
RESULTS:
A total of 15 neonates were tested, among whom there were 9 boys and 6 girls. The main reason for hospitalization included abnormal breathing in 7 neonates, poor response in 2 neonates, feeding difficulty in 2 neonates, fever in 1 neonate, hypothermia in 1 neonate, preterm birth in 1 neonate, and convulsion in 1 neonate. The mean turn-around time was 4.5 days for WGS. Finally a genetic diagnosis was obtained for 3 neonates, with a positive diagnostic rate of 20% (3/15). Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by the results of genetic testing.
CONCLUSIONS
WGS technique can provide a timely and effective diagnosis for critically ill neonates suspected of genetic diseases and provide genetic evidence for clinical treatment of critically ill cases.
Infant, Newborn
;
Male
;
Child
;
Female
;
Humans
;
Critical Illness
;
Prospective Studies
;
Premature Birth
;
Dyspnea
;
Fever


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