1.Risk factors for mortality in neonatal necrotizing enterocolitis: analysis of 118 cases
Yueju CAI ; Yuying LIN ; Dabin HUANG ; Xiaowen CHEN ; Yongjiang JIANG ; Wei ZHOU
Chinese Journal of Perinatal Medicine 2025;28(2):142-149
Objective:To investigate the risk factors for mortality in neonates with necrotizing enterocolitis (NEC).Methods:This retrospective cohort study included patients diagnosed with NEC at stage Ⅱ-Ⅲ (Bell's criteria) and admitted to the Neonatology Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University from January 2017 to December 2022. According to the outcomes, these patients were divided into the mortality and survival groups. Perinatal conditions, clinical manifestations, disease status during hospitalization, and blood routine parameters at different time points after birth were compared between the two groups to analyze the risk factors for mortality of NEC. Statistical analysis was performed using independent-sample t-test, Mann-Whitney U test, Chi-square test (or Fisher's exact test), and multivariate logistic regression analysis. Results:(1) A total of 118 NEC cases were included, with 100 in the survival group and 18 in the mortality group. (2) The gestational age and birth weight were significantly lower in the mortality group than in the survival group [(28.9±4.2) weeks vs. (33.7±3.9) weeks, t=4.78; 940 g (685-1 275 g) vs. 1 830 g (1 352-2 368 g), Z=4.18; both P<0.05]. The incidence of neonatal asphyxia was higher in the mortality group [9/18 vs. 18% (18/100), χ2=7.13, P<0.05]. (3) Compared with the survival group, the mortality group had higher proportions of patients who were at NEC stage Ⅲ, accepted surgery, were treated with vasoactive drugs, had undergone invasive mechanical ventilation, or had metabolic acidosis, hyperlactatemia, shock, or hematochezia [17/18 vs. 24% (24/100), χ2=33.39; 17/18 vs. 31% (31/100), χ2=22.88; 16/18 vs. 22% (22/100), χ2=31.26; 16/18 vs. 39% (39/100), χ2=15.26; 18/18 vs. 28% (28/100), χ2=30.29; 16/18 vs. 20% (20/100), χ2=34.15; 17/18 vs. 21% (21/100), χ2=37.69; 9/18 vs. 82% (82/100), χ2=7.13; all P<0.05]. (4) The proportions of patients who developed late-onset sepsis, hemodynamically- significant patent ductus arteriosus, respiratory distress syndrome, or pulmonary hemorrhage were significantly higher in the mortality group than in the survival group [15/18 vs. 33% (33/100), χ2=16.01; 9/18 vs. 21% (21/100), χ2=5.32; 15/18 vs. 39% (39/100), χ2=12.08; 7/18 vs. 7% (7/100), χ2=11.94; all P<0.05]. (5) Within 24 h of birth, the levels of red blood cells and platelets were lower in the mortality group than in the survival group [4.1×1012/L (3.8×10 12/L-4.6×10 12/L) vs. 4.6×10 12/L (4.0×10 12/L-4.9×10 12/L), Z=2.04; (199.9±68.6)×10 9/L vs. (239.8±72.6)×10 9/L, t=2.16; both P<0.05]; at 6-8 d after birth, the levels of red blood cells, hemoglobin (Hb) and hematocrit (HCT) were lower in the mortality group than in the survival group [(3.2±0.5)×10 12/L vs. (3.9±0.8)×10 12/L, t=3.30; (111.2±19.2) vs. (138.1±28.3) g/L, t=3.51; (33.0±5.4)% vs. (40.9±8.1)%, t=3.61; all P<0.05]; at the diagnosis of NEC, red blood cell count, Hb level, HCT, and platelet count were lower in the mortality group than in the survival group [(3.3±1.0)×10 12/L vs. (3.8±0.8)×10 12/L, t=2.47; (102.8±28.8) vs. (124.4±26.3) g/L, t=3.59; 31.0% (25.9%-38.4%) vs. 37.2% (31.5%-43.7%), Z=2.62; 87.0×10 9/L (50.2×10 9/L-157.0×10 9/L) vs. 228.0×10 9/L (130.0×10 9/L-414.7×10 9/L), Z=3.78; all P<0.05], while mean platelet volume (MPV), platelet distribution width, and the differences in hemoglobin (ΔHb) and hematocrit (ΔHCT) between the first 24 h after birth and 6-8 d after birth were significantly higher in the mortality group than in the survival group [13.1 fl (11.4-13.6 fl) vs. 11.6 fl (10.7-12.4 fl), Z=3.26; 19.6% (13.9%-25.2%) vs. 14.8% (12.0%-18.6%), Z=2.76; 35.5 g/L (28.3-57.3 g/L) vs. 27.0 g/L (8.0-42.5 g/L), Z=2.20;11.5% (9.4%-16.3%) vs. 6.3% (2.2%-11.2%), Z=2.85; all P<0.05]. (6) Late-onset sepsis ( OR=5.568, 95% CI: 1.201-25.816), hyperlactatemia ( OR=6.702, 95% CI: 1.193-37.651), shock ( OR=10.616, 95% CI: 1.157-97.406) and MPV elevation at the diagnosis of NEC ( OR=2.769, 95% CI: 1.468-5.223) were independent risk factors, while gestational age ( OR=0.836, 95% CI: 0.708-0.986), and HCT at 6-8 d after birth ( OR=0.848, 95% CI: 0.759-0.947) were protecting fctors for death in NEC. Conclusions:Preterm infants with smaller gestational age are more prone to mortality of NEC. Early identification and management of late-onset sepsis, shock, and hyperlactatemia may reduce the risk of mortality in NEC.
2.Ameliorative effects of sweet potato leaf extract on mammary gland oxidative stress and rumenmicrobiota in dairy goats under high concentrate feeding pattern
Ziqing XIU ; Ling ZHANG ; Junqiu ZHANG ; Yu CHEN ; Mgeni MUSA ; Yongjiang WU ; Juncai CHEN ; Yawang SUN ; You YANG
Chinese Journal of Veterinary Science 2025;45(9):1952-1964
This study aimed to investigate the effects of sweet potato leaf extract on production per-formance,systematic and mammary gland oxidative stress status and rumen microbiota of dairy goats fed high concentrate diets.Twenty Guanzhong dairy goats with same parity,similar lactation period(120±15)d and healthy body condition were selected and randomly divided into four groups:low-concentrate(LC),low-concentrate supplemented with 1%sweet potato leaf extract(LCS),high-concentrate(HC)and high-concentrate supplemented with 1%sweet potato leaf ex-tract(HCS).The experimental period was 35 days.The results showed that in the third week,milk yield in the HCS group was significantly higher than that in the LC and LCS groups(P<0.05).The content of lipopolysaccharide in the rumen fluid of the HC group was significantly higher than that of the other three groups(P<0.05),the content of malondialdehyde in the serum of the HC group was significantly higher than that of the LCS group(P<0.05),the content of reactive oxygen species,protein carbonyl,8-hydroxydeoxyguanosine in the milk of the HC group was sig-nificantly higher than that of the LC and LCS groups(P<0.05),GSH-Px in HCS group was sig-nificantly higher than that in the other three groups(P<0.05).After the addition of sweet potato leaf extract,there was an increasing trend in the content of Anabaena phylum at the phylum level.In the joint analysis of genera,rumen fluid LPS showed highly significant negative correlation with Succiniclasticum(P<0.01)and negative correlation with Prevotella(P<0.05).Valeric acid was negatively correlated with Prevotella(P<0.05).The pH value was negatively correlated with Treponema(P<0.05).Butyric acid was positively correlated with Anaeroplasma(P<0.05).In conclusion,the addition of sweet potato leaf extract to the diet can increase milk production and al-leviate the state of mammary gland oxidative stress,as well as improving rumen microbial diversi-ty of dairy goats.
3.A novel gamma-ray cone-beam focused stereotactic radiotherapy system
Gang LI ; Wenhong FAN ; Wencheng WANG ; Feng ZHANG ; Huafeng CHEN ; Jun LI ; Hua ZHENG ; Yongjiang MA ; Bihong ZHAN ; Liting QIAN ; Aidong WU ; Jieping ZHOU
Chinese Journal of Medical Physics 2025;42(7):878-882
Stereotactic radiotherapy is widely favored because of its high treatment precision and less fractionations.ZND-A is a new domestic gamma-ray cone-beam focused stereotactic radiotherapy system.Herein the technical characteristics of ZND-A system are described in detail from the aspects of the treatment frame,gamma-ray module,collimator module,six-dimensional treatment couch module and image-guided system module,and the main parameters are compared with the mainstream gamma knife equipments at home and abroad.With reference to Response Evaluation Criteria in Solid Tumors(RECIST 1.1),the initial efficacy of the patients treated by the ZND-A system is analyzed to evaluate the advantages and disadvantages of the ZND-A system for providing a reference for the hospital clinical use of this type of gamma knife.
4.Ameliorative effects of sweet potato leaf extract on mammary gland oxidative stress and rumenmicrobiota in dairy goats under high concentrate feeding pattern
Ziqing XIU ; Ling ZHANG ; Junqiu ZHANG ; Yu CHEN ; Mgeni MUSA ; Yongjiang WU ; Juncai CHEN ; Yawang SUN ; You YANG
Chinese Journal of Veterinary Science 2025;45(9):1952-1964
This study aimed to investigate the effects of sweet potato leaf extract on production per-formance,systematic and mammary gland oxidative stress status and rumen microbiota of dairy goats fed high concentrate diets.Twenty Guanzhong dairy goats with same parity,similar lactation period(120±15)d and healthy body condition were selected and randomly divided into four groups:low-concentrate(LC),low-concentrate supplemented with 1%sweet potato leaf extract(LCS),high-concentrate(HC)and high-concentrate supplemented with 1%sweet potato leaf ex-tract(HCS).The experimental period was 35 days.The results showed that in the third week,milk yield in the HCS group was significantly higher than that in the LC and LCS groups(P<0.05).The content of lipopolysaccharide in the rumen fluid of the HC group was significantly higher than that of the other three groups(P<0.05),the content of malondialdehyde in the serum of the HC group was significantly higher than that of the LCS group(P<0.05),the content of reactive oxygen species,protein carbonyl,8-hydroxydeoxyguanosine in the milk of the HC group was sig-nificantly higher than that of the LC and LCS groups(P<0.05),GSH-Px in HCS group was sig-nificantly higher than that in the other three groups(P<0.05).After the addition of sweet potato leaf extract,there was an increasing trend in the content of Anabaena phylum at the phylum level.In the joint analysis of genera,rumen fluid LPS showed highly significant negative correlation with Succiniclasticum(P<0.01)and negative correlation with Prevotella(P<0.05).Valeric acid was negatively correlated with Prevotella(P<0.05).The pH value was negatively correlated with Treponema(P<0.05).Butyric acid was positively correlated with Anaeroplasma(P<0.05).In conclusion,the addition of sweet potato leaf extract to the diet can increase milk production and al-leviate the state of mammary gland oxidative stress,as well as improving rumen microbial diversi-ty of dairy goats.
5.Effect of electroacupuncture on intestinal flora in COPD rats based on gut-lung axis theory.
Daohong CHEN ; Ying CHEN ; Wenchuan QI ; Qian ZENG ; Ziyang ZHOU ; Ziwen WANG ; Yongjiang FANG ; Shuguang YU ; Ling ZHAO
Chinese Acupuncture & Moxibustion 2025;45(7):967-981
OBJECTIVE:
To observe the effect of electroacupuncture (EA) on the intestinal flora in rats with chronic obstructive pulmonary disease (COPD) and explore its possible mechanism based on the gut-lung axis theory.
METHODS:
A total of 30 male SD rats of SPF grade were randomly divided into a normal control (NC) group, a model group and an EA group, 10 rats in each one. In the model group and the EA group, COPD model was established by intratracheal instillation of lipopolysaccharide combined with cigarette fumigation. In the EA group, EA was applied at bilateral "Feishu" (BL13) and "Zusanli" (ST36), with disperse-dense waves, in frequency of 4 Hz/20 Hz, current of 1-3 mA, 20 min a time, once a day for 14 days continuously. Before and after modeling, as well as after intervention, body weight was observed; after intervention, the lung function indexes (forced expiratory volume in 0.1 second [FEV0.1], FEV0.1/forced vital capacity [FVC]%, forced expiratory volume in 0.3 second [FEV0.3] and FEV0.3/FVC%) were measured, serum levels of inflammatory factors (tumor necrosis factor-α[TNF-α], interleukin-6[IL-6], interleukin-1β[IL-1β] and interleukin-10[IL-10]) were detected by ELISA, histopathology of lung and colon tissues was observed by HE staining, the intestinal flora were analyzed by 16S rRNA, and the correlations between lung function and intestinal flora were analyzed.
RESULTS:
Compared with the NC group, in the COPD group, the body weight and lung function indexes were reduced (P<0.01); the lung and colon tissues were damaged, the mean linear intercept (MLI) of alveolus and inflammatory cell numbers of 100 μm2 in lung tissue were increased (P<0.01); the serum levels of TNF-α, IL-6 and IL-1β were increased (P<0.01, P<0.05), and the serum level of IL-10 was decreased (P<0.01); α-diversity indexes of intestinal flora were increased (P<0.01); the relative abundance of Bacteroidetes, Proteobacteria and Oscillospira, Bacteroides, Coprococcus was increased (P<0.01), the relative abundance of Firmicutes, Actinobacteria, Tenericutes, TM7 and Lactobacillus, Allobaculum, Bifidobacterium, YRC22 was decreased (P<0.01, P<0.05); 31 different expressed metabolic pathways were identified between the two groups. Compared with the COPD group, in the EA group, the body weight and lung function indexes were increased (P<0.01); the damage of lung and colon tissues was improved, the MLI of alveolus was decreased (P<0.05); the serum levels of TNF-α, IL-6 and IL-1β were decreased (P<0.05), and the serum level of IL-10 was increased (P<0.05); α-diversity indexes of intestinal flora were decreased (P<0.01); the relative abundance of Bacteroidetes, Proteobacteria and Oscillospira, Bacteroides, Coprococcus was decreased (P<0.01, P<0.05), the relative abundance of Firmicutes, Actinobacteria, Tenericutes, TM7 and Lactobacillus, Allobaculum, Bifidobacterium, YRC22 was increased (P<0.01); 35 different expressed metabolic pathways were identified between the two groups. The lung function was positive related with Actinobacteria, Tenericutes, TM7 and YRC22, and was negative related with Bacteroidetes, Proteobacteria and Oscillospira, Bacteroides, Coprococcus.
CONCLUSION
EA may ameliorate lung function and tissue injury of COPD by regulating intestinal flora dysbiosis and inflammatory response, suggesting an anti-inflammatory effect mediated via "gut-lung" axis.
Animals
;
Pulmonary Disease, Chronic Obstructive/genetics*
;
Male
;
Electroacupuncture
;
Rats
;
Rats, Sprague-Dawley
;
Lung/metabolism*
;
Gastrointestinal Microbiome
;
Humans
;
Interleukin-6/immunology*
;
Tumor Necrosis Factor-alpha/immunology*
;
Intestines/microbiology*
;
Interleukin-10/immunology*
6.Risk factors for mortality in neonatal necrotizing enterocolitis: analysis of 118 cases
Yueju CAI ; Yuying LIN ; Dabin HUANG ; Xiaowen CHEN ; Yongjiang JIANG ; Wei ZHOU
Chinese Journal of Perinatal Medicine 2025;28(2):142-149
Objective:To investigate the risk factors for mortality in neonates with necrotizing enterocolitis (NEC).Methods:This retrospective cohort study included patients diagnosed with NEC at stage Ⅱ-Ⅲ (Bell's criteria) and admitted to the Neonatology Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University from January 2017 to December 2022. According to the outcomes, these patients were divided into the mortality and survival groups. Perinatal conditions, clinical manifestations, disease status during hospitalization, and blood routine parameters at different time points after birth were compared between the two groups to analyze the risk factors for mortality of NEC. Statistical analysis was performed using independent-sample t-test, Mann-Whitney U test, Chi-square test (or Fisher's exact test), and multivariate logistic regression analysis. Results:(1) A total of 118 NEC cases were included, with 100 in the survival group and 18 in the mortality group. (2) The gestational age and birth weight were significantly lower in the mortality group than in the survival group [(28.9±4.2) weeks vs. (33.7±3.9) weeks, t=4.78; 940 g (685-1 275 g) vs. 1 830 g (1 352-2 368 g), Z=4.18; both P<0.05]. The incidence of neonatal asphyxia was higher in the mortality group [9/18 vs. 18% (18/100), χ2=7.13, P<0.05]. (3) Compared with the survival group, the mortality group had higher proportions of patients who were at NEC stage Ⅲ, accepted surgery, were treated with vasoactive drugs, had undergone invasive mechanical ventilation, or had metabolic acidosis, hyperlactatemia, shock, or hematochezia [17/18 vs. 24% (24/100), χ2=33.39; 17/18 vs. 31% (31/100), χ2=22.88; 16/18 vs. 22% (22/100), χ2=31.26; 16/18 vs. 39% (39/100), χ2=15.26; 18/18 vs. 28% (28/100), χ2=30.29; 16/18 vs. 20% (20/100), χ2=34.15; 17/18 vs. 21% (21/100), χ2=37.69; 9/18 vs. 82% (82/100), χ2=7.13; all P<0.05]. (4) The proportions of patients who developed late-onset sepsis, hemodynamically- significant patent ductus arteriosus, respiratory distress syndrome, or pulmonary hemorrhage were significantly higher in the mortality group than in the survival group [15/18 vs. 33% (33/100), χ2=16.01; 9/18 vs. 21% (21/100), χ2=5.32; 15/18 vs. 39% (39/100), χ2=12.08; 7/18 vs. 7% (7/100), χ2=11.94; all P<0.05]. (5) Within 24 h of birth, the levels of red blood cells and platelets were lower in the mortality group than in the survival group [4.1×1012/L (3.8×10 12/L-4.6×10 12/L) vs. 4.6×10 12/L (4.0×10 12/L-4.9×10 12/L), Z=2.04; (199.9±68.6)×10 9/L vs. (239.8±72.6)×10 9/L, t=2.16; both P<0.05]; at 6-8 d after birth, the levels of red blood cells, hemoglobin (Hb) and hematocrit (HCT) were lower in the mortality group than in the survival group [(3.2±0.5)×10 12/L vs. (3.9±0.8)×10 12/L, t=3.30; (111.2±19.2) vs. (138.1±28.3) g/L, t=3.51; (33.0±5.4)% vs. (40.9±8.1)%, t=3.61; all P<0.05]; at the diagnosis of NEC, red blood cell count, Hb level, HCT, and platelet count were lower in the mortality group than in the survival group [(3.3±1.0)×10 12/L vs. (3.8±0.8)×10 12/L, t=2.47; (102.8±28.8) vs. (124.4±26.3) g/L, t=3.59; 31.0% (25.9%-38.4%) vs. 37.2% (31.5%-43.7%), Z=2.62; 87.0×10 9/L (50.2×10 9/L-157.0×10 9/L) vs. 228.0×10 9/L (130.0×10 9/L-414.7×10 9/L), Z=3.78; all P<0.05], while mean platelet volume (MPV), platelet distribution width, and the differences in hemoglobin (ΔHb) and hematocrit (ΔHCT) between the first 24 h after birth and 6-8 d after birth were significantly higher in the mortality group than in the survival group [13.1 fl (11.4-13.6 fl) vs. 11.6 fl (10.7-12.4 fl), Z=3.26; 19.6% (13.9%-25.2%) vs. 14.8% (12.0%-18.6%), Z=2.76; 35.5 g/L (28.3-57.3 g/L) vs. 27.0 g/L (8.0-42.5 g/L), Z=2.20;11.5% (9.4%-16.3%) vs. 6.3% (2.2%-11.2%), Z=2.85; all P<0.05]. (6) Late-onset sepsis ( OR=5.568, 95% CI: 1.201-25.816), hyperlactatemia ( OR=6.702, 95% CI: 1.193-37.651), shock ( OR=10.616, 95% CI: 1.157-97.406) and MPV elevation at the diagnosis of NEC ( OR=2.769, 95% CI: 1.468-5.223) were independent risk factors, while gestational age ( OR=0.836, 95% CI: 0.708-0.986), and HCT at 6-8 d after birth ( OR=0.848, 95% CI: 0.759-0.947) were protecting fctors for death in NEC. Conclusions:Preterm infants with smaller gestational age are more prone to mortality of NEC. Early identification and management of late-onset sepsis, shock, and hyperlactatemia may reduce the risk of mortality in NEC.
7.A novel gamma-ray cone-beam focused stereotactic radiotherapy system
Gang LI ; Wenhong FAN ; Wencheng WANG ; Feng ZHANG ; Huafeng CHEN ; Jun LI ; Hua ZHENG ; Yongjiang MA ; Bihong ZHAN ; Liting QIAN ; Aidong WU ; Jieping ZHOU
Chinese Journal of Medical Physics 2025;42(7):878-882
Stereotactic radiotherapy is widely favored because of its high treatment precision and less fractionations.ZND-A is a new domestic gamma-ray cone-beam focused stereotactic radiotherapy system.Herein the technical characteristics of ZND-A system are described in detail from the aspects of the treatment frame,gamma-ray module,collimator module,six-dimensional treatment couch module and image-guided system module,and the main parameters are compared with the mainstream gamma knife equipments at home and abroad.With reference to Response Evaluation Criteria in Solid Tumors(RECIST 1.1),the initial efficacy of the patients treated by the ZND-A system is analyzed to evaluate the advantages and disadvantages of the ZND-A system for providing a reference for the hospital clinical use of this type of gamma knife.
8.RRM2 promotes tumor progression by interfering with G2/M cycle of prostate cancer cells
Liang ZHOU ; Yulong PAN ; Chao QIAO ; Yongjiang CHEN ; Hui ZHUO ; Qiang LI
Journal of Modern Urology 2023;28(4):351-358
【Objective】 To investigate the role of RRM2 in prostate cancer and the mechanism. 【Methods】 The data of prostate cancer expression profile were downloaded from The Cancer Genome Atlas (TCGA). The correlation between RRM2 expression and clinicopathological features and prognosis of prostate cancer was analyzed. The protein expressions of RRM2 in 55 cases of prostate cancer and 38 benign tissues were determined with immunohistochemistry (IHC). The effects of RRM2 on the biological process of prostate cancer were assessed with bioinformatic analysis. The biological process of RRM2 affecting the progression of prostate cancer was verified with Western blot and flow cytometry. 【Results】 RRM2 was highly expressed in prostate cancer, and the expression was positively correlated with the clinical stage, pathological grade and metastasis of prostate cancer (P<0.05). Higher RRM2 expression predicted poorer survival. RRM2 co-expression positively correlated genes were involved in cell cycle pathways, pyrimidine nucleotide metabolism, and biological processes such as RNA transport. Cell cycle pathways were significantly enriched. RRM2 was highly correlated with CDK1 and PCNA molecules. RRM2 knockdown reduced the protein expressions of CDK1 and PCNA in DU145 and LNCap cell lines, which were arrested in the G2/M phase. 【Conclusion】 RRM2 promotes tumor progression by interfering with G2/M cycle of prostate cancer cells.
9.Analysis of IVD gene variants in four children with isovalerate acidemia.
Jianqiang TAN ; Min ZHENG ; Ren CAI ; Ting ZENG ; Biao YIN ; Jinling YANG ; Ba WEI ; Ronni CHANG ; Yongjiang JIANG ; Dejian YUAN ; Lizhen PAN ; Lihua HUANG ; Haiping NING ; Jiangyan WEI ; Dayu CHEN
Chinese Journal of Medical Genetics 2022;39(12):1339-1343
OBJECTIVE:
To detect variants of IVD gene among 4 neonates with suspected isovalerate acidemia in order to provide a guidance for clinical treatment.
METHODS:
111 986 newborns and 7461 hospitalized children with suspected metabolic disorders were screened for acyl carnitine by tandem mass spectrometry. Those showing a significant increase in serum isovaleryl carnitine (C5) were analyzed for urinary organic acid and variants of the IVD gene.
RESULTS:
Four cases of isovalerate acidemia were detected, which included 2 asymptomatic newborns (0.018‰, 2/111 986) and 2 children suspected for metabolic genetic diseases (0.268‰, 2/7461). The formers had no obvious clinical symptoms. Analysis of acyl carnitine has suggested a significant increase in C5, and urinary organic acid analysis has shown an increase in isovaleryl glycine and 3-hydroxyisovalerate. Laboratory tests of the two hospitalized children revealed high blood ammonia, hyperglycemia, decreased red blood cells, white blood cells, platelets and metabolic acidosis. The main clinical manifestations have included sweaty foot-like odor, feeding difficulty, confusion, drowsiness, and coma. Eight variants (5 types) were detected, which included c.158G>A (p.Arg53His), c.214G>A (p.Asp72Asn), c.548C>T (p.Ala183Val), c.757A>G (p.Thr253Ala) and 1208A>G (p.Tyr403Cys). Among these, c.548C>T and c.757A>G were unreported previously. None of the variants was detected by next generation sequencing of 2095 healthy newborns, and all variants were predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.
CONCLUSION
The incidence of isovalerate acidemia in Liuzhou area is quite high. Screening of metabolic genetic diseases is therefore recommended for newborns with abnormal metabolism. The discovery of novel variants has enriched the mutational spectrum of the IVD gene.
Infant, Newborn
;
Child
;
Humans
;
Acidosis
;
Carnitine
;
Erythrocytes
;
High-Throughput Nucleotide Sequencing
10.Prenatal diagnosis and genetic counselling for a pedigree carrying a large fragment deletion of 13q.
Qinghua WU ; Xin CHEN ; Saisai YANG ; Shumin REN ; Zhihui JIAO ; Yaqin HOU ; Yongjiang ZHAO ; Yibing CHEN ; Huirong SHI ; Xiangdong KONG
Chinese Journal of Medical Genetics 2022;39(3):334-337
OBJECTIVE:
To carry out prenatal diagnosis for a fetus with normal ultrasonographic finding at 20 weeks' gestation but a copy number variant(CNV) of 13q indicated by non-invasive prenatal test (NIPT).
METHODS:
Karyotyping analysis and chromosomal CNV assay were carried out on the amniotic fluid sample. Parental peripheral blood sample was collected for chromosomal analysis. Detailed fetal ultrasound scan was carried out to rule out structural abnormalities of the fetus.
RESULTS:
The fetus was detected with a heterozygous 10.14 Mb deletion at 13q21.1q21.32, which has originated from the phenotypically normal mother. No apparent karyotypic abnormality was detected in the fetus and its parents. No ultrasonic abnormality was found in the fetus.
CONCLUSION
Both the fetus and its mother have carried a heterozygous 10.14 Mb deletion at 13q21.1q21.32 and presented normal phenotypes.Combined with literature review, the segmental deletion was judged to be a benign variant.
Female
;
Genetic Counseling
;
Humans
;
Karyotyping
;
Pedigree
;
Pregnancy
;
Prenatal Diagnosis
;
Ultrasonography, Prenatal

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