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1.
Chinese Journal of Pediatrics ; (12): 43-48, 2024.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1013247

ABSTRACT

Objective: To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. Methods: This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology and Affiliated Hospital of Guangdong Medical University from July 2021 to July 2022 were retrospectively collected and analyzed. Literature up to August 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of "Zellweger syndrome" "Zellweger spectrum disorder", and "PEX6 gene" both in Chinese and English. The main clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation were summarized. Results: The 2 male neonates both developed clinical manifestations as dyspnea, hypotonia, feeding difficulties, enlarged fontanelle, and high palatine arch after birth. Biochemical parameters indicated elevated bile acids, and the cranial ultrasound showed the enlarged bilateral ventricles and subependymal cyst in both 2 neonates. Zellweger syndrome was confirmed by whole exome sequencing, and the results revealed PEX6 gene variation in the 2 neonates, including compound heterozygous variants c.315G>A and c.2095-3T>G, and homozygous variant c.506_507del. Case 1 was hospitalized for 5 days, and case 2 for 32 days; they both died shortly after being discharged (the specific time is unknown). Literature review found 26 patients, including 2 neonates in this study, with Zellweger spectrum disorder caused by PEX6 gene defect reported in 1 Chinese article and 11 English articles. Clinical features included hearing loss (19 cases), developmental delay (19 cases), vision impairment (19 cases), elevated very long chain fatty acids (17 cases), brain malformations (15 cases), hypotonia (12 cases), hepatic insufficiency (12 cases), distinctive facies (10 cases), and dental impairment (9 cases). Compound heterozygous variations dominated the variation types (15 cases), and the frameshift variations (16 cases) were the main pathogenic variations. Conclusions: Zellweger spectrum disorder should be considered when neonates show hypotonia, feeding difficulty, distinctive facial appearance, brain malformations and failure of hearing screening, or when older children show retinitis pigmentosa, sensorineural hearing loss, amelogenesis imperfecta and developmental delays. Detection of genetic variation in the PEX gene is crucial for definitive diagnosis.


Subject(s)
Child , Infant, Newborn , Humans , Male , Adolescent , Zellweger Syndrome/diagnosis , Muscle Hypotonia , Retrospective Studies , Frameshift Mutation , Exome Sequencing , Mutation , ATPases Associated with Diverse Cellular Activities/genetics
2.
World J Clin Cases ; 11(34): 8158-8163, 2023 Dec 06.
Article in English | MEDLINE | ID: mdl-38130779

ABSTRACT

BACKGROUND: Methylmalonic acidemia (MMA) is characterized by non-specific symptoms such as vomiting, and feeding difficulties, along with delayed mental and physical development. However, no case of MMA combined with pulmonary fungal infection has been reported yet. CASE SUMMARY: We report the case of a neonate who presented pulmonary fungal infection along with the non-specific features of MMA. Exome sequencing revealed a c.331C>T variant in exon 3 of MMACHC from the father, and a c.658-c.660delAAG variant in exon 4 from the mother, which confirmed the diagnosis of cblC type MMA combined with hyperhomocysteinemia. CONCLUSION: Invasive fungal infection might occur in some infants with MMA. Therefore, early diagnosis is recommended for unexplained pulmonary infection.

3.
Mol Biol Rep ; 50(11): 9699-9705, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37676433

ABSTRACT

BACKGROUND: Sequence variation has been attributed to symptom variations but has not been investigated in Orange Spotting-Coconut cadang-cadang viroid (OS-CCCVd) infected palms. Likewise, the relationship between Coconut cadang-cadang viroid (CCCVd) variants, Orange Spotting (OS) severity and the accumulation of the viroid in the palms have not been elucidated. This paper describes the characterization of CCCVd variants by cloning and sequencing, followed by correlation with symptom expression. METHODS AND RESULTS: Total nucleic acids were extracted from leaf samples harvested from frond 20 of seven Dura × Pisifera (D × P) African oil palm (Elaeis guineensis Jacq.) aged between 13 and 21 years old collected from local plantations. The nucleic acids were fractionated using 5% non-denaturing polyacrylamide gel electrophoresis (PAGE) before being subjected to detection by reverse transcribed polymerase chain reaction (RT-PCR). The PCR products were cloned into a plasmid vector and the sequence of the clones was analyzed. CCCVd variants were quantified using real-time qPCR assay with CCCVd specific primers. Sixteen randomly selected clones of (OP246) had an arbitrary 100% identity with CCCVdOP246 (GeneBank Accession No: HQ608513). Meanwhile, four clones had >93% similarity with several minor sequence variations forming variants of OP234, OP235, OP251 and OP279. CONCLUSION: The OS symptoms observed in the field were characterized into three categories based on the size and morphology of the orange spots on the affected fronds. In addition, there was no direct correlation between disease severity and the accumulation of CCCVd variants in oil palm. This finding is the first report describing the sequence variation of the CCCVd RNA and symptom variation in OS oil palm field samples.


Subject(s)
Arecaceae , Citrus sinensis , Plant Viruses , Base Sequence , Citrus sinensis/genetics , RNA, Viral/genetics , Plant Viruses/genetics , Arecaceae/genetics
4.
Food Sci Nutr ; 11(6): 2925-2941, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37324839

ABSTRACT

Fermentation technology was used to prepare the acaí (Euterpe oleracea) fermentation liquid. The optimal fermentation parameters included a strain ratio of Lactobacillus paracasei: Leuconostoc mesenteroides: Lactobacillus plantarum = 0.5:1:1.5, a fermentation time of 6 days, and a nitrogen source supplemental level of 2.5%. In optimal conditions, the ORAC value of the fermentation liquid reached the highest value of 273.28 ± 6.55 µmol/L Trolox, which was 55.85% higher than the raw liquid. In addition, the FRAP value of the acaí, as well as its scavenging ability of DPPH, hydroxyl, and ABTS free radicals, increased after fermentation. Furthermore, after fermentation treatment, the microstructure, basic physicochemical composition, amino acid composition, γ-aminobutyric acid, a variety of volatile components, and so on have changed. Therefore, fermentation treatment can significantly improve the nutritional value and flavor of the acaí. This provides a theoretical basis for the comprehensive utilization of acaí.

5.
Prev Med Rep ; 34: 102254, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37292426

ABSTRACT

Underrepresentation of pregnant populations in randomized controlled trials of lifestyle change interventions is concerning due to high attrition and providers' limited clinical time. The purpose of this evaluative study was to assess intervention uptake of pregnant individuals enrolled in a three-arm feasibility randomized controlled trial, electronic Monitoring Of Mom's Schedule (eMOMSTM), examining lifestyle changes and lactation support alone, and in combination. Measures included: (1) participation and completion rates, and characteristics of intervention completers versus other eligible participants; and (2) provider experiences with screening and enrolling pregnant participants. Pregnant people with a pre-pregnancy body mass index ≥ 25 and < 35 kg/m2 were enrolled into the eMOMSTM trial between September 2019 - December 2020. Of the 44 consented participants, 35 were randomized, at a participation rate of 35%, and 26 completed the intervention, resulting in a completion rate of 74%. Intervention completers were slightly older and entered the study earlier in pregnancy compared to non-completers. Completers were more likely to be first-time mothers, resided in urban areas, had higher educational attainment, and were slightly more racially and ethnically diverse. A majority of providers reported willingness to participate, believed the study aligned with their organization's mission, and were satisfied with using iPads for screening. Lessons learned to guide recruitment success include use of: (1) designated research staff in combination with physician support; and (2) user-friendly technology to help mitigate time burden on physicians and their staff. Future work should focus on successful strategies to recruit/retain pregnant populations in clinical trials.

6.
Plants (Basel) ; 12(9)2023 May 08.
Article in English | MEDLINE | ID: mdl-37176970

ABSTRACT

Coconut is an economically important palm species with a long history of human use. It has applications in various food, nutraceuticals, and cosmetic products, and there has been renewed interest in coconut in recent years due to its unique nutritional and medicinal properties. Unfortunately, the sustainable growth of the coconut industry has been hampered due to a shortage of good quality seedlings. Genetic improvement through the traditional breeding approach faced considerable obstacles due to its perennial nature, protracted juvenile period, and high heterozygosity. Molecular biotechnological tools, including molecular markers and next-generation sequencing (NGS), could expedite genetic improvement efforts in coconut. Researchers have employed various molecular markers to reveal genetic diversity among coconut populations and for the construction of a genetic map for exploitation in coconut breeding programs worldwide. Whole genome sequencing and transcriptomics on the different varieties have generated a massive amount of publicly accessible sequence data, substantially improving the ability to analyze and understand molecular mechanisms affecting crop performance. The production of high-yielding and disease-resilient coconuts and the deciphering of the complex coconut genome's structure can profit tremendously from these technologies. This paper aims to provide a comprehensive review of the progress of coconut research, using genomics, transcriptomics, and molecular markers initiatives.

7.
Chinese Journal of Nephrology ; (12): 101-111, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-994953

ABSTRACT

Objective:To analyze the risk factors for the occurrence of intradialytic hypotension (IDH) in elderly maintenance hemodialysis (MHD) patients based on longitudinal multidimensional data.Methods:This was a single-center, retrospective observational study. Data of MHD patients were retrospectively analyzed from April 3, 2017 to December 31, 2021 in the blood purification center of National Clinical Research Center for Kidney Diseases, General Hospital of Eastern Theater Command. IDH defined by the Kidney Disease Outcomes Quality Initiative was used as outcome indicator. Generalized estimating equations were used for univariate and multivariate regression analysis. The importance of each factor on the occurrence of IDH was evaluated by chi-square statistic minus degrees of freedom, and sensitivity analysis was performed by 5-fold interpolation of missing data.Results:A total of 156 elderly patients were enrolled, 91(58.3%) of whom were male, and 2 681 dialysis data recordings were included. The incidence of IDH from 2017 to 2021 fluctuated from 8.3% to 13.2%, with an average incidence of 11.0% by 2021. The results of multivariate regression showed pre-dialysis systolic pressure of 140-159 mmHg (1 mmHg=0.133 kPa, 90-139 mmHg as reference: OR=0.482, 95% CI 0.273-0.851, P=0.012), pre-dialysis diastolic pressure ≥ 90 mmHg (60-89 mmHg as reference, 90-99 mmHg: OR=4.081, 95% CI 2.132-7.809, P < 0.001; ≥ 100 mmHg: OR=8.547, 95% CI 3.233-22.597, P < 0.001), albumin (34-48 as reference, < 34 g/L: OR=2.677, 95% CI 1.592-4.502, P < 0.001; > 48 g/L: OR=2.692, 95% CI 1.102-6.577, P=0.030), C-reactive protein ≥ 8 mg/L (< 8 mg/L as reference: OR=1.787, 95% CI 1.216-2.628, P=0.003), hemodiafiltration as the dialysis mode (hemodialysis as the reference: OR=2.256, 95% CI 1.395-3.648, P=0.001), actual ultrafiltration volume/dry body mass (per 1% increase, OR=1.539, 95% CI 1.139-2.080, P=0.005), and ultrafiltration rate (per 100 ml/h increase, OR=1.641, 95% CI 1.389-1.939, P < 0.001) were independently associated with the occurrence of IDH. Contribution analysis showed that the top three factors related to IDH were ultrafiltration rate ( χ 2- df=32.798), pre-dialysis diastolic pressure ( χ 2- df=20.757) and albumin ( χ 2- df=19.971). The sensitivity analysis showed that the regression results were robust. Conclusions:The risk factors of IDH in elderly MHD patients are increasing ultrafiltration rate, higher pre-dialysis diastolic pressure(≥ 90 mmHg), lower albumin (< 34 g/L), HDF, higher c-reactive protein(≥ 8 mg/L) and increasing actual ultrafiltration volume/dry body mass. Higher pre-dialysis systolic pressure (140-159 mmHg) is a protective factor.

8.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-989767

ABSTRACT

After the compatibility of Astragali Radix and Atractylodis Macrocephalae Rhizoma, most of the effective components of Astragali Radix increase, and the bioavailability is improved. Compared with the application of the two drugs alone, it can enhance the effects of immune regulation, anti-tumor, diuresis, lung protection, regulation of flora, and intestinal protection. However, the optimal compatibility ratio of Astragali Radix- Atractylodis Macrocephalae Rhizoma pair to exert various pharmacological effects still needs to be clarified. The drug pair and related preparations are mostly used in the treatment of nephropathy, but its mechanism of action needs to be further elucidated.

9.
China Pharmacy ; (12): 1404-1408, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-974694

ABSTRACT

Diabetic retinopathy (DR) is a common complication of diabetes, which causes a great threat to the health of human vision. Recent studies have shown that saponins, polysaccharides and flavonoids in Astragali Radix regulate phosphoinositide 3-kinase/protein kinase B/mammalian target of rapamycin pathway, silent information regulator 1/nuclear factor erythroid 2-related factor 2 pathway, B-cell lymphoma-2 and other signaling pathways by acting on nuclear factor-κB, hypoxia-inducible factor-1α, glial fibrillary acidic protein, glutamine synthetase, aldose reductase, multiple miRNA and other related targets, so as to exert anti- inflammatory, anti-microangiopathy, anti-neurodegenerative disease and anti-apoptosis, and then achieve the purpose of treating DR.

10.
J Sci Food Agric ; 102(7): 2693-2703, 2022 May.
Article in English | MEDLINE | ID: mdl-34694006

ABSTRACT

BACKGROUND: Bioactive protein hydrolysates and peptides are believed to help counteract and ameliorate physical fatigue. Fermented soybean protein peptides (FSPPs) were prepared by protease hydrolysis and microbial fermentation. The present study aimed to evaluate the anti-fatigue properties of FSPPs. RESULTS: The forced swimming time in the FSPP group was 35.78% longer than the control group, the oxygen-resistant survival time of the FSPP group was significantly prolonged and the prolongation rate was 31.00%. In addition, FSPPs decreased the lactic acid (LD), blood urea nitrogen (BUN) and creatine kinase (CK) concentration by 27.47%, 25.93% and 21.70%, respectively, after treatment, while increasing the levels of liver glycogen and muscle glycogen by 93.35% and 67.31%, respectively. FSPPs can significantly increase gut microbiota diversity and regulate the species richness of gut microbiota. The results of real-time polymerase chain reaction (RT-PCR) and western blotting showed that FSPPs activate p-AMPK/PGC1-α and PI3K/Akt/mTOR signaling pathways. CONCLUSION: These results indicate that treatment with FSPPs induces anti-fatigue effects, which may be due to the mediating muscle protein synthesis and participation in skeletal muscle hypertrophy, providing energy for muscle cells. FSPPs may have potential applications in the food industry as functional material additives. © 2021 Society of Chemical Industry.


Subject(s)
Fermented Foods , Soybean Proteins , Animals , Blood Urea Nitrogen , Liver/metabolism , Mice , Muscle, Skeletal/metabolism , Peptides/metabolism , Peptides/pharmacology , Phosphatidylinositol 3-Kinases/metabolism , Soybean Proteins/metabolism , Swimming
11.
Biology (Basel) ; 10(9)2021 Sep 18.
Article in English | MEDLINE | ID: mdl-34571807

ABSTRACT

Global increase in demand for palm oil has caused an intensification in oil palm plantation; however, production is greatly hindered by Basal Stem Rot (BSR) disease caused by Ganoderma boninense. There are many approaches to controlling BSR, although, there is no accurate, sustainable and effective method to suppress G. boninense completely. Hence, four phenolic compounds [Gallic acid (GA), Thymol (THY), Propolis (PRO) and Carvacrol (CARV)] were selected to evaluate their antifungal effect, ability to alter the mycelium morphology, and fungal cell integrity against G. boninense. Significant differences (p < 0.05) were observed and 94% of inhibition was exerted by GA on G. boninense growth. Scanning Electron Microscopy and High-Resolution Transmission Electron Microscopy observations revealed that GA and THY treatment caused severe damage to the mycelium and recorded the highest amount of sugar and electrolyte leakage. The study of cell integrity and morphological disruption has elucidated the reduction of G. boninense cell viability. Generally, our findings confirm the fungistatic effects of GA and THY. The evolution of phenolic compounds during the phytopathology studies indicated their coherence in eradicating the G. boninense. It is proposed that GA and THY had the potential to be developed further as a natural antifungal treatment to suppress G. boninense.

12.
World J Pediatr ; 17(3): 253-262, 2021 06.
Article in English | MEDLINE | ID: mdl-33844176

ABSTRACT

BACKGROUND: Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is an emerging disease. The consequences of SARS-CoV-2 exposure in infants remain unknown. Therefore, this study aims to investigate whether neonates born to mothers with COVID-19 have adverse brain development. METHODS: This multicenter observational study was conducted at two designated maternal and children's hospitals in Hubei Province, mainland China from February 1, 2020 to May 15, 2020. Neonates born to mothers with COVID-19 were enrolled. Brain magnetic resonance imaging (MRI) findings, and volumes of grey and white matters, and physical growth parameters were observed at 44 weeks corrected gestational age. RESULTS: Of 72 neonates born to mothers with COVID-19, 8 (11%) were diagnosed with COVID-19, 8 (11%) were critically ill, and no deaths were reported. Among the eight neonates that underwent brain MRI at corrected gestational age of 44 weeks, five neonates were diagnosed with COVID-19. Among these five neonates, three presented abnormal MRI findings including abnormal signal in white matter and delayed myelination in newborn 2, delayed myelination and brain dysplasia in newborn 3, and abnormal signal in the bilateral periventricular in newborn 5. The other three neonates without COVID-19 presented no significantly changes of brain MRI findings and the volumes of grey matter and white matter compared to those of healthy newborns at the equivalent age (P > 0.05). Physical growth parameters for weight, length, and head circumference at gestational age of 44 weeks were all above the 3rd percentile for all neonates. CONCLUSIONS: Some of the neonates born to mothers with COVID-19 had abnormal brain MRI findings but these neonates did not appear to have poor physical growth. These findings may provide the information on the follow-up schedule on the neonates exposed to SARS-CoV-2, but further study is required to evaluate the association between the abnormal MRI findings and the exposure to SARS-CoV-2.


Subject(s)
Brain/abnormalities , Brain/diagnostic imaging , COVID-19/transmission , Infectious Disease Transmission, Vertical , Magnetic Resonance Imaging , COVID-19/epidemiology , China/epidemiology , Female , Humans , Infant, Newborn , Male , Pandemics , Pregnancy , SARS-CoV-2
13.
World J Pediatr ; 17(2): 171-179, 2021 04.
Article in English | MEDLINE | ID: mdl-33740237

ABSTRACT

BACKGROUND: We collected neonatal neurological, clinical, and imaging data to study the neurological manifestations and imaging characteristics of neonates with coronavirus disease 2019 (COVID-19). METHODS: This case-control study included newborns diagnosed with COVID-19 in Wuhan, China from January 2020 to July 2020. All included newborns had complete neurological evaluations and head magnetic resonance imaging. We normalized the extracted T2-weighted imaging data to a standard neonate template space, and segmented them into gray matter, white matter, and cerebrospinal fluid. The comparison of gray matter volume was conducted between the two groups. RESULTS: A total of five neonates with COVID-19 were included in this study. The median reflex scores were 2 points lower in the infected group than in the control group (P = 0.0094), and the median orientation and behavior scores were 2.5 points lower in the infected group than in the control group (P = 0.0008). There were also significant differences between the two groups in the total scale score (P = 0.0426). The caudate nucleus, parahippocampal gyrus, and thalamus had the strongest correlations with the Hammersmith neonatal neurologic examination (HNNE) score, and the absolute correlation coefficients between the gray matter volumes and each part of the HNNE score were all almost greater than 0.5. CONCLUSIONS: We first compared the neurological performance of neonates with and without COVID-19 by quantitative neuroimaging and neurological examination methods. Considering the limited numbers of patients, more studies focusing on the structural or functional aspects of the virus in the central nervous system in different age groups will be carried out in the future.


Subject(s)
COVID-19/diagnostic imaging , Magnetic Resonance Imaging , Neuroimaging/methods , Pneumonia, Viral/diagnostic imaging , Biomarkers/blood , COVID-19/epidemiology , Case-Control Studies , Child Development , China/epidemiology , Female , Humans , Infant, Newborn , Infectious Disease Transmission, Vertical , Male , Neurologic Examination , Pneumonia, Viral/epidemiology , Pneumonia, Viral/virology , SARS-CoV-2
14.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-905907

ABSTRACT

Objective:To investigate the biological essence of the content variation of differential primary and secondary metabolites in fresh<italic> </italic>roots of <italic>Scutellaria baicalensis </italic>under drought stress. Method:The changes of metabolites were analyzed by ultra-high-performance liquid chromatography coupled with electrospray ionization quadrupole time-of-flight mass/mass (UHPLC-ESI-Q-TOF-MS/MS). Result:A total of 11 differential compounds were identified from the roots of <italic>S. baicalensis</italic> (VIP≥2). Under drought stress, citric acid content increased and shikimic acid content decreased, indicating that the drought stress weakened the primary metabolism but strengthened secondary metabolism. Drought stress raised the content and regulated the proportion of various secondary metabolites by modulating the biosynthesis and biotransformation of them. To be specific, the content of free flavonoids with many phenolic hydroxyl groups and high biological activity and pharmacological activity, such as baicalin, wogonoside, baicalein, wogonin, chrysin, eriodictyol, 5,2',6'-trihydroxy-7,8-dimethoxyflavone, 5,8-dihydroxy-6,7-dimethoxyflavone, and 3,5,7,2',6'-pentahydroxyflavanone, was significantly increased. The massive compounds, like an intricate buffer, maintain metabolism stable as quickly and accurately as possible through biosynthesis and biotransformation, thus responding to the changing environment, which reveals how the quality of genuine regional drugs is influenced and why compounds in herbal medicine are complex. Conclusion:Secondary metabolites with low content but high activity are important influencing factors of medicinal material quality and metabolites with high content and high activity are evaluation indicators of genuine regional drug quality.

15.
Chinese Journal of Cardiology ; (12): 43-48, 2021.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-941232

ABSTRACT

Objective: The purpose of this study was to investigate the effects of CYP2C19 gene mutations on clopidogrel antiplatelet activity in the patients with coronary heart disease treated by percutaneous coronary intervention. Methods: Patients with coronary heart disease, who hospitalized in the Second Affiliated Hospital of Nanchang University from March 2011 to June 2019, and healthy individuals with matching genetic background, gender, and age as controls were included in this study. Basic clinical data were analyzed and blood samples of all research subjects were obtained for extraction of DNA, and Sanger first-generation sequencing method was used to detect CYP2C19 gene mutation from full exon and exon and intron junction. CYP2C19 gene variations in patients with coronary heart disease were compared with the 1000 Genomes Browse database and the sequencing results of healthy controls to determine whether the gene variation was a genetic mutation or a genetic polymorphism. After that, PolyPhen-2 prediction software was used to analyze the harmfulness of gene mutations to predict the effect of mutations on protein function. The same dose of CYP2C19 wild-type plasmid and the CYP2C19 gene mutant plasmids were transfected into human normal liver cells HL-7702. After transfection of 24 h, the expression of CYP2C19 protease in each group was detected. The liver S9 protein was incubated with clopidogrel, acted on platelets to detect the platelet aggregation rate and the activity of human vasodilator-activated phosphoprotein (VASP). Results: A total of 1 493 patients with coronary heart disease (59.36%) were enrolled, the average age was (64.5±10.4) years old, of which 1 129 were male (75.62%). Meanwhile, 1 022 healthy physical examination volunteers (40.64%) were enrolled, and the average age was (64.1±11.0) years old, of which 778 were male (76.13%). A total of 5 gene mutations of CYP2C19 gene were identified in 12 patients (0.80%), namely, 4 known mutations T130K (1 case), M136K (6 cases), N277K (3 cases), V472I (1 case) and one new mutation G27V (1 case), no corresponding gene mutation was found in healthy controls. It was found that T130K and M136K were probably damaging, G27V was possibly damaging, and N277K and V472I were benign mutations. In vitro, we demonstrated that the platelet aggregation rate of the M136K gene mutation group was 24.83% lower than that of the wild type (59.58% vs. 34.75%; P<0.05), and the phosphorylated VASP level was 23.0% higher than that of the wild type (1.0 vs. 1.23; P<0.05). However, the platelet aggregation rate and phosphorylated VASP level were similar between of G27V, T130K, N277K, V472I gene mutation groups and wild type group (P>0.05). Conclusions: In this study, 5 gene mutations are defined in patients with coronary heart disease, namely G27V, T130K, M136K, N277K, V472I. In vitro functional studies show that CYP2C19 gene mutation M136K, as a gain-of-function gene mutation, can enhance the activation of CYP2C19 enzyme on clopidogrel, thereby inhibiting the platelet aggregation rate.

16.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(7): 701-705, 2020 Jul.
Article in Chinese | MEDLINE | ID: mdl-32669164

ABSTRACT

OBJECTIVE: To study insulin sensitivity and the serum level of adiponectin in infants with intrauterine growth retardation (IUGR) and the effect of breastfeeding on the insulin sensitivity through a follow-up study. METHODS: A total of 106 full-term IUGR infants who were hospitalized from October 2014 to October 2018 were enrolled as the IUGR group, and 90 full-term appropriate for gestational age (AGA) infants who were born during the same period of time were enrolled as the AGA group. Birth weight and body length were recorded. Serum levels of fasting blood glucose (FBG), triglyceride (TG), low-density lipoprotein (LDL), high-density lipoprotein (HDL), insulin, and adiponectin were measured on day 7 after birth. Homeostasis model assessment of insulin resistance (HOMA-IR) was calculated. According to the feeding pattern, the IUGR group was further divided into a breastfeeding group with 37 infants and a formula feeding group with 42 infants. The above serum indices and growth indices were also measured at the age of 3 and 6 months. RESULTS: Compared with the AGA group, the IUGR group had significantly increased levels in serum insulin and HOMA-IR and a significantly decreased level of adiponectin (P<0.05). There were no significant differences between the breastfeeding and formula feeding groups in growth indices and serum levels of FBG, TG, LDL, and HDL on day 7 after birth and at the ages of 3 and 6 months (P>0.05). In the breastfeeding group, serum insulin and HOMA-IR decreased and adiponectin level increased over the time of breastfeeding (P<0.05). CONCLUSIONS: Insulin sensitivity decreases in the early stage after birth in IUGR infants, and breastfeeding can improve insulin sensitivity.


Subject(s)
Insulin Resistance , Adiponectin , Fetal Growth Retardation , Follow-Up Studies , Humans , Infant , Infant, Newborn , Insulin
17.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(3): 211-214, 2020 Mar.
Article in Chinese | MEDLINE | ID: mdl-32204755

ABSTRACT

Since December 2019, the outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has occurred in Wuhan, Hubei Province, China. The infected cases were noted mostly in adults, but rarely reported in children, especially neonates. Most children with SARS-CoV-2 infection present mainly with respiratory symptoms, but less commonly with gastrointestinal symptoms, and tend to have mild clinical symptoms. A neonate with SARS-CoV-2 infection, who had vomiting and milk refusal as the first symptom, was recently admitted to Wuhan Children's Hospital. After two weeks of treatment, the patient recovered gradually and was discharged. Here, this case is reported to improve the understanding of SARS-CoV-2 infection in neonates.


Subject(s)
Coronavirus Infections , Pneumonia, Viral , Betacoronavirus , COVID-19 , China , Humans , Infant, Newborn , SARS-CoV-2
18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-861025

ABSTRACT

Objective: To explore the value of unenhanced MR lymphography (MRL) and CT after direct lymphangiography (DLG) in diagnosis of lympho-urinary fistula location and thoracic duct abnormalities in patients with chyluria. Methods: Data of 24 patients with chyluria were reviewed. The position of lympho-urinary fistula and signs related to obstruction of thoracic duct (TD) were analyzed. Dilated renal lymphatics and other retroperitoneal lymphatics, dilatation of TD, multiple tortuous dilated lymphatics around TD were evaluated with MRL, while contrast media reflux of renal lymphatic and urinary system, lymphatics in the outlet area of iliac trunk and thoracic duct were observed with CT after DLG. Results: MRL depicted lympho-urinary fistula in 19 cases (79.17%), including 2 cases in bilateral kidneys, 6 in left and 10 in right kidney, and 1 case in bladder. CT after DLG showed the level of lympho-urinary fistula, including 6 cases in bilateral kidneys, 7 in left and 10 in right kidney, also 1 case in bladder. The consistency between MRL and DLG plus CT was moderate (Kappa=0.601, P<0.001). There was significant difference of unilateral renal level lympho-urinary fistula between MRL and CT after DLG (χ2=22.463, P<0.001),the sensitivity and specificity of MRL was 68.97% and 100%, respectively. No contrast medium distribution at cervical section of TD was found neither with DLG nor CT after DLG, but was observed in one of them with MRL. MRL detected unilateral double renal pelvis and ureter in 2 cases misdiagnosed with CT after DLG. Conclusion: MRL can be used as a noninvasive preliminary examination for lympho-urinary fistula in patients with chyluria, combining with CT after DLG can provide comprehensive assessment of TD and lympho-urinary fistula.

19.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-828681

ABSTRACT

OBJECTIVE@#To study insulin sensitivity and the serum level of adiponectin in infants with intrauterine growth retardation (IUGR) and the effect of breastfeeding on the insulin sensitivity through a follow-up study.@*METHODS@#A total of 106 full-term IUGR infants who were hospitalized from October 2014 to October 2018 were enrolled as the IUGR group, and 90 full-term appropriate for gestational age (AGA) infants who were born during the same period of time were enrolled as the AGA group. Birth weight and body length were recorded. Serum levels of fasting blood glucose (FBG), triglyceride (TG), low-density lipoprotein (LDL), high-density lipoprotein (HDL), insulin, and adiponectin were measured on day 7 after birth. Homeostasis model assessment of insulin resistance (HOMA-IR) was calculated. According to the feeding pattern, the IUGR group was further divided into a breastfeeding group with 37 infants and a formula feeding group with 42 infants. The above serum indices and growth indices were also measured at the age of 3 and 6 months.@*RESULTS@#Compared with the AGA group, the IUGR group had significantly increased levels in serum insulin and HOMA-IR and a significantly decreased level of adiponectin (P0.05). In the breastfeeding group, serum insulin and HOMA-IR decreased and adiponectin level increased over the time of breastfeeding (P<0.05).@*CONCLUSIONS@#Insulin sensitivity decreases in the early stage after birth in IUGR infants, and breastfeeding can improve insulin sensitivity.


Subject(s)
Humans , Infant , Infant, Newborn , Adiponectin , Fetal Growth Retardation , Follow-Up Studies , Insulin , Insulin Resistance
20.
Zhongguo Dang Dai Er Ke Za Zhi ; 20(8): 618-622, 2018 Aug.
Article in Chinese | MEDLINE | ID: mdl-30111469

ABSTRACT

OBJECTIVE: To explore the effect of intrauterine growth retardation (IUGR) on insulin sensitivity in neonates and the relationship between insulin sensitivity and plasma adiponectin level. METHODS: Eighty-two term neonates with IUGR and 90 term neonates born appropriate for gestational age (AGA) were enrolled. Weight, height, head circumference and abdomen circumference of the neonates were measured within 24 hours after birth. Fasting serum glucose (FG), triglyceride (TG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), plasma insulin and adiponectin were detected in two groups on the 7th day after birth. Homeostasis model assessment for insulin resistance (HOMA-IR) index and insulin sensitivity index (ISI) were calculated. RESULTS: There were no significant differences in the levels of FG, TG, HDL and LDL between the IUGR and AGA groups (P>0.05). The plasma insulin level in the IUGR group was higher than that in the AGA group, but the plasma adiponectin level was lower than that in the AGA group (P<0.05). HOMA-IR index in the IUGR group was higher than that in the AGA group, but ISI was lower than that in the AGA group (P<0.05). Both Pearson correlation analysis and multiple linear regression analysis showed HOMA-IR index was negatively correlated with plasma adiponectin level and birth weight (P<0.05). CONCLUSIONS: The neonates with IUGR display a higher plasma insulin level and decreased insulin sensitivity. The decreased plasma adiponectin level may be associated with the decreased insulin sensitivity.


Subject(s)
Adiponectin/blood , Fetal Growth Retardation/blood , Insulin/blood , Blood Glucose/metabolism , Female , Fetal Growth Retardation/physiopathology , Gestational Age , Humans , Infant , Male , Triglycerides/blood
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