【Objective】 To analyze the association between the composition of gut microbiota and blood pressure in children aged 6 - 9 years, in order to provide new ideas for childhood hypertension prevention and treatment. 【Methods】 A total of 411 children aged 6 - 9 years were recruited in Guangzhou from December 2015 to March 2017. The gut microbiota was characterized by 16S ribosomal RNA amplicon sequencing. The multivariate methods with unbiased variable selection in R (MUVR) were performed to identify the significant OTUs. Spearman correlation as well as multiple linear regression were used to explore the relationship between gut microbiota and blood pressure in children. 【Results】 Significant difference in β diversity index was observed between children with normal blood pressure and those with abnormal blood pressure (R²weighted=0.015,Pweighted=0.01; R²unweighted=0.027, Punweighted=0.001). After adjustment for covariates and controlling the false discovery rate (FDR), multiple linear regression analysis showed that blood pressure level in children decreased with the increasing abundance of OTU_3 (genus Blautia), OTU_131 (genus [Clostridium]_innocuum_group), OTU_1776 (genus Blautia), OTU_2159 (genus Prevotella) and OTU_91 (species Bifidobacterium_breve) (β:-0.18 --0.14; PFDR<0.05. In contrast, blood pressure in children increased with the increasing abundance of OTU_108(genus Sutterella), OTU_1(species Faecalibacterium_prausnitzii)、OTU_8(genus Roseburia), OTU_48 (genus Lachnoclostridium), OTU_81 (genus Coprococcus), OTU_401 (family Lachnospiraceae), OTU_1284 (family Lachnospiraceae) and OTU_2793 (family Lachnospiraceae)(β: 0.14 - 0.21; PFDR<0.05. The influence of gut microbiota on systolic pressure and diastolic pressure may be mediated by the increase of body mass index (BMI). 【Conclusions】 Pediatric blood pressure level is associated with the composition of gut microbiota, while BMI partially plays a mediating role in the relationship. It is recommended to modulate the abundance of microbiota as genus Blautia, Sutterella and so on to prevent hypertension in children.

Objective: To evaluate the effect of inactivated SARS-CoV-2 vaccine on the clinical outcomes of patients infected with the Omicron variant. Methods: A total of 1 403 Omicron-infected patients admitted to 20 designated hospitals in Guangdong Province from January 1 to May 31, 2022, were selected as subjects in this study. A case-control study was conducted to collect the demographic data, underlying disease, vaccination status, last exposure date, gene sequencing of infected strains and clinical outcomes from the China Disease Prevention and Control Information System and Guangdong telemedicine platform. Pneumonia (common, severe and critical) and non-pneumonia (asymptomatic and mild) were selected as the case group and control group. The effect of inactivated SARS-CoV-2 vaccine on the clinical outcomes of patients infected with the Omicron variant was analyzed. Results: The median age [M (Q₁, Q₃)] of the subjects was 36 (27-47) years old, with males accounting for 52.25% (733 cases). The main outcome of the infection was non-pneumonia, accounting for 92.09% (1 292 cases), and the duration [M (Q₁, Q₃)] of the disease was 18 (14-22) days. There were 134 (9.55%), 39 (2.78%), 403 (28.72%), 437 (31.15%) and 390 (27.80%) cases with no or partial vaccination, within 90 days of primary vaccination, over 90 days of primary vaccination, within 90 days of booster vaccination and over 90 days of booster vaccination, respectively. Multivariate logistic regression analysis showed that after adjusting for gender, age, underlying disease, and location of the report, compared with those with no or partial vaccination, the risk of developing pneumonia was lower in those with over 90 days of primary vaccination, within 90 days of booster vaccination and over 90 days of booster vaccination [OR (95%CI) values were 0.52 (0.28-0.98), 0.39 (0.21-0.73) and 0.40 (0.21-0.77), respectively]. Cox proportional hazard regression model analysis showed that after adjusting for gender, age, underlying disease and location of the report, the duration of the disease was shorter in those who received booster vaccinated for more than 90 days compared with that in those who had no or partial vaccination [HR (95%CI): 1.26 (1.03-1.55)]. Conclusion: The inactivated SARS-CoV-2 vaccine affects the clinical outcomes of patients infected with the Omicron variant.
Adult ; Humans ; Male ; Middle Aged ; Case-Control Studies ; China/epidemiology* ; COVID-19/prevention & control* ; COVID-19 Vaccines ; SARS-CoV-2 ; Female

OBJECTIVE: To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS). METHODS: A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members. RESULTS: The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing. CONCLUSION The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
DNA Copy Number Variations ; Heterozygote ; Pedigree ; Phenotype ; RNA Splicing ; Mutation

OBJECTIVE To optimize the preparation technology of the volatile oil microcapsules of Cinnamomi Ramulus and Angelicae Sinensis Radix, characterize the microcapsules prepared after the formulation optimization and study pharmacokinetics characteristics in rats. METHODS Spray drying was used to prepare the volatile oil microcapsules of Cinnamomi Ramulus and Angelicae Sinensis Radix. The preparation process was optimized by Box-Behnken response surface method with the drug loading and encapsulation efficiency as indexes. The microcapsules were characterized by Fourier transform infrared spectroscopy(FT-IR) and scanning electron microscopy(SEM). Blood samples were collected after gastric administration at a dose of 100 mg·kg-1. HPLC method was adopted in the plasma concentration determination, and pharmacokinetics behavior in vivo was also compared. RESULTS The optimal formulation: core material-capsules material ratio was 1∶1.7, capsules material concentration was 10.25%, sodium starch octenyl succinate∶maltodextrin was 3.8∶1, high pressure homogenization pressure was 20 MPa and the inlet temperature of spray drying was 185 ℃. Under the optimized conditions, the drug loading was (18.94±1.09)% and the encapsulation rate was (96.03±2.91)%, respectively. The results of FT-IR and SEM showed that the essential oils had been successfully coated in the capsule wall material. The microcapsules were basically spherical in shape, with concave surface but no obvious cracks. The main pharmacokinetic parameters such as tmax, t1/2, CL, AUC0-t, k10,k12, and k21 of microcapsules had significant difference of the volatile oil(P<0.05 or P<0.01). Microcapsules effectively prolonged the circulation time of volatile oil in the body, promoted the absorption of drugs in the body and the oral bioavailability was enhanced to 2.62 times. CONCLUSION The model established by the Box-Behnken design-response surface method can be used to optimize the formulation of volatile oil microcapsules of Cinnamomi Ramulus and Angelicae Sinensis Radix with great prediction effect. The microcapsules prepared by the optimized process has good drug loading properties and the bioavailability of volatile oil is increased.

The septate uterus is the most common structural uterine anomalies and it is associated with the poor reproductive outcome. It is believed to be the result of the failure in resorption of the tissue connecting the 2 paramesonephric ducts prior to the 20th embryonic week. The true prevalence of uterine septum is difficult to ascertain, as many uterine septal defects are asymptomatic. The septate uterus is usually diagnosed during an infertility evaluation and affects reproductive health by impairing fertility and increasing adverse pregnancy outcomes. The variations in uterine and cervical/vaginal anomalies collectively referred to as Müllerian anomalies. No consistent gold standard for the diagnosis of Müllerian anomalies exists. The preferred diagnostic method for Müllerian anomalies is two-dimensional ultrasound, other methods such as three-dimensional ultrasound, magnetic resonance imaging, hysterosalpingo contrast sonography, hysterosalpingography, hysteroscopy, and laparoscopy are also used to improve accuracy.
Female ; Humans ; Septate Uterus

OBJECTIVES: The incidence of infertility is increasing, more than 30% of them having related abnormal tubal patency. Four-dimensional (4D) hysterosalpingo-contrast sonography (HyCoSy) overcomes the shortcomings of 3D HyCoSy in the diagnosis of tubal patency, showing high specificity and accuracy. In addition, 4D HyCoSy discards iodine allergy and X-ray radiation and possesses easy-operating, contributing to good acceptance in clinical practice. However, there is no research to explore the imaging standards related to the possibility of natural pregnancy after 4D HyCoSy. If a predictive model of postoperative natural pregnancy was established using the analysis of clinical data combined with imaging characteristics of 4D HyCoSy of patients with tubal factor infertility, clinical decision-making can be wisely guided in the future. This study aims to establish a predictive model of natural pregnancy after 4D HyCoSy based on clinical data and imaging characteristics of patients with tubal factor in fertility. METHODS: A retrospective study was conducted for patients who were diagnosed with tubal factor infertility in Hunan Guangxiu Hospital from February 2017 to May 2018. The patients ought to possess complete 4D HyCoSy imaging data and at least one-side-unobstructed fallopian tube. General clinical data and imaging data were collected. Pregnancy outcome was followed up till 3 months after 4D HyCoSy. According to pregnancy outcome, patients were divided into a pregnancy group and a non-pregnancy group. Binary logistic regression was used to analyze the correlation between various variables and natural pregnancy after 4D HyCoSy. The variables with significant difference (P<0.05) in single-factor logistic regression were included in the natural pregnancy probability prediction model. The classification accuracy was further verified with 10-fold cross-validation. RESULTS: A total of 1 085 patients with clinically suspected tubal factor infertility who met the requirements and followed the doctors' prescription were collected. Clinical characteristics (age and duration of infertility) and 4D HyCoSy imaging characteristics (thickness of endometrium from the 3rd to the 7th day after the end of menstruation, visualization of the left fallopian tube, the diffusion of contrast agent around the left ovary, and the diffusion of contrast agent around the right ovary) were independent predictors for natural pregnancy 3 months after 4D HyCoSy. A natural pregnancy probability prediction model was established with the area under the curve (AUC) verified by the 10-fold cross-validation all greater than 0.75, and the best AUC was 0.868. The Q value obtained by the prediction model was the probability of natural pregnancy, and the cutoff value was 0.5. When the Q value was greater than 0.5, it was recommended to attempt natural pregnancy for 3 months, and when the Q value was less than 0.5, in vitro fertilization was adviced. CONCLUSIONS A predictive model for the evaluating probability of natural pregnancy in women with tubal factor infertility after 4D HyCoSy is successfully established based on the analysis for clinical data and imaging characteristics. This model shows a great potential in assisting clinical decision making.
Humans ; Female ; Pregnancy ; Contrast Media ; Retrospective Studies

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing. METHODS: Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing. RESULTS: Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis. CONCLUSION Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Child ; China ; DNA Copy Number Variations ; Electron Transport ; Humans ; Mutation ; NADH Dehydrogenase/genetics* ; Pedigree

Objective:To investigate the incidence, risk factors and early prognosis of acute kidney injury (AKI) after heart valve surgery in adults, and to provide evidence for the early prevention and treatment of AKI after heart valve surgery.Methods:Clinical data of patients undergoing heart valve surgery from January 2016 to March 2017 were collected retrospectively. Early postoperative AKI was diagnosed and staged according to Kidney Disease Improving Global Outcomes (KDIGO) clinical guidelines for AKI. Patients were divided into AKI group and non-AKI group according to whether AKI occurred within 48 hours after surgery, and the differences in clinical indexes between the two groups were compared and analyzed. Influencing factors for early postoperative AKI were screened by stepwise multivariate logistic regression.Results:A total of 600 patients were enrolled, including 197 patients in the AKI group and 403 patients in the non-AKI group. The incidence of AKI was 32.83%. In the non-AKI and AKI groups, proportion of renal replacement therapy (RRT) during hospitalization, mechanical ventilation time, intensive care unit (ICU) time and proportion of hospital mortality were different (all P<0.001). In the AKI group, 160 patients (81.22%) were in stage I, 33 patients (16.75%) were in stage Ⅱ, and 4 patients (2.03%) were in stage Ⅲ. The proportion of patients receiving RRT, mechanical ventilation time, ICU time, hospital mortality were also different in patients with AKI of different stages (all P<0.05). Logistic regression analysis results showed that males, body mass index≥24.0 kg/m 2, previous history of cardiac surgery, baseline serum creatinine >115 mmol/L, albumin<35 g/L, aortic occlusion time (AOT)>90 min, blood glucose in ICU after operation>11.1 mmol/L, the difference between the highest blood glucose within 48 hours after the operation and the blood glucose at 0 h after the operation≥2 mmol/L, blood lactic acid in ICU after operation>4 mmol/L and maximum vasoactive drug score within 48 hours after surgery>9 were independent influencing factors for early AKI (all P<0.05). Conclusions:The incidence of AKI within 48 hours after heart valve surgery is over 30%. The independent influencing factors include male, overweight/obesity, previous cardiac surgery, preoperative renal insufficiency, hypoproteinemia, long duration of AOT, post-operative stress hyperglycemia, fluctuating blood glucose levels wildly, hyperlactacidemia, and using more vasoactive drugs. AKI after cardiac surgery affects the early prognosis of patients, the later of the stage leads to the worse prognosis.

Cushing's syndrome is a clinically common type of clinical syndrome caused by excessive glucocorticoids. It can be divided into adrenocorticotropic-dependent and independent types according to its etiology. A female patient with Cushing's syndrome is reported to have a clinical manifestation of mild full moon face, masculinization of androgen increase, deeper skin color, elevated blood pressure, and pulmonary infection. The cause is unknown. Radiographic examination indicated that pituitary tumor and adrenal tumors did not exist. Chest enhancement CT examination revealed that the lesion was in the thymus. Thoracoscopy was performed to remove the tumor. Since wound infection occurred after operation, a variety of antibiotics were used for anti-infective treatment, and the wound gradually healed. After 21 months of follow-up, the above symptoms disappeared completely and the prognosis was good in the near future. Postoperative pathological diagnosis was thymic neuroendocrine carcinoma. This is a typical case that the thymoma ectopically secrets adrenocorticotropic hormone, which leads to Cushing's syndrome, referring to ectopic adrenocorticotropic hormone syndrome.
ACTH Syndrome, Ectopic ; Adrenocorticotropic Hormone ; Cushing Syndrome ; Female ; Humans ; Thymoma ; Thymus Neoplasms

Objective: To explore the association between single nucleotide polymorphism rs12632942 in SCN10A exon and oxaliplatin-induced peripheral neuropathy (OXLIPN) in colorectal cancer (CRC) patients receiving chemotherapy. Methods:Atotal of 319 cases of blood samples from CRC patients receiving chemotherapy regimen with Oxaliplatin (OXL) were collected from the Second Affiliated Hospital of Guangzhou Medical University, the Second Affiliated Hospital of Nanchang University, and Guangzhou Baiyun District Hospital of Chinese Medicine during January 2011 and June 2013. DNAwas routinely extracted, and PCR amplification was performed to analyze the genotype of rs12632942; and OXLIPN of patients was also evaluated. The association between rs12632942 genotype and OXLIPN was analyzed by χ2 test and multivariate logistic regression model. Results: The genotypes of rs12632942 of 319 CRC patients:AAof 134 cases,AG of 156 cases and GG of 29 cases; and the genotype distribution of rs12632942 was in accordance with Hardy-Weinberg equiliberum (P>0.05). χ2 test showed that rs12632942AG+GG genotype was associated with Ⅱ-Ⅳ degree OXLIPN (P<0.01). Multivariate logistic regression model showed that rs12632942 AG + GG genotype was an independent risk factor for Ⅱ-Ⅳ degree OXLIPN（OR=2.044； 95%CI=1.231-3.392; P<0.01） . Conclusion: Colorectal cancer patients with SCN10A exon polymorphism rs12632942AG + GG genotype were susceptible to Ⅱ-Ⅳ degree OXLIPN.