[Analysis of genetic variant in a child with Pitt-Hopkins syndrome].

OBJECTIVE: To explore the genetic basis for a child featuring facial dysmorphism, single palmar crease, motor and language delay, and hypoplasia of corpus callosum. METHODS: A child who had visited the Affiliated Hospital of Binzhou Medical College on March 16, 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected, and the genomic DNA was extracted for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: WES revealed that the child has harbored a heterozygous c.607delT (p.S203Pfs*31) variant in exon 9 of the TCF4 gene, for which both of his parents were of the wild-type. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6). CONCLUSION: The heterozygous c.607delT (p.S203Pfs*31) variant of the TCF4 gene probably underlay the Pitt-Hopkins syndrome in this child. Genetic testing has enabled the definite diagnosis.

Factors affecting blood lipid control among residents at a high risk of atherosclerotic cardiovascular disease / 预防医学

Objective@#To investigate the proportion of achieving the blood lipid control target and its influencing factors among residents at a high risk of atherosclerotic cardiovascular disease (ASCVD), so as to provide insights into management of blood lipid among residents at a high risk of ASCVD.@*Methods@#Residents at a high risk of ASCVD and at ages of 35 to 70 years were sampled using a multi-stage cluster sampling method from 6 counties (districts) in Shaoxing City from May to July 2021. The residents' demographics, smoking, alcohol consumption and medical history of chronic diseases were collected using questionnaires, the height, weight, waist circumference (WC) and blood pressure were measured, and the total cholesterol (TC), triacylglycerol (TG), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and fasting blood glucose were detected. The proportion of blood lipids achieving the control target was analyzed, and factors affecting the proportion of blood lipids achieving the control target were identified using a multivariable logistic regression model.@*Results@#A total of 1 695 individuals at a high risk of ASCVD were enrolled, including 940 men (55.46%) and 755 women (44.54%), with a mean age of (62.56±6.08) years. There were 285 participants that achieved the target of blood lipid control (16.81%). Multivariable logistic regression analysis identified gender (male, OR=1.962, 95%CI: 1.396-2.758), age (OR=1.037, 95%CI: 1.013-1.061), WC (OR=0.979, 95%CI: 0.964-0.995), diastolic blood pressure (OR=0.981, 95%CI: 0.967-0.994), smoking (OR=1.485, 95%CI: 1.034-2.133), alcohol consumption (OR=0.684, 95%CI: 0.498-0.941), hypertension (OR=1.428, 95%CI: 1.006-2.207), administration of hypoglycemic drugs (OR=2.326, 95%CI: 1.720-3.144) as factors affecting the achievement of the target for blood lipid control among residents at a high risk of ASCVD. @*Conclusions @#Individuals at a high risk of ASCVD with higher WC, higher diastolic blood pressure and alcohol consumption are less likely to achieve the target for blood lipid control, while male individuals with older age, hypertension and administration of hypogcemic drugs are more likely to achieve the target for blood lipid control.

Intestinal-type adenocarcinoma presenting as a female periurethral mass.

BACKGROUND: The periurethral mass in the female is a rare clinical entity and most of the lesions are benign. We present an unusual case of a periurethral mass found to be intestinal-type adenocarcinoma which has not been previously reported in the literature. CASE PRESENTATION: A 58-year-old woman was referred to our hospital with acute urinary retention. She complained of frequency, urgency and progressive obstructive urinary symptoms for the last 3 months. A pelvic magnetic resonance imaging scan showed a soft tissue mass of 5 × 4 cm surrounding the entire urethra. A needle biopsy was done and revealed adenocarcinoma with intestinal-type features. The tumor was removed by a simultaneous laparoscopic abdominal and transperineal approach. The pathological results showed a positive surgical margin and urethra and vagina wall invasion. The neoplastic cells were positive for CK20, CDX-2, CerbB-2, MSH2, MSH6, MLH1, PMS2 and P53. The patient received adjuvant systemic chemotherapy comprising S-1 and oxaliplatin. Follow-up with pelvic MRI 6 months after surgery showed no signs of local recurrence. CONCLUSIONS: We have reported the first case of the primary periurethral adenocarcinoma of intestinal type. There are currently no standardized protocols for the diagnosis, clinical course, and treatment of this rare tumor. This case study can aid decision-making regarding the diagnosis and treatment of this tumor.

MiRNA-29a serves as a promising diagnostic biomarker in children with temporal lobe epilepsy and regulates seizure-induced cell death and inflammation in hippocampal neurons.

Temporal lobe epilepsy (TLE) in children is one of the most common refractory epilepsies. MicroRNAs (miRNAs) show abnormal expression in neurological disorders. The objective of this study was to determine changes in expression and the role of miR-29a in children with TLE. Sixty-five TLE patients and 70 normal controls were recruited. The levels of miR-29a were quantified using qRT-PCR. An in vitro TLE cell model was established using primary hippocampal cells cultured in magnesium-free medium. Cell viability, cell apoptosis and inflammatory cytokine concentrations were evaluated. The luciferase reporter assay was applied to confirm the target gene, HMGB1. A low level of MiR-29a expression was observed in the serum of children with TLE, which demonstrated a negative association with the concentration of serum TNF-α, IL-6, and IFN-γ. The level of MiR-29a demonstrated high specificity and sensitivity in children with TLE. A low level of expression of miR-29a was also detected in the TLE cell model. MiR-29a over-expression reversed the decreased cell viability induced by TLE, and alleviated cell apoptosis. Release of TNF-α, IL-6, and IFN-γ induced by TLE was also inhibited by miR-29a over-expression. HMGB1, which was downregulated in the serum of TLE patients, was shown to be a target gene of miR-29a, and negatively correlated with miR-29a level. The downregulation of serum miR-29a may serve as a non-invasive diagnostic biomarker for children with TLE. MiR-29a may be involved in the pathogenesis of TLE through regulation of neuronal apoptosis and neuroinflammation via targeting HMGB1.

Effect of cefoperazone sulbactam sodium combined with meropenem on the immune function in the treatment of neonatal pneumonia caused by multidrug-resistant bacteria.

OBJECTIVE: To explore the effect of cefoperazone sulbactam sodium combined with meropenem on the immune function in the treatment of neonatal multi-drug resistant pneumonia. METHODS: Altogether 130 children with pneumonia caused by multi-drug resistant bacteria admitted to our hospital from January 2016 to January 2019 were recruited as the study cohort. The children were randomly divided into a combined group (n=80, combined therapy) and a control group (n=50, cefoperazone sulbactam sodium therapy). Their clinical indexes and their pulmonary function indexes, their serum heparin-binding protein (HBP) 1,25-dihydroxy vitamin D3 [1,25-(OH)2D3] levels, and their inflammatory factors and immune indexes were observed. The bacterial eradication rates, total effective rates, and adverse reaction rates of the two groups were investigated. RESULTS: Compared with the control group, the cough disappearance times, the antipyretic times, the pulmonary rales disappearance times, and the hospital stay lengths in the combination group were shorter, the FEV1% Pred (the percentage of forced expiratory volume in one second compared to the predicted value) and the FEV1/Fvc% (the percentage of forced expiratory volume in one second compared to the forced vital capacity) were higher, the HBP levels and the inflammatory factor CRP and IL-6 levels were lower, the 1,25-(OH)2D3, and the immune index gA, IgG, and C4 levels were higher, and the bacterial eradication rates and the total effective rates were higher, and the incidence of adverse reactions was lower. CONCLUSION: Cefoperazone sulbactam sodium combined with meropenem can improve the immune function of newborn children with multi-drug resistant pneumonia.

The complete plastid genome of cherry plants Prunus discoidea (Rosaceae) and its phylogenetic implication.

Prunus discoidea is an endemic cherry species with ornamental value, spread in eastern China (Anhui, Jiangxi, Zhejiang provinces). Little information is available regarding its genomic, with limited phylogenetic relationship study performed on P. discoidea until now. The plastid genome was 158,024 bp in length consisting of four regions: large single-copy region (85,953 bp), small single-copy region (19,113 bp), and a pair of inverted repeat regions (26,469 bp each). The plastid genome contained a total of 129 genes, including 84 coding genes, 8 rRNA genes, and 37 tRNA genes. Phylogenetic analysis for 20 reported genomes within the Prunus sensu lato showed three main clades of Prunus s.l. with strong supports.

Choroid Neovascularization Growth Prediction With Treatment Based on Reaction-Diffusion Model in 3-D OCT Images.

Choroid neovascularization (CNV) is caused by new blood vessels growing in the choroid and penetrating the bruch membrane. It is the major cause of vision disability in many retinal diseases. Though anti-vascular endothelial growth factor injection has proved to be effective for treating CNV, treatment planning is essential to ensure the efficacy while reducing the risk. For this purpose, we propose a CNV growth model based on longitudinal optical coherence tomography (OCT) images. The reaction-diffusion model is applied to simulate the growth and shrinkage of CNV volumes, and is solved by using the finite-element method. A fitted curve of the CNV growth/shrinkage rate is obtained by optimizing the growth parameters. Then, the trained parameters are applied to the predicted image to get the simulated image, which is compared with the validated image to evaluate the accuracy of prediction. The proposed method was tested on a dataset with seven patients in which each patient has 12 longitudinal OCT images. The resulted mean dice coefficient is 76.40% ± 8.20%. The experimental results show a promising step towards the image-guided patient-specific treatment.

Automatic detection of microaneurysms in retinal fundus images.

Diabetic retinopathy (DR) is one of the leading causes of new cases of blindness. Early and accurate detection of microaneurysms (MAs) is important for diagnosis and grading of diabetic retinopathy. In this paper, a new method for the automatic detection of MAs in eye fundus images is proposed. The proposed method consists of four main steps: preprocessing, candidate extraction, feature extraction and classification. A total of 27 characteristic features which contain local features and profile features are extracted for KNN classifier to distinguish true MAs from spurious candidates. The proposed method has been evaluated on two public database: ROC and e-optha. The experimental result demonstrates the efficiency and effectiveness of the proposed method, and it has the potential to be used to diagnose DR clinically.

[Changes in peripheral blood T helper 9 cells and interleukin-9 in children in the acute stage of Kawasaki disease].

OBJECTIVE: To investigate the changes in the expression levels of peripheral blood T helper 9 (Th9) cells and cytokine interleukin-9 (IL-9) in children in the acute stage of Kawasaki disease (KD) and their clinical significance. METHODS: A total of 45 children in the acute stage of KD who were treated from April 2014 to July 2015 were enrolled, and the children were followed up in the recovery stage. Another 45 healthy children who underwent physical examination were enrolled as the control group. Flow cytometry was used to measure the percentage of peripheral blood Th9 cells, and ELISA was used to measure the serum level of IL-9. RESULTS: The children in the acute stage of KD showed a significantly higher percentage of Th9 cells and a significantly higher serum level of IL-9 compared with those in the recovery stage and the control group (P<0.05). The percentage of Th9 cells and serum level of IL-9 showed no significant differences between the children in the recovery stage and those in the control group (P>0.05). In the acute stage, the percentage of Th9 cells was positively correlated with the levels of IL-9, C-reactive protein (CRP), procalcitonin (PCT), erythrocyte sedimentation rate (ESR), platelet count (PLT), and globulin (r=0.624, 0.324, 0.402, 0.382, 0.467, and 0.386 respectively, all P<0.05), but negatively correlated with serum albumin (r=-0.306, P<0.05). The serum level of IL-9 was positively correlated with the levels of CRP, PCT, ESR, PLT, and globulin (r=0.365, 0.456, 0.403, 0.423, and 0.453 respectively, all P<0.05), but negatively correlated with serum albumin (r=-0.343, P<0.05). CONCLUSIONS: The children in the acute stage of KD show significant increases in the percentage of peripheral Th9 cells and serum cytokine IL-9 level, which return to normal in the recovery stage. In the acute stage of KD, the expression levels of Th9 and IL-9 are closely correlated with laboratory markers. The results suggest that Th9 cells and IL-9 play important roles in the pathogenesis and outcome of KD.

[Expression of CD117 in human testicular germ cell tumors and its diagnostic value for seminoma and nonseminoma].

OBJECTIVE: To evaluate the expression of CD117 in human testicular germ cell tumors and its value in the differential diagnosis of seminoma and nonseminoma. METHODS: Seventy-four human testicular germ cell tumor specimens were studied by ABC kit immunohistochemical staining detection using CD117 monoclonal antibodies. The immunoreaction scores (IRS) of all the specimens were calculated and analysed for their clinical significance. RESULTS: Among the 74 germ cell tumors, 31 out of 32 (9 6.9%) seminomas showed positive staining of the CD117 mostly on the cell membrane. Four of 31 (12.9%) nonseminomas displayed a weak positive staining of CD117 only in the cytoplasm of a few cells. In 10 of 11 mixed germ cell tumors, a relatively weak expression of CD117 was shown only in the seminoma component. The CD117 expression was diagnostically decreased from seminoma to mixed seminoma and to nonseminoma successively, with IRS of 6.82 +/- 2.76, 1.25 +/- 0.42 and 0.60 +/- 0.16, respectively. There was a significant difference in the CD117 expression between seminoma and nonseminoma (P < 0.05). CD 117 proteins were positively expressed in all the 20 specimens of the normal testis. CONCLUSION: The detection of CD117 by immunohistochemical staining using CD117 monoclonal antibodies is a newly developed useful method for differentiating seminoma and nonseminoma.