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1.
Medicine (Baltimore) ; 103(4): e36935, 2024 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-38277527

RESUMEN

In this study, the height, sitting height, lower extremity length, growth status, and body proportions of elementary school students aged 6 to 12 years in Tianyuan District of Zhuzhou City, China, were analyzed. A total of 41,156 children from 38 elementary schools in the Tianyuan District of Zhuzhou City were selected for height measurement, employing the cluster sampling method. After the cluster data were obtained, the height and sitting height information were extracted, and calculations were performed for lower extremity length, sitting height-to-lower extremity length ratio, and sitting height-to-height ratio. Statistical analysis was conducted using SPSS 23.0 software. The height and sitting height measurements of boys and girls aged 6 to 12 years in Tianyuan District surpassed the 2005 national standard set for 9 cities, while the lower extremities of children within the 7 to 9 age range fell below the national standard. In alignment with the national average, the fitted curve representing height for both boys and girls aged 6 to 12 years in Tianyuan District exhibited an intersection point around 10 to 10.5 years. No discernible distinction was observed in the incidence of short stature, as analyzed through the P3 standard, between the fitted curve for Tianyuan District and the national standard. Moreover, tall children exhibited a significantly lower sitting height-to-height ratio compared to their shorter counterparts. The fitted height curve in Tianyuan District, Zhuzhou City, proves effective in discerning shorter-statured children within the region. Nevertheless, further research is warranted to elucidate the factors contributing to the comparatively shorter lower extremities observed in children from Tianyuan District, Zhuzhou City, in contrast to the national average.


Asunto(s)
Estatura , Enanismo , Niño , Masculino , Femenino , Humanos , Sedestación , Prevalencia , Ciudades , Extremidad Inferior , Estudiantes
2.
Pharmgenomics Pers Med ; 16: 1091-1096, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38116086

RESUMEN

Background: Floating-Harbor syndrome (FHS) is a rare autosomal dominant inherited disease characterized primarily by short stature, delayed language development, and typical facial features. There are currently few case reports, diagnoses and treatments for these syndromes at home and abroad. Case Description: This study reports a case of a boy with "growth and language development delay" as the predominant clinical manifestation. FHS was clinically diagnosed based on his growth hormone (GH) deficiency, significant bone age delay, left testicular hydrocele, and the whole exon gene in peripheral blood, which indicated heterozygous mutation of SRCAP gene. Following the treatment with recombinant human GH (rhGH), the child exhibited height increase benefits, and his articulation improved after language therapy. Conclusion: Genetic testing facilitates early detection, diagnosis, and treatment of the FHS. Additionally, treatment with rhGH effectively increases the height of these children, and language rehabilitation is especially important for their language development.

3.
Pharmgenomics Pers Med ; 16: 817-823, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37705935

RESUMEN

Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been documented in the literature. In this report, we discuss a patient diagnosed with CFCS without the typical heart malformations but with craniofacial features, skin abnormalities, intellectual disability, and short stature. Genetic testing revealed the presence of three potentially harmful variants: one in the MAP2K1 gene and two in the ATP2B3 and CDC42BPB genes, the significance of which is currently not yet found. Our findings in this case report suggest that the clinical symptoms of CFCS may be atypical, thereby expanding our understanding of the symptom spectrum of the disease. Simultaneously, the link between the clinical symptoms of the patient and the two unknown pathogenic variants has not been established. This case report supplements existing clinical reference material by providing valuable insights into the specific scenario.

4.
Pharmgenomics Pers Med ; 16: 443-448, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37220549

RESUMEN

Background: Primary ciliary dyskinesia (PCD) is a group of autosomal recessive genetic diseases caused by abnormal ciliary ultrastructure and/or function, resulting in reduced ciliary clearance function or other dysfunctions. PCD is one of the causes of recurrent respiratory tract infections in children. At present, there is no gold standard for diagnosis. In patients clinically suspected with PCD, a variety of examination methods are available to assist in diagnosis, such as high-speed video microscopic imaging to analyze ciliary movement patterns, transmission electron microscopy to observe ciliary ultrastructure, genetic testing, and detection of nitric oxide content in nasal expiratory air. Case Description: We present a case summary of the clinical data and treatment process of a child with PCD and short stature induced by Novel exon 1 of CCNO mutation (NM-021147.5) at c.323del, and the proband father and mother were heterozygous mutators, who was diagnosed and treated in the Pediatric Healthcare Department of our hospital. We treated the child with recombinant human growth hormone to increase the height, and the patient was also advised to improve nutrition, prevent and control infections, and encouraged sputum expectoration. We also recommended regular follow-up visits to the outpatient department, and to seek other symptomatic and supportive treatments as necessary. Conclusion: The height and nutritional status of the child improved after treatment. We also reviewed relevant literature to help clinicians improve their understanding of this disease.

5.
Int J Clin Pract ; 2022: 4673964, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36531559

RESUMEN

Objective: To explore the nutritional status of serum fat-soluble vitamins such as vitamin A, 25-hydroxyvitamin D, and vitamin E of minors in the Zhuzhou area to provide a scientific basis for clinical guidance to supplement fat-soluble vitamins reasonably. Method: A total of 6,082 minors who underwent physical examination from January 2017 to February 2019 in the Children's Health Department of Zhuzhou Hospital affiliated with XiangYa School of Medicine of Central South University were selected as the subjects to measure the levels of serum fat-soluble vitamins A, D, and E. Results: (1) Their average levels of serum vitamin A, 25-hydroxyvitamin D, and vitamin E were (0.34 ± 0.08) mg/mL, (34.65 ± 10.24) ng/mL, and (10.11 ± 2.65) mg/mL, respectively. (2) Serum vitamin E showed a gender difference (P < 0.001). (3) The average levels of serum 25-hydroxyvitamin D and vitamin E in infancy, early childhood, preschool age, school age, and adolescence decreased gradually (P < 0.05). In contrast, the average level of serum vitamin A ranged between 0.32 mg/mL and 0.37 mg/mL. (4) The age was negatively correlated with serum 25-hydroxyvitamin D (r = -0.517, P < 0.001) and weakly negatively correlated with vitamin E (r = -0.366, P < 0.001), but weakly positively correlated with vitamin A (r = 0.269, P < 0.001). Conclusion: Minors from infancy to adolescence in Zhuzhou should strengthen their supplementation of fat-soluble vitamins.


Asunto(s)
Menores , Vitamina A , Niño , Adolescente , Preescolar , Humanos , Vitaminas , Vitamina D , Vitamina E , Suplementos Dietéticos
6.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-691520

RESUMEN

Objective:To investigate the effects of Exendin-4 (Ex-4) on the expressions of lipid metabolism related genes in the human liver cancer HepG2 cells with insulin resistance (IR),and to elucidate the effect of Ex-4in improvement of IR.Methods:The HepG2 cells in logarithmic growth phase were induced into IR model with high concentration of insulin,then divided into control group (HepG2 cells),IR group (HepG2 cells were treated with insulin,HepG2-IR cells),and Ex-4 group (HepG2-IR cells were treated with Ex-4).Glucose oxidase (GOD-POD)kit was used to detect the consumption of glucose.The cell morphology and intracellular lipid drip formation were observed by Oil red O staining.The triglyceride (TG) level in cells was detected by kit;qRT-PCR was used to detect the mRNA expression levels of acetyl-CoA carboxylase (ACC),fatty acid synthase (FAS),sterol regulatory element-binding protein-1c (SREBP-1c) and apolipoprotein B100 (apoB100).Results:Compared with control group (HepG2 cells),the glucose consumption in the HepG2-IR cells in IR group was significantly decreased (P<0.01).Compared with IR group,the glucose consumption in the HepG2-IR cells in Ex-4 group was increased (P<0.05).The Oil O red staining results showed that compared with control group,the fat percentage in the HepG2-IR cells in IR group was increased (P<0.05);compared with IR group,the fat percentage in Ex-4 group was decreased (P<0.05).Compared with control group,the level of TG in the cells in IR group was significantly increased (P<0.01);compared with IR group,the level of TG in the cells in Ex-4 group was significantly decreased (P<0.05).The qT-PCR results showed that compared with control group,the expression levels of ACC FAS and SREBP-1cmRNA in the cells in IR group were increased (P<0.01),and the expression level of apoB100 mRNA was decreased (P<0.05);compared with IR group,the expression levels of ACC,FAS and SREBP-1c mRNA in the cells in Ex-4 group were decreased (P<0.05),and the expression level of apoB100 mRNA was increased (P<0.01).Conclusion:Ex-4 can regulate the expressions of lipid metabolism related genes in the HepG2 cells and improve IR.

7.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-600105

RESUMEN

Liver cancer stem cells (LCSC)play the critical role in hepatocellular carcinoma development and maintenance. They are generally dormant or slowly cycling tumor cells that have the ability to reconstitute tumors. LCSC associate closely with tumor resistance to chemo/radiation therapy , tumor relapse and metastasis, and can be identified and separated with some special surface markers from hepatocellular carcinoma, such as CD133, CD90, CD44, CD24 and EpCAM to investigate the biological behaviors of them. Early studies showed that these markers can be regarded as special surface markers of liver cancer stem cells. Recent studies found that aminopeptidase N (APN,CD13+)cells in hepatocellular carcinoma have biological characteristics of stem cells and demonstrated that CD13 is a marker for semiquiescent CSC in human liver cancer cell lines and clinical samples and that targeting these cells might provide a way to treat this disease. In this review,we introduce the structure and the main function of CD13,liver cancer stem cells source and identification,CD13 + CSC in hepatocellular carcinoma and combination therapy in the treatment of liver cancer.

8.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-566312

RESUMEN

Aim To probe the mechanism of the therapeutic effect of APS against DM rats by measuring the level of TNF-?,as well as observing the change of caspase-3 protein in pancreatic beta cells.Methods Thirty DM rats induced by STZ were randomly divided into three groups:DM group,APS low dosage group,APS high dosage group,and another 10 normal rats were taken as the control group.The drug was given for 6 weeks.The research included measuring the level of TNF-? in serum and the expression of caspase-3 protein in pancreatic beta cells.Results ① The level of TNF-? was higher in model group than that of the normal group(P

9.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-562721

RESUMEN

Aim To construct a polysialic acid(PSA)and neural cell adhesion molecule(NCAM)differently expressing COS-7 cell line,and investigate the effects of PSA on the cell adhesion,migration and invasion,aiming to establish the base for further investigation of the signaling passway of the diverse celluar migration and invasion,and elucidate the molecular mechanism of PSA promoting cancer cell metastasis.Methods A polysialic acid and neural cell adhesion molecule differently expressing COS-7 cell line was constructed by transient cotransfection,and the cotransfection efficiency was determined by Western blot and flow cytometry.Adhesion assay was used to investigate the effect of PSA on cell adhesion ability;transwell assay was used to measure migration and invasion ability.Results The PSA and NCAM differently expressing COS-7 cell line was successfully constructed,which demonstrated PSA inhibited the cell adhesion to basement membrane,and promoted the migration and invasion ability.Conclusions The constructed polysialic acid and neural cell adhesion molecule differently expressing COS-7 cell line can be used to investigate molecular mechanism of promoting cancer cell metastasis induced by PSA in the future.

10.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-551330

RESUMEN

Paeonol is an nerb which has been used us an anodyne. The analgesic action of Paeonol has been shown in this paper by using the following methods: Mice licking hind paw on hot plate (55℃); mice wring evoked by ip 0. 7% acetic acid 10 ml ? kg-1; continuous pain stimuli elicited by sc 2. 5% formaldehyde 0. 03 ml in fore paw of mice.No tolerance of analgesic effect was found after daily sc of Paeonol 100 mg ? kg-1for 7 d in mice assayed with hot plate method. In naloxone-challenge test, no jumping response was observed in mice treated with Paeonol 690mg ? kg-1, the maximal tolerance dose. The results indicate that Paeonol induced no morphine-like tolerance norphysical dependence.The analgesic action of Paeonol was not an-tagonizd by naloxone, but was eliminated by in-traperitoneal injection reserpine 3 mg ? kg-1 3 h prior to Paeonol. These results demonstrate that Paeonol belongs to the non-narcotic analgesic, and suggested that the analgesic action of Paeonol may be related to the monoamine level in brain.

11.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-678284

RESUMEN

AIM To study the effects of cyproheptadine (Cyp) on endocrine functions and pituitary adrenalcortex axid in rats and its mechanism METHODS Radioimmunoassay(RIA)was used to measure the serum levels of ACTH and cortisone Ultramicrostructure of the ACTH cells and adrenalcortex and the calmodulin(CaM) mRNA expression of the pituitary and adrenalcortex were observed by electron microscope and the quantity PCR technique RESULTS Cyp 2 3 and 4 6 mg?kg -1 ?d -1 , ig for 14 d had significantly reduced the serum levels of ACTH and cortisone ( P

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