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1.
Chinese Journal of Medical Genetics ; (6): 423-428, 2023.
Article in Chinese | WPRIM | ID: wpr-981765

ABSTRACT

OBJECTIVE@#To explore the genetic basis for 7 families with gonadal mosaicism for Duchenne muscular dystrophy (DMD).@*METHODS@#For the 7 families presented at the CITIC Xiangya Reproductive and Genetic Hospital from September 2014 to March 2022, clinical data were collected. Preimplantation genetic testing for monogenic disorders (PGT-M) was carried out for the mother of the proband from family 6. Peripheral venous blood samples of the probands, their mothers and other patients from the families, amniotic fluid samples from families 1 ~ 4 and biopsied cells of embryos cultured in vitro from family 6 were collected for the extraction of genomic DNA. Multiplex ligation-dependent probe amplification (MLPA) was carried out for the DMD gene, and short tandem repeat (STR)/single nucleotide polymorphism (SNP)-based haplotypes were constructed for the probands, other patients, fetuses and embryos.@*RESULTS@#The results of MLPA showed that the probands and the fetuses/probands' brothers in families 1 ~ 4, 5, 7 had carried the same DMD gene variants, whilst the probands' mothers were all normal. The proband in family 6 carried the same DMD gene variant with only 1 embryo (9 in total) cultured in vitro, and the DMD gene of the proband's mother and the fetus obtained through the PGT-M were normal. STR-based haplotype analysis showed that the probands and the fetuses/probands' brothers in families 1 ~ 3 and 5 have inherited the same maternal X chromosome. SNP-based haplotype analysis showed that the proband from family 6 has inherited the same maternal X chromosome with only 1 embryo (9 in total) cultured in vitro. The fetuses in families 1 and 6 (via PGT-M) were both confirmed to be healthy by follow up, whilst the mothers from families 2 and 3 had chosen induced labor.@*CONCLUSION@#Haplotype analysis based on STR/SNP is an effective method for judging gonad mosaicism. Gonad mosaicisms should be suspected for women who have given births to children with DMD gene variants but with a normal peripheral blood genotype. Prenatal diagnosis and reproductive intervention may be adapted to reduce the births of further affected children in such families.


Subject(s)
Male , Pregnancy , Child , Humans , Female , Muscular Dystrophy, Duchenne/diagnosis , Dystrophin/genetics , Mosaicism , Exons , Prenatal Diagnosis/methods , Nucleotides
2.
Chinese Journal of School Health ; (12): 1116-1120, 2023.
Article in Chinese | WPRIM | ID: wpr-985435

ABSTRACT

Abstract@#Child abuse is a global public health problem, which has emerged as a neglected yet pressing issue in global development. Early and accurate identification of abuse at a lower-age group is of great significance for treatment, which might reduce the risk of re-maltreatment and promote children s physical and mental health development. Therefore, by reviewing the clinical characteristics, risk factors and existing abuse identification and screening tools of child abuse, the study aims at providing basic evidence for the development of child abuse risk identification tools and the establishment of child maltreatment system in China, so as to take timely intervention measures to prevent adverse outcomes or reduce their severity.

3.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (12): 570-574, 2023.
Article in Chinese | WPRIM | ID: wpr-982787

ABSTRACT

Objective:To investigate surgical treatment of carotid artery diseases in neck tumor surgery. Methods:A retrospective analysis of the clinical data on carotid artery treatment was conducted in the five cases of neck tumor surgeries treated at Department of Surgical Oncology, the First Peoples Hospital of Lanzhou from March 2010 to May 2020. Surgical methods, including carotid artery resection and ligation, tumor-involved artery resection and vascular reconstruction, and tumor peeling and carotid rupture repairing were used, respectively. Results:Five cases were successfully operated on. One case of carotid artery ligation was followed by intermittent dizziness and decreased contra-lateral limb strength after the surgery. The remaining patients exhibited no neurological complications. A patient with cervical low-grade myofibroblastoma developed into lung metastases 8 months after the surgery. Another patient with cervical lymph node metastases in papillary thyroid cancer developed into lung metastases 24 months after the surgery. Conclusion:Currently, surgical methods for clinical treatment of diseased carotid arteries include carotid artery resection and ligation, simple tumor peeling, tumor invasion artery resection and vascular reconstruction, and interventional therapy. Each surgical method has its own advantages and disadvantages. Therefore, the choice of treatment depends on the patient's specific conditions, physician's clinical experience, and the equipment available.


Subject(s)
Humans , Retrospective Studies , Carotid Arteries/pathology , Head and Neck Neoplasms/pathology , Thyroid Neoplasms/surgery , Lung Neoplasms/pathology
4.
China Pharmacy ; (12): 1415-1421, 2023.
Article in Chinese | WPRIM | ID: wpr-976262

ABSTRACT

OBJECTIVE To study the effects of the active component 17-hydroxy-jolkinolide B (HJB) of Euphorbia fischeriana on the proliferation and apoptosis of human triple-negative breast cancers (TNBC) MDA-MB-231 and MDA-MB-468 cells. METHODS MTT assay was adopted to detect the inhibitory rate of MDA-MB-231 and MDA-MB-468 cells proliferation after treated with 0 (blank control),5,10,20,40,80 μmol/L HJB for 24, 48 and 72 h. Laser confocal microscope and flow cytometry were adopted to detect the apoptosis, mitochondrial membrane potential(MMP) and reactive oxygen species (ROS) of above 2 kinds of cells after treated with 0 (blank control), 10,20,40 μmol/L HJB for 24 h. Western blot assay was used to detect the expressions of B cell lymphoma-2( Bcl-2), Bcl-2-associated X protein (Bax), cytochrome-C (Cyt-C), caspase-3, cleaved caspase- 3, caspase-9 and cleaved caspase-9. RESULTS Compared with blank control group, 5,10,20,40,80 μmol/L HJB could significantly increase the inhibitory rate of MDA-MB-231 and MDA-MB-468 cells proliferation (P<0.05), in dose- and time- dependent trend. After 24 h treatment of HJB (10,20,40 μmol/L), the apoptosis of above 2 kinds of cells increased, and the total apoptotic rate increased significantly (P<0.05); the mitochondrial membrane potential decreased significantly (P<0.05); the level of ROS increased significantly (P<0.05); the protein expressions of Bcl-2, caspase-3 and caspase-9 were decreased significantly (P< 0.05), while the protein expressions of Cyt-C, Bax, cleaved caspase-3 and cleaved caspase-9 were increased significantly (P<0.05). CONCLUSIONS HJB can inhibit the proliferation of MDA-MB-231 and MDA-MB-468 cells, and induce their apoptosis.

5.
Acta Pharmaceutica Sinica ; (12): 1352-1360, 2022.
Article in Chinese | WPRIM | ID: wpr-924746

ABSTRACT

This study investigated the effect of puerarin on human umbilical vein endothelial cells (HUVEC) injured with hydrogen peroxide (H2O2). HUVEC were divided into three groups: a control group, a model group (H2O2 400 μmol·L-1) and a puerarin-treated group (3, 10, 30 and 100 μmol·L-1). HUVEC were cultured with varied concentration of puerarin for 2 h and treated with H2O2 for another 24 h. Cell proliferation was detected by a CCK-8 assay. The mitochondrial membrane potential was measured by a JC-1 fluorescent probe. A transwell chamber assay was adopted to observe cell migration ability. Mitochondrial respiratory function was measured in a two-chamber titration injection respirometer (Oxygraph-2k). The expression of interleukin-1β (IL-1β), interleukin-18 (IL-18) and tumor necrosis factor-α (TNF-α) was detected by quantitative real-time PCR. The expression of pyroptosis-mediated proteins, including cleaved-cysteinyl aspartate-specific proteinase-1 (caspase-1), N-gasdermin D (N-GSDMD), NOD-like receptor protein 3 (NLRP3) and purinergic ligand-gated ion channel 7 receptor (P2X7R) was detected by Western blot. The results show that 400 μmol·L-1 H2O2 treatment for 24 h causes obvious damage to HUVEC. Compared with the model group, puerarin protected against cellular injury in a dose-dependent manner, with the greatest effect at a dose of 30 and 100 μmol·L-1. Puerarin significantly decreased the mitochondrial membrane potential and improved mitochondrial function. Puerarin inhibited cell migration induced by H2O2, suppressed the expression of IL-1β, IL-18 and TNF-α, and down-regulated the pyroptosis-mediated protein. These changes are statistically significant (P < 0.05). These findings demonstrate that puerarin has a protective effect against H2O2-induced oxidative damage of HUVEC by inhibiting the migration of HUVEC cells. The mechanism may be related to improved mitochondrial respiratory function and inhibition of pyroptosis.

6.
Chinese Journal of Medical Genetics ; (6): 269-275, 2022.
Article in Chinese | WPRIM | ID: wpr-928400

ABSTRACT

OBJECTIVE@#To determine the carrier rate for 21 inherited metabolic diseases among a Chinese population of childbearing age.@*METHODS@#A total of 897 unrelated healthy individuals (including 143 couples) were recruited, and DNA was extracted from their peripheral blood samples. Whole exome sequencing (WES) was carried out to screen potential variants among 54 genes associated with 21 inherited metabolic diseases. Pathogenic and likely pathogenic variants and unreported loss-of-function variants were analyzed.@*RESULTS@#One hundred fourty types of pathogenic/likely pathogenic variants (with an overall number of 183) and unreported loss-of-function variants were detected, which yield a frequency of 0.20 per capita. A husband and wife were both found to carry pathogenic variants of the SLC25A13 gene and have given birth to a healthy baby with the aid of preimplantation genetic diagnosis. The detected variants have involved 40 genes, with the most common ones including ATP7B, SLC25A13, PAH, CBS and MMACHC. Based on the Hardy-Weinberg equilibrium, the incidence of the 21 inherited metabolic diseases in the population was approximately 1/1100, with the five diseases with higher incidence including citrullinemia, methylmalonic acidemia, Wilson disease, glycogen storage disease, and phenylketonuria.@*CONCLUSION@#This study has preliminarily determined the carrier rate and incidence of 21 inherited metabolic diseases among a Chinese population of childbearing age, which has provided valuable information for the design of neonatal screening program for inherited metabolic diseases. Pre-conception carrier screening can provide an important measure for the prevention of transmission of Mendelian disorders in the population.


Subject(s)
Female , Humans , Infant, Newborn , Asian People/genetics , China , Exome , Metabolic Diseases/genetics , Mitochondrial Membrane Transport Proteins/genetics , Oxidoreductases/genetics , Exome Sequencing
7.
Acta Physiologica Sinica ; (6): 962-969, 2022.
Article in Chinese | WPRIM | ID: wpr-970091

ABSTRACT

Short-term intermittent fasting (IF) is beneficial to weight control in patients with nonalcoholic fatty liver disease, but the impact of long-term IF is not clear. In this study, healthy C57BL/6N mice with 4-month alternate day fasting (ADF) were used to study the effects of long-term IF on systemic and liver lipid metabolism. The results showed that, compared with the Ad Libitum group, the weight and food conversion rate of mice in the ADF group were markedly decreased and increased respectively, and the liver index and the liver content of triglyceride were significantly increased by pathological examination. qRT-PCR analysis revealed that the mRNA expression of the lipogenesis gene Pparγ and lipolysis gene Atgl was up-regulated in the ADF group (P < 0.05). Western blot analysis showed that the ratio of microtubule associated protein LC3-II/LC3-I was increased, while the abundance of autophagy adaptor protein p62 was decreased in the ADF group. In addition, autophagy signal positive regulation key factor AMPK phosphorylation was increased (P < 0.05), and negative regulation factor mTOR phosphorylation was decreased (P < 0.05) in the ADF group, indicating that hepatocyte autophagy activity was elevated. Taken together, ADF for 4 months results in an excessive liver triglyceride accumulation, accompanied by a marked decrease in liver mTOR phosphorylation and a significant increase in hepatic autophagy.


Subject(s)
Mice , Animals , Intermittent Fasting , Mice, Inbred C57BL , Liver/pathology , TOR Serine-Threonine Kinases , Lipid Metabolism , Autophagy , Triglycerides
8.
Chinese Journal of Endemiology ; (12): 301-304, 2022.
Article in Chinese | WPRIM | ID: wpr-931540

ABSTRACT

Objective:To study the iodine nutritional status and thyroid function of adult males in iodine nutrition appropriate rural areas of Gansu Province.Methods:In 2017, Liangzhou District and Linze County of Gansu Province with suitable children iodine nutrition were selected as the study areas and 52 males aged 20 - 49 years old were investigated in each study area. One random urine sample was collected to determine urinary iodine. Fasting blood samples were collected to determine serum thyroid-stimulating hormone (TSH), free triiodothyronine (FT 3), free thyroxin (FT 4), thyroglobulin antibody (TgAb) and thyroid microsomal antibody (TMAb). At the same time, thyroid examination was performed by B-ultrasound. Results:The median urinary iodine of adult males in Liangzhou District and Linze County was 180.2 and 161.0 μg/L, respectively, and the difference was statistically significant ( P < 0.05). There was no goiter in adult males in Liangzhou District and Linze County. The serum TSH (median), FT 3 and FT 4 (mean value) of adult males in Liangzhou District and Linze County were 1.85, 1.61 mU/L, 5.19, 5.16 pmol/L and 16.58, 16.30 pmol/L, respectively. There were no significant differences between the two areas ( P > 0.05). The overall abnormal rate of thyroid function in the two areas was 6.7% (7/104), mainly subclinical hypothyroidism (6/7). The incidences of thyroid dysfunction in Liangzhou District and Linze County were 5.8% (3/52) and 7.7% (4/52), respectively, with no statistical difference between the two areas ( P > 0.05). The total positive rate of antibody was 12.5% (13/104). The positive rates of antibody in Liangzhou District and Linze County were 13.5% (7/52) and 11.5% (6/52), respectively, with no statistical difference between the two areas ( P > 0.05). Both TgAb and TMAb were positive in 9/13 of antibody positive persons, of which the proportion of antibody positive persons in Liangzhou District and Linze County were 7/7 and 2/6, respectively. The 11/13 of the total antibody positive persons were simple antibody positive without thyroid hormone and TSH abnormalities. Conclusion:The iodine nutrition of adult males in iodine nutrition appropriate rural areas of Gansu Province is suitable, but there is a potential risk of thyroid disease in this population, which should be paid attention to and checked regularly.

9.
Acta Pharmaceutica Sinica ; (12): 1872-1879, 2021.
Article in Chinese | WPRIM | ID: wpr-887012

ABSTRACT

Ischemic heart disease (IHD), which has been considered to be exclusively caused by stenosis or occlusion of coronary artery, is a significant cause of morbidity and mortality worldwide. Mitochondrial dysfunction is the main pathological basis of ischemic heart disease and reperfusion injury, and moderate mitochondrial autophagy can selectively remove damage proteins and organelles to maintain intracellular homeostasis, so mitochondrial autophagy is important for maintaining the homeostasis of cardiomyocytes. Natural drugs from plants are widely used in ischemic heart disease. In recent years, more and more natural drugs have been proven to alleviate myocardial cell damage after ischemia/reperfusion through mitochondrial autophagy. This paper reviews the research progress of natural drugs from plants medicines regulating mitochondrial autophagy in the treatment of ischemia heart disease.

10.
Acta Pharmaceutica Sinica ; (12): 465-475, 2021.
Article in Chinese | WPRIM | ID: wpr-873763

ABSTRACT

During growth and progression, the microenvironment of tumors suffers a series of abnormal characteristics, which include hypoxia, acid pH, increased oxidative stress, excess glutathione (GSH), as well as certain overexpressed enzymes. Although affect or limit the cancer therapeutic outcomes, these factors provide possible approaches to strategies for cancer detection and novel therapy at the same time. Recently, based on these properties of the tumor microenvironment (TME), various kinds of responsive nano-platforms have been continuously developed and applied in cancer theranostics preliminarily. Thus, this review would introduce the typical features of TME firstly, then detailly summarize the design principles and research progress of corresponding hypoxia-responsive, pH-responsive, redox-responsive, enzyme-responsive, dual-responsive and multi-responsive nano-platforms. Finally, the challenges and the perspectives of the TME-responsive nano-platforms are briefly discussed.

11.
Chinese Journal of Medical Genetics ; (6): 343-346, 2021.
Article in Chinese | WPRIM | ID: wpr-879582

ABSTRACT

OBJECTIVE@#To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).@*METHODS@#For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.@*RESULTS@#Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.@*CONCLUSION@#FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.


Subject(s)
Female , Humans , Fragile X Mental Retardation Protein/metabolism , Fragile X Syndrome/genetics , Ovarian Diseases , Ovarian Reserve/genetics , Primary Ovarian Insufficiency/genetics , Trinucleotide Repeats/genetics
12.
Asian Journal of Andrology ; (6): 421-428, 2021.
Article in English | WPRIM | ID: wpr-888434

ABSTRACT

Sperm morphology was once believed as one of the most predictive indicators of pregnancy outcome in assisted reproductive technology (ART). However, the impact of teratozoospermia on in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) outcomes and its offspring remains inconclusive. In order to evaluate the influence of teratozoospermia on pregnancy outcome and newborn status after IVF and ICSI, a retrospective study was conducted. This was a matched case-control study that included 2202 IVF cycles and 2574 ICSI cycles and was conducted at the Reproductive and Genetic Hospital of CITIC-Xiangya in Changsha, China, from June 2013 to June 2018. Patients were divided into two groups based on sperm morphology: teratozoospermia and normal sperm group. The pregnancy outcome and newborn outcome were analyzed. The results indicated that couples with teratozoospermia had a significantly lower optimal embryo rate compared to those with normal sperm morphology in IVF (P = 0.007), while there were no statistically significant differences between the two groups in terms of the fertilization rate, cleavage rate, implantation rate, and pregnancy rate (all P > 0.05). Additionally, teratozoospermia was associated with lower infant birth weight in multiple births after IVF. With regard to ICSI, there was no significant difference in both pregnancy outcome and newborn outcome between the teratozoospermia and normal groups (both P > 0.05). Furthermore, no increase in the risk of birth defects occurred in the teratozoospermia group after IVF/ICSI. Consequently, we believe that teratozoospermia has limited predictive value for pregnancy outcomes in IVF/ICSI, and has little impact on the resulting offspring if multiple pregnancy is avoided.

13.
Chinese Medical Journal ; (24): 1935-1942, 2020.
Article in English | WPRIM | ID: wpr-827892

ABSTRACT

BACKGROUND@#The casein kinase 2-interacting protein-1 (CKIP-1) is important in the development of osteoblasts and cardiomyocytes. However, the effects of CKIP-1 on osteoblast precursor mesenchymal stem cells (MSCs) remain unclear. This study aimed to determine whether CKIP-1 affects osteogenic differentiation in MSCs and explore the relationship of CKIP-1 and inflammation.@*METHODS@#Bone marrow MSCs of CKIP-1 wild type (WT) and knockout (KO) mice were cultivated in vitro. Cell phenotype was analyzed by flow cytometry, colony formation was detected to study the proliferative ability. Osteogenic and adipogenic induction were performed. The osteogenic ability was explored by alizarin red staining, alkaline phosphatase (ALP) staining and ALP activity detection. Quantitative real-time polymerase chain reaction (qRT-PCR) was carried out to determine the mRNA expression levels of osteoblast marker genes. The adipogenic ability was detected by oil red O staining. Content of the bone was analyzed to observe the differences of bone imaging parameters including trabecular bone volume/tissue volume (BV/TV), bone surface area fraction/trabecular BV, trabecular number (Tb.N), and trabecular spacing (Tb.sp). Interleukin (IL)-1β was injected on WT mice of 2 months old and 18 months old, respectively. Difference in CKIP-1 expression was detected by RT-PCR and western blot. The relationship between CKIP-1 and inflammation was explored by RT-PCR and western blot.@*RESULTS@#ALP assays, alizarin red staining, and qRT-PCR showed that MSCs derived from CKIP-1 KO mice exhibited a stronger capability for osteogenesis. Micro-computed tomography detection showed that among 18-month-old mice, CKIP-1 KO mice presented significantly higher bone mass compared with WT mice (P = 0.02). No significant difference was observed in 2-month-old mice. In vivo data showed that expression of CKIP-1 was higher in the bone marrow of aging mice than in young mice (4.3-fold increase at the mRNA level, P = 0.04). Finally, the expression levels of CKIP-1 in bone marrow (3.2-fold increase at the mRNA level, P = 0.03) and cultured MSCs were up-regulated on chronic inflammatory stimulation by IL-1β.@*CONCLUSIONS@#CKIP-1 is responsible for negative regulation of MSC osteogenesis with age-dependent effects. Increasing levels of inflammation with aging may be the primary factor responsible for higher expression levels of CKIP-1 but may not necessarily affect MSC aging.

14.
Chinese Pharmaceutical Journal ; (24): 47-52, 2019.
Article in Chinese | WPRIM | ID: wpr-858110

ABSTRACT

OBJECTIVE: To investigate the effects of alcohol on release characteristics of metformin hydrochloride extended-release tablets in vitro and in vivo. METHODS: The release behaviors and swelling of self-made metformin hydrochloride extended-release tablets and commercial products Glucophage XR in different release media including water, 5% alcohol, 20% alcohol and 40% alcohol were investigated and similar factor method was used to evaluate the similarity of release. Based on results in vitro, water and the alcoholic medium with significant differences were selected for Beagle dogs experiments to investigate further the effects of alcohol on release characteristics of metformin hydrochloride extended-release tablets in vivo. RESULTS: Along with the increase of the alcohol concentration in the release media, both formation rate of the gel layer became slower and the penetration of the solvents became less in the swelling process, only dissolving a small amount of drug, so the release of self-made tablets and Glucophage XR gradually decreased in vitro. Both release in 40% alcohol produced a significant difference compared with that in water (f2<50), but the release of self-made tablets was greatly similar to Glucophage XR in the same media.In vivo studies of Beagle dogs revealed that an initial low release of both preparations was observed in 40% alcohol which was consistent with the vitro, while a certain increase was observed later, but the overall release was not statistically different from that of the water supply group. Moreover,the main pharmacokinetic parameters of the self-made tablets and Glucophage XR between the water-supply group and the 40% alcohol-supply group had no statistical difference. CONCLUSION: Alcohol has the same effects on the release characteristics of self-made metformin hydrochloride extended-release tablets and Glucophage XR in vitro and in vivo. High concentration of alcohol has a significant effect on the release characteristics in vitro, but it has no significant effect on the overall release in vivo.

15.
Journal of Medical Postgraduates ; (12): 641-643, 2018.
Article in Chinese | WPRIM | ID: wpr-700888

ABSTRACT

Objective Coralline hydroxyapatite (CHA),in comparison with Bio-Oss bone meal,is a material with extensive resources but no immunogenicity or risk of disease-transmission. The aim of this article was to study the clinical application of CHA in ridge preservation in the maxillary anterior zone. Methods Twenty-six patients underwent extraction of maxillary anterior teeth (n=26) for chronic periodontitis or periapical periodontitis. The patients were randomly assigned into a CHA and a control group of equal number to receive ridge preservation with CHA and Bio-Oss bone meal respectively. Cone beam computed tomography (CBCT) was performed immediately and at 4 months after ridge preservation to compare the vertical and horizontal alterations of the alveolar ridge be-tween the two groups of patients. Results After ridge preservation,both the CHA and control groups showed a reduction in the width ([1.1±0.7] vs [1.3±1.9] mm) and height of the alveolar ridge ([1.3±1.6] vs [1.2±1.4] mm),but with no statistically significant differences between the two groups (P<0.05). Conclusion For ridge preservation in the maxillary anterior zone,CHA has a similar effect to that of Bio-Oss bone meal and therefore is an ideal material for bone graft.

16.
Journal of Central South University(Medical Sciences) ; (12): 940-946, 2017.
Article in Chinese | WPRIM | ID: wpr-607538

ABSTRACT

Objective:To explore associations of subclinical hypothyroidism (SCH) with endocrine metabolic characteristics in women with polycystic ovary syndrome (PCOS).Methods:A total of 321 women who were newly diagnosed as PCOS were recruited from two endocrine outpatient clinics.The diagnosis of PCOS was established according to the 2003 Rotterdam consensus criteria.Thyroid function was examined by chemiluminescent immunoassay.Patients who had normal free thyroxine (FT4) were divided into different SCH subgroups according to two thyroid stimulating hormone (TSH) cutoffpoints (4.2 and 2.5 mU/L).Endocrine metabolic characteristics in different subgroups were compared and analyzed.Results:In PCOS women with normal FT4,the patients with TSH ≥ 4.2 mU/L had higher prolactin (PRL),luteinizing hormone-to-follicle stimulating hormone ratio,and visceral adipose index (all P<0.05).There were trends toward an increase in triglyceride (P=0.085) and a decrease in high-density lipoprotein cholesterol (HDL-C) (P=0.060) in the patients with TSH ≥ 4.2 mU/L compared with that in the patients with TSH<4.2 mU/L.Also in PCOS women with normal FT4,the patients with TSH ≥ 2.5 mU/L had higher body mass index,PRL,triglyceride,visceral adipose index and lower HDL-C in comparison of that in the patients with TSH<2.5 mU/L (all P<0.05).Conclusion:SCH is associated with more severe endocrine abnormality,dyslipidemia,and visceral obesity in PCOS women.PCOS women with normal FT4 and endocrine metabolic characteristics are more prone to be different between the SCH group and the euthyroid group when setting 2.5 mU/L as a TSH cutoff for SCH,indicating that 2.5 mU/L is a good TSH cutoff for SCH in PCOS women.

17.
Chinese Journal of Medical Genetics ; (6): 196-199, 2017.
Article in Chinese | WPRIM | ID: wpr-335157

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations.</p><p><b>RESULTS</b>Two previously unreported homozygous mutations, c.419delA and c.1510C>T of the FSHR gene were found in the probands of family I and II, respectively. Pedigree and bioinformatics analysis suggested that both mutations were pathogenic. Literature review suggested that both families were affected with resistant ovary syndrome rather than premature ovarian failure.</p><p><b>CONCLUSION</b>Two novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction.</p>


Subject(s)
Adolescent , Adult , Female , Humans , Male , Young Adult , Asian People , Genetics , Base Sequence , China , Molecular Sequence Data , Mutation , Ovarian Diseases , Diagnosis , Genetics , Pedigree , Receptors, FSH , Genetics
18.
Chinese Journal of Contemporary Pediatrics ; (12): 746-750, 2016.
Article in Chinese | WPRIM | ID: wpr-261154

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS).</p><p><b>METHODS</b>The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis.</p><p><b>RESULTS</b>The proband carried compound heterozygous mutations of c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene; c.88C>T(p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T>A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis.</p><p><b>CONCLUSIONS</b>The compound heterozygous mutations c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.</p>


Subject(s)
Female , Humans , Infant , Pregnancy , Bartter Syndrome , Diagnosis , Genetics , Mutation , Prenatal Diagnosis
19.
Journal of Southern Medical University ; (12): 1295-1298, 2016.
Article in Chinese | WPRIM | ID: wpr-256607

ABSTRACT

<p><b>OBJECTIVE</b>To identify a rare α-thalassemia gene mutation in a family from south China and perform a pedigree analysis and genetic diagnosis of hemoglobin H (HbH) disease caused by this mutation.</p><p><b>METHODS</b>Peripheral blood samples were collected from the family members for analysis of the hematological phenotype and routine test of thalassemia genes. DNA sequencing was carried out for samples that showed genotype and phenotype inconsistency.</p><p><b>RESULTS</b>A rare α-thalassemia *92A>G gene mutation was detected within this family. The proband and his sister were confirmed to have non-deletional HbH disease with α--/αα genotype. The proband's brother was confirmed to have an α-thalassemia trait with the genotype of -α/αα. The proband's father was identified as an α-thalassemia silent carrier with the genotype of αα/αα.</p><p><b>CONCLUSION</b>A rare α-thalassemia *92A>G gene mutation was identified for first time in south China. The description of the basic phenotypic characteristics of α-thalassemia trait and silent carrier caused by this mutation enriches the α-thalassemia gene mutation spectrum in Chinese population and helps in population screening, clinical molecular diagnosis and genetic counseling.</p>

20.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 593-597, 2015.
Article in English | WPRIM | ID: wpr-602169

ABSTRACT

Objective: To analyze influencing factors of in-stent restenosis after coronary artery stent implantation, to provide theoretical support for clinical prevention of restenosis. Methods: Clinical data of 123 patients, who received coronary artery stent implantation in our hospital from Mar 2011 to Sep 2013 and received coronary angiography follow-up one year after operation, were retrospectively analyzed. In-stent restenosis was regarded as stenosis of inner diameter of implanted stent≥50%, so patients were divided into restenosis group (n=35) and non-restenosis group (n=88). Multi-factor Logistic regression analysis was used to analyze influencing factors of coronary in-stent restenosis. Results: Compared with non-restenosis group, there were significant reductions in serum level of total bilirubin [(14.02±6.76) μmol/L vs. (10.90±4.51) μmol/L] and stent diameter [(3.06±0.86) mm vs. (2.87±0.44) mm] in restenosis group, P<0.01 both. Multi-factor Logistic regression analysis indicated that blood glucose level was independent risk factor for restenosis after coronary artery stent implantation (OR=2.545, P=0.035), while stent diameter and serum level of total bilirubin were its protective factors (OR=0.857, 0.850, P<0.05 both). Conclusion: Blood glucose level is an independent risk factor for restenosis after coronary artery stent implantation, while stent diameter and serum level of total bilirubin are its protective factors.

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