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The Prevalence of heterozygous Familial Hypercholesterolemia among Adult Filipino Patients with Dyslipidemia at Universidad de Santa Isabel Health Services Department: An Observational Descriptive Prospective Study

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World Journal of Cardiovascular Diseases 2023年第7期13卷 377-395页

作者： Suzanne U. Jao-Sanchez Ramon T. Caceres Jr. Shayne S. Calleja-Toledano Internal Medicine Department Universidad de Santa Isabel Health Services Department Naga City Camarines Sur Philippines

Objectives: It is to determine the prevalence of familial hypercholesterolemia (FH) among adult Filipino patients with dyslipidemia at Universidad de Santa Isabel Health Services Department in one year. Methods: An observational descriptive prospective study involves Filipino patients, aged 19 years and older, with dyslipidemia. The Dutch Lipid Network (DLN) Criteria was used to diagnose FH. Prevalence data and categorical variables were expressed as percentages, while continuous variables were reported as mean and standard deviations. Results: 529 patients were included in the study. 302 were females, and 227 were males. 180 (34%) scored Unlikely, 100 (19%) scored Probable, 185 (35%) scored Possible, and 64 (12%) were classified under Definite Familial Hypercholesterolemia. Most of the patients diagnosed with definite FH did not have diabetes, cerebrovascular disease (CVD), and coronary artery disease (CAD). The diagnosis was not affected by gender, BMI, smoking, and alcohol consumption. Hypertension was significantly correlated to the diagnosis of FH, as most of them were already hypertensive at diagnosis. It was noted that hypertension, diabetes, CVD, and CAD were seen at an earlier age among patients with definite FH. Conclusion: The prevalence of heterozygous FH at 12% among dyslipidemia patients and 1.3% among the general population was described for the first time in our region. This result should raise the awareness of our healthcare providers that FH, which is a major risk factor for premature CAD and CVD, exists, and early detection and management are important.

关键词： Prevalence heterozygous Familial Hypercholesterolemia Adult Filipino

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Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

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Pediatric Investigation 2018年第2期2卷 90-95页

作者： Chanjuan Hao Jun Guo Ruolan Guo Zhan Qi Wei Li Xin Ni Beijing Key Laboratory for Genetics of Birth Defects MOE Key Laboratory of Major Diseases in Children Center for Medical Genetics Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijing China Beijing Pediatric Research Institute Department of Otolaryngology Head and Neck Surgery Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijing China

Importance:Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations.This condition specifically leads to disordered steroidogenesis,which can affect the development of the reproductive system,skeleton,and other parts of the body.The severe form of PORD is difficult to differentiate with Antley-Bixler syndrome (ABS).The genetic characters and clinical evaluation of PORD are still unclear in China.Objective:To perform an exome analysis and identify the pathogenic cause in order to assist clinicians to obtain a proper evaluation on the genetic condition.Methods:The proband underwent detailed physical evaluations.DNA of the proband and his parents was isolated and whole-exome sequencing (WES) was performed.Variants were analyzed and evaluation according to the ACMG guideline.Results:A 1-year-old Chinese boy with midface hypoplasia,choanal stenosis,multiple joint contractures,micropenis and right cryptorchidism was misdiagnosed with Crouzon syndrome.By trio-whole-exome sequencing,we identified an unreported compound heterozygous mutation (c.667C＞T,p.R223* and c.1370G＞A,p.R457H) in POR in the proband.This mutation was inherited from healthy heterozygous parents,supporting the diagnosis of PORD,which was further confirmed by biochemical characteristics.Interpretation:We have identified a pathogenic variant with an unreported compound heterozygous POR mutation,which expands the clinical and genetic spectra of PORD and emphasizes the usefulness of WES for genetic diagnosis.

关键词： Compound heterozygous mutation Cytochrome P450 oxidoreductase Disordered steroidogenesis POR deficiency Whole-exome sequencing

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"heterozygous Treatment"Method to Improve the Biased Status of the Damp-Heat Constitution and Symptom Integral:Randomized Controlled Trial

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Journal of Advances in Medicine Science 2018年第1期1卷 33-36页

作者： Xianbing Hou Haizhang Wang Yanzhen Huo Peng Su Hui Zhao Hebei Cangzhou Hospital of Integrated Traditional Chinese and Western Medicine CangzhouHebei061001China

Objective:To observe the clinical effect of"heterozygous treatment"intervening the damp-heat constitution.Method:One hundred and six cases with damp-heat constitution were randomly divided into the observation group and control group,fifty-three cases for each group.Lianpu drink was given to the two groups,and the observation group was treated with scraping,acupuncture,cupping,constitution care and popularization of constitution science for"heterozygous treatment"based on the control group.70 days later,"constitution classification and determination table of traditional Chinese medicine"was used to determine,and statistics was applied to analyze the change of the symptoms of the two groups before and after the intervention.Results:in the observation group,compared to before the intervention,symptoms like dirty and oily complexion,yellow greasy tongue,bitter taste,dullness and scanty dark urine were significantly improved(P0.05).Conclusion:the"heterozygous treatment"method can significantly improve the clinical symptoms of people with damp-heat constitution,with a better role in regulating.

关键词： Damp-Heat constitution heterozygous treatment Efficacy index

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Delivery Outcome in Women with Major Sickle Cell Syndrome: A Comparative Study of the Homozygous Forms “SS” versus the heterozygous “SC”

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Open Journal of Obstetrics and Gynecology 2015年第12期5卷 713-722页

作者： Amah Biova Adama-Hondégla Abdoul-Samadou Aboubakari Kossi Edem Logbo-Akey Kodjo Fiagnon Akila Bassowa Koffi Akpadza Department of Gynecology and Obstetrics of the Sylvanus Olympio University Hospital of Lomé Lomé Togo Department of Gynecology and Obstetrics of the University Hospital of Kara Kara Togo

Objectives: To determine the prevalence of women who delivered in the two major sickle cell syndromes, “SS” and “SC”, and to identify maternal and early neonatal prognosis inherent to each form. Material and Methods: This is a comparative, descriptive and retrospective cross-sectional study of 226 files of women carrying major sickle cell syndrome (66 cases of “SS” form versus 160 cases of “SC” form), collected from May 2008 to May 2013 at the Gynecology and Obstetrics Clinic of the Sylvanus Olympio’s University Hospital of Lomé. Data were processed by Epi Info 6 software. For comparison of variables, the Chi-2 test of Fisher with significance as p < 0.05 has been used, so is the calculation of Odds Ratio with its confidence interval at 95%. Results: Carriers of the two major sickle cell syndromes represent 0.8% of all the deliveries during the study period. Caesarean section, especially prophylactic one, was the dominant mode of delivery. The SS forms have been exposed to have more vaso-occlusive crises (22.7% vs. 13.1%;p = 0.04, OR = 0.31), more blood transfusion (57.6% vs. 29.4%;p = 7 × 10-5, OR = 3.2) and more puerperal infections (p < 0.05). Acute chest syndrome was not related to any of the two forms of sickle cell disease (13.6% vs. 8.1%;p = 0.15). The maternal mortality rate and the perinatal mortality among SS form against SC form were not significant (respectively 15.1% vs. 8.7%;20.9% vs. 17.1%). Conclusion: Maternal and fetal complications were present in both forms of major sickle cell syndrome but the "SS" form gave exposure to greater maternal morbidity. Resuscitative measures in adults and newborns should be reinforced at the delivery time of these “at-risk-pregnancies”.

关键词： Sickle Cell Disease Childbirth Prognosis Homozygous SS heterozygous SC Togo Africa

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Effect of LDL-apheresis on plasma lipids, chitotriosidase and anti-oxLDL antibodies in heterozygous familial hypercholes-terolemia

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Journal of Biomedical Science and Engineering 2009年第7期2卷 499-505页

作者： Maria Musumeci Francesco Pappalardo GianCarlo Tonolo Fernando Torrisi Francesca Gullo Salvatore Musumeci 不详

Forty four consecutive subjects aged 29-58 years (21 males and 23 females) with a clinical diagnosis of heterozygous familial hypercholesterolemia periodically treated every 30 days with LDL-apheresis for statin resistance, were enrolled in this study. A lipid profile was obtained immediately before starting LDL-apheresis, a second profile was obtained within four hours after LDL-apheresis. Chit activity and anti-oxLDL levels were determined with appropriate methods in all patients before and after LDL- apheresis. Total cholesterol, LDL-cholesterol, HDL- cholesterol and triglycerides decreased significantly after LDL-apheresis, while the variations of Chit activity and anti-oxLDL were not significant after LDL-apheresis. The correlation between Chit and total cholesterol was negative (r= –0.44 and –0.50 res- pectively) before and after LDL-apheresis as between Chit and LDL-cholesterol (r= –0.45 and –0.55 respectively). Anti-oxLDL concentration before and after LDL-apheresis positively correlated with Chit activity (r= 0.52 and r = 0.63 respectively), negatively with total cholesterol (r= –0.33 and r = –0.35 res- pectively) and with LDL (r = –0.32 and r = –0.21 respectively). We think that removing LDL with LDL-apheresis the anti-oxLDL/oxLDL ratio could increase and the excess of anti-oxLDL could induce macrophage activation through the surface Fc receptors. Alternatively with high levels of LDL- cholesterol, the deposition of foam cells represent the characteristic evolution of atherosclerosis process. Macrophage activation in the heterozygous familial hypercholesterolemia could represent an attempt for re-modeling the vessel wall, reducing the growth of lipid plaques.

关键词： LDL-Apheresis heterozygous Familial Hyper- Cholesterolemia Lipids Chitotriosidase Anti-oxLDL Anti- bodies Sardinia

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Mesenteric vein thrombosis in a patient heterozygous for factor Ⅴ Leiden and G20210A prothrombin genotypes

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World Journal of Gastroenterology 2013年第43期19卷 7813-7815页

作者： Paras Karmacharya Madan Raj Aryal Anthony Donato Department of Internal Medicine Reading Health SystemWest ReadingPA 19611United States

Mesenteric venous thrombosis(MVT)is a rare but life threatening form of bowel ischemia.It is implicated in 6%-9% of all cases of acute mesenteric ischemia.The proportion of patients with primary(or idiopathic)MVT varies from 0% to 49%,with a decrease in frequency secondary to more recent availability of newer investigations for hypercoagulability.The presence of factor Ⅴ Leiden(FVL)and prothrombin G20210A mutations(PGM)have been well documented in these cases.However,there have been scarce case reports describing MVT in heterozygotes of both these mutations occurring simultaneously and its implications on long term management.Our case describes acute MVT in a previously asymptomatic young patient with no prior history of venous thromboembolism.The patient was found to be heterozygous for FVL and PGM and treated with lifelong anticoagulation with warfarin(goal international normalized ratio:2-3)and avoidance of hormonal contraceptives.

关键词： Mesenteric vein thrombosis Prothrombin gene Factor Ⅴ Leiden heterozygous Anticoagulation Oral contraceptives

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Molecular diagnosis of Down's syndrome

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Chinese Medical Journal 2003年第11期116卷 1773-1775页

作者：王树玉贾婵维任国庆马延敏吕巍丁锋韩健 Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing 100006 China National Research Institute of Family Planning Commission Beijing China (Ding F) Genaco Biomedieal Products Inc. USA

Objective To establish a new diagnostic method for Down's syndrome using polymerase chain reaction (PCR).Methods DNA extracted from five healthy individuals and five Down's syndrome patients was amplified in six specific tetranucleotide repeat loci on chromosome 21 using PCR. An accurate diagnosis was made by analyzing allelic distribution at each locus.Results All Down's syndrome patients were identified as having at least two loci with three alleles, while none of the healthy individuals had three alleles. In addition, when two alleles were identified for a particular locus in the Downs syndrome samples, it was more likely that the intensity ratio between the two alleles was close to 2:1.Conclusion The molecular method can provide a fast, accurate, and economical alternation for the traditional cytogenetic diagnostic method for Down's syndrome.

关键词： down' s syndrome ·diagnosis polymerase chain reaction heterozygous homozygous

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A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family

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International Journal of Ophthalmology(English edition) 2019年第5期12卷 725-730页

作者： Ping-Bo Ouyang Yuan Zhao Ying-Qian Peng Lu-Si Zhang Jian Cao Yun Li Department of Ophthalmology the Second Xiangya Hospital of Central South University Hunan Clinical Research Center of Ophthalmic Disease Department of Cardiovascular Surgery the Second Xiangya Hospital of Central South University

AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome(MFS) phenotype and an unusual bilateral macular degeneration. METHODS: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of FBN1 gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals. RESULTS: In the four-generation family, classic MFS phenotypes were observed in all 5 patients, 2 of them had peculiar phenotype of bilateral macular degeneration. Mutation screening in FBN1 identified a heterozygous missense mutation(c.3932 A>G, p.Y1311 C) with co-segregation. This mutation was found with the MFS phenotypes in all 5 patients but not in unaffected members or unrelated controls. CONCLUSION: A Chinese consanguineous MFS family with uncommon bilateral macular degeneration and an unreported c.3932 A>G mutation in FBN1 was identified. Our finding expands the FBN1 mutation spectrum and its possible role in the pathogenesis of Marfan syndrome.

关键词： Marfan syndrome fibrillin-1 autosomal dominant heterozygous mutation

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Assessment of SNP and InDel Variations Among Rice Lines of Tulaipanji x Ranjit

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Rice science 2017年第6期24卷 336-348页

作者： Subhas Chandra ROY Vijaya Bhasker REDDY LACHAGARI Plant Genetics & Molecular Breeding Laboratory Department of Botany University of North Bengal Siliguri 734013 India AgriGenome Labs Private Limited Hyderabad 500078 India

Genotyping by sequencing(GBS) is the recent approach of next-generation sequencing technique for discovering and genotyping single nucleotide polymorphisms(SNPs) in crop species. Genotypic variation studies(SNPs and insertion-deletions/In Dels) were performed using four rice lines based on GBS data by aligning to the reference genome Nipponbare. Local aromatic rice landrace Tulaipanji was crossed with Ranjit, and two distinct lines were identified from the progenies: one line with awns and aroma traits and the other without awns and aroma. Total number of SNPs and In Dels identified were 52 810 and 4 327 at read depth 10, respectively. Out of the total polymorphic SNPs/In Dels, 16 490 were intergeneric, 7 812 were inside gene, and 4 435 were intronic. Phylogenetically, Tulaipanji was closer to the reference genome nipponbare. Based on recurrent parent genome analysis, out of 10 013 alleles, 92.52% was introgressed into progeny-awn from Tulaipanji and 7.48% from Ranjit, whereas progeny-awnless carried 89.19% alleles from Ranjit and only 10.81% alleles from Tulaipanji. In addition, progeny-awn was the highest heterozygous(83.88%) and progeny-awnless was the least(2.24%) at this fifth generation of recombinant inbred lines. These SNP variations may be linked to the phenotypic traits and can be utilized in crop improvement through linkage mapping. These results suggest that adding a high density of SNP markers to a mapping or breeding population through GBS has a great value for numerous applications in rice breeding and genetics research.

关键词： rice genotyping by sequencing insertion-deletion genomic introgression single nucleotide polymorphism awn aroma heterozygous

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Advantages and limitations of the parthenogenetic embryonic stem cells in cell therapy

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Journal of Reproduction and Contraception 2016年第2期27卷 118-124页

作者： Zhao-yang YU Bao-sheng HAN North China University of Science and Technology Department of Reproduction and Genetics Maternity and Child Health Care HospitalTangshan

Parthenogenetic embryonic stem cells（pE SCs）, as ＂seed cells＂ for regenerative medicine, are an effective way to build patient-specific pluripotent stem cells, due to the fact that characteristics of self-renewal and pluripotent are similar to embryonic stem cells（ESCs）. Parthenogenetic activation can be performed at meiosis I or meiosis II describing the embryos with distinct patterns of homozygosity and heterozygosity.heterozygous pE SCs are expected to be used for autologous transplantation, while homozygous pE SCs enable to be used for allogeneic gene therapy in theory but is hampered by immunological barriers defined by the recognition of natural killer（NK）cells. In this review, we describe the mechanism of deriving heterozygous and homozygous pE SCs, and summarize the advantages and limitations of pE SCs in the area of cell therapy.

关键词： parthenogenetic embryonic stem cells（pESCs） heterozygous homozygous advantages and limitations cell therapy

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