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Classification of osteogenesis imperfecta:Importance for prophylaxis and genetic counseling

World Journal of Clinical Cases 2023年第12期11卷 2604-2620页

作者： Monica-Cristina Panzaru Andreea Florea Lavinia Caba Eusebiu Vlad Gorduza Department of Medical genetics Faculty of Medicine“Grigore T.Popa”University of Medicine and PharmacyIasi 700115Romania Department of Medical genetics-Medical genetics resident “Grigore T.Popa”University of Medicine and PharmacyIasi 700115Romania

Osteogenesis imperfecta(OI)is a genetically heterogeneous monogenic disease characterized by decreased bone mass,bone fragility,and recurrent *** phenotypic spectrum varies considerably ranging from prenatal fractures with lethal outcomes to mild forms with few fractures and normal *** basic mechanism is a collagen-related defect,not only in synthesis but also in folding,processing,bone mineralization,or osteoblast *** recent years,great progress has been made in identifying new genes and molecular mechanisms underlying *** this context,the classification of OI has been revised several times and different types are *** Sillence classification,based on clinical and radiological characteristics,is currently used as a grading of clinical *** on the metabolic pathway,the functional classification allows identifying regulatory elements and targeting specific therapeutic *** classification has the advantage of identifying the inheritance pattern,an essential element for genetic counseling and *** genotype-phenotype correlations may sometimes be challenging,genetic diagnosis allows a personalized management strategy,accurate family planning,and pregnancy management decisions including options for mode of delivery,or early antenatal OI *** research on molecular pathways and pathogenic variants involved could lead to the development of genotype-based therapeutic *** narrative review summarizes our current understanding of genes,molecular mechanisms involved in OI,classifications,and their utility in prophylaxis.

关键词： Osteogenesis imperfecta Heterogeneity Classification Molecular mechanism genetic counseling Prophylaxis

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2+0 CYP21A2 deletion carrier—a limitation of the genetic testing and counseling:A case report

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World Journal of Clinical Cases 2021年第23期9卷 6789-6797页

作者： Na Xi Xiao Song Xue-Yan Wang Sheng-Fang Qin Guan-Nan He Ling-Ling Sun Xi-Min Chen Department of Medical genetics and Prenatal Diagnosis Sichuan Provincial Hospital for Women and ChildrenChengdu 610045Sichuan ProvinceChina Department of Ultrasound Sichuan Provincial Hospital for Women and ChildrenChengdu 610045Sichuan ProvinceChina

BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical *** families with CAH children,genetic testing of the parents and genetic counseling are recommended to assess the risk of *** SUMMARY We report a case of CAH with a high suspicion before *** risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing *** report confirmed a CYP21A2 homozygous deletion in this case,CYP21A2 heterozygous deletion in the mother,and a rare 2+0 CYP21A2 deletion in the *** It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH.

关键词： CYP21A2 gene mutations Congenital adrenal hyperplasia Pregnancy genetic counseling genetic testing Pathogenic point mutations Alleles

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Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1532-1546页

作者： Jin Liu Si-Cong Zeng An Wang Hai-Ying Cheng Qian-Jun Zhang Guang-Xiu Lu Hunan Guangxiu Hospital Hunan Normal UniversityChangsha 410000Hunan ProvinceChina Scientific Research Department Reproductive and Genetic Hospital of Citic-XiangyaChangsha 410000Hunan ProvinceChina

BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene *** genetic testing can protect a patient’s offspring from mutated genes;however,some variations in this gene have been interpreted as variants of uncertain significance(VUS),which complicate reproductive decision-making in genetic *** To identify the pathogenicity of two missense variants and provide clinical *** Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and genetic Hospital of *** was employed to predict the protein structure,conservation,and pathogenicity of the two missense variation sites in patients with ***,plasmids were constructed and transfected into HeLa cells to observe cell *** differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and *** analysis was performed using one-way analysis of variance.PG(***297Gly)and c.733C>T(***245Phe)]in 9 unrelated PJS families who were seeking reproductive *** two missense VUS were located in the catalytic domain of serine/threonine kinase,which is a key structure of the liver kinase B1(LKB1)*** vitro experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase(AMPK)at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type *** addition,the two missense STK11 variants promoted the proliferation of HeLa *** immunohistochemical analysis showed that phosphorylated-AMPK(Thr172)expression was significantly lower in gastric,colonic,and uterine polyps from PJS patients with misse

关键词： Missense STK11 Peutz-Jeghers syndrome Rare disease genetic counseling Assisted reproductive technique

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Evaluating chromosomal segregation in a family where both spouses carry an autosomal translocation

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Reproductive and Developmental Medicine 2023年第3期7卷 189-192页

作者： Irina L.Puppo Ziravard N.Tonyan Alsu F.Saifitdinova Julia A.Loginova Anna A.Kinunen Alisa N.Panina Julia R.Pastuhova Olga A.Leonteva Olga G.Chiryaeva Olga V.Malysheva Oleg S.Glotov Irina V.Poliakova Andrey V.Tikhonove Tatyana V.Vavilova Irina L.Menshikova Elvira V.Isakova Andrey S.Glotov Natalya K.Bichevaya International Centre for Reproductive Medicine Saint-Petersburg 197350Russia Department of Laboratory Medicine and genetics Almazov National Medical Research CentreSaint-Petersburg197341Russia Department of Genomic Medicine D.O.Ott's Institute of ObstetricsGynecologyand ReproductologySaint-Petersburg 199034Russia Department of Biology.Herzen State Pedagogical University of Russia Saint-Petersburg 191186Russia DiaCarta Inc.2600 Hilltop DriveRichmondCA 94806 St.Petersburg Centre for Medical genetics Saint Petersburg194044Russia Department of ExperimentalMedical Virology MolecularGenetics and Biobankingof Pediatric Researchand Clinical Center for Infectious DiseasesSaint-Petersburg 197022Russia Medical institute of Surgut State University Surgut 628403 Russia CerbaLab Ltd. Saint-Petersburg 199106Russia

Autosomal reciprocal translocations represent exchanges of chromatin fragments between non-homologous *** are facilitated by the creation of quadrivalent structures during the first meiotic division,which are characterized by the length of the translocated and centric segments,asymmetry,and the presence of terminal breakpoints,all of which may impact segregation ***,we report a rare case of multiple reciprocal translocations within a single *** includes the evaluation of the translocations in each of the spouses and an analysis of their chromosome segregation patterns as determined by the constellation of universal characteristics in each of their *** obtained results will be of interest to fundamental biology,as they will expand the understanding of the factors affecting chromosome segregation during meiosis.

关键词： Embryo viability genetic counseling Pre-implantation genetic testing Quadrivalent characteristics

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New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy： A Retrospective Analysis of 178 Patients

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Chinese Medical Journal 2015年第13期128卷 1707-1713页

作者： Feng Lin Zhi-Qiang Wang Min-Ting Lin Shen-Xing Murong Ning Wang Department of Neurology and Institute of Neurology First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China

Background： Facioscapulohumeral muscular dystrophy （FSHD）, a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling. Methods： Here, a cohort of[36 Chinese families including 178 affected individuals and 137 unaffected members were investigated. genetic analyses were pertbrmed using the pl 3E-11, 4qA and 4qB probes after pulsed field gel electrophoresis separation and southern blotting. A I 0-grade FSHD clinical severity scale was adopted for clinical assessment. The genotype-phenotype correlation was established by linear regression analyses. Results： We observed a roughly inversed correlation between the short EcoRl fragment size and age-corrected clinical severity score in 154 symptomatic patients （P 〈 0.05）. Compared to male patients, a significant higher proportion of females in both asymptomatic carriers and severe patients showed larger variation in the size of short EcoRI fragment. A high incidence （ 19/42, 45.2%） ofasymptomatic （or minimally affected） carriers was found in familial members. Conclusions： Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation, a rnajority ofphenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat, especial in female cases. Our resuhs suggest that there are multi-factors synergistically modulating the phenotypic expression.

关键词： Asymptomatic Facio-scapulohumeral Muscular Dystrophy genetic counseling Phenotype

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Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in China's Mainland A case report

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Neural Regeneration Research 2011年第26期6卷 2047-2049页

作者： Lifang Lei Junling Wang Shen Zhang Hong Jiang Lu Shen Qian Xu Xinxiang Yan Yi Yuan Qian Pan Kun Xia Beisha Tang Department of Neurology Xiangya Hospital Central South University Changsha 410008 Hunan Province China Department of Neurology Xian-gya Third Hospital Central South University -Changsha 410013 Hunan Province China National Laboratory of Medical genetics of China Changsha 410008 Hunan Province China

Spinocerebellar ataxia type 3/Machado-Joseph disease （SCA3/MJD） is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in China's Mainland in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.

关键词： prenatal diagnosis spinocerebellar ataxia type 3/Machado-Joseph disease CAG-trinucleotide repeats genetic counseling

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Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature

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World Journal of Clinical Cases 2020年第1期8卷 222-233页

作者： Yun-Chun Chen Xu-Ning Huang Chang-Ying Kong Jian-Dong Hu Department of Laboratory Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina Department of Ultrasound Medicine Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina Department of Gynecology Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina Department of Internal Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina

BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal *** the genetic substance with balanced translocation in individuals does not change,which is usually characterized by normal phenotype and intelligence,the individuals seek medical service after many miscarriages,resulting in considerable mental and physical burdens of the family *** the current era with rapid advances in detection technology,cytogenetic examination,as a definitive approach,still plays an essential *** SUMMARY We report six cases with balanced chromosome translocation:Case 1:46,XY,t(3;12)(q27;q24.1),infertility after 3 years of marriage;Case 2:46,XX,t(4;16)(q31;q12),small uterus and irregular menstruation;Case 3:46,XY,t(4;5)(q33;q13),9qh+,not pregnant after arrested fetal development;Case 4:46,XX,t(11;17)(q13;p11.2),not pregnant after two times of spontaneous abortion;Case 5:46,XX,t(10;13)(q24;q21.2),not pregnant after arrested fetal development for once;Case 6:46,XX,t(1;4)(p36.1;q31.1),not pregnant after arrested fetal development for two *** first four cases had chromosomal aberration *** These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal *** discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.

关键词： Reproductive risk Balanced translocation Abnormal pregnancy genetic counseling Case report

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Prenatal Testing or Screening?

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Maternal-Fetal Medicine 2020年第4期2卷 217-222页

作者： Evans Mark I. Evans Shara M. Fetal Medicine Foundation of America New YorkNY 10065USA Comprehensive genetics New YorkNY 10065USA Department of Obstetrics&Gynecology Icahn School of Medicine at Mt.SinaiNew YorkNY 10029USA Department of Maternal Child Health Gillings School of Public Health University of North Carolina at Chapel HillChapel HillNY 27599USA

Over the past 50 years,the scope and extent of prenatal diagnosis and screening for genetic disorders have improved *** has been a pendulum like swing from testing to screening back and forth as new technologies *** concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards ***,with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures(Chorionic villus sampling and amniocentesis),much more extensive diagnosis can be *** noninvasive methods can replicate what can be done with diagnostic procedures there still will be a"price to be paid"for opting for the non-invasive methods.

关键词： genetic counseling Prenatal diagnosis Chorionic villus sampling Amniocentesis Array comparative genomic hybridization Noninvasive prenatal testing

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Renal Tubular Dysgenesis Associated with Compound Heterozygous ACE Mutations

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Journal of Clinical and Nursing Research 2021年第2期5卷 108-112页

作者： Yiran Liu Xueyan Wang Chongqing Health Center for Women and Children 120 LongShan RoadYubei DistrictChongqing 401147China

Inherited renal tubular dysgenesis(RTD),a rare,autosomal recessive disorder is caused by mutations in the genes encoding components of the renin-angiotensin pathway:angiotensinogen(AGT),renin(REN),angiotensin-converting enzyme(ACE),and angiotensinΙΙreceptor type 1(AGTR1).It characterized by the absence or poor development of renal tubules,and associated with oligohydramnios,Potter sequence and neonatal death due to renal or respiratory *** report a family with two mutations in the coding region of the ACE gene:a nonsense mutation in exon4(c.538C>T)and a frameshift deletion at nucleotide 3073 and nucleotide 3074 in exon20(c.3073_3074delTC).The mutations were in the compound heterozygous state causing disease,because each parent had their own mutation.

关键词： genetic counseling Oligohydramnios Prenatal diagnosis

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