1.Ethical Guidelines on Fetal Mesencephalic Transplantation.
Journal of Korean Neurosurgical Society 1994;23(3):295-298
Research or therapy involving human fetal tissue has been subject of intense political and ethical debate in many country for almost two decades. Especially, Transplantation of cells or tissues from aborted fetuses to treat Parkinson's disease shows great clinical promise but it has some ethical or legal controversy. We can expect that demand of fetal brain tissue is increased explosively near future. So we have to establish our own eithical guidelines urgently. In this article authors report several basic medical or ethical issues which the fetal mesencephalic transplantation brings up inevitably and suggest our own ethical guidelines.
Aborted Fetus
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Brain
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Ethics
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Fetus
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Humans
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Parkinson Disease
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Transplantation
2.A Case of Thanatophoric Dwarfism.
Hyoung Woo PARK ; Dong Won AHN
Korean Journal of Physical Anthropology 1989;2(1):61-65
A case of thanatophoric dwarfism is presented. The previous gestation was polyhydramniotic and aborted spontaneously at 19th week. The aborted fetus showed marked micromelia. Present gestation was also polyhydramniotic and terminated by therapeutic abortion at 31th weeks due to skeletal deformity representing thanatophoric dwarfism. The fetus shows typical characteristics of thanatophoric dwarfism. Grossly the fetus shows marked micromelia, narrowed thorax with relatively normal length of trunk, and enlarged head. In the radiograph the femur shows characteristic ‘ telephone receiver’-like form. And the histological observations shows marked disturbances of the endochondral ossification.
Aborted Fetus
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Abortion, Therapeutic
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Congenital Abnormalities
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Female
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Femur
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Fetus
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Head
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Pregnancy
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Telephone
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Thanatophoric Dysplasia*
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Thorax
3.The Associtation between Methylenetetrahydrofolate Reductase Gene Polymorphisms and a Risk of Spontaneously Aborted Embryos.
Nick Beom JEON ; Seung Il JI ; Seung Joo SHIN ; Sun Hee CHA ; Dong Hee CHOI ; Dong Jin YIM ; Sang Hee PARK ; Suman LEE ; Sang Hwa LEE ; Jung Jae KO ; Nam Keun KIM
Korean Journal of Fertility and Sterility 2006;33(1):61-68
OBJECTIVE: This study was performed to understand the influence of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotypes on the spontaneously aborted embryos. METHODS: DNA was extracted from tissue samples of 95 spontaneously aborted embryos and 100 samples of normal children randomly and 449 samples of normal adults were selected as the controls. MTHFR genotypes were determined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. RESULTS: The aborted embryo group had higher frequency of MTHFR 677CC type (p=0.014) and lower 677CT type (p=0.063) than the controlled child group. The frequency of MTHFR 677CT type was drastically lower than that of controlled adult group (p=0.032). In the MTHFR C677T/A1298C combination, 677CC/1298AC genotype of the aborted embryo was significantly higher (p=0.034) than that of controlled child group, but it was not statistically significant in controlled adult group (p=0.063). CONCLUSION: MTHFR 677CC and MTHFR 677CC/1298AC genotypes may represent genetic markers for the risk of spontaneously aborted embryos at least in Koreans.
Aborted Fetus*
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Adult
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Child
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DNA
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Genetic Markers
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Genotype
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Homocysteine
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Humans
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Methylenetetrahydrofolate Reductase (NADPH2)*
4.Rapid detection of chromosome number aberration in spontaneously aborted fetuses using fluorescence in situ hybridization.
Lan-lin SONG ; Li XIONG ; Si-ping LIU ; Jie LIU ; Mei ZHONG ; Yun-fei GAO ; Rui-feng WU ; Yan-hong YU
Journal of Southern Medical University 2011;31(9):1605-1607
OBJECTIVETo assess the value of fluorescence in situ hybridization (FISH) in the diagnosis of common chromosome number aberration in spontaneously aborted fetuses.
METHODA total of 100 spontaneously aborted fetuses were analyzed by G-banding and by FISH to test chromosome number aberration mainly for chromosomes 13, 18, 21, X and Y, and the results of FISH test was assessed according to those by G-banding test.
RESULTSFISH results were well consistent with those by G-banding test. FISH test identified trisomy in 32 samples and polyploidy in 7 samples. Two samples with cell culture failure were found to have trisomy 16 by FISH. Discrepancies in the results between the two tests occurred in 3 samples, but the results of FISH were verified by other methods. Kappa test between FISH technology and G-banding showed a good consistency between FISH and karyotyping (P<0.05).
CONCLUSIONFISH is an effective and rapid method for detecting chromosome number aberration in spontaneously aborted fetuses, and the combination of FISH and karyotyping provides more reliable diagnostic evidence.
Aborted Fetus ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Pregnancy
5.Detection and genetic characterization of porcine circovirus 3 from aborted fetuses and pigs with respiratory disease in Korea
Seong Hee KIM ; Ji Young PARK ; Ji Youl JUNG ; Ha Young KIM ; Yu Ri PARK ; Kyoung Ki LEE ; Young S LYOO ; Sang Geon YEO ; Choi Kyu PARK
Journal of Veterinary Science 2018;19(5):721-724
A novel porcine circovirus 3 (PCV3) was first detected in pigs showing porcine dermatitis and nephropathy syndrome, reproductive failure, and multisystemic inflammation in the USA. Herein, we report on PCV3 as a potential etiological agent of clinical signs, reproductive failure and respiratory distress on Korean pig farms, based on in situ hybridization, pathological, and molecular findings. Confirmation of the presence of PCV3 may increase co-infection with other causative agents of disease in Korean pig herds, indicating the need for further systemic investigation of pathogenicity and of multiple infections with PCV2 genotypes and bacteria, and the development of an effective PCV3 vaccine.
Aborted Fetus
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Agriculture
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Bacteria
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Circovirus
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Coinfection
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Dermatitis
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Genotype
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In Situ Hybridization
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Inflammation
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Korea
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Swine
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Virulence
6.Diagnosis of canine brucellosis using recombinant ribosomal protein L7/L12.
Hyang Keun LEE ; Jong Wan KIM ; Yun Mi HA ; Moon HER ; Ji Yeon KIM ; Kichan LEE ; Sung Il KANG ; Suk Chan JUNG
Korean Journal of Veterinary Research 2012;52(1):25-31
Brucella (B.) canis is mainly transmitted by direct or indirect contact with aborted fetuses and placenta. It's also known to be able to infect human, which likely results in providing veterinarians and companion animal owners for infectious risk. To develop diagnostic ELISA, we cloned and expressed rp1L gene of B. canis, which encodes the ribosomal protein L7/L12. Using this purified recombinant protein, indirect-ELISA (iELISA) was evaluated using 78 positive and 44 negative sera. The sensitivity and the specificity of iELISA were 94% and 89%, respectively. The results indicated that indirect-ELISA using recombinant ribosomal protein L7/L12 may be useful for diagnosis of canine brucellosis.
Aborted Fetus
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Brucella
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Brucella canis
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Brucellosis
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Clone Cells
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Enzyme-Linked Immunosorbent Assay
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Humans
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Pets
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Placenta
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Ribosomal Proteins
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Sensitivity and Specificity
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Veterinarians
7.First detection and genetic characterization of porcine parvovirus 7 from Korean domestic pig farms
In Ohk OUH ; Seyeon PARK ; Ju Yeon LEE ; Jae Young SONG ; In Soo CHO ; Hye Ryung KIM ; Choi Kyu PARK
Journal of Veterinary Science 2018;19(6):855-857
Porcine parvovirus 7 (PPV7) was first detected in Korean pig farms in 2017. The detection rate of PPV7 DNA was 24.0% (30/125) in aborted pig fetuses and 74.9% (262/350) in finishing pigs, suggesting that PPV7 has circulated among Korean domestic pig farms. Phylogenetic analysis based on capsid protein amino acid sequences demonstrated that the nine isolated Korean strains (PPV-KA1-3 and PPV-KF1-6) were closely related to the previously reported USA and Chinese PPV7 strains. In addition, the Korean strains exhibit genetic diversity with both insertion and deletion mutations. This study contributes to the understanding of the molecular epidemiology of PPV7 in Korea.
Aborted Fetus
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Agriculture
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Amino Acid Sequence
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Asian Continental Ancestry Group
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Capsid Proteins
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DNA
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Fetus
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Genetic Variation
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Humans
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Korea
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Molecular Epidemiology
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Parvovirus, Porcine
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Sequence Deletion
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Sus scrofa
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Swine
8.Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene.
Li'na ZENG ; Li LIN ; Yan ZHANG ; Kun LIN ; Qing XU ; Congshan LIN
Chinese Journal of Medical Genetics 2023;40(7):802-806
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree affected with recurrent fetal hydrocephalus.
METHODS:
A couple who had presented at the Affiliated Hospital of Putian College on March 3, 2021 was selected as the study subject. Following elective abortion, fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple, and were subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.
RESULTS:
The fetus was found to harbor compound heterozygous variants of the B3GALNT2 gene, namely c.261-2A>G and c.536T>C (p.Leu179Pro), which were inherited from its father and mother, respectively.According to the guidelines of American College of Medical Genetics and Genomics, both variants were classified as pathogenic (PVS1+PM2_Supporting; PM3+PM2_Supporting+PP3+PP4).
CONCLUSION
The compound heterozygous variants of the B3GALNT2 gene probably underlay the α-dystroglycanopathy in this fetus. Above results have provided a basis for genetic counseling of this pedigree.
Female
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Humans
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Pregnancy
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Aborted Fetus
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Asian People/genetics*
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East Asian People
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Fetus
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Genetic Counseling
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Mutation
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N-Acetylgalactosaminyltransferases
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Pedigree
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Walker-Warburg Syndrome/genetics*
9.Study on the relationship between epidermal stem cells and the developing process of sweat gland in human fetal skin.
Jianfu LI ; Xiaobing FU ; Zhiyong SHENG
Chinese Journal of Burns 2002;18(6):369-371
OBJECTIVETo explore the relationship between epidermal stem cells and the developing process of sweat gland in human fetal skin, so as to obtain a hint for future induction of epidermal stem cells to differentiate into sweat gland cells.
METHODSTotal layer of human skin from the back of fetus at gestational ages from 11 to 31 weeks, obtained from spontaneous abortion was routinely examined. The expressions of beta1 integrin and keratin 19 in sweat gland cords or buds and mature sweat gland cells were dynamically observed with SP immunohistochemical technique. The development and maturation of sweat gland were identified by the positive staining of keratin 8 with immunohistochemistry.
RESULTSIt was revealed by histologic observation that basal layer cells of the primary epidermal ridge exhibited focal aggregation and formed hillocks at 16 gestational weeks. The hillocks of cells then migrated downward as cords into the dermis during 18 - 20 gestational weeks. Then, the end part of the cell cord developed into a round lump of twining cords assuming the mature sweat gland. The expressions of beta1 integrin and keratin 19 were found not only in sweat gland cords and buds but also in the mature cells and lasted throughout the total period of sweat gland development. The expression of keratin 8 in sweat gland buds started since 14 - 16 gestational weeks and maintained thereafter.
CONCLUSIONThe sweat gland started to develop during 14 - 16 gestational weeks and matured at 24 weeks. During the development process of sweat gland, epidermal stem cells were considered to be the key source.
Aborted Fetus ; Epidermis ; chemistry ; cytology ; embryology ; Humans ; Immunohistochemistry ; Integrin beta1 ; analysis ; Keratin-8 ; Keratins ; analysis ; Skin ; chemistry ; embryology ; Stem Cells ; chemistry ; cytology ; Sweat Glands ; chemistry ; embryology
10.Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome.
Gang HU ; Bei LIU ; Min CHEN ; Yeqing QIAN ; Minyue DONG
Journal of Zhejiang University. Medical sciences 2020;49(5):581-585
OBJECTIVE:
To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).
METHODS:
The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.
RESULTS:
The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a
CONCLUSIONS
The
Aborted Fetus/physiopathology*
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Adult
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Eyelashes/pathology*
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Female
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Forkhead Transcription Factors/genetics*
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Frameshift Mutation
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Humans
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Lymphedema/pathology*
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Male
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Phenotype
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Pregnancy
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Whole Exome Sequencing