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1.
Chinese Journal of Medical Genetics ; (6): 802-806, 2023.
Article in Chinese | WPRIM | ID: wpr-981826

ABSTRACT

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.


Subject(s)
Female , Humans , Pregnancy , Aborted Fetus , Asian People/genetics , East Asian People , Fetus , Genetic Counseling , Mutation , N-Acetylgalactosaminyltransferases , Pedigree , Walker-Warburg Syndrome/genetics
2.
Arq. bras. med. vet. zootec. (Online) ; 72(4): 1381-1385, July-Aug. 2020. ilus
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1131482

ABSTRACT

O abortamento na espécie equina é responsável por grandes perdas econômicas e, entre as possíveis causas, está a neosporose, uma enfermidade que nem sempre é investigada como provável diagnóstico. Assim, o objetivo deste trabalho foi relatar um caso de aborto equino aos 129 dias de gestação, resultante da infecção por Neospora spp.. Amostras sanguíneas da égua e do feto abortado foram enviadas para um laboratório especializado. À necrópsia, constatou-se edema gelatinoso e hemorrágico em subcutâneo, fígado ictérico e friável com autólise de alguns órgãos, como baço, rins e glândulas adrenais. Fragmentos dos órgãos coletados na necrópsia foram submetidos à histopatologia e à pesquisa de agentes infecciosos, em que se identificou hepatite e epicardite não purulentas e onfalite purulenta, bem como exame positivo para Neospora spp. pela técnica de reação em cadeia da polimerase (PCR) convencional e Nested. O soro sanguíneo obtido da égua foi submetido à pesquisa de Neospora spp. pela técnica de imunofluorescência indireta, de herpesvírus por soroneutralização em cultura de células e de Leptospira sp. por PCR, todas com resultados negativos. Dessa forma, é importante considerar a neosporose como diagnóstico diferencial em casos de abortamento e natimortalidade, uma vez que a presença de cães nas propriedades é extremamente comum, representando uma importante fonte de infecção.(AU)


Abortion in the equine species is responsible for major economic losses, and among the possible causes is neosporosis, a disease that is not always investigated as a probable diagnosis. Thus, the objective of this study was to report an abortion at 129 days of gestation resulting from Neospora spp. Blood samples from the mare and the aborted fetus were sent to a specialized laboratory. Under necropsy, gelatinous and hemorrhagic edema was detected in subcutaneous tissue, friable and jaundiced liver with autolysis in spleen, kidneys and adrenal glands. Fragments of the organs collected at necropsy were submitted to histopathology and infectious agent tests, which identified non-purulent hepatitis and epicarditis and purulent omphalitis. Also, a positive result for Neospora spp. by the conventional and nested Polymerase Chain Reaction (PCR) technique. Blood serum obtained from the mare was subjected to analyses to Neospora spp. by indirect immunofluorescence technique, herpesvirus by serum neutralization in cell culture and Leptospira sp. by PCR, all with negative results. Thus, it is important to consider neosporosis as a differential diagnosis in cases of abortion and stillbirth, since the presence of dogs in the properties is extremely common and represent an important source of infection.(AU)


Subject(s)
Animals , Female , Neospora/isolation & purification , Abortion, Veterinary/diagnosis , Aborted Fetus/microbiology , Horses/microbiology , Polymerase Chain Reaction/veterinary
3.
Journal of Zhejiang University. Medical sciences ; (6): 581-585, 2020.
Article in Chinese | WPRIM | ID: wpr-879915

ABSTRACT

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


Subject(s)
Adult , Female , Humans , Male , Pregnancy , Aborted Fetus/physiopathology , Eyelashes/pathology , Forkhead Transcription Factors/genetics , Frameshift Mutation , Lymphedema/pathology , Phenotype , Exome Sequencing
4.
Arq. Inst. Biol ; 87: e0092020, 2020. tab
Article in English | VETINDEX, LILACS | ID: biblio-1121090

ABSTRACT

Abortion and complications in reproduction are important causes of economic loss in horse breeding. Studies of its causal agents can help to identify the primary pathogens or other factors involved and define appropriate measures to reduce its occurrence. This research aimed to investigate the primary causes of equine abortion, stillbirth, and perinatal mortality in regions of Brazil. Tissue from aborted fetuses, stillbirths, neonates and foals submitted to the Biological Institute of São Paulo, Brazil, from January 2010 to July 2013 were processed for viral and bacterial isolation, polymerase chain reaction (PCR), histology, and immunohistochemistry. Bacterial infection was the primary detected cause of abortion, found in 16 of the 53 animals submitted for bacterial analysis followed by viruses analysis in 2 of 105 animals, and noninfectious causes (neonatal isoerythrolysis) in 2 of 105 animals. Fungi were found in a single sample of 53 tested. The most frequent bacteria recovered were Escherichia coli, Enterobacter aerogenes, combined E. coli and Streptococcus spp., Staphylococcus spp., and Bacillus spp. The following agents were each observed in a single sample: Arcanobacterium pyogenes, Streptococcus spp., Corynebacterium spp., Actinobacillus spp., and Rhodococcus equi. The predominant identification of fecal and other opportunistic bacteria as opposed to pathogens commonly associated with equine abortion, such as Leptospira spp. and equine herpesvirus type 1 (EHV-1), suggests the need of improving hygiene management of breeding mares to prevent bacterial infection that may cause fetal loss, stillbirth, and perinatal mortality.(AU)


Abortamento e complicações na reprodução são importantes causas de perda econômica na equideocultura. Estudos dos agentes causais podem ajudar a identificar patógenos ou outros fatores envolvidos e definir medidas apropriadas para reduzir sua ocorrência. Esta pesquisa investigou as causas primárias de aborto, natimortalidade e mortalidade perinatal em equinos de diversas regiões do Brasil. Tecidos de fetos abortados, natimortos e potros submetidos ao Instituto Biológico de São Paulo, Brasil, no período de janeiro de 2010 a julho de 2013, foram processados por meio de técnicas de isolamento viral e bacteriano, PCR, histologia e imuno-histoquímica. Infecção bacteriana foi a causa mais detectada, encontrada em 16 de 53 amostras submetidas à análise bacteriana, seguida de causa viral em 2 de 105 amostras, e causas não infecciosas (isoeritrólise neonatal) em 2 de 105 amostras. Fungo foi encontrado em uma única amostra de 53 testadas. As bactérias isoladas mais frequentemente foram Escherichia coli, Enterobacter aerogenes, E. coli associada a Streptococcus spp., Staphylococcus spp. associado a Bacillus spp. Os seguintes agentes foram observados em uma única amostra cada: Arcanobacterium pyogenes, Streptococcus spp., Corynebacterium spp., Actinobacillus spp. e Rhodococcus equi. A identificação predominante de bactérias fecais e outras bactérias oportunistas, ao invés de outros patógenos comumente associados a quadros de abortamento equino, tais como Leptospira spp. e Herpesvírus equino tipo 1, sugere a necessidade de maior atenção no manejo higiênico das éguas em reprodução, a fim de prevenir infecções bacterianas que possam causar perda fetal, natimortalidade e mortalidade perinatal.(AU)


Subject(s)
Animals , Female , Pregnancy , Bacterial Infections/complications , Abortion, Veterinary/etiology , Horses , Staphylococcus/isolation & purification , Streptococcus/isolation & purification , Bacterial Infections/diagnosis , Brazil , Virus Diseases/complications , Virus Diseases/diagnosis , Immunohistochemistry , Polymerase Chain Reaction , Cause of Death , Enterobacter aerogenes/isolation & purification , Abortion, Veterinary/mortality , Aborted Fetus , Escherichia coli/isolation & purification , Mycoses/complications , Mycoses/diagnosis
5.
Pesqui. vet. bras ; 39(1): 12-19, Jan. 2019. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-990240

ABSTRACT

Bovine abortion is an important cause of significant economic losses in beef and dairy herds. This syndrome is usually difficult to diagnose. The aim of this study was to characterize bovine abortion causes in Argentina by standard diagnosis procedures (histology, bacterial and viral isolation) and other diagnostic tests like direct fluorescent antibody test (DFAT), fetal serology, immunohistochemistry (IHC), and PCR, showing their specific advantages and limitations. Necropsies were performed in 150 aborted bovine fetuses submitted to the diagnostic laboratories of Instituto Nacional de Tecnología Agropecuaria (INTA) Balcarce, Argentina. Etiological diagnosis was confirmed in 78 fetuses (52% of the cases). Most causes of abortion were of infectious origin, being Neospora caninum (14.67%), Campylobacter fetus sp. (9.33%), Leptospira spp. (7.33%) and Brucella abortus (6.65%) the main microorganisms identified. Bovine viral diarrhea virus (BVDV) and bovine herpes virus (BHV) were diagnosed in 2 (1.33%) and 3 (2%) cases, respectively. This study showed a better characterization of bovine abortion compared with previous researches done on this topic.(AU)


O aborto bovino é uma causa importante de perdas econômicas significativas em rebanhos bovinos e leiteiros. Esta síndrome é geralmente difícil de diagnosticar. O objetivo deste estudo foi caracterizar o aborto bovino na Argentina por procedimentos diagnósticos de rotina (histologia, isolamento viral e bacteriana) e outros testes diagnósticos como ensaio directo de anticorpos fluorescentes (DFAT), sorologia fetal, imuno-histoquica (IHC), e PCR; mostrando suas vantagens e limitações específicas. As necropsias foram realizadas em 150 fetos bovinos abortados submetidos aos laboratórios de diagnóstico do Instituto Nacional de Tecnologia Agropecuária (INTA) de Balcarce, na Argentina. O diagnóstico etiológico foi confirmado em 78 fetos (52% dos casos). A maioria das causas de aborto foram de origem infecciosa, sendo Neospora caninum (14,67%), Campylobacter fetus sp. (9,33%), Leptospira spp. (7,33%) e Brucella abortus (6,65%) os principais microrganismos identificados. O vírus da diarréia viral bovina (BVDV) e o herpesvírus bovino (BHV) foram diagnosticados em 2 (1,33%) e 3 (2%) casos, respectivamente. Este estudo mostrou uma melhor caracterização do aborto bovino em comparação com pesquisas anteriores feita sobre este tema.(AU)


Subject(s)
Animals , Cattle , Argentina , Cattle , Abortion, Veterinary/diagnosis , Abortion, Veterinary/etiology , Aborted Fetus/pathology , Livestock Industry
6.
Neonatal Medicine ; : 1-16, 2019.
Article in Korean | WPRIM | ID: wpr-741669

ABSTRACT

Neonatal hypoxic-ischemic (HI) brain injury is a major cause of neonatal mortality and long-term neurodevelopmental disabilities. Although promising neuroprotective interventions have been studied, the current management of HI brain injury has been limited to supportive measures and induced hypothermia. In addition to engrafting, migrating toward the damage sites and differentiating into multiple lineages, multipotent neural stem/progenitor cells (NSPCs) also provide trophic/immunomodulatory factors and integrate into the host neurons upon implantation into an HI-injured brain. However, NSPC-based therapies have shown poor cell survival and integration, poor differentiation or restricted differentiation into the glial lineages. Furthermore, to achieve full functional recovery following brain injury, the optimization of cell therapy is needed to recapitulate the precise migration of stem cells to the region of interest and the neural rewiring present in the brain microenvironment. Therefore, the efficacy of NSPCs in the treatment of CNS injury is currently insufficient. Human NSPCs (hNSPCs) were isolated from the forebrain of an aborted fetus at 13 weeks of gestation with full parental consent and the approval of the Institutional Review Board of the Yonsei University College of Medicine. Here, to enhance the regenerative ability of hNSPCs in HI brain injury, cells were either pretreated with pharmacological agents or engineered to serve as vehicles for gene delivery. Furthermore, when combined with a poly (glycolic acid)-based synthetic scaffold, hNSPCs provide a more versatile treatment for neonatal HI brain injury. Finally, hNSPCs transfected with zinc-doped ferrite magnetic nanoparticles for controlling both cell migration and differentiation offer a simple and smart tool for cell-based therapies.


Subject(s)
Humans , Infant , Pregnancy , Aborted Fetus , Brain Injuries , Brain , Cell Movement , Cell Survival , Cell- and Tissue-Based Therapy , Ethics Committees, Research , Genetic Therapy , Hypothermia, Induced , Hypoxia-Ischemia, Brain , Infant Mortality , Nanoparticles , Neural Stem Cells , Neurons , Parental Consent , Prosencephalon , Stem Cells , Translational Research, Biomedical
7.
Journal of Veterinary Science ; : 855-857, 2018.
Article in English | WPRIM | ID: wpr-758859

ABSTRACT

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.


Subject(s)
Humans , Aborted Fetus , Agriculture , Amino Acid Sequence , Asian People , Capsid Proteins , DNA , Fetus , Genetic Variation , Korea , Molecular Epidemiology , Parvovirus, Porcine , Sequence Deletion , Sus scrofa , Swine
8.
Journal of Veterinary Science ; : 721-724, 2018.
Article in English | WPRIM | ID: wpr-758839

ABSTRACT

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.


Subject(s)
Aborted Fetus , Agriculture , Bacteria , Circovirus , Coinfection , Dermatitis , Genotype , In Situ Hybridization , Inflammation , Korea , Swine , Virulence
9.
Pesqui. vet. bras ; 37(9): 921-925, Sept. 2017. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-895522

ABSTRACT

Toxoplasma gondii and Neospora caninum are causative agents of abortion in sheep and goats. Thus, the present study aimed to describe the transplacental transmission of these protozoans in small ruminants of northeastern Brazil. Seventeen fetuses (6 goats and 11 sheep) from farms with history of abortion were necropsied and samples were collected from different tissues (brain, liver, lung, kidney and heart). The samples were analyzed by PCR, histopathology (HP) and immunohistochemistry (IHC) to evaluate whether T. gondii and/or N. caninum infection were the cause of abortion. None of the samples was positive for T. gondii according to PCR and IHC results. Some brain, liver, lung, kidney and heart samples of goat fetuses were positive for N. caninum by PCR. In the histopathology, mild mononuclear infiltration and necrosis with calcification were observed in the liver and brain of one goat fetus, respectively, that also was positive for N. caninum by PCR and IHC. The results confirmed vertical transmission of N. caninum in naturally infected goats of northeastern, Brazil.(AU)


Toxoplasma gondii e Neospora caninum são reconhecidos como protozoário causadores de aborto em ovinos e caprinos. Desta forma, objetivou-se descrever a transmissão transplacentária desses agentes em pequenos ruminantes na região Nordeste do Brasil. Foram examinados seis fetos caprinos e onze fetos ovinos, totalizando 78 amostras de diferentes tecidos (cérebro, fígado, pulmão, rim e coração) provenientes de propriedades rurais com histórico de aborto. As amostras foram analisadas por Reação em Cadeia da Polimerase (PCR), Histopatologia (HP) e Imunohistoquímica (IHQ), com a finalidade de associar o abortamento a T. gondii e/ou N. caninum. Nenhuma amostra foi positiva na PCR e IHQ para T. gondii. Algumas amostras de cérebro, fígado, pulmão, rim e coração de fetos de caprinos e ovinos foram positivas na PCR para N. caninum. Na histopatologia foi observado leve infiltrado mononuclear no fígado e necrose com calcificação no SNC de um caprino, associada à imunomarcação positiva para N. caninum na IHQ e PCR positiva. Os resultados confirmam a transmissão vertical de N. caninum em caprinos naturalmente infectados na região nordeste do Brasil.(AU)


Subject(s)
Animals , Placenta/microbiology , Ruminants/virology , Sheep/virology , Coccidiosis/transmission , Neospora , Infectious Disease Transmission, Vertical/veterinary , Aborted Fetus/pathology , Polymerase Chain Reaction/veterinary , Abortion, Veterinary/etiology
10.
Biol. Res ; 49: 1-16, 2016. ilus, graf
Article in English | LILACS | ID: biblio-950861

ABSTRACT

BACKGROUND: Cellular senescence is induced either internally, for example by replication exhaustion and cell division, or externally, for example by irradiation. In both cases, cellular damages accumulate which, if not successfully repaired, can result in senescence induction. Recently, we determined the transcriptional changes combined with the transition into replicative senescence in primary human fibroblast strains. Here, by γ-irradiation we induced premature cellular senescence in the fibroblast cell strains (HFF and MRC-5) and determined the corresponding transcriptional changes by high-throughput RNA sequencing. RESULTS: Comparing the transcriptomes, we found a high degree of similarity in differential gene expression in replicative as well as in irradiation induced senescence for both cell strains suggesting, in each cell strain, a common cellular response to error accumulation. On the functional pathway level, "Cell cycle" was the only pathway commonly down-regulated in replicative and irradiation-induced senescence in both fibroblast strains, confirming the tight link between DNA repair and cell cycle regulation. However, "DNA repair" and "replication" pathways were down-regulated more strongly in fibroblasts undergoing replicative exhaustion. We also retrieved genes and pathways in each of the cell strains specific for irradiation induced senescence. CONCLUSION: We found the pathways associated with "DNA repair" and "replication" less stringently regulated in irradiation induced compared to replicative senescence. The strong regulation of these pathways in replicative senescence highlights the importance of replication errors for its induction.


Subject(s)
Humans , Male , Cellular Senescence/physiology , Fibroblasts/radiation effects , Time Factors , DNA Damage , Immunoblotting , Down-Regulation/radiation effects , Up-Regulation/radiation effects , Cells, Cultured , Analysis of Variance , Cellular Senescence/radiation effects , Cellular Senescence/genetics , beta-Galactosidase/metabolism , Sequence Analysis, RNA , Gene Expression Profiling , Aborted Fetus , DNA Repair/radiation effects , DNA Replication/radiation effects , Fibroblasts/physiology , Gamma Rays , Lung
11.
The Korean Journal of Parasitology ; : 15-20, 2016.
Article in English | WPRIM | ID: wpr-36488

ABSTRACT

Toxoplasmosis is an important zoonotic disease that can cause abortion in humans and animals. The aim of this study was isolation and subsequent genotyping of Toxoplasma gondii isolates in ovine aborted fetuses. During 2012-2013, 39 ovine aborted fetuses were collected from sheep flocks in Khorasan Razavi Province, Iran. The brain samples were screened for detection of the parasite DNA by nested PCR. The positive brain samples were bioassayed in Webster Swiss mice. The serum samples of mice were examined for T. gondii antibodies by IFAT at 6 weeks post inoculation, and T. gondii cysts were searched in brain tissue samples of seropositive mice. The positive samples were genotyped by using a PCR-RLFP method. Subsequently, GRA6 sequences of isolates were analyzed using a phylogenetic method. The results revealed that T. gondii DNA was detected in 54% (20/37, 95% CI 38.4-69.0%) brain samples of ovine aborted fetuses. In bioassay of mice, only 2 samples were virulent and the mice were killed at 30 days post inoculation, while the others were non-virulent to mice. The size of cysts ranged 7-22 µm. Complete genotyping data for GRA6 locus were observed in 5 of the 20 samples. PCR-RLFP results and phylogenetic analysis revealed that all of the isolated samples were closely related to type I. For the first time, we could genotype and report T. gondii isolates from ovine aborted fetuses in Khorasan Razavi Province, Iran. The results indicate that the T. gondii isolates are genetically related to type I, although most of them were non-virulent for mice.


Subject(s)
Animals , Mice , Aborted Fetus/parasitology , Brain/parasitology , Genotype , Iran , Phylogeny , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Sheep , Sheep Diseases/parasitology , Toxoplasma/classification , Toxoplasmosis, Animal/parasitology
12.
Experimental & Molecular Medicine ; : e248-2016.
Article in English | WPRIM | ID: wpr-167185

ABSTRACT

MicroRNAs (miRNAs) are small, non-coding single-stranded RNAs that suppress protein expression by binding to the 3′ untranslated regions of their target genes. Many studies have shown that miRNAs have important roles in congenital heart diseases (CHDs) by regulating gene expression and signaling pathways. We previously found that miR-30c was highly expressed in the heart tissues of aborted embryos with ventricular septal defects. Therefore, this study aimed to explore the effects of miR-30c in CHDs. miR-30c was overexpressed or knocked down in P19 cells, a myocardial cell model that is widely used to study cardiogenesis. We found that miR-30c overexpression not only increased cell proliferation by promoting cell entry into S phase but also suppressed cell apoptosis. In addition, we found that miR-30c inhibited dimethyl sulfoxide-induced differentiation of P19 cells. miR-30c knockdown, in contrast, inhibited cell proliferation and increased apoptosis and differentiation. The Sonic hedgehog (Shh) signaling pathway is essential for normal embryonic development. Western blotting and luciferase assays revealed that Gli2, a transcriptional factor that has essential roles in the Shh signaling pathway, was a potential target gene of miR-30c. Ptch1, another important player in the Shh signaling pathway and a transcriptional target of Gli2, was downregulated by miR-30c overexpression and upregulated by miR-30c knockdown. Collectively, our study revealed that miR-30c suppressed P19 cell differentiation by inhibiting the Shh signaling pathway and altered the balance between cell proliferation and apoptosis, which may result in embryonic cardiac malfunctions.


Subject(s)
Female , Pregnancy , Aborted Fetus , Apoptosis , Blotting, Western , Cell Differentiation , Cell Proliferation , Embryonic Development , Gene Expression , Heart , Heart Diseases , Heart Septal Defects, Ventricular , Hedgehogs , Luciferases , MicroRNAs , RNA , S Phase , Untranslated Regions
13.
IJRM-Iranian Journal of Reproductive Medicine. 2015; 13 (4): 215-220
in English | IMEMR | ID: emr-166769

ABSTRACT

Sulfatase 1 [SULF1] function is to remove the 6-O-sulphate group from heparan sulfate. This action changes the binding sites of extracellular growth factors. SULF1 expression has been reported to be changed in angiogenesis. We hypothesized that single nucleotide polymorphisms [SNPs] of SULF1 would impact clinicopathologic characteristics. Study of SULF1 gene polymorphism with fetus failure in in vitro fertilization [IVF] technique. We studied one common [minor allele frequency >0.05] regulatory SNP, rs6990375, with polymerase chain reaction and restriction fragment length polymorphism method, in 53 infertile women with fetus failure in IVF technique and 53 women with at least one healthy child as controls. We found that rs6990375 is significantly associated with an early failure in IVF and frequency of G allele is high in women with fetus failure in IVF technique [p<0.001]. These findings suggest that SULF1genetic variations may play a role in IVF technique fetus failure. Further studies with large sample sizes on SULF1 SNPs may be useful in support of this claim


Subject(s)
Humans , Female , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Fertilization in Vitro , Case-Control Studies , Aborted Fetus , Polymorphism, Genetic
14.
Chinese Journal of Stomatology ; (12): 278-285, 2015.
Article in Chinese | WPRIM | ID: wpr-360400

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the nasolabial muscle anatomy and biomechanical characteristics.</p><p><b>METHODS</b>Micro-computed tomography scan was performed in 8 cases of spontaneous abortion fetus lip nasal specimens to construct a three-dimensional model. The nasolabial muscle structure was analyzed using Mimics software. The three-dimensional configuration model of nasolabial muscle was established based on local anatomy and tissue section, and compared with tissue section. Three dimensional finite element analysis was performed on lip nasal muscle related biomechanics and surface deformation in Application verification was carried out in 263 cases of microform cleft lip surgery.</p><p><b>RESULTS</b>There was close relationship between nasolabial muscle. The nasolabial muscle tension system was constituted, based on which a new cleft lip repair surgery was designed and satisfied results were achieved.</p><p><b>CONCLUSIONS</b>There is close relationship among nasolabial muscle in anatomy, histology and biomechanics. To obtain better effect, cleft lip repair should be performed on the basis of recovering muscle tension system.</p>


Subject(s)
Humans , Aborted Fetus , Biomechanical Phenomena , Cleft Lip , General Surgery , Facial Muscles , Diagnostic Imaging , Physiology , Finite Element Analysis , Lip , Diagnostic Imaging , Muscle Tonus , Nose , Diagnostic Imaging , Software , X-Ray Microtomography
15.
Pesqui. vet. bras ; 34(10): 974-980, out. 2014. ilus, tab
Article in Portuguese | LILACS | ID: lil-730543

ABSTRACT

O presente estudo avaliou a participação de agentes bacterianos e virais em abortos em bovinos de propriedades rurais do sul de Minas Gerais. Foi realizada análise histopatológica e imuno-histoquímica dos casos de aborto recebidos pelo Setor de Patologia Veterinária da Universidade Federal de Lavras no período de 1999 a 2013. De 60 fetos analisados, em 30 (50%) foram observadas lesões microscópicas. Destes, oito apresentavam lesões compatíveis com infecção por agentes bacterianos e três apresentaram lesões sugestivas de agentes virais. Dos abortos bacterianos, um feto tinha lesões compatíveis com leptospirose, caracterizadas por icterícia e colestase, nefrite intersticial linfoplasmocítica e nefrose tubular. Sete fetos apresentaram pneumonia ou broncopneumonia purulenta; num deles havia também pleurite e peritonite fibrinosas; e em dois desses fetos houve imunomarcação para Brucella abortus. Dos três fetos com lesões sugestivas de aborto viral ocorreu imunomarcação anti-Herpesvírus bovino em um. Os resultados demonstram a ocorrência de abortos de origem bacteriana e viral na Região do estudo e que medidas profiláticas devem ser adotadas nas propriedades. O trabalho demonstra também que a imuno-histoquímica (IHQ); associada à histopatologia; é uma ferramenta útil e viável para o diagnóstico, especialmente quando provas microbiológicas e/ou sorológicas não estão disponíveis.


The paper evaluates the participation of bacterial and viral agents in bovine abortions in farms of southern Minas Gerais state, Brazil. Histopathological and immunohistochemical analysis was performed in aborted fetuses of cattle received by the Setor de Patologia Veterinária, Universidade Federal de Lavras, from 1999 to 2013. From 60 fetuses studied, 30 (50%) had microscopic lesions. From these, eight had lesions consistent with bacterial agents and three had lesions suggestive of viral agents. In the bacterial abortions, one fetus presented lesions compatible with leptospirosis, characterized by jaundice, cholestasis, lymphoplasmacytic intersticial nephritis, and tubular nephrosis. Seven fetuses had purulent pneumonia or bronchopneumonia and one of them had also fibrinous pleuritis and peritonitis; two of them presented positive immunostaining for Brucella abortus. One of the three fetuses with lesions of viral infection revealed positive imunostaining for bovine herpesvirus. The results showed that abortions of bacterial and viral origin occur in the Region of this study and prophylactic measures should be adopted on the farms. This study also demonstrates that immunohistochemistry associated with histopathology is a useful and viable tool for the diagnosis, especially when microbiological and/or serological tests are not available.


Subject(s)
Animals , Female , Cattle , Abortion, Veterinary , Abortion, Septic/veterinary , Cattle/microbiology , Cattle/virology , Brucella abortus/isolation & purification , Aborted Fetus/anatomy & histology , Immunohistochemistry/veterinary
16.
Braz. j. med. biol. res ; 47(7): 594-599, 07/2014. tab
Article in English | LILACS | ID: lil-712967

ABSTRACT

β-catenin and c-myc play important roles in the development of tissues and organs. However, little is known about their expression patterns during the development of the human common bile duct. Immunohistochemistry was used to detect β-catenin and c-myc expression in common bile duct samples from postmortem tissues of 14 premature infants and 6 spontaneously aborted fetuses. The expression of β-catenin and c-myc was also analyzed by Western blot. The samples were divided into four groups based on the stage of human fetal development: 12, 13-27, 28-37, and >37 weeks. The Image-Pro Plus v. 6.0 image analysis software was used to calculate the mean qualifying score (MQS). At fetal stages 12, 13-27, 28-37, and >37 weeks, MQS of β-catenin were 612.52±262.13, 818.38±311.73, 706.33±157.19, and 350.69±110.19, respectively. There was a significant difference in MQS among the four groups (ANOVA, P=0.0155) and between the scores at >37 and 13-27 weeks (Student-Newman-Keuls, P<0.05). At fetal stages 12, 13-27, 28-37, and >37 weeks, the MQS of c-myc were 1376.64±330.04, 1224.18±171.66, 1270.24±320.75, and 741.04±219.19, respectively. There was a significant difference in MQS among the four groups (ANOVA, P=0.0087) and between the scores at >37 and 12 weeks, >37 and 13-27 weeks, and >37 and 28-37 weeks (all P<0.05, Student-Newman-Keuls). Western blots showed that β-catenin and c-myc expression were significantly higher in fetal than in postnatal control duct tissue (P<0.05). c-myc and β-catenin are involved in the normal development of the human common bile duct.


Subject(s)
Female , Humans , Infant, Newborn , Male , Common Bile Duct/embryology , Morphogenesis/physiology , Proto-Oncogene Proteins c-myc/metabolism , beta Catenin/metabolism , Aborted Fetus , Blotting, Western , Common Bile Duct/anatomy & histology , Common Bile Duct/metabolism , Image Processing, Computer-Assisted , Immunohistochemistry , Infant, Premature , Perinatal Death , Proto-Oncogene Proteins c-myc/analysis , Software , beta Catenin/analysis
17.
Int. j. morphol ; 31(2): 444-448, jun. 2013. ilus
Article in Spanish | LILACS | ID: lil-687082

ABSTRACT

El objetivo del trabajo fue identificar la presencia de células neuroendócrinas en yemas gustativas primordiales (fetales) humanas. Fueron utilizadas 15 lenguas fetales humanas obtenidas de abortos espontáneos (tiempo de gestación 23 semanas) de pacientes ingresados en el Hospital General, Chihuahua, México. Una muestra representativa del ápex lingual fue embebida en parafina y cortada a 3 micras para ser procesadas con la técnica inmunohitoquímica utilizando los siguientes anticuerpos: Anti-sinaptofisina; anti-proteína neurofilamento; anti-cromogranina; anti-citoqueratina 20; y anti proteínas-S100. El protocolo de investigación fue aprobado por los comités de bioética de las instituciones participantes. Se obtuvo la autorización de los padres para la utilización del material biológico. Las células gustativas fetales fueron fuertemente positivas a cromogranina, y negativas a sinaptofisina. Las papilas gustativas fetales humanas mostraron inmunorreactividad positiva contra citoqueratina 20, mientras que fibras nerviosas intragemulares mostraron inmunorreactividad contra anticuerpos anti-proteína neurofilamento. Las fibras nerviosas subyacentes al epitelio gustativo fueron positivas a proteína S100. Se muestra evidencia inmunohistoquímica de la presencia de células neuroendócrinas gustativa en yemas gustativas linguales primordiales humanas. Esto sugiere una probable participación neuroendocrina o paracrina en el desarrollo de las yemas gustativas humanas.


The objective was to identify the presence of neuroendocrine cells in primary taste buds (fetal) cells. We used 15 human embryionic fetal tongues derived from human spontaneous abortions (23 weeks gestation time) of patients admitted to the General Hospital, Chihuahua Mexico. A representative sample of lingual apex was embedded in paraffin and cut to 3 microns processed by immune histochemical technique using the following antibodies: anti-synaptophysin, neuro filament anti-protein, anti chromogranin; anti-citokeratin 20 and S100 anti proteins. Research was approved by bioethics committees of the participating institutions. Permission was obtained from the parents to use the biological material. The taste bud fetal cells were significantly positive for chromogranin and synaptophysin negative. The human fetal taste buds showed positive immunoreactivity against cyto keratin 20, while nerve fibers underlying the gustatory epithelium were positive for S100 protein. Immunohistochemical evidence shows the presence of neuro endocrine cells in human primordial taste bud papilla. This suggests a probable neuro endocrine or paracrine participation in the development of human taste buds.


Subject(s)
Humans , Neuroendocrine Cells , Taste Buds/cytology , Taste Buds/embryology , Aborted Fetus , Immunohistochemistry
18.
Pesqui. vet. bras ; 33(2): 155-160, fev. 2013. graf, tab
Article in Portuguese | LILACS | ID: lil-670948

ABSTRACT

The main causes of abortion in cattle diagnosed from January 2003 to December 2011 are described. A total of 490 fetuses from several Brazilian states were evaluated. Specific causes of abortion were found in 46.7% of the cases,and protozoan abortions, especially by Neospora caninum, were detected in 33% (162/490). Bacterial abortions corresponded to 6.3 % (31/490), followed by fungal ones to 0.8% (4/490). In two aborted fetuses (0.4 %), a co-infection with two agents could be identified. Non-infectious diseases could be associated with 3% of the abortions and congenital malformations with 2.6%.


Descrevem-se as causas de aborto bovino diagnosticadas no Setor de Patologia Veterinária da Universidade Federal do Rio Grande do Sul no período de janeiro de 2003 a dezembro de 2011. Um total de 490 fetos bovinos foi analisado neste período. Causas específicas de aborto foram encontradas em 46,7% dos casos. Infecções por protozoários, em especial Neospora caninum acometeram 33% dos casos (162/490). Bactérias com 6,3% (31/490), seguidas por fungos com 0,8% (4/490) dos casos, foram causas adicionais de abortos. Em dois fetos (0,4%), coinfecções por dois agentes foram identificadas. Causas não-infecciosas foram observadas em 3% dos abortos e Malformações congênitas em 2,6%.


Subject(s)
Animals , Female , Cattle , Aborted Fetus , Abortion, Veterinary/pathology , Autopsy/veterinary , Neospora/isolation & purification , Aspergillus fumigatus , Babesia bovis
19.
Neonatal Medicine ; : 343-353, 2013.
Article in Korean | WPRIM | ID: wpr-97611

ABSTRACT

Neural stem cells (NSCs) are characterized by a capacity for self-renewal, differentiation into multiple neural cell lineages, and migration toward damaged sites in the central nervous system (CNS). NSCs expanded in culture could be implanted into the brain where they integrate into host neural circuitry and stably express foreign genes. It hence appears that transplantation of NSCs has been proposed as a promising therapeutic strategy in neurological disorders. During hypoxic-ischemic (HI) brain injury, factors are transiently elaborated to which NSCs respond by migrating to degenerating regions and differentiating towards replacement of dying neural cells. In addition, NSCs serve as vehicles for gene delivery and appear capable of simultaneous neural cell replacement and gene therapy (e.g. with factors that might enhance neuronal differentiation, neurites outgrowth, proper connectivity, neuroprotection, and/or immunomodulatory substances). When combined with certain synthetic biomaterials, NSCs may be even more effective in 'engineering' the damaged CNS towards reconstitution. Human NSCs were isolated from the forebrain of an aborted fetus at 13 weeks of gestation and were grown as neurospheres in cultures. After the characterization of human NSCs in preclinical testing and the approval of the IRB, a clinical trial of the transplantation of human NSCs into patients with severe perinatal HI brain injury has been performed. The existing data from these clinical trials have shown to be safe, well tolerated, and of neurologically-some benefits. Therefore, long-term and large scale multicenter clinical study is required to determine its precise therapeutic effect and safety.


Subject(s)
Humans , Pregnancy , Aborted Fetus , Biocompatible Materials , Brain , Brain Injuries , Cell Lineage , Central Nervous System , Ethics Committees, Research , Genetic Therapy , Nervous System Diseases , Neural Stem Cells , Neurites , Neurons , Prosencephalon , Cell- and Tissue-Based Therapy , Transplants
20.
Article in English | IMSEAR | ID: sea-145807

ABSTRACT

Objective: The intent of this study was to evaluate the effect of plastination on the morphology and structure of stored organs, to find out how much accuracy a plastinated specimen has, and to look into the changes that occurred because of plastination. Materials and Methods: A human fetus of gestational age 24 weeks was plastinated, and 3D CT scan evaluation of the fetus was done. Results: The results showed normal, well-defined, clearly identifiable organs, with no alteration in morphology and structure of organs. Conclusion: In our opinion, plastinated specimens are better way of visualization of morphology and structure of stored organs, which is a useful tool for teaching as well as for research purposes.


Subject(s)
Aborted Fetus/anatomy & histology , Exhibitions as Topic , Health Education , Humans , Imaging, Three-Dimensional , Plastic Embedding/methods , Tomography, X-Ray Computed
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