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1.
Ceska Gynekol ; 86(3): 189-193, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34192879

RESUMO

OBJECTIVE: A case report of a 23-year-old pregnant woman diagnosed with Guillain-Barré syndrome in the 31st week of pregnancy. CASE REPORT: We present a case study of a patient in the 31st week of pregnancy hospitalized at the University Hospital in Brno for expressed bulbar syndrome, neck muscle weakness, paresthesia of the arms and medical history of diarrhea in the previous week. During hospitalization, there was a rapid progression of symptoms and respiratory failure, requiring orotracheal intubation. The diagnosis of Guillain-Barré syndrome was determined and intravenous immunoglobulin therapy was initiated. The pregnancy was terminated in the 32nd week of gestation based on the maternal indication after a completed lung maturation of the fetus. CONCLUSION: Guillain-Barré syndrome is a neurological disease that can rarely occur during pregnancy and puerperium. The syndrome presents a serious pregnancy complication with an uncertain prognosis and risk for both mother and fetus. If the syndrome is diagnosed in time and treated correctly, the prognosis is favorable despite the complicated course.


Assuntos
Síndrome de Guillain-Barré , Complicações na Gravidez , Adulto , Feminino , Feto , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Humanos , Mães , Período Pós-Parto , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/terapia , Adulto Jovem
2.
Sensors (Basel) ; 21(13)2021 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-34209154

RESUMO

Segmentation of the fetus from 2-dimensional (2D) magnetic resonance imaging (MRI) can aid radiologists with clinical decision making for disease diagnosis. Machine learning can facilitate this process of automatic segmentation, making diagnosis more accurate and user independent. We propose a deep learning (DL) framework for 2D fetal MRI segmentation using a Cross Attention Squeeze Excitation Network (CASE-Net) for research and clinical applications. CASE-Net is an end-to-end segmentation architecture with relevant modules that are evidence based. The goal of CASE-Net is to emphasize localization of contextual information that is relevant in biomedical segmentation, by combining attention mechanisms with squeeze-and-excitation (SE) blocks. This is a retrospective study with 34 patients. Our experiments have shown that our proposed CASE-Net achieved the highest segmentation Dice score of 87.36%, outperforming other competitive segmentation architectures.


Assuntos
Processamento de Imagem Assistida por Computador , Redes Neurais de Computação , Feto , Humanos , Imageamento por Ressonância Magnética , Estudos Retrospectivos
3.
Front Cell Infect Microbiol ; 11: 684670, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34239816

RESUMO

Bovine neosporosis is currently considered one of the main causes of abortion in cattle worldwide and the outcome of the infection is, in part, determined by Neospora caninum isolate virulence. However, the dam and foetal immune responses associated with this factor are largely unknown. We used a model of bovine infection at day 110 of gestation to study the early infection dynamics (10- and 20-days post-infection, dpi) after experimental challenge with high- and low-virulence isolates of N. caninum (Nc-Spain7 and Nc-Spain1H, respectively). In the present work, dam peripheral cellular immune responses were monitored twice a week from -1 to 20 dpi. At different time points, IFN-γ and IL-4 production was investigated in stimulated dam blood and the percentage of monocytes, NK cells, B cells and T cells (CD4+, CD8+ and γδ) in peripheral blood mononuclear cells (PBMC) were determined by flow cytometry. In addition, maternal iliofemoral lymph nodes and foetal spleen and thymus were collected at 10 and 20 dpi for the study of the same cell subpopulations. Peripheral immune response dynamics were similar after the infection with both isolates, with a significant increase in the percentage of CD4+ T cells at 6 and 9 dpi in PBMC, coincident with the higher levels of IFN-γ and IL-4 release. However, the levels of IFN-γ were significantly higher and an increase in CD8+ T cells at 9, 13 and 20 dpi was observed in the dams infected with Nc-Spain7. Nc-Spain1H infection induced higher IL4 levels in stimulated blood and a higher CD4+/CD8+ ratio in PBMC. The analysis of the maternal iliofemoral lymph node showed a significant enhancement in the percentage of NK, CD4+ and CD8+ T cells for the animals infected with the highly virulent isolate and euthanized at 20 dpi. Regarding the foetal responses, the most remarkable result was an increase in the percentage of monocytes at 20 dpi in the spleen of foetuses from both infected groups, which suggests that foetuses were able to respond to N. caninum infection at mid gestation. This work provides insights into how isolate virulence affects the maternal and foetal immune responses generated against N. caninum, which may influence the course of infection.


Assuntos
Doenças dos Bovinos , Coccidiose , Neospora , Animais , Bovinos , Coccidiose/veterinária , Feminino , Feto , Imunidade Celular , Leucócitos Mononucleares , Gravidez , Virulência
4.
Am J Obstet Gynecol ; 225(1): 10-20, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34215351

RESUMO

The data available to inform pregnant and lactating women about drug safety and efficacy are woefully inadequate. This lack of information encompasses every aspect of pharmaceutics, including limited human data about the embryonic risk, limited pharmacokinetic and pharmacodynamic information during and after pregnancy to ensure proper dosing, and a dearth of new medications to treat obstetrical and lactation disorders. This state of affairs has been longstanding and can be attributed to several realities, most of which have withstood any efforts to modify them. The first reality is the disinterest of the pharmaceutical industry to undertake pregnancy and lactation studies because of the considerable disincentives to undertake such studies. The medicolegal risks and the limited opportunity for financial gain are significant barriers to their participation. The US Food and Drug Administration has not mandated that new drugs or drugs "on patent" must include studies in pregnant women. Regulatory constrains that have defined pregnant women as a vulnerable class have greatly limited pharmacologic studies. Another contributing factor to this lack of information is the lack of researchers skilled in pharmacology with an interest in the pregnant woman. In addition, although difficult to measure, there is the hesitancy of pregnant and lactating women to participate in pharmacology research either for fear of fetal risk or an inability to commit the time required for such studies. Research in obstetrical and lactation pharmacology lags far behind that of pediatric pharmacology. Through the efforts of many, research in that field is highly funded and very productive in providing new information on medications used in children who, like pregnant women, have differing pharmacologic needs based on age (chronology for children and gestational age for pregnant women). Recently, the deficiencies and possible remedies for this embarrassing state of affairs in obstetrical and lactation pharmacology have been addressed by the federal government, which led to 15 recommendations from the Task Force on Research Specific to Pregnant Women and Lactating Women. In this article, we address the challenges in providing meaningful information about specific medications used by the mother and how these problems have evolved. We also suggest specific strategies to start the process of remediation.


Assuntos
Lactação , Obstetrícia , Aleitamento Materno , Criança , Feminino , Feto , Humanos , Gravidez , Gestantes
5.
BMC Genomics ; 22(1): 500, 2021 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-34217204

RESUMO

BACKGROUND: Brown adipose tissue (BAT) is specialized to dissipate energy in the form of heat. BAT-mediated heat production in rodents and humans is critical for effective temperature adaptation of newborns to the extrauterine environment immediately after birth. However, very little is known about whether and how fetal BAT development is modulated in-utero in response to changes in maternal thermal environment during pregnancy. Using BL6 mice, we evaluated the impact of different maternal environmental temperatures (28 °C and 18 °C) on the transcriptome of the placenta and fetal BAT to test if maternal cold exposure influences fetal BAT development via placental remodeling. RESULTS: Maternal weight gain during pregnancy, the average number of fetuses per pregnancy, and placental weight did not differ between the groups at 28 °C and 18 °C. However, the average fetal weight at E18.5 was 6% lower in the 18 °C-group compared to the 28 °C-group. In fetal BATs, cold exposure during pregnancy induced increased expression of genes involved in de novo lipogenesis and lipid metabolism while decreasing the expression of genes associated with muscle cell differentiation, thus suggesting that maternal cold exposure may promote fetal brown adipogenesis by suppressing the myogenic lineage in bidirectional progenitors. In placental tissues, maternal cold exposure was associated with upregulation of genes involved in complement activation and downregulation of genes related to muscle contraction and actin-myosin filament sliding. These changes may coordinate placental adaptation to maternal cold exposure, potentially by protecting against cold stress-induced inflammatory damage and modulating the vascular and extravascular contractile system in the placenta. CONCLUSIONS: These findings provide evidence that environmental cold temperature sensed by the mother can modulate the transcriptome of placental and fetal BAT tissues. The ramifications of the observed gene expression changes warrant future investigation.


Assuntos
Tecido Adiposo Marrom , Temperatura Baixa , Animais , Feminino , Feto , Camundongos , Placenta , Gravidez , Termogênese , Transcriptoma
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 643-646, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247368

RESUMO

OBJECTIVE: To explore the genetic basis for a couple with recurrent conceptions of fetus with abnormal longbones, and another couple with a history of omphalocele. METHODS: Genomic DNA was extracted from the peripheral blood samples from both couples. All exons and flanking regions were analyzed with next generation sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Couple one was found to be heterozygous for, a c.997+1G>T splice-site variant and a missence c.871G>A(p.Glu291Lys) variant of the ALPL gene. Both variants were predicted to be pathogenic and may result in reduced function or loss of alkaline phosphatase. For couple two, the wife was found to harbor a novel c.637_652 delins CCC variant of the CDKN1C gene. This deletion-insertion variant resulted in frame-shift and loss of function (p.Ala213Profs*55) of the CDKN1C protein. Maternally inherited CDKN1C LOF variant has been found to underlie Beckwith-Wiedemann syndrome (BWS), which may manifest as omphalocele. CONCLUSION: Dispite the lack the direct proof from the lost fetuses, the variants of ALPL and CDKN1C genes can explain the recurrence of fetal malformations for both couples.


Assuntos
Síndrome de Beckwith-Wiedemann , Feto , Humanos , Mutação
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 647-651, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247369

RESUMO

OBJECTIVE: To explore the genetic etiology for a fetus with congenital orofacial cleft. METHODS: Single nucleotide polymorphism microarray (SNP array) was carried out on skin tissues sampled from the fetus following induced abortion for the detection of copy number variation (CNVs). Pathogenicity of the candidate gene was validated through experiment. RESULTS: SNP array revealed that the fetus has carried a hemizygous 9.23Mb deletion at Xq21.31-q22.1(91 063 807-100 293 555), which was inherited from its mother. The region contained 13 OMIM genes and 1 ncRNA coding gene(MIR548M). Inhibiting of the expression of the MIR548M gene in oral epithelial celllines has resulted in up-regulation of the expression of SUMO1 gene which was known to involve in the pathogenesis of orofacial cleft. CONCLUSION: Dosage insufficiency of the MIR548M gene may underlie the etiology of orofacial cleft in this fetus.


Assuntos
Fenda Labial , Fissura Palatina , MicroRNAs , Fenda Labial/genética , Fissura Palatina/genética , Variações do Número de Cópias de DNA/genética , Feminino , Feto , Humanos , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Gravidez , Proteína SUMO-1
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 659-662, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247372

RESUMO

OBJECTIVE: To analyze the prenatal diagnosis, parental verification and pregnancy outcome of 6 fetuses with 22q11.2 microdeletion syndrome. METHODS: Copy number variation sequencing (CNV-seq)and chromosomal microarray analysis (CMA) were carried out for the fetuses. RESULTS: The fetuses were found to harbor 2.54-3.2 Mb microdeletions of the 22q11.2 region, among which one was maternally inherited and one was paternally inherited. Two parents opted to continue with the pregnancy, and 4 chose induced labor. One fetus was found to have tetralogy of Fallot, while two carrier parents and one fetus appeared to have normal phenotype. CONCLUSION: 22q11.2 microdeletions identified upon prenatal diagnosis should be treated carefully, with ultrasonic scan and parental verification taken into account.


Assuntos
Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal , Feminino , Feto , Humanos , Análise em Microsséries , Gravidez , Resultado da Gravidez , Ultrassonografia Pré-Natal
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 667-670, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247374

RESUMO

OBJECTIVE: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles. METHODS: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4). CONCLUSION: The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.


Assuntos
Atrofias Olivopontocerebelares , Feminino , Feto , Genômica , Humanos , Mutação , Gravidez , Sequenciamento Completo do Exoma
10.
Int J Mol Sci ; 22(11)2021 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-34070692

RESUMO

Tendinopathies are painful, disabling conditions that afflict 25% of the adult human population. Filling an unmet need for realistic large-animal models, we here present an ovine model of tendon injury for the comparative study of adult scarring repair and fetal regeneration. Complete regeneration of the fetal tendon within 28 days is demonstrated, while adult tendon defects remained macroscopically and histologically evident five months post-injury. In addition to a comprehensive histological assessment, proteome analyses of secretomes were performed. Confirming histological data, a specific and pronounced inflammation accompanied by activation of neutrophils in adult tendon defects was observed, corroborated by the significant up-regulation of pro-inflammatory factors, neutrophil attracting chemokines, the release of potentially tissue-damaging antimicrobial and extracellular matrix-degrading enzymes, and a response to oxidative stress. In contrast, secreted proteins of injured fetal tendons included proteins initiating the resolution of inflammation or promoting functional extracellular matrix production. These results demonstrate the power and relevance of our novel ovine fetal tendon regeneration model, which thus promises to accelerate research in the field. First insights from the model already support our molecular understanding of successful fetal tendon healing processes and may guide improved therapeutic strategies.


Assuntos
Matriz Extracelular/metabolismo , Ativação de Neutrófilo , Neutrófilos/metabolismo , Regeneração , Tendinopatia/metabolismo , Tendões/fisiologia , Animais , Matriz Extracelular/patologia , Feminino , Feto , Humanos , Ovinos , Tendinopatia/patologia
11.
Ceska Gynekol ; 86(3): 175-182, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34167310

RESUMO

SETTING: In the article, we remember the role of antithrombin (AT) in hemostasis, escalation of AT-potential with heparin and difficulties with monitoring the effectiveness of LMWH therapy (low molecular weight heparin) in patients with AT deficiency. We pay most of our attention to hereditary AT deficiency and its thromboembolic risk in pregnancy. METHODS: In the introduction, the principle of AT function, its two main domains and the regulation of synthesis are cleared. We describe the causal mutations of hereditary AT deficiency in SERPINC1 gen and the relation to a thromboembolic risk. The general recommendations for patients with hereditary AT deficiency and pregnant women are mentioned. As the risk of thromboembolic disease is escalated in pregnancy, the LMWH should always be considered. There has been frequently observed that patients with AT deficiency do not elevate anti-Xa-levels when standard prophylactic LMWH doses are used. This fact well illustrates that heparin without AT may not inhibit the active coagulant factors efficiently enough. Therefore, if a high thromboembolic risk in the patient's anamnesis is present, the LMWH dosing should be escalated. In individual cases, concomitant administration of an antithrombin concentrate to the heparin treatment is recommended at the time of delivery or in the case of deep venous thrombosis. In this article, three cases of unusual pregnancy in patients with different types of AT deficiency are reported. The case reports are summarized from the Department of Hematology at Hospital Kolín, the Centre of Hemostasis and Thrombosis at Institute of Hematology and Blood Transfusion in Prague and from cooperating obstetrical departments in the Czech Republic. RESULTS: We demonstrated the threat of hereditary AT deficiency in three case reports. In one case, the estimated risk of thromboembolism ­ type I of AT-deficiency (quantitative) ­ was in a good correlation with real peripartal complications. In the next two cases with different types of AT deficiency, we showed surprising courses of complicated pregnancies. CONCLUSION: As it has been shown, it is not safe to estimate the risk of thromboembolism on the base of causal mutation for AT deficiency. For present clinical practice, we should still remember AT deficiency as a potentially very dangerous thromboembolic disorder for mother and fetus; thus, excellent cooperation of an obstetrician and a hematologist is necessary.


Assuntos
Deficiência de Antitrombina III , Deficiência de Antitrombina III/complicações , Deficiência de Antitrombina III/genética , República Tcheca , Feminino , Feto , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Mães , Gravidez
12.
J R Soc Interface ; 18(179): 20210140, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34062108

RESUMO

Multi-scale structural assessment of biological soft tissue is challenging but essential to gain insight into structure-function relationships of tissue/organ. Using the human placenta as an example, this study brings together sophisticated sample preparation protocols, advanced imaging and robust, validated machine-learning segmentation techniques to provide the first massively multi-scale and multi-domain information that enables detailed morphological and functional analyses of both maternal and fetal placental domains. Finally, we quantify the scale-dependent error in morphological metrics of heterogeneous placental tissue, estimating the minimal tissue scale needed in extracting meaningful biological data. The developed protocol is beneficial for high-throughput investigation of structure-function relationships in both normal and diseased placentas, allowing us to optimize therapeutic approaches for pathological pregnancies. In addition, the methodology presented is applicable in the characterization of tissue architecture and physiological behaviours of other complex organs with similarity to the placenta, where an exchange barrier possesses circulating vascular and avascular fluid spaces.


Assuntos
Placenta , Síncrotrons , Feminino , Feto , Humanos , Placenta/diagnóstico por imagem , Gravidez , Microtomografia por Raio-X
13.
Int J Mol Sci ; 22(11)2021 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-34071182

RESUMO

Metformin is the first-line treatment for many people with type 2 diabetes mellitus (T2DM) and gestational diabetes mellitus (GDM) to maintain glycaemic control. Recent evidence suggests metformin can cross the placenta during pregnancy, thereby exposing the fetus to high concentrations of metformin and potentially restricting placental and fetal growth. Offspring exposed to metformin during gestation are at increased risk of being born small for gestational age (SGA) and show signs of 'catch up' growth and obesity during childhood which increases their risk of future cardiometabolic diseases. The mechanisms by which metformin impacts on the fetal growth and long-term health of the offspring remain to be established. Metformin is associated with maternal vitamin B12 deficiency and antifolate like activity. Vitamin B12 and folate balance is vital for one carbon metabolism, which is essential for DNA methylation and purine/pyrimidine synthesis of nucleic acids. Folate:vitamin B12 imbalance induced by metformin may lead to genomic instability and aberrant gene expression, thus promoting fetal programming. Mitochondrial aerobic respiration may also be affected, thereby inhibiting placental and fetal growth, and suppressing mammalian target of rapamycin (mTOR) activity for cellular nutrient transport. Vitamin supplementation, before or during metformin treatment in pregnancy, could be a promising strategy to improve maternal vitamin B12 and folate levels and reduce the incidence of SGA births and childhood obesity. Heterogeneous diagnostic and screening criteria for GDM and the transient nature of nutrient biomarkers have led to inconsistencies in clinical study designs to investigate the effects of metformin on folate:vitamin B12 balance and child development. As rates of diabetes in pregnancy continue to escalate, more women are likely to be prescribed metformin; thus, it is of paramount importance to improve our understanding of metformin's transgenerational effects to develop prophylactic strategies for the prevention of adverse fetal outcomes.


Assuntos
Diabetes Gestacional/metabolismo , Desenvolvimento Fetal/efeitos dos fármacos , Ácido Fólico/metabolismo , Metformina/metabolismo , Gravidez em Diabéticas/metabolismo , Vitamina B 12/metabolismo , Carbono/metabolismo , Diabetes Mellitus Tipo 2 , Interações Medicamentosas , Feminino , Feto , Ácido Fólico/farmacologia , Humanos , Metformina/farmacologia , Obesidade/metabolismo , Placenta/metabolismo , Gravidez , Complicações na Gravidez , Gravidez em Diabéticas/induzido quimicamente , Gravidez em Diabéticas/tratamento farmacológico , Vitamina B 12/farmacologia
16.
Acta Orthop Traumatol Turc ; 55(3): 196-200, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34100358

RESUMO

OBJECTIVE: This study aimed to determine the predictability of developmental dysplasia of the hip (DDH) in the prenatal period by means of evaluating fetal hips using the Graf method on obstetric ultrasonography (US) after the 34th week of gestation. METHODS: A total of 84 pregnant women (mean age = 27.04; age range = 19-46 years), who were referred to our radiology clinic for an obstetric US examination in the third trimester, and their fetuses were included in this study. In the obstetric US, alpha angles of both hips of the fetuses were measured based on Graf's method, and each case was assessed ultrasonographically by a second physician at 6-10 postnatal weeks. Prenatal and postnatal hips were then classified according to alpha angles as ≥ 60° or < 60°. The kappa coefficients between the diagnoses based on prenatal and postnatal alpha angles were calculated. RESULTS: According to the postnatal alpha angle, 77 fetuses were diagnosed to have type 1 right hip and 7 fetuses had type 2A right hip. The prenatal alpha angle provided the same results (77 type 1 and 7 type 2A right hips). Similarly, the postnatal alpha angle revealed type 1 left hip in 82 fetuses and type 2A left hip in 2 fetuses, which was the same as the diagnoses based on the prenatal alpha angles. There was a complete agreement between prenatal and postnatal alpha measurements for both the left and right hips (kappa = 1.00, P < 0.001). CONCLUSION: Evidence from this study has revealed that DDH can be identified by obstetric ultrasonographic examinations in the prenatal period.


Assuntos
Displasia do Desenvolvimento do Quadril/diagnóstico , Feto/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Seguimentos , Luxação Congênita de Quadril/diagnóstico , Luxação Congênita de Quadril/etiologia , Articulação do Quadril/diagnóstico por imagem , Humanos , Recém-Nascido , Valor Preditivo dos Testes , Gravidez , Terceiro Trimestre da Gravidez
17.
Nat Commun ; 12(1): 3896, 2021 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-34162837

RESUMO

Tumor cells may share some patterns of gene expression with their cell of origin, providing clues into the differentiation state and origin of cancer. Here, we study the differentiation state and cellular origin of 1300 childhood and adult kidney tumors. Using single cell mRNA reference maps of normal tissues, we quantify reference "cellular signals" in each tumor. Quantifying global differentiation, we find that childhood tumors exhibit fetal cellular signals, replacing the presumption of "fetalness" with a quantitative measure of immaturity. By contrast, in adult cancers our assessment refutes the suggestion of dedifferentiation towards a fetal state in most cases. We find an intimate connection between developmental mesenchymal populations and childhood renal tumors. We demonstrate the diagnostic potential of our approach with a case study of a cryptic renal tumor. Our findings provide a cellular definition of human renal tumors through an approach that is broadly applicable to human cancer.


Assuntos
Neoplasias Renais/genética , Rim/metabolismo , RNA Mensageiro/genética , RNA-Seq/métodos , Análise de Célula Única/métodos , Transcriptoma , Adulto , Algoritmos , Criança , Feto/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Humanos , Rim/embriologia , Neoplasias Renais/embriologia , Neoplasias Renais/metabolismo , Modelos Genéticos , Transdução de Sinais/genética
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(6): 569-572, 2021 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-34096028

RESUMO

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing. METHODS: G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan. RESULTS: The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent. CONCLUSION: Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.


Assuntos
Deleção Cromossômica , Diagnóstico Pré-Natal , Cromossomos , Feminino , Feto , Humanos , Cariotipagem , Gravidez
19.
Zhongguo Yi Liao Qi Xie Za Zhi ; 45(3): 250-255, 2021 Jun 08.
Artigo em Chinês | MEDLINE | ID: mdl-34096230

RESUMO

Fetal heart rate plays an essential role in maternal and fetal monitoring and fetal health detection. In this study, a method based on Poincare Plot and LSTM is proposed to realize the high performance classification of abnormal fetal heart rate. Firstly, the original fetal heart rate signal of CTU-UHB database is preprocessed via interpolation, then the sequential fetal heart rate signal is converted into Poincare Plot to obtain nonlinear characteristics of the signals, and then SquenzeNet is used to extract the features of Poincare Plot. Finally, the features extracted by SqueezeNet are classified by LSTM. And the accuracy, the true positive rate and the false positive rate are 98.00%, 100.00%, 92.30% respectively on 2 000 test set data. Compared with the traditional fetal heart rate classification method, all respects are improved. The method proposed in this study has good performance in CTU-UHB fetal monitoring database and has certain practical value in the clinical diagnosis of auxiliary fetal heart rate detection.


Assuntos
Monitorização Fetal , Frequência Cardíaca Fetal , Bases de Dados Factuais , Feminino , Feto , Humanos , Gravidez
20.
Clin Lab ; 67(6)2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34107617

RESUMO

BACKGROUND: Anticoagulation of pregnant woman with mechanical prosthetic heart valves is associated with significant maternal and fetal risks. METHODS: We describe a case of dorsal midline dysplasia in a fetus at 11 weeks' gestation. The mother was receiving warfarin therapy at a dose of 7.5 mg daily following a mechanical mitral valve replacement for rheumatic heart disease. RESULTS: Histological assessment revealed a meningocele with hemorrhage. No cerebellar or cerebral tissue was present in the skull confirming anencephaly. CONCLUSIONS: A multidisciplinary approach in pregnant women with mechanical prosthetic heart valves is essential in order to improve fetal outcomes.


Assuntos
Malformações do Sistema Nervoso , Complicações Cardiovasculares na Gravidez , Anticoagulantes/efeitos adversos , Feminino , Feto , Humanos , Gravidez , Complicações Cardiovasculares na Gravidez/tratamento farmacológico , Varfarina/efeitos adversos
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