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1.
Int J Mol Sci ; 25(1)2023 Dec 25.
Artigo em Inglês | MEDLINE | ID: mdl-38203478

RESUMO

Pre-eclampsia (PE) continues to be a leading cause of maternal and fetal mortality and morbidity. While substantial progress has been made in understanding the pathomechanisms of PE, the pathophysiology of the disease is still not fully understood. While the "two-stage model" of the development of PE is the most widely accepted theory, stating that the placenta is the main source of the disease, there are some other pathophysiological models of PE. Among these other theories, the one considering heart dysfunction as serving as the primary cause of PE seems to be gaining increasing prominence. In this review, we aim to elucidate these two divergent concepts concerning the development of PE. Despite some differences in their proposed pathomechanisms, both theories share vital pathophysiological elements in common. A central and critical component in both models is impaired placental perfusion, which appears to be a crucial phenomenon in PE. A comprehensive understanding of the different pathomechanisms involved in PE may be helpful in clinical practice, prompting a more individual approach to care of patients with PE.


Assuntos
Placenta , Pré-Eclâmpsia , Feminino , Gravidez , Humanos , Família , Pelve , Perfusão
2.
Children (Basel) ; 11(9)2024 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-39334570

RESUMO

Parvovirus B19 is a virus that causes a common and usually harmless infection in both children and adults. If the virus is transmitted transplacentally during pregnancy, it can have serious consequences for both the pregnant woman and the fetus. Potential complications include severe fetal anemia, which can lead to intrauterine fetal death. A common ultrasound finding in fetuses affected by parvovirus B19 is fetal edema, which is associated with a poor prognosis. Additionally, a rare but serious complication in pregnant women with parvovirus B19 infection is mirror syndrome. The diagnosis of parvovirus B19 infection during pregnancy necessitates close monitoring of the fetal condition. If fetal anemia is suspected, intrauterine transfusion is indicated to increase fetal survival. This study presents eight cases of parvovirus B19 infection in pregnant women, highlighting the various maternal-fetal complications encountered, along with diagnostic and treatment strategies.

3.
Dis Model Mech ; 13(12)2020 12 18.
Artigo em Inglês | MEDLINE | ID: mdl-33033063

RESUMO

The causal genetic underpinnings of congenital heart diseases, which are often complex and multigenic, are still far from understood. Moreover, there are also predominantly monogenic heart defects, such as cardiomyopathies, with known disease genes for the majority of cases. In this study, we identified mutations in myomesin 2 (MYOM2) in patients with Tetralogy of Fallot (TOF), the most common cyanotic heart malformation, as well as in patients with hypertrophic cardiomyopathy (HCM), who do not exhibit any mutations in the known disease genes. MYOM2 is a major component of the myofibrillar M-band of the sarcomere, and a hub gene within interactions of sarcomere genes. We show that patient-derived cardiomyocytes exhibit myofibrillar disarray and reduced passive force with increasing sarcomere lengths. Moreover, our comprehensive functional analyses in the Drosophila animal model reveal that the so far uncharacterized fly gene CG14964 [herein referred to as Drosophila myomesin and myosin binding protein (dMnM)] may be an ortholog of MYOM2, as well as other myosin binding proteins. Its partial loss of function or moderate cardiac knockdown results in cardiac dilation, whereas more severely reduced function causes a constricted phenotype and an increase in sarcomere myosin protein. Moreover, compound heterozygous combinations of CG14964 and the sarcomere gene Mhc (MYH6/7) exhibited synergistic genetic interactions. In summary, our results suggest that MYOM2 not only plays a critical role in maintaining robust heart function but may also be a candidate gene for heart diseases such as HCM and TOF, as it is clearly involved in the development of the heart.This article has an associated First Person interview with Emilie Auxerre-Plantié and Tanja Nielsen, joint first authors of the paper.


Assuntos
Cardiomiopatia Hipertrófica/genética , Conectina/genética , Proteínas de Drosophila/genética , Drosophila melanogaster/metabolismo , Estudos de Associação Genética , Proteínas de Membrana/genética , Tetralogia de Fallot/genética , Animais , Proteínas de Drosophila/metabolismo , Feminino , Humanos , Locomoção , Masculino , Proteínas de Membrana/metabolismo , Músculos/metabolismo , Mutação/genética , Miocárdio , Miócitos Cardíacos/metabolismo , Miócitos Cardíacos/patologia , Miofibrilas/metabolismo , Miofibrilas/patologia , Especificidade de Órgãos , Ligação Proteica , Mapeamento de Interação de Proteínas
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