Results 51 to 60 of about 487,341 (298)

A Spatiotemporal Single‐Cell Atlas Uncovers Dysregulated ECM Dynamics and Septal Remodeling Arrest in Human Ventricular Septal Defects

Advanced Science, EarlyView.
Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang, Lun Zhu, Ze Sun, Ruolin Jia, Ziming Wang, Jiayao Zhao, Bohao Liu, Haiqing Xiong, Xiaowei Yu, Yanzhu Yue   +9 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Association of maternal and umbilical cord blood leptin concentrations and abnormal color Doppler indices of umbilical artery with fetal growth restriction

International Journal of Reproductive BioMedicine, 2017
Background: Fetal growth restriction (FGR) is a condition with heterogeneous pathophysiology which characterized by fetal weight less than the tenth percentile for gestational age.
Elahe Zareaan, Mitra Heidarpour, Elham Kargarzadeh   +2 more
doaj   +2 more sources

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Venous Doppler in the Evaluation of Fetal Hydrops [PDF]

Obstetrics and Gynecology International, 2010
Objective. To examine venous blood flow velocity in different types of fetal hydrops and its value in the prediction of outcome of pregnancies. Methods. Venous Doppler sonography was performed in 100 hydropic fetuses from 15 to 37 weeks of gestation. Blood velocity was recorded in the right hepatic vein (HV), the ductus venosus (DV) and in the intra ...
C. Hofstaetter, S. Gudmundsson
openaire   +3 more sources

Pulsed-wave tissue Doppler echocardiography for the analysis of fetal cardiac arrhythmias

, 2011
Rhythm analysis of the fetal heart is hampered by the inability to routinely obtain electrocardiographic recordings of the fetus. Doppler studies of fetal cardiac tissue movements, assessing cardiac movements both qualitatively and quantitatively, have ...
Schmidt, K G, Tutschek, B, B. Tutschek, K. G. Schmidt   +3 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Fetal Hepatic Circulation: From Vascular Physiology to Doppler Assessment

Diagnostics
During fetal life, the hepatic artery (HA) is responsible for a small contribution to the total hepatic blood inflow; however, it plays a key role in maintaining liver perfusion and reflects fetal hemodynamic adaptation. With advances in ultrasonography,
Inês Gil-Santos, Luís Guedes-Martins
doaj   +1 more source

Longitudinal assessment of maternal-fetal Doppler parameters and maternal plasma level of matrix metalloproteinases 2 and 9

, 2016
Objective: To assess the behavior as well as the comparison between maternal circulating level of biochemical markers (matrix metalloproteinases - MMP-9 and MMP-2) and maternal-fetal Doppler parameters in all three trimesters of pregnancy.
Marcolin, Alessandra Cristina, Valéria Cristina Sandrim, Alessandra Cristina Marcolin, Geraldo Duarte, Salim Demétrio Jorge Neto, Edward Araujo Júnior, Ricardo Carvalho Cavalli, Palei, Ana Carolina Taveiros, Araujo Júnior, Edward, Tanus-Santos, José Eduardo, Duarte, Geraldo, Sandrim, Valéria Cristina [UNESP], Lorena Machado Amaral, Sandrim, Valéria Cristina, Amaral, Lorena Machado, José Eduardo Tanus-Santos, Jorge Neto, Salim Demétrio, Machado, Jackeline Souza Rangel, Ana Carolina Taveiros Palei, Cavalli, Ricardo Carvalho, Jackeline Souza Rangel Machado   +20 more
core   +1 more source

Fetal cerebral Doppler changes and outcome in late preterm fetal growth restriction: prospective cohort study [PDF]

, 2020
Objectives: To explore the association between fetal umbilical and middle cerebral artery (MCA) Doppler abnormalities and outcome in late preterm pregnancies at risk of fetal growth restriction.
Graupner, O., Frusca, T.,, Cesari, E., Gordijn, S., Fantasia, I., Krofta, L.,, K. Hecher, Gordijn, S J, Bilardo, C. M., Brodszki, Jana, Raio, L.,, Calda, P., Maruotti, G. M.,, Gordijn, SJ, R. K. Sande, Maruotti, G M, Krofta, L, Prefumo, F.,, E. Cesari, Bhide, A, Ferrazzi, E.,, Breeze, A.C., Cesari, E, Cerny, A., Sande, R. K.,, H. Wolf, Marlow, N, Lobmaier, S M, Valensise, H., T. Stampalija, Papageorghiou, Aris, Calda, P.,, Pickles, T.,, Myklestad, K., TRUFFLE-2 Group, Presti, D. Lo, Wolf, H, Casagrandi, D., Gyselaers, W.,, Lees, C. C.,, Georg, Macharay Georg Macharey, Marlow, N.,, E. Ferrazzi, Lobmaier, S.M., Eggebo, T. M., Maruotti, G, G. H. A. Visser, Sande, R.K., Ferrazzi, E, Thornton, J.,, Macsali, F., Maruotti, G.M., Ebbing, C.,, P. Lindgren, Arabin, B.,, Stampalija, T.,, Ferrazzi, E., Eggebo, T., J. Richter, Maruotti, G., Bilardo, CM, Prefumo, F., Visser, GHA, Lees, C. C., Visser, G., Stampalija, T,, Stampalija, T., Brodszki, J.,, Visser, G. H. A.,, Ebbing, C., Lobmaier, S., Valensise, H, Mylrea-Foley, B., W. Gyselaers, J. Thornton, Greimel, P., Breeze, AC, Napolitano, R, Visser, G H A, Lobmaier, S. M.,, Cesari, E.,, Raio, L, Maruotti, GM, Tiralongo, G., Ganzevoort, W, Mecacci, F, Lobmaier, SM, Breeze, A, Bhide, A., Marsal, K., Ferrari, F., J. Brodszki, Vietheer, A., Lindgren, P, Ganzevoort, W.,, Derks, J, Breeze, A., N. Marlow, K. Myklestad, Richter, J., Van Holsbeke, C., Brodszki, J., Bergman, Eva, I. Fantasia, Martinelli, P., Wee, L, I. Cetin, Georg, M., A. Berger, F. Prefumo, Valensise, H.,, Arabin, B, Papageorghiou, A., TRUFFLE-2 Group, ., Frusca, T., B. Arabin, Berger, A., L. Krofta, Wee, L.,, Arabin, B., Lees, C.C., Brezinka, C., S. M. Lobmaier, Bhide, A.,, Marlow, N., Mylrea‐Foley, B., Berger, A, the TRUFFLE-2 Group, Lees, CC, Sande, R K, Gordijn, S. J., L. Wee, Visser, G, Sarno, L., Hofstaetter, C., Lees, C., T. Pickles, Lund University., A. Bhide, T. Frusca, Hecher, K.,, Thilaganathan, B., Sande, R. K., Lindgren, P., Klaritsch, P., Krofta, L., Hecher, K., Maruotti, G. M., Ostermayer, E., Mullins, E., R. Napolitano, Myklestad, K, Bergman, Eva,, Wolf, H.,, Bilardo, C. M.,, L. Raio, Peasley, R., Ghi, T., Richter, J, F. Mecacci, Lobmaier, S, Ebbing, C, P. Klaritsch, E. Bergman, Cetin, I.,, G. M. Maruotti, Pickles, T., Breeze, A. C.,, C. Ebbing, Bilardo, C.M., Brodszki, Jana,, Thornton, J., H. Valensise, Ramoni, A., Devlieger, R., Wolf, H., Lees, C, S. J. Gordijn, Gordijn, S. J.,, Lindgren, P.,, Derks, J.,, Simeone, S., Cetin, I, Mecacci, F., Brodszki, J, Ganzevoort, W., Raio, L., Cetin, I., Klaritsch, P.,, Wee, L., C. C. Lees, Thornton, J, Derks, J., Gyselaers, W, Berger, A.,, Lees, C C, A. C. Breeze, Napolitano, R.,, Myklestad, K.,, Klaritsch, P, Duvekot, J., Richter, J.,, Prefumo, F, Valcamonico, A., C. M. Bilardo, Bergman, E., Breeze, A. C., GYSELAERS, Wilfried, Hecher, K, Dall'Asta, A., Visser, G. H. A., Lobmaier, S. M., Seikku, L., Visser, G.HA., Sande, RK, Gordijn, S.J., Breeze, A C, P. Calda, Napolitano, R., Gyselaers, W., J. Derks, Pickles, T, Bilardo, C M, Frusca, T, Bergman, E, Calda, P, Stampalija, T, Fratelli, N., Gordijn, S, W. Ganzevoort, Mecacci, F.,   +230 more
core   +3 more sources