Results 131 to 140 of about 11,437,610 (385)

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source

Ventricular structure and function after radical correction of the tetralogy of Fallot. [PDF]

, 1967
K A Hallidie-Smith, Marcy Zenobi‐Wong, Michelle Dulake, C M Oakley, J. F. Goodwin   +4 more
openalex   +1 more source

Implantable Self‐Powered Systems for Electrical Stimulation Medical Devices

Advanced Science, EarlyView.
In this paper, the design strategy and clinical application of ISS are discussed in depth from four aspects: the design and optimization of the energy collection module, the selection and preparation of adaptive electrode materials, the innovation of system design strategy, and the biological effect of electrical stimulation of ISS.
Xi Cui, Li Wu, Chao Zhang, Zhou Li
wiley   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

Echocardiography evaluation of left ventricular diastolic function in elderly women with metabolic syndrome

Open Medicine, 2019
To date, we found no published reports on the effects of metabolic syndrome and physical activity levels on left ventricular (LV) diastolic function in elderly women aged over 65 years.
Chung Jin-Wook, Seo Dong-il, Park Yoonjung, So Wi-Young   +3 more
doaj   +1 more source

Microneedles at the Forefront of Next Generation Theranostics

Advanced Science, EarlyView.
The TOC figure illustrates the revolutionary role of microneedles in modern medicine, showcasing their dual diagnostic and therapeutic functions. On the left, microneedles access interstitial fluid for real‐time monitoring of biomarkers like glucose and hormones.
Chan Wang, Yuan Yang, Jiaqi Zhang, Hanrui Zhang, Qian Wang, Shengmei Ma, Pengfei Zhao, Zhou Li, Yuxin Liu   +8 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Medición del consumo de oxígeno del miocardio en el puerperio normal: ejemplo de eficiencia fisiológica Measurement of myocardial oxygen consumption in normal postpartum: example of physiological efficiency

Revista Colombiana de Obstetricia y Ginecología, 2005
Objetivo: determinar el consumo de oxígeno del miocardio (MVO2) en pacientes durante el puerperio temprano y comparar los resultados con los valores de MVO2 en adultos sanos publicados en otros estudios.
Alejandro Castro, Adriana Paola Barriga, Omar Perdomo   +2 more
doaj  

Berberine is a Novel Mitochondrial Calcium Uniporter Inhibitor that Disrupts MCU‐EMRE Assembly

Advanced Science, EarlyView.
Berberine, a safe and FDA‐approved drug, is identified as a novel mitochondrial calcium uniporter (MCU) inhibitor. By disrupting MCU‐EMRE interaction, Berberine prevents mitochondrial calcium overload and protects against ischemia/reperfusion injury, offering a promising therapeutic strategy for diseases linked to mitochondrial calcium dysregulation ...
Haixin Zhao, Siqi Chen, Nian Cao, Wenjun Wu, Guangqin Liu, Jun Gao, Jiayi Chen, Ting Li, Dingyi Lu, Lingmin Zeng, Haizhen Zhu, Weina Zhang, Qing Xia, Teng Li, Tao Zhou, Xue‐Min Zhang, Ai‐Ling Li, Xin Pan   +17 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source