Results 21 to 30 of about 48,940 (346)

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Seizures and epilepsy after intracerebral hemorrhage: an update [PDF]

Journal of Neurology, 2021, 268 (7), pp.2605-2615, 2022
Seizures are common after intracerebral hemorrhage, occurring in 6 to 15% of the patients, mostly in the first 72 hours. Their incidence reaches 30% when subclinical or non-convulsive seizures are diagnosed by continuous electroencephalogram. Several risk factors for seizures have been described including cortical location of intracerebral hemorrhage ...
arxiv   +1 more source

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Postpartum hemorrhage mistakes [PDF]

American Journal of Obstetrics and Gynecology, 2003
José M. Palacios‐Jaraquemada
openalex   +3 more sources

A companion to the preclinical common data elements and case report forms for neuropathology studies in epilepsy research. A report of the TASK3 WG2 Neuropathology Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force initiated the TASK3 working group to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Eleonora Aronica, Devin K. Binder, Meinrad Drexel, Chrysanthy Ikonomidou, Shilpa D. Kadam, Guenther Sperk, Christian Steinhäuser   +6 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2022
Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou, Hana Kubova, Stéphane Auvin, Massimo Mantegazza, Melissa Barker‐Haliski, Aristea S. Galanopoulou, Christopher A. Reid, Bridgette D. Semple   +7 more
wiley   +1 more source

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

Human Mutation, Volume 43, Issue 12, Page 1824-1828, December 2022., 2022
Abstract Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies.
Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A. N. Meester, Bart Loeys   +16 more
wiley   +1 more source

Safe recovery after cesarean in rural Africa: Technical consensus guidelines for post‐discharge care

International Journal of Gynecology &Obstetrics, Volume 160, Issue 1, Page 12-21, January 2023., 2023
Abstract Despite increasing cesarean rates in Africa, there remain extensive gaps in the standard provision of care after cesarean birth. We present recommendations for discharge instructions to be provided to women following cesarean delivery in Rwanda, particularly rural Rwanda, and with consideration of adaptable guidelines for sub‐Saharan Africa ...
Fredrick Kateera, Bethany Hedt‐Gauthier, Amy Luo, Anne Niyigena, Grace Galvin, Sadoscar Hakizimana, Rose L. Molina, Adeline A. Boatin, Prisca Kasonde, Juliet Musabeyezu, Joseph Ngonzi, Robert Riviello, Katherine Semrau, Félix Sayinzoga   +13 more
wiley   +1 more source

Secondary postpartum hemorrhage on day 58 of cesarean section due to uterine scar rupture [PDF]

, 2020
Secondary postpartum hemorrhage is rare and affect 0.23-3% of all pregnancies. It happens between 24 hours to 12 weeks of post-delivery. These postpartum hemorrhages occur more often during normal vaginal delivery only a small subset of postpartum ...
Gavit, Yogita B., Sharma, Deepika
core   +2 more sources