Results 161 to 170 of about 31,257 (277)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Maternal Health Financing – Issues and Options: A Study of Chiranjeevi Yojana in Gujarat [PDF]

Government of Gujarat announced a “Chiranjeevi Yojana” in April 2005. The objective of this scheme is to encourage private medical practitioners to provide maternity health services in remote areas which record the highest infant and maternal mortality ...
Bhat Ramesh, Singh, Amarjit, Saha Somen, Maheshwari, Sunil Kumar   +3 more
core  

Getting MAD (Medical Aid in Dying) in Canada [PDF]

Palliative and Supportive Care, 2014
openaire   +2 more sources

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Examining Public-Facing Hospice Medical Aid in Dying Participation Policies in Legalizing US Jurisdictions [PDF]

Innov Aging
Becker TD, Duberstein P, Luth EA, Kumar S, Nemeth S, Phillips K, Kota V, Kozlov E.   +7 more
europepmc   +2 more sources

Aggregating 23 years of data on medical aid in dying in the United States. [PDF]

J Am Geriatr Soc, 2022
Kozlov E, Nowels M, Gusmano M, Habib M, Duberstein P.   +4 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Can Facilitated Aid in Dying Be Permitted by 'Double Effect'? Some Reflections from a Recent New Zealand Case

, 2019
While the Doctrine of Double Effect (DDE) remains controversial in ethical circles, it continues to be recognised in common law courts. In 2015, the High Court of New Zealand became the latest to acknowledge the existence of the DDE, in a case that ...
King, Mike, Gavaghan, Colin
core  

Perceptions about medical aid in dying among healthcare workers in Pakistan. [PDF]

Palliat Support Care
Zaheer H, Waqar MA, Subash T, Elahi A, Atif S, Ambreen A, Taj A, Jabeen I.   +7 more
europepmc   +1 more source