Results 181 to 190 of about 301,813 (312)

Implementation of a Coarctation Watch Clinical Practice Guideline: An Evidence-Based Quality Improvement Project

Coarctation of the Aorta remains challenging to diagnose in the prenatal period. Coarctation of the Aorta (CoA) accounts for 5% of congenital heart disease in infants.
Park, Madeline; Hogan, Whitnee; Schiefelbein, Julieanne
core  

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

Uveal melanoma: ESMO-EURACAN Clinical Practice Guideline for diagnosis, treatment and follow-up. [PDF]

ESMO Open
Piperno-Neumann S, Angi M, Ascierto PA, Baurain JF, Burgmans MC, Cassoux N, Coupland SE, Dendale R, Fortuna A, Gastaud L, Gutierrez-Miguelez C, Heegaard S, Jager MJ, Kapiteijn E, Keilholz U, Kilic E, Marinkovic M, Moulin A, Nathan P, Patel SP, Pica A, Piulats JM, Ryll B, Sacco JJ, Sauerwein W, Schlaak M, Stedman B, Valente A, Verdijk RM, Verhoef C, Michielin O, ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org.   +31 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

Clinical practice guideline for assessment and management of depression in India. [PDF]

Indian J Psychiatry
Tripathi A, Shukla R, Kar SK, Gupta S, Saran P, Pattojoshi A, Rao T.   +6 more
europepmc   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Japanese Clinical Practice Guideline for Diabetes 2019

Journal of Diabetes Investigation, 2020
Eiichi Araki, Atsushi Goto, Tatsuya Kondo, Mitsuhiko Noda, Hiroshi Noto, Hideki Origasa, Haruhiko Osawa, Akihiko Taguchi, Yukio Tanizawa, Kazuyuki Tobe, Narihito Yoshioka   +10 more
doaj   +1 more source

AASLD AST Practice Guideline on adult liver transplantation: Candidate evaluation. [PDF]

Hepatology
Dove L, Chadha RM, Lai JC, DiMartini A, Liapakis A, Parikh ND, Firpi-Morell R, Conteh L, Fallon M, Trotter J, Ladner DP, Sapisochin G, Lucey MR.   +12 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Managing Blood Pressure in Dialysis Patients: A Summary of UK Clinical Practice Guideline. [PDF]

Kidney Int Rep
Dasgupta I, Adam M, Durman K, Fan SLS, Forbes A, Jenkinson E, Mallindine C, McCaffery K, Sinha MD, Stewart D, Swift PA, Doulton TWR.   +11 more
europepmc   +1 more source