Results 51 to 60 of about 51,344 (275)

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Pediatric acute liver failure of undetermined cause: A research workshop [PDF]

Hepatology, 2017
Pediatric acute liver failure (PALF) is a potentially devastating condition that occurs in previously healthy children of all ages and frequently leads to a rapid clinical deterioration. An identified cause for liver injury is lacking in approximately 30% of cases. Children with undetermined diagnosis have lower spontaneous survival and higher rates of
Estella M, Alonso, Simon P, Horslen, Edward M, Behrens, Edward, Doo   +3 more
openaire   +2 more sources

Acute liver failure after recommended doses of acetaminophen in patients with myopathies

, 2011
Objective: To determine the likelihood that recommended doses of acetaminophen are associated with acute liver failure in patients with myopathies. Design: Retrospective analysis. Setting: Level III pediatric intensive care unit.
Ceelie, I. (Ilse), Shinya Ito, Tibboel, Dick, Ron A. A. Mathot, Gijsen, V.M.G.J. (Violette), Coranne D. Tesselaar, Tesselaar, Coranne D., Mathot, RAA, Koren, G, Laura P. James, Mathôt, R.A.A. (Ron), Koren, Gideon, James, L.P. (Laura), Ilse Ceelie, Tibboel, D. (Dick), Gideon Koren, Mathot, Ron A. A., Dick Tibboel, Wildt, S.N. (Saskia) de, Koren, G. (Gideon), James, Laura P., Ito, Shinya, Saskia N. de Wildt, Ceelie, Ilse, Gijsen, Violette, Tesselaar, C.D. (Coranne), Violette Gijsen, Tesselaar, CD (Coranne), Ito, S. (Shinya), Ito, S, de Wildt, Saskia, de Wildt, Saskia N., James, LP   +32 more
core   +1 more source

Clinical implications of hepatitis A virus ribonucleic acid detection and genotyping in acute liver failure in children in Argentina [PDF]

, 2010
Fil: Sasbón, Jorge S. Hospital de Pediatría Dr. Juan P. Garrahan. Unidad de Trasplante de Hígado y Cuidados Intensivos; Argentina.Fil: Buamscha, Daniel. Hospital de Pediatría Dr. Juan P. Garrahan.
Cuarterolo, Miriam, Moreiro, Rita, Vladimirsky, Sara, Imventarza, Oscar, Soto, Sonia, Devictor, Denis, Ciocca, Mirta, Castro, Raúl, Sasbón, Jorge, Gianivelli, Silvina, Salip, Gonzalo, Brajterman, Leonardo, Cambaceres, Carlos, Otegui, Lucio, González, Jorge E., Buamscha, Daniel, Munné, María Silvina   +16 more
core   +1 more source

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

CALFAN (Low γ-Glutamyl Transpeptidase (GGT) Cholestasis, Acute Liver Failure, and Neurodegeneration) Syndrome: A Case Report with 3-Year Follow-Up after Liver Transplantation in Early Adulthood

Case Reports in Hepatology, 2023
CALFAN syndrome is an extremely rare disease consisting of recurrent pediatric acute liver failure (PALF), neurodegenerative diseases, and skeletal abnormalities associated with SCYL1 gene mutation.
Mariam Youssef, Katherine L. Mascia, Brendan McGuire, Chirag R. Patel, Sameer Al Diffalha, Deepti Dhall, Goo Lee   +6 more
doaj   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Long-term persistance of the pathophysiologic response to severe burn injury. [PDF]

, 2011
Main contributors to adverse outcomes in severely burned pediatric patients are profound and complex metabolic changes in response to the initial injury. It is currently unknown how long these conditions persist beyond the acute phase post-injury.
Kraft, Robert, Marc G Jeschke, David N Herndon, Felicia N Williams, Gabriela A Kulp, Ronald P. Mlcak, Oscar E. Suman, Felicia N. Williams, Jeschke Marc G., Kulp, Gabriela A., Celeste C. Finnerty, Suman, Oscar E., Gerd G. Gauglitz, Kulp Gabriela A., Marc G. Jeschke, Finnerty Celeste C., Gabriela A. Kulp, Gerd G Gauglitz, Mlcak, Ronald P., David N. Herndon, Gauglitz, Gerd G., Herndon, David N., Jeschke, Marc G., Herndon David N., Finnerty, Celeste C., Mlcak Ronald P., Ronald P Mlcak, Suman Oscar E., Williams, Felicia N., Kraft Robert, Williams Felicia N., Gauglitz Gerd G., Oscar E Suman, Celeste C Finnerty, Robert Kraft   +34 more
core   +1 more source