Results 51 to 60 of about 1,151,923 (210)

Modelling Down Syndrome leukaemia using transchromosomic ES cell lines. [PDF]

, 2009
PhDAMKL (acute megakaryoblastic leukaemia) accounts for at least 50% of all cases of acute myeloid leukaemia (AML) associated with Down Syndrome (DS). Every tenth neonate with DS develops Transient Myeloproliferative Disorder (TMD), a self-regressing
De Vita, Serena
core   +4 more sources

Old data, new tricks: Comprehensive computational analysis of 10 years of multi‐center EuroFlow acute myeloid leukemia diagnostic immunophenotypic data

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Acute myeloid leukemia (AML) is characterized by high genotypic and immunophenotypic heterogeneity. We collected an extensive dataset containing 5366 flow cytometry files from 885 AML patients, stained with the EuroFlow acute leukemia orientation tube (ALOT) and AML/MDS panel, acquired in a standardized way at eight centers over a period of 10 
Sarah Bonte, Rosan Olsman, Sofie Van Gassen, Sergio Matarraz, Neus Villamor, Stefan Nierkens, Paula Fernandez, Elaine Sobral da Costa, Carmen‐Mariana Aanei, Alberto Orfao, Jacques J. M. van Dongen, Yvan Saeys, Mattias Hofmans, Vincent H. J. van der Velden   +13 more
wiley   +1 more source

Livedo reticularis by hypothermia during anesthesia for dental treatment in Down's syndrome patient [PDF]

Revista Brasileira de Anestesiologia
Background: Livedo reticularis is a benign dermatological condition characterized by ischemic areas permeated by erythematous-cyanotic areas in a lacy pattern, and may be transient or permanent and is frequently associated with body exposure to cold ...
Heber de Moraes Penna, Norma Sueli Pinheiro Modolo, Dário Humberto de Paiva   +2 more
doaj   +4 more sources

Occipital irregular delta activity in focal epilepsy

Epileptic Disorders, EarlyView.
Abstract Objective Nonspecific occipital irregular delta activity (OID) is a common finding in focal epilepsy (FE). However, the significance of OID and its relationship to the underlying etiology of FE remain largely unstudied. This study aimed to investigate the relationship between OID and the etiology of FE, as well as the relationship between OID ...
Mónika Bessenyei, Miklós Emri, Johanna Dömötör, Béla Clemens   +3 more
wiley   +1 more source

Down's Syndrome: cost, quality and value of life [PDF]

, 2001
Routine prenatal screening is based on the assumption that it is reasonable for prospective parents to choose to prevent a life with Down's syndrome. This paper questions whether Down's syndrome necessarily involves the costs, limitations and suffering ...
Alderson, P, Alderson, Priscilla
core  

β‐Hydroxybutyrate reduces neuronal excitability via GIRK channels

Epilepsia, EarlyView.
β‐Hydroxybutyrate decreases neuronal excitability by activating GIRK channels through HCAR2 signaling, providing a cellular mechanism that may contribute to the antiseizure effects of the ketogenic diet. Abstract Objective The ketogenic diet is used to treat drug‐resistant epilepsy, yet the molecular mechanisms coupling metabolic state to seizure ...
Soudabeh Naderi, John Williamson, Jhanvi Patel, Samikksha Kumar, Huayu Sun, Lucy Dang Nguyen, Katarzyna Rękawek, Ifrah Zawar, Jaideep Kapur   +8 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

Gomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Nikos Papadogiannakis, Maj A Hultén, Papadogiannakis, Nikos, Westgren, Magnus, Jonsson, Anna Maria, Tankimanova, Maira, Patel, Suketu D., Iwarsson, Erik, Maira Tankimanova, Anna Jonsson, Magnus Westgren, Erik Iwarsson, Hultén, Maj A., Suketu D Patel   +13 more
core   +1 more source