Results 291 to 300 of about 3,182,382 (382)

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell, Kate Neal, Heather J. Church, James A. Cooper, Karolina M. Stepien   +8 more
wiley   +1 more source

The gut microbiome composition associates with bipolar disorder and illness severity.

Journal of Psychiatric Research, 2017
S. Evans, C. Bassis, R. Hein, S. Assari, Stephanie A. Flowers, Marisa Kelly, V. Young, Vicky E Ellingrod, M. McInnis   +8 more
semanticscholar   +1 more source

Thrombocytopenia and Anemia After Cardiac Surgery

American Journal of Hematology, EarlyView.
Myriam Beshai, Nour Alhomsi, Theodore E. Warkentin   +2 more
wiley   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

MEK1/2 inhibition decreases pro-inflammatory responses in macrophages from people with cystic fibrosis and mitigates severity of illness in experimental murine methicillin-resistant <i>Staphylococcus aureus</i> infection. [PDF]

Front Cell Infect Microbiol
De M, Serpa G, Zuiker E, Hisert KB, Liles WC, Manicone AM, Hemann EA, Long ME.   +7 more
europepmc   +1 more source

Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman, John Wallert, Matthew Halvorsen, Bjorn Roelstraete, Elles de Schipper, Nora I. Strom, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert, David Mataix‐Cols, Christian Rück, James J. Crowley   +39 more
wiley   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Considering the animating ethos of designing digital first unemployment services: On the motivation of others

Australian Journal of Social Issues, EarlyView.
Abstract This paper explores the animating ethos of digital unemployment services. Unlike human‐to‐human services, where the intention of policy is normally mediated by professionals, digital services are fully designed in the policy imagination. As a result, it is a pressing issue to understand the ethos that animates their development.
Ray Griffin, Antoinette Jordan, Aisling Tuite   +2 more
wiley   +1 more source