Results 71 to 80 of about 209,170 (269)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Health‐related quality of life following total minimally invasive, hybrid minimally invasive or open oesophagectomy: a population‐based cohort study

BJS (British Journal of Surgery), EarlyView., 2020
All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro, J. H. Kauppila, S. Markar, A. Johar, P. Lagergren   +4 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Lactate dehydrogenase activity and total protein as diagnostic markers for cavitary effusions and identification of neoplastic effusions in dogs and cats [PDF]

Ciência Rural
: The analysis and classification of cavitary effusions play a crucial role in determining a patient’s diagnosis and prognosis. This prospective study assed ed the activity of Lactate Dehydrogenase (LDH) and the concentration of Total Protein (TP) in ...
Nathália Viana Barbosa, Rúbia Schallenberger da Silva, Ana Martiele Engelmann, Renata Bonamigo, Camila Benaduce Emanuelli Mello, Cinthia Melazzo de Andrade   +5 more
doaj   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

CD14 Plays a Critical Role in Pain and Inflammation Across Multiple Models of Post‐traumatic Osteoarthritis

Arthritis &Rheumatology, EarlyView.
Objective We employed global genetic deletion of CD14 and intra‐articular CD14 blockade across multiple murine osteoarthritis (OA) models that vary in severity of pathology and rate of progression to test the hypothesis that CD14 inhibition attenuates synovial inflammation and associated pain during disease progression.
Kevin G. Burt, Sanique M. South, Natalie S. Adamczyk, Vu Nguyen, Shingo Ishihara, Cheng Zhou, Kate L. Sharp, Sung Y. Kim, Anna E. Rapp, Baofeng Hu, Lance A. Murphy, Li‐Yin Hung, De'Broski Herbert, Joshua F. Baker, Robert L. Mauck, Timothy M. Griffin, Anne‐Marie Malfait, Rachel E. Miller, Carla R. Scanzello   +18 more
wiley   +1 more source

B-cell multicentric lymphoma in a creole mare - a case report [PDF]

Arquivo Brasileiro de Medicina Veterinária e Zootecnia
Lymphomas are neoplasms of origin in lymphocytes, rarely reported in equines, and classified as multicentric, alimentary, mediastinal, cutaneous, and extranodal in this species.
T.G. Cristo, L. Marian, T.C. Valente, J.J.S. Sá, E.V. Rocha, N.C.C.A. Fernandes, C.S.C. Borges, R.A. Casagrande   +7 more
doaj   +1 more source