Results 151 to 160 of about 103,960 (266)

Genetic Contribution to Asthma Informs Acute Chest Syndrome Pathophysiology and Risk Stratification

American Journal of Hematology, EarlyView.
ABSTRACT Acute chest syndrome (ACS) is a severe complication of sickle cell disease (SCD) occurring in ~50% of patients, some presenting frequent episodes. We lack tools to identify patients at high risk of ACS occurrence or frequent episodes. Epidemiological studies have found an association between asthma and ACS, but whether this link is causal is ...
Sara El Aouhel, Vanessa Bellegarde, Stennio Da Silva Faria, Tristan St‐Laurent, Estelle Lecluze, Anne‐Laure Pham Hung d’Alexandry d’Orengiani, Frédéric Galactéros, Pablo Bartolucci, Marc‐André Legault, Guillaume Lettre, Thomas Pincez   +10 more
wiley   +1 more source

Skin cancer risk in hereditary mixed cancer syndromes. [PDF]

Hered Cancer Clin Pract
Nikkola V, Alakoski A, Mecklin JP, Seppälä TT, Nikkola J, Schrader K.   +5 more
europepmc   +1 more source

The Hitchhiker's Guide to the Surface Code. [PDF]

Entropy (Basel)
Zhang F, Chen J.
europepmc   +1 more source

Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex

American Journal of Hematology, EarlyView.
ABSTRACT The epidemiology of myelodysplastic syndromes/neoplasms (MDS) is challenging to define due to inconsistent reporting, complex diagnostic procedures, and evolving diagnostic criteria. Using the National MDS Natural History Study—a prospective cohort with centrally adjudicated histopathology and genetic variant review—we characterized the ...
Nancy Gillis, Christelle Colin‐Leitzinger, Yi‐Han Tang, Michael Otterstatter, Seth Sherman, Ling Zhang, Lynn C. Moscinski, Mary Ellen Walker, Jeffrey S. Painter, Gregory A. Abel, Tareq Al Baghdadi, H. Joachim Deeg, James M. Foran, Steven D. Gore, Alexandra M. Harrington, Steven H. Kroft, Jane Jijun Liu, Wael Saber, Shamsuddin Virani, Rafael Bejar, R. Coleman Lindsley, Eric Padron, Matthew J. Walter, Rami Komrojki, Amy E. DeZern, Mikkael A. Sekeres   +25 more
wiley   +1 more source

Combining plasma biomarkers, clinical parameters, and neuroimaging features for differential diagnosis of Parkinson's disease and atypical parkinsonian syndromes: a multidimensional modeling approach. [PDF]

Front Aging Neurosci
Yao J, Ma J, Li P, Liao X, Zan J, Hu L, Li G.   +6 more
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the <i>STRC</i> Gene. [PDF]

Otol Neurotol Open
Balatková Z, Svobodová V, Koucký V, Libáková Z, Kameníková A, Šafka Brožková D, Komarc M, Bonaventurová M, Kruntorád V, Čada Z.   +9 more
europepmc   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Laparoscopy for non-palpable undescended testis: comparing outcomes in syndromic and non-syndromic children. [PDF]

Pediatr Surg Int
Byström AR, Hallabro N, Selin C, Anderberg M, Börjesson A, Salö M.   +5 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source