Results 191 to 200 of about 479,454 (261)

Optimizing the patient journey: Insights from early implementation of long-acting cabotegravir and rilpivirine in four urban Ryan White-funded clinics in the United States. [PDF]

J Int AIDS Soc
Erguera XA, Smith MB, Pareek P, Dawdani A, Dance KV, Walker RS, Grochowski J, Oskarsson J, Hickey MD, Johnson MO, Sauceda J, Gutierrez JI, Montgomery ET, Colasanti JA, Collins LF, McNulty MC, Koester KA, Christopoulos KA.   +17 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

Nutrition in Oncology: Overcoming Challenges to Optimize the Patient Journey from Prehabilitation to Rehabilitation. [PDF]

Oncol Ther
Klek S, Laviano A, Chrostek H, Cardenas D.   +3 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases. [PDF]

Orphanet J Rare Dis
Dumitriu A, Miles G, Crespo A, Maksimova I, Ip Q, Jordan M, Leiras C, Yu T, Araujo R, Petruski-Ivleva N.   +9 more
europepmc   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Proton Beam Therapy and the AYA Sarcoma Patient Journey: Highlighting Needs from Diagnosis to Survivorship. [PDF]

Cancers (Basel)
Harris MM, Ahmed SK.
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

A comprehensive overview of patient journey and management decision pathway for myelofibrosis in India: INLAND survey. [PDF]

BMC Cancer
Chakrabarti P, Bhave A, Harrison C, Seth T, Mathews V, Shetty D.   +5 more
europepmc   +1 more source