Results 81 to 90 of about 631,764 (332)

Association of Changes in Hand Pain With BMI, Employment, and Mental Well‐Being Over Four Years in Patients With Hand Osteoarthritis

Arthritis Care &Research, EarlyView.
Objective We aimed to characterize patients with hand osteoarthritis (OA) with deteriorating or improving hand pain and to investigate patients achieving good clinical outcome after four years. Methods We used four‐year annual Australian/Canadian Hand Osteoarthritis Index (AUSCAN) pain subscale (range 0–20) measurements from the Hand OSTeoArthritis in ...
Coen van der Meulen, Lotte A. van de Stadt, Saskia J. Buck, Frits R. Rosendaal, Sietse E. S. Terpstra, Margreet Kloppenburg   +5 more
wiley   +1 more source

Teaching perspectives on the communication of difficult news of genetic conditions to medical students

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023
Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse, Tracey Weiler, Elizabeth A. Roth, Sharmila Upadhya, Helga V. Toriello, Ariel J. VanLeuven, John R. Norris, John C. Carey, Andrew K. Sobering   +8 more
wiley   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Pregnancy Outcomes of Targeted Synthetic Disease‐Modifying Antirheumatic Drugs Among Patients With Autoimmune Diseases: A Scoping Review

Arthritis Care &Research, EarlyView.
Objective Targeted synthetic disease‐modifying antirheumatic drugs (tsDMARDs) have expanded the management of autoimmune diseases, including rheumatic diseases. As the use of these drugs grows, it is important to understand their effects on pregnancy.
Vienna Cheng, Neda Amiri, Vicki Cheng, Ursula Ellis, Jacquelyn J. Cragg, Mark Harrison, Laurie Proulx, Mary A. De Vera   +7 more
wiley   +1 more source

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Focus on the treatment of hereditary muscular diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI: 10.3969/j.issn.1672-6731.2019.05 ...
Cheng ZHANG
doaj  

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases

Biomédica: revista del Instituto Nacional de Salud
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are ...
Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez   +6 more
doaj   +1 more source

Is adermatoglyphia an additional feature of Kindler Syndrome? [PDF]

Anais Brasileiros de Dermatologia, 2015
A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired ...
Hiram Larangeira de Almeida Jr, Fernanda Mendes Goetze, Kenneth Fong, Joey Lai-Cheong, John McGrath   +4 more
doaj   +2 more sources

Idiopathic Pulmonary Fibrosis Caused by Damaged Mitochondria and Imbalanced Protein Homeostasis in Alveolar Epithelial Type II Cell

Advanced Biology, EarlyView.
By systematizing a large body of evidence and propose a cascade relationship between protein homeostasis, endoplasmic reticulum stress, mitochondrial dysfunction, and pro‐fibrotic factor, providing a theoretical basis for ATII cells dysfunction as a possible pathophysiological initiating event for idiopathic pulmonary fibrosis.
Zhaoxiong Dong, Xiaolong Wang, Peiwen Wang, Mingjian Bai, Tianyu Wang, Yanhui Chu, Yan Qin   +6 more
wiley   +1 more source

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai   +5 more
wiley   +1 more source