Results 21 to 30 of about 168 (162)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Numerical Study of MHD Hybrid Nanofluid Flow With Multiple Slip Effects Over a Variable Porous Stretching Surface

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This work discusses the thermal performance of magnetized hybrid nanofluid flow over a variable porous stretchable surface, emphasizing the underlying physical mechanisms governing heat and mass transfer. The Cattaneo–Christov flux model is used in place of Fourier's and Fick's laws to incorporate relaxation effects, ensuring a more realistic ...
Mounirah Areshi, Abdul Bariq, Salemah A. Almutlak, Fahad Maqbul Alamrani, Zehba Raizah, Anwar Saeed   +5 more
wiley   +1 more source

Morpho‐functional analyses of the jaw apparatus in the Blue‐and‐yellow Macaw (Ara ararauna, Psittaciformes, Aves): Adaptations to feeding behavior

The Anatomical Record, EarlyView.
Abstract Macaws are renowned for processing dry, mechanically resistant fruits, yet the species‐level anatomical and functional correlates of this performance remain incompletely resolved. We examined the feeding apparatus of the Blue‐and‐yellow Macaw (Ara ararauna) using an integrated approach that combines osteology, myology, and bite‐force estimates
Sérgio R. Posso, Ana Caroline M. Barbosa, Victor R. Caciatori   +2 more
wiley   +1 more source

Bite force estimates and morphological correlations of jaw muscles in parrots

The Anatomical Record, EarlyView.
Abstract Parrots (Order: Psittaciformes) are renowned for their high bite force (BF) and morphological correlates thereof, including a highly mobile skull and two unique mandibular adductor muscles—m. pseudomasseter and m. ethmomandibularis, with the former being hypothesized to increase force output.
Ana Carolina L. Faillace, Arin Berger, Marcelo Ismar S. Santana, Adam Hartstone‐Rose   +3 more
wiley   +1 more source

AMOR DEI E AMOR FATI

TRÁGICA: Estudos de Filosofia da Imanência, 2019
No presente trabalho pretendo explorar uma convergência que não tem sido examinada, na devida proporção de sua importância, pelos comentadores tanto de Nietzsche quanto de Spinoza. Refiro-me à ancoragem metafísica da dissolução crítica do conceito de liberdade como livre arbítrio, da qual decorre uma consequência inusitada em relação ao entendimento ...
openaire   +2 more sources

Increased Risk of Intrahepatic Cholestasis of Pregnancy in Women With Systemic Lupus Erythematosus Exposed to Azathioprine

Arthritis &Rheumatology, EarlyView.
Objective To evaluate the risk of intrahepatic cholestasis of pregnancy (ICP) in azathioprine (AZA)–exposed versus unexposed systemic lupus erythematosus (SLE) pregnancies within the multicenter prospective Lupus in Pregnancy (LEGACY) cohort. Methods LEGACY is conducted at Systemic Lupus International Collaborating Clinics in Canada, South Korea, Peru,
Reem Farhat, Maria del Carmen Zamora‐Medina, Sang‐Cheol Bae, Megan R. W. Barber, Ann E. Clarke, Paul R. Fortin, Zahi Touma, Carl A. Laskin, Isabelle Malhamé, Giada Sebastiani, Christine Peschken, Manuel F. Ugarte‐Gil, Alexandra Legge, Sasha Bernatsky, Évelyne Vinet   +14 more
wiley   +1 more source

Rimplasty: An Arthroscopic Technique for Patients With Isolated Patellar Chondromalacia Based on Autologous Matrix‐induced Chondrogenesis+ and Limited Trochleoplasty

Arthroscopy Techniques, EarlyView.
Abstract Anterior knee pain is a common problem that can be difficult to treat. One potential cause of these symptoms is supratrochlear rim, which has been linked to isolated patellar chondromalacia in patients with patella alta and without any history of patellar dislocation or subluxation.
Tomasz Piontek, Bartosz Bąbik, Jakub Bąbik, Artur Banach   +3 more
wiley   +1 more source

Dual‐Scaffold Technique: Autologous Minced Cartilage and Bone Marrow Aspirate Scaffold Combined With Synthetic Collagen Membrane for Cartilage Repair

Arthroscopy Techniques, EarlyView.
Abstract Treating cartilage injuries has long been a complex challenge; however, recent progress has greatly increased the variety of effective therapeutic approaches. The minced autologous matrix‐induced chondrogenesis plus procedure for full‐thickness knee cartilage lesions uses a collagen matrix combined with shaver‐minced cartilage graft and bone ...
Leonardo Ataíde, Moises Cohen, Pedro Debieux, Camila Cohen Kaleka, José Martins Juliano Eustáquio, Lucas Barbosa   +5 more
wiley   +1 more source

Challenges and Future Directives of Synthetic Biology in Engineering Plant–Microbe Partnerships for Sustainable Agriculture

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Synthetic biology has recently proven to be a valuable tool for enhancing agriculture even in the face of environmental and biological stresses. Understanding the challenges that militate synthetic biology will assist in ensuring safe, stable, and scalable crop production.
Ben Jesuorsemwen Enagbonma, Rebaona Reaobaka Molefe‐Madlaliso, Alaba Adewole Adebayo, Oghoye Priscilla Oyedoh, Godfrey Okainemen Oribhabor, Oluwaseun Emmanuel Shittu, Olubukola Oluranti Babalola   +6 more
wiley   +1 more source