Results 71 to 80 of about 159,027 (267)

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

Orphanet Journal of Rare Diseases, 2019
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A.
Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline Lindemans, Marianna Bugiani, Nicole I. Wolf   +5 more
doaj   +1 more source

Preoperative Gemcitabine/Nab‐Paclitaxel With Concurrent Radiation Therapy for Borderline Resectable Pancreatic Cancer: A Comparative Analysis With Preoperative Chemoradiation Therapy Using Gemcitabine Alone

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background Although NCCN guidelines recommend preoperative therapy for borderline resectable pancreatic cancer (BR‐PC), it is still unclear which regimen is better. The study objective was to elucidate the prognostic significance of neoadjuvant chemoradiotherapy (NACRT) with gemcitabine/nab‐paclitaxel (GnP‐RT) compared to gemcitabine alone ...
Hirofumi Akita, Hidenori Takahashi, Yousuke Mukai, Masahiko Kubo, Shinichiro Hasegawa, Masayoshi Yasui, Takeshi Omori, Hiroshi Miyata, Hiroshi Wada, Kunihito Gotoh   +9 more
wiley   +1 more source

A Randomized Phase II Study of Subcutaneous Mosunetuzumab in Combination With Polatuzumab Vedotin Compared With Rituximab Plus Polatuzumab Vedotin in Patients With Relapsed or Refractory Large B‐Cell Lymphoma

American Journal of Hematology, EarlyView.
ABSTRACT Mosunetuzumab plus polatuzumab vedotin has shown promising activity versus rituximab plus polatuzumab vedotin (R‐Pola) in patients with relapsed/refractory (R/R) large B‐cell lymphoma (LBCL; NCT03671018). We present results from the Phase II randomized cohort, evaluating subcutaneous mosunetuzumab plus polatuzumab vedotin (Mosun‐Pola), with ...
Julio C. Chavez, Mariana Bastos‐Oreiro, Catherine Diefenbach, Izidore S. Lossos, Nirav Shah, Sarit Assouline, Adam J. Olszewski, Seema Naik, Nilanjan Ghosh, Song Pham, Michael C. Wei, Connie Batlevi, Iris To, Wahib Ead, Sneha Makadia, Elicia Penuel, Jing Jing, Lihua E. Budde   +17 more
wiley   +1 more source

Peripheral Neuropathy Associated With Proteasome Inhibitors and Immunomodulatory Drugs: A Pharmacovigilance Disproportionality Analysis Using VigiBase

Pharmacology Research & Perspectives
Immunomodulatory drugs (IMIDs) and proteasome inhibitors (PIs) are part of the frontline treatment landscape for multiple myeloma (MM). Despite their effectiveness, these drugs are associated with adverse effects, particularly clinically significant drug‐
Letícia Penna Braga, Cristiane Aparecida Menezes dePádua, Iwyson Henrique F. daCosta, Paula Lana deMiranda Drummond, Pedro Henrique Carvalho deSouza, Laura Beatriz Fonseca, Marina Alacoque Rodrigues, Jéssica Soares Malta, Adriano Max Moreira Reis   +8 more
doaj   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Correlation of vitamin D and diabetic peripheral neuropathic pain: A cross-sectional study

Journal of International Medical Research
Objective Although ample evidence exists on the association between vitamin D deficiency and diabetic peripheral neuropathy, only a few studies have distinguished between painful and painless forms.
Caixia Yao, Li Wang, Hongman Zhang, Wenping Yang, Ying Zhong, Wenli Han, Ji Xu, Yan Chen, Ping Wang, Shoucheng Zhang   +9 more
doaj   +1 more source

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

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

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

Hepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 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