Results 171 to 180 of about 344,196 (269)

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

Fulminant Idiopathic Intracranial Hypertension Presenting With Bitemporal Hemianopia Mimicking Chiasmal Pathology in Early Pregnancy: A Case Report. [PDF]

Cureus
Ruwanpathiranage T, Sebastiampillai BS, Elsahy T.   +2 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Robot-guided stereotactic single-stage evacuation of six intracranial abscesses: a rare case report with literature review. [PDF]

Chin Neurosurg J
Wei Y, Zhu C, Wang H, Wang J, Guo P, Ou S, Wang J.   +6 more
europepmc   +1 more source

Early Versus Late Recurrence in Olfactory Neuroblastoma: A Multi‐Institutional Analysis of Predictive Risk Factors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory neuroblastoma (ONB) exhibits variable recurrence patterns, with significant late recurrences occurring years after treatment. We investigated cutoff periods to define late recurrence and identified predictors that distinguish patients at risk of late recurrence from those considered cured.
Alexandria Harris, Anthony Tang, Nicholas Fung, Joao Paulo Almeida, Pierre‐Olivier Champagne, Juan Fernandez‐Miranda, Paul A. Gardner, Peter Hwang, Aristotelis Kalyvas, Chirag Patel, Zara M. Patel, Maria Peris Celda, Carlos D. Pinheiro‐Neto, Olabisi Sanusi, Carl H. Snyderman, Brian D. Thorp, Jamie J. Van Gompel, Georgios Zenonos, Nathan T. Zwagerman, Diana Bell, Edward C. Kuan, Eric W. Wang, Mathew Geltzeiler, Garret Choby   +23 more
wiley   +1 more source

Author response to Sinha, "Comment on "Intracranial hemorrhage after ischemic stroke in patients on direct oral anticoagulants: Results from a prospective observational study"". [PDF]

Neurol Res Pract
Purrucker J, Haas K, Sieber M, Rücker V, Heuschmann PU, Veltkamp R.   +5 more
europepmc   +1 more source

Healing Following Endoscopic Reconstruction of the Anterior Skull Base in Patients With Sinonasal Malignancies

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro, Leonardo Calvanese, Piergiorgio Gaudioso, Stefano Taboni, Mosè Sozzi, Gloria Schiavo, Alessandra Sordi, Isabelle Dohin, Francesca Mularoni, Giuseppe Roccuzzo, Ester Orlandi, Barbara Vischioni, Gianluca Dalfino, Carlotta Pessina, Roberto Maroldi, Mario Turri‐Zanoni, Cesare Piazza, Paolo Battaglia, Maurizio Bignami, Paolo Castelnuovo, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +22 more
wiley   +1 more source

DBSsync: combining intracranial and multimodal data to investigate new biomarkers in Parkinson's disease. [PDF]

NPJ Parkinsons Dis
Vivien J, Stensholt CE, Hortmann L, Hendel M, Memarpouri A, Lofredi R, Habets JGV, Cavallo A, Feldmann LK, Kühn AA.   +9 more
europepmc   +1 more source

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson, Madeline P. Bald, Lauren McLeod, Adam J. Skelton, Nicolaus D. Knight, Do‐Yeon Cho, Justin Turner, Hari Jeyarajan, Kristen O. Riley, Bradford A. Woodworth   +9 more
wiley   +1 more source

Radiological features and surgical outcome of a rare neurenteric cyst in Meckel's cave: illustrative case. [PDF]

J Neurosurg Case Lessons
Poncelet F, Kenis C, Vanopdenbosch L, De Muynck S, Janssen A, Maes H, Verhaeghe A, Vantomme N.   +7 more
europepmc   +1 more source