Results 201 to 210 of about 3,463,486 (343)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Pathologic Complete Response After Enfortumab Vedotin Plus Pembrolizumab in Node-positive Upper Tract Urothelial Carcinoma. [PDF]

In Vivo
Kikuchi K, Kobari Y, Nakamura K, Shibusawa K, Ikeda T, Nakayama T, Fukuda H, Yamamoto T, Yoshida K, Iizuka J, Ishida H, Nagashima Y, Takagi T.   +12 more
europepmc   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Uniportal video-assisted thoracoscopic surgery apicoposterior segmentectomy with radical lymphadenectomy: a high-complexity case with educational value. [PDF]

Kardiochir Torakochirurgia Pol
Marciniak Ł, Kowalewski J.
europepmc   +1 more source

Upper Cervical Cord Area as a Biomarker of Conversion to Secondary Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study assessed whether upper cervical cord area (UCCA) measured on routine brain MRI can serve as a biomarker of conversion to SPMS. Methods This is a single‐center retrospective cohort study of RRMS patients with cross‐sectional and longitudinal analyses of clinical and MRI data. Future SPMS converters were matched by age, sex,
Nabil K. El Ayoubi, Sola Al Ghazal, Salem Hannoun, Medhat A. Siddik, Nour M. Najjar, Jim Dagher, Joseph Abboud, Myriam G. Semaan, Samia J. Khoury   +8 more
wiley   +1 more source

Combined robot-assisted simple prostatectomy and laparoscopic nephrectomy: a case series. [PDF]

J Med Case Rep
Khanmammadova N, Gao B, Wang J, Nguyen DT, Jiang D, Nguyen TT, Hassas N, Ali SN, Myklak K, Shahait M, Lee DI.   +10 more
europepmc   +1 more source

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Prediction of high-dose regions in the jaw as a basis for decision-making in dental rehabilitation prior to radiotherapy in the head and neck area. [PDF]

Clin Transl Radiat Oncol
Staufenbiel I, Adam K, Flohr M, Wichmann J, Christiansen H, Schlueter N, Clare Moog LJ, Blach R, Vach K, Merten R.   +9 more
europepmc   +1 more source

Validation of the Pediatric Arthritis Ultrasound Scoring System for the Elbow, Wrist, and Finger Joints in Children With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective We aimed to validate the Pediatric Arthritis Ultrasound Scoring System (PAUSS) for upper extremity joints in children with juvenile idiopathic arthritis (JIA). Methods Children with JIA were evaluated for elbow, wrist, or finger arthritis by clinical examination (CE) and musculoskeletal ultrasound (MSUS) with images scored according to the ...
Patricia Vega‐Fernandez, Pinar Ozge Avar‐Aydin, Kelly Rogers, Daniel J. Lovell, Jennifer Huggins, Alexei Grom, Hermine I. Brunner, Grant S. Schulert, Sheila T. Angeles‐Han, Mekibib Altaye, Amy Cassedy, Arthur B. Meyers, Tracy V. Ting   +12 more
wiley   +1 more source

A rare recurrence of hydatid cyst with chest wall invasion: a case report. [PDF]

Front Med (Lausanne)
Çakmak H.
europepmc   +1 more source