Results 61 to 70 of about 12,514 (175)

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Multiple Cranial Nerve Involvement In Cryptococcal Meningitis

Annals of Indian Academy of Neurology, 2000
Cryptococcal meningitis is an uncommon cause of multiple cranial nerve palsies. This case report illustrates one such case of cryptococcal meningitis clinically manifesting with extensive cranial nerve involvement in an HIV seronegative individual ...
Mahadevan A, Kumar A, Santosh V, Satishchandra P, Shankar S.K   +4 more
doaj  

A Protocol for Reconstructing Complex Lateral Skull Base Defects: Two Decades of Tertiary Care Experience

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To describe a multidisciplinary protocol for the resection and reconstruction of complex lateral skull base pathology, based on over two decades of experience in a high‐volume tertiary referral center in the United Kingdom. Study Design Retrospective descriptive analysis of institutional practice. Setting A high‐volume tertiary skull
Muhammad Umar Farooq, Yuri Hirayama, Jameel Muzaffar, Raghu Kumar, Charlie Huins, Peter Monksfield, James Baden, Demetrius Evriviades, Richard Irving   +8 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Clinical reasoning in feline non‐ambulatory tetraparesis or tetraplegia: Which combination of clinical information is useful?

Veterinary Record, EarlyView.
Abstract Background Non‐ambulatory tetraparesis or tetraplegia in cats may constitute a diagnostic challenge for general practitioners. Therefore, this study aimed to evaluate if clinical variables from signalment, history, clinical examination and basic ancillary tests are associated with underlying diagnoses in cats with non‐ambulatory tetraparesis ...
Guido Bertoldi, Steven De Decker
wiley   +1 more source

Benign Recurrent Sixth (Abducens) Nerve Palsy following Measles-Mumps-Rubella Vaccination

Case Reports in Pediatrics, 2015
Benign, isolated, recurrent sixth nerve palsy is rare in children. It may be associated with febrile viral illness and vaccination in exceptional circumstances although this is a diagnosis of exclusion. Here, we present the case of a 2-year-old Caucasian
Areti Bourtoulamaiou, Sohraab Yadav, Harish Nayak   +2 more
doaj   +1 more source

Ultrasound, PET/CT or temporal artery biopsy for giant cell arteritis? A prospective diagnostic accuracy study (the GAME‐study)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the diagnostic performance of ultrasound, 2‐deoxy‐2‐[18F]fluoro‐D‐glucose positron emission tomography/computed tomography (2‐[18F]FDG PET/CT) and temporal artery biopsy (TAB) in giant cell arteritis (GCA). Methods This was a prospective single‐centre diagnostic accuracy study (ClinicalTrials.gov NCT05248906).
Michael S. Hansen, Lene Terslev, Uffe M. Døhn, Viktoria Fana, Jane M. Brittain, Anne K. Wiencke, Steffen Heegaard, Mads R. Jensen, Oliver N. Klefter, Yousif Subhi, Steffen Hamann   +10 more
wiley   +1 more source

The Tutopatch® assisted surgery for complex strabismus study: TASCS‐study

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the efficacy of tendon elongation using bovine pericardium (Tutopatch®) in complex strabismus surgeries, with a specific focus on longer follow‐up of postoperative outcomes and patient satisfaction. Methods In this pre‐post cohort study, the records of all patients who underwent tendon elongation strabismus surgery with ...
Ires A. W. Verhees, Hinke Marijke Jellema, Anne‐Marie E. L. Langenhorst, B. Jeroen Klevering, Laurentius J. van Rijn, Annabel L. W. Groot   +5 more
wiley   +1 more source

Tick‐Borne Encephalitis (TBE) Vaccine in the National Immunisation Programme—For Whom, When and Where?

Acta Paediatrica, EarlyView.
ABSTRACT The incidence of Tick‐borne encephalitis (TBE) cases has increased. The presumed location of transmission of Tick‐borne encephalitis virus (TBEV) has been expanding increasingly in the western parts of Europe during the past decade. There has also been an increased incidence of surveillance‐reported TBE cases in southern Sweden and southern ...
H. H. Askling, D. Zavadska
wiley   +1 more source

Rhinocerebral Mucormycosis with Extensive Cranial Nerve Palsies in a Diabetic Patient. [PDF]

Cureus, 2023
Munasinghe KVP, Silva FHDS.
europepmc   +1 more source