Results 51 to 60 of about 9,381 (248)
Advances in Digestive Medicine, EarlyView.Abstract Pharyngeal high‐resolution manometry with impedance (P‐HRM‐I) is an established assessment method used to evaluate pharyngeal swallowing. It provides precise quantification of swallowing biomechanics that enable the detection of alterations in swallowing physiology.
Mistyka Schar +5 more
wiley +1 more source
Anemia following zinc treatment for Wilson’s disease: a case report and literature review
BMC Gastroenterology, 2019 Background Zinc therapy is considered an effective and safe treatment for Wilson’s disease. Hypocupremia-related anemia is rarely reported after long-term zinc administration or combination therapy with copper-chelating agent. Case presentation We herein
Sha Cai +3 more
doaj +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
A case of Wilson’s disease presenting as acute hepatitis
Khyber Medical University Journal, 2012 In Bangladesh and in most parts common causes of acute hepatitis include hepatitis viruses, alcohol and drugs. However less common aetiologies like Wilson’s disease must be kept in mind and looked for, whenever there is strong suspicion.
Nuzhat Choudhury +2 more
doaj
JHEP Reports, 2020 Background & Aims: Acute liver failure as the initial presentation of Wilson’s disease is usually associated with onset in childhood, adolescence or early adulthood.
Samuel Shribman +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source
Вестник трансплантологии и искусственных органов, 2017 Wilson’s disease is a rare congenital disease caused by deficiency of the copper-transporting P-type ATPase-B enzyme. The course of disease varies widely from the latent form to the acute liver failure which is observed in 5% of Wilson’s disease cases ...
A. R. Monakhov +7 more
doaj +1 more source
Rationale of New Grading System: Central Compartment Atopic Disease
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna +11 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Quaking‐induced conversion (QuIC) tests, which detect prion‐seeding activity in cerebrospinal fluid (CSF), have markedly advanced the antemortem diagnosis of prion diseases such as Creutzfeldt‐Jakob disease (CJD). These tests provide high diagnostic accuracy and enable timely differentiation from other rapidly progressive neurodegenerative ...
Jennifer Myskiw +13 more
wiley +1 more source
Hepatology, EarlyView., 2022 Graphical abstract summarizing the study design, main results and key findings Abstract Background and Aims Fatty liver disease (FLD) has been associated with excess mortality. Screening for hepatic steatosis (HS) in patients with metabolic dysfunction is therefore recommended by several guidelines, despite a paucity of evidence on the clinical ...
Laurens A. van Kleef +5 more
wiley +1 more source