Results 201 to 210 of about 1,098,240 (291)

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher, John Hicks, Krupa R. Mysore   +2 more
wiley   +1 more source

Wilson Disease Masquerading as Nephrotic Syndrome: A Case Report. [PDF]

Cureus
Gupta G, Kalita S, Mondal H, Kaushik JS.
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Study on the effect of mesenchymal stem cells on neural injury, inflammation and copper content in Wilson disease. [PDF]

Front Cell Neurosci
Zhou XX, Qin HL, Chen D, Liao J, Liu Y.
europepmc   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Clinical and Demographic Profile of Wilson Disease in Young Adults: A Retrospective Study at a Tertiary Care Center in Peshawar, Pakistan. [PDF]

Cureus
Khan I, Iftikhar M, Khan SJ.
europepmc   +1 more source

Nutritional and sensory characteristics of local and hybrid East African Highland cooking bananas: Implications for breeding programs

JSFA reports, EarlyView.
Abstract Background Bananas (Musa species) are an important staple food and cash crop in many parts of the world. The East African Highland cooking bananas form the backbone of food security for millions of Ugandans. The demand for high quality cooking bananas is thus closely linked to their sensory characteristics (which drive consumer preference) and
Willy Nelson Kisenyi, Pricilla Marimo, Moses Matovu, Kephas Nowakunda, Ediriisa Mugampoza, Samuel Gafuma, Timothy Omara, Ivan Kiganda   +7 more
wiley   +1 more source

Early life abuse and neglect in breast cancer survivors: Associations with physical and psychological health throughout diagnosis and survivorship

Journal of Traumatic Stress, EarlyView.
Abstract Childhood abuse and neglect worsen physical and mental health through adulthood. This study examined how childhood adversity affected physical and psychological symptoms associated with breast cancer treatment and survivorship at three points within the cancer trajectory. Breast cancer survivors (N = 209) were recruited following diagnosis and
Sonal K. Johal, M. Rosie Shrout, Annelise A. Madison, Stephanie J. Wilson, Stephen P. Povoski, William E. Carson III, Janice K. Kiecolt‐Glaser, Megan E. Renna   +7 more
wiley   +1 more source

Management of Wilson disease across Europe: an international physician-oriented survey by the ERN-RARE Liver group. [PDF]

Orphanet J Rare Dis
Kirk FT, Rewitz KS, Mariño Z, Couchonnal E, Lanthier N, Papenthin W, Berenguer M, Poujois A, Debray D, Ala A, García-Villarreal L, Pop TL, Denk G, Socha P, Sandahl TD.   +14 more
europepmc   +1 more source

Wilson's Disease [PDF]

Proceedings of the Royal Society of Medicine, 1947
openaire   +2 more sources