Results 41 to 50 of about 1,098,240 (291)

Wilson disease [PDF]

Nature Reviews Disease Primers, 2018
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs.
Członkowska, Anna, Litwin, Tomasz, Dusek, Petr, Ferenci, Peter, Lutsenko, Svetlana, Medici, Valentina, Rybakowski, Janusz K, Weiss, Karl Heinz, Schilsky, Michael L   +8 more
openaire   +6 more sources

The first experience of non-interferon therapy of HCV infection in patients with Wilson-Konovalov’s disease [PDF]

Терапевтический архив, 2018
In the article we present three clinical observations demonstrating that HCV infection in patients with remission of Wilson disease causes an recrudescence of the disease, in one of the observations - decompensation of liver cirrhosis.
T P Rozina, T M Ignatova, S V Fastovets, E E Starostina, L M Samokhodskaia, T N Krasnova   +5 more
doaj   +1 more source

Wilson – Konovalov Disease: Clinical Cases with Different Manifestations and Outcomes

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2023
Аim: to describe clinical cases of Wilson – Konovalov disease in pediatric patients.Key points. The first clinical case demonstrates the manifestation of Wilson – Konovalov disease with unexplained mild elevation of aminotransferases at the age of 6 ...
O. V. Samodova, G. P. Smirnova, E. A. Krieger   +2 more
doaj   +1 more source

Investigation of a Q fever outbreak in a Scottish co-located slaughterhouse and cutting plant [PDF]

, 2010
Outbreaks of Q fever are rare in the UK. In 2006, the largest outbreak of Q fever in Scotland occurred at a co-located slaughterhouse and cutting plant with 110 cases.
Australian Government, British Thoracic Society Standards of Care Committee, Camacho, Chiu, Cutler, Derrick, Fenollar, Hawker, Health Protection Agency, Kermode, Marmion, Maurin, McCaughey, Pollock, Raoult, Raoult, Shapiro, Smith, Thomas, Van Woerden, Waag, Wildman   +21 more
core   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

Travelers’ diarrhea and other gastrointestinal symptoms among Boston-area international travelers [PDF]

, 2017
INTRODUCTION: Travelers' diarrhea (TD) and non-TD gastrointestinal (GI) symptoms are common among international travelers. In a study of short-term travelers from Switzerland to developing countries, the most common symptom experienced was severe ...
Barnett, Elizabeth D., Benoit, Christine M., Chen, Lin H., Hamer, Davidson H., Han, Pauline V., Jentes, Emily S., NacLeod, William B., Stoney, Rhett J., Wilson, Mary E.   +8 more
core   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

Molecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source

Wilson disease in Northern Portugal: a long-term follow-up study

Orphanet Journal of Rare Diseases, 2022
Introduction Wilson disease is an autosomal recessive disease of liver copper metabolism with predominant hepatic and neurological manifestations. Long-term data on the clinical follow-up and treatment efficacy are limited due to the low frequency of the
Isabel Garrido, Margarida Marques, Rodrigo Liberal, Hélder Cardoso, Susana Lopes, Guilherme Macedo   +5 more
doaj   +1 more source