Results 21 to 30 of about 15,263 (240)

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

International Journal of Molecular Sciences, 2022
Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infants with severe neurodegeneration.
Makaila L. Furderer, Ellen Hertz, Grisel J. Lopez, Ellen Sidransky   +3 more
openaire   +2 more sources

Lung Involvement in Gaucher Disease

Case Reports in Clinical Practice, 2020
Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome.
Mahnaz Pejman Sani, Keivan Gohari Moghadam, Mahbube Ebrahimpur   +2 more
doaj   +1 more source

Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?

Diseases, 2023
We describe two cases of thalassemia intermedia (TI) patients with the presence of Gaucher-like cells in hematopoietic tissue biopsies, raising diagnostic dilemmas. The first is a 56-year-old female with bone lesions, splenomegaly, hypochromic microcytic
Veroniki Komninaka, Pagona Flevari, Georgios Karkaletsis, Theodoros Androutsakos, Theofili Karkaletsi, Ioannis Ntanasis-Stathopoulos, Evaggelia-Eleni Ntelaki, Evangelos Terpos   +7 more
doaj   +1 more source

Gaucher disease type 1 first recognized in an elderly patient with thrombocytopenia and lung adenocarcinoma

Clinical Case Reports, 2019
Recognizing Gaucher disease in elderly patients can be challenging. We present a Gaucher disease type 1 case diagnosed in an elderly patient with thrombocytopenia and lung adenocarcinoma.
Wen Shuai, Celeste Estefania Wagner, Narittee Sukswai, L. Jeffrey Medeiros, Carlos Bueso‐Ramos, Thein Hlaing Oo   +5 more
doaj   +1 more source

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target. [PDF]

J Cell Mol Med
ABSTRACT Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, yet its underlying genetic and molecular mechanisms remain incompletely understood. Variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, are not only responsible for Gaucher disease (GD) but also represent a significant genetic risk factor ...
Ardizzone A, Lanza M, Capra AP, Casili G, Bulzomì M, Luca F, Paterniti I, Campolo M, Esposito E.   +8 more
europepmc   +2 more sources

Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2019
Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation ...
Amal El Beshlawy, Vagishwari Murugesan, Pramod Kumar Mistry, Khaled Eid   +3 more
doaj   +1 more source

Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease

Egyptian Journal of Medical Human Genetics, 2015
Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of the membrane-bound lysosomal enzyme, acid β-glucosidase or glucocerebrosidase.
Azza A.G. Tantawy
doaj   +1 more source

Gaucher disease and the synucleinopathies: refining the relationship

Orphanet Journal of Rare Diseases, 2012
Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological
Campbell Tessa N, Choy Francis YM
doaj   +1 more source

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
Rolfs, A, Hermann Mascher, Boettcher, T, Anne-Katrin Giese (440558), Wittstock, M, Huebner, R, Roehle, A, Arndt Rolfs (140849), Zimran Ari, Deborah Elstein (487463), Mascher Hermann, Deborah Elstein, Ari Zimran, Röhle Anja, Wittstock Matthias, Arndt Rolfs, Grittner Ulrike, Tobias Böttcher (451245), Grittner, U, Jan Lukas, Rolfs Arndt, Jan Lukas (338014), Rayk Hübner (487464), Rayk Hübner, Uta Gölnitz, Ales Dudesek, Lukas Jan, Anja Röhle, Daniel Mascher (487462), Meyer, W, Tobias Böttcher, Giese, A-K, Mascher Daniel, Giese Anne-Katrin, Hermann Mascher (440562), Anne-Katrin Giese, Goelnitz, U, Daniel Mascher, Dudesek Ales, Ulrike Grittner, Uta Gölnitz (87824), Zimran, A, Matthias Wittstock (487467), Mascher, H, Elstein, D, Dudesek, A, Gölnitz Uta, Matthias Wittstock, Böttcher Tobias, Hübner Rayk, Ulrike Grittner (440560), Mascher, D, Ari Zimran (266246), Lukas, J, Wolfgang Meyer, Meyer Wolfgang, Wolfgang Meyer (440563), Elstein Deborah, Anja Röhle (487465), Ales Dudesek (487466)   +59 more
core   +1 more source