Results 71 to 80 of about 5,176,506 (186)

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Haematological Problems Associated with Gaucher's Disease [PDF]

, 2018
Five recent cases of Gaucher's disease seen at Groote Schuur Hospital illustrate the haematological complications. The main problem is hypersplenism with secondary thrombocytopenia.
Heaton, W.A.L., Jacobs, P., Heaton, WAL, Jacobs, P   +3 more
core  

An Overview on Audiological Abnormalities in Gaucher's Disease [PDF]

Zagazig University Medical Journal
Background: A group of metabolic disorders known as glycosphingolipid (GSL) lysosomal storage illnesses are brought on by mutations in the genes that code for the activator proteins or hydrolases that catabolise GSLs inside lysosomes.
Osama Elsafy, Nahla Ahmed Gad, Raghda Abdelgawad, Marwa Zakaria   +3 more
doaj   +1 more source

Real‐World Cost and Utilisation Burden of Diagnosed Metabolic Dysfunction‐Associated Steatotic Liver Disease in Patients With Type 2 Diabetes in the United States: A Retrospective Cohort Study

Diabetes, Obesity and Metabolism, Volume 28, Issue 12, Page 11394-11406, December 2026.
ABSTRACT Aims This study quantified the real‐world healthcare costs and utilisation associated with diagnosed metabolic dysfunction‐associated steatotic liver disease (MASLD) among adults with Type 2 diabetes (T2D). Methods We conducted a retrospective cohort study using IQVIA PharMetrics Plus Closed Health Plan data from January 2016 to June 2025 ...
Tien Hoang Tran, Hyung‐Seok Kim, Rozalina G. McCoy, Zafar Zafari   +3 more
wiley   +1 more source

Parkinson disease in Gaucher disease

Journal of Clinical Movement Disorders, 2017
Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD.We report two patients with GD that developed PD at different disease stages.We reviewed the literature on the coexistence of PD ...
Rodriguez-Porcel, Federico, Espay, Alberto J, Carecchio, Miryam   +2 more
openaire   +2 more sources

Beta-glucosidase activity as a diagnostic index of Gaucher's disease [PDF]

, 2019
Gaucher's disease is a disorder characterised by accumulation of glucocerebroside in the cells of the reticuloendothelial system due to the deficit of β-glucosidase.
Losman, Michelle J.
core  

Doença de Gaucher na gravidez.

Acta Médica Portuguesa, 1997
A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy.
I B Santana, L Soares, M C Cardoso, M J Costa, J M Doria, L M Graça   +5 more
doaj   +1 more source

Biopsychosocial Determinants of Hand Function and Its Trajectories Over Five Years in Patients With Hand Osteoarthritis

Arthritis Care &Research, Volume 78, Issue 11, Page 1721-1731, November 2026.
Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule, Coen van der Meulen, Jos Runhaar, Frits R. Rosendaal, Margreet Kloppenburg   +4 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Clinical History and Burden of Gaucher Disease Type 3: A Cross‐Sectional Multinational Study

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Gaucher disease Type 3 (GD3) is a rare genetic neurodegenerative disorder, characterized by heterogeneity in symptom burden, disease severity, and progression. There is limited evidence on the burden of GD3. This retrospective, cross‐sectional study estimated the burden of illness associated with GD3 using descriptive analyses of clinician ...
Eugen Mengel, Sinziana Stanescu, Alessio Di Fonzo, Aimee Donald, Tanya Collin‐Histed, Laurence Djatche, Idaira Rodriguez Santana, Jagan Mohan Palli, Maria Gabriela Perichon, Ruth Pulikottil‐Jacob, Fatih S. Ezgu   +10 more
wiley   +1 more source