Results 41 to 50 of about 45,305 (223)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency

Case Reports in Gastroenterology, 2019
Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium.
Maria Zharkova, Tatiana  Nekrasova, Vladimir  Ivashkin, Marina  Maevskaya, Tatyana Strokova   +4 more
doaj   +1 more source

A multi-parametric analysis of Trypanosoma cruzi infection: common pathophysiologic patterns beyond extreme heterogeneity of host responses [PDF]

, 2017
The extreme genetic diversity of the protozoan Trypanosoma cruzi has been proposed to be associated with the clinical outcomes of the disease it provokes: Chagas disease (CD).
Chillón-Marinas, Carlos, Fernandez-Cortes, Fernando, Fresno, Manuel, Gironès, Núria, González-Rubio, María-Luisa, Martin, David, Santi-Rocca, Julien   +6 more
core   +3 more sources

Serum Cytokine Profiling Differentiates Underlying Diseases in Cytokine Storm Syndrome

Arthritis &Rheumatology, EarlyView.
Serum cytokine profiling was performed using Luminex (48 cytokines) and ELISA (5 cytokines). Assessment of key cytokines (IFN‐α, IL‐18, IL‐6, CXCL9) delineated five dominant inflammatory patterns: I, IFN‐α–dominant CSS; II, IL‐18–dominant CSS; III, IL‐6–dominant CSS; IV, IFN‐γ–dominant CSS; and V, IL‐6 & IFN‐γ intermediate CSS.
Shuya Kaneko, Maho Hatano, Asami Shimbo, Futaba Miyaoka, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mao Mizuta, Yasuo Nakagishi, Keiji Akamine, Naomi Iwata, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Koji Yokoyama, Toshinori Minato, Kazushi Izawa, Takahiro Yasumi, Tadashi Matsubayashi, Tadashi Hosoya, Hiroki Nishikawa, Junya Fujimura, Ryoko Asano, Yuko Sugita, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhide Eguchi, Ryuta Nishikomori, Ryuhei Yasuoka, Takaki Asano, Miyako Kanno, Kazuya Hamada, Yuji Fujita, Daisuke Hayashi, Shojiro Watanabe, Takeshi Shiba, Shinsuke Yasuda, Masaaki Mori, Hirokazu Kanegane, Masatoshi Takagi, Masaki Shimizu   +42 more
wiley   +1 more source

CASE OF THE LATE DIAGNOSIS OF POEMS-SYNDROME

Klinicist, 2014
POEMS-syndrome (P — polyneuropathy, O — organomegaly, E — endocrinopathy, M — M-protein, S — skin) in 64-year old patient isdescribed in the article.
P. N. Barlamov, M. E. Golubeva, E. R. Vasiliev, S. V. Meres, V. V. Shchekotov   +4 more
doaj   +3 more sources

Berardinelli-Seip Syndrome [PDF]

, 2011
We have reported two cases of Berardinelli-syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by Berardinelli and Seip, has been reported in approximately 120 patients of various ethnic origins ...
Dal, Sameer I, Patel, Hitesh
core   +1 more source

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis [PDF]

, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al.
Fukao, Toshiyuki, Orii, Kenji, Orii, Tadao, Suzuki, Yasuyuki, Tomatsu, Shunji   +4 more
core   +1 more source

Interleukin‐18 levels are associated with disease course in patients with Still's disease treated with IL‐1 inhibitors

Arthritis &Rheumatology, Accepted Article.
Objective To evaluate the prognostic utility of circulating Interleukin‐18 (IL‐18) levels in predicting disease activity, macrophage activation syndrome (MAS), and disease course in Still's disease (SD) patients receiving first‐line IL‐1 inhibitors (IL‐1i).
Matteo Trevisan, Manuela Pardeo, Ivan Caiello, Claudia Bracaglia, Arianna de Matteis, Valentina Matteo, Elena Loricchio, Fabrizio De Benedetti, Giusi Prencipe   +8 more
wiley   +1 more source

Differential diagnostics and correction of metabolic and immunological disorders in patients with hepatic cirrhosis, complicated hepatosplenomegalia and portal hypertension

Актуальні проблеми сучасної медицини, 2019
Summary: The study of the role of the spleen in the pathogenesis of liver cirrhosis is important for treatment. Currently available literature data indicate the role of altered spleen functions in the pathogenesis of liver cirrhosis.
Olena, Tetiana, Rostyslav, Igor, Ekaterina, Olga, Oleksandr   +6 more
doaj  

From hepatosplenomegaly to genetic diagnosis: A case of congenital disorder of glycosylation type IIb due to mannosyl-oligosaccharide glucosidase mutation

Journal of Integrative Medicine and Research
Congenital disorders of glycosylation (CDG) are rare metabolic conditions with heterogeneous presentations, often complicating diagnosis. We report a 5-year-old male born to consanguineous parents, presenting with a 2-year history of painless abdominal ...
Hari Nandan Reddy Golla, Srinivas Adari, Nirmal Kumar Mohakud, Swarnalata Das, Amit Ranjan Rup   +4 more
doaj   +1 more source