scholarly journals A 45-Day-Old Infant: A Case Report of Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome

2019 ◽  
Vol 11 (3) ◽  
Author(s):  
Pantea Tajik ◽  
Amir Hossein Goudarzian ◽  
Zeinab Pourzahabi
Keyword(s):  
Case Report ◽  
Renal Dysfunction ◽  
Arc Syndrome

Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: A case report

2013 ◽  
Vol 14 (1) ◽  
pp. 26-28 ◽  
Author(s):  
Omar I. Saadah ◽  
Bayan E. Bokhari ◽  
Taghreed M. Alshaeri ◽  
Wasil Jastaniah
Keyword(s):  
Case Report ◽  
Renal Dysfunction ◽  
Arc Syndrome

Congenital Arthrogryposis - Renal dysfunction-Cholestasis (ARC) syndrome : a case report

2021 ◽  
Vol 42 (1) ◽  
pp. 49-51
Author(s):  
C Colot ◽  
AB Johansson ◽  
C Vilain ◽  
J Soblet ◽  
K Ismaili ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Dysfunction ◽  
Arc Syndrome

scholarly journals Renal dysfunction in Leishmaniasis and Chagas disease coinfection: a case report

2018 ◽  
Vol 60 (0) ◽  
Author(s):  
Cid Carlos Soares de Alcântara ◽  
Laís Regina Lacerda Santana ◽  
Priscila Dourado Evangelista ◽  
André Costa Teixeira ◽  
Geraldo Bezerra da Silva Junior ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Dysfunction ◽  
Chagas Disease

scholarly journals Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

2004 ◽  
Vol 36 (4) ◽  
pp. 400-404 ◽  
Author(s):  
Paul Gissen ◽  
Colin A Johnson ◽  
Neil V Morgan ◽  
Janneke M Stapelbroek ◽  
Tim Forshew ◽  
...  
Keyword(s):  
Membrane Fusion ◽  
Renal Dysfunction ◽  
Arc Syndrome

scholarly journals A Case Report of Patient with Acute Alcoholic Hepatitis and Renal Dysfunction

2016 ◽  
Vol 16 (2) ◽  
pp. 138-143 ◽  
Author(s):  
Yeong-Eun Jeong ◽  
Jong-Dea Kim ◽  
Seok-Bong Kang ◽  
Seong-Mo Kim
Keyword(s):  
Case Report ◽  
Renal Dysfunction ◽  
Alcoholic Hepatitis ◽  
Acute Alcoholic Hepatitis

scholarly journals The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage

2015 ◽  
Vol 63 (3) ◽  
pp. 561-563 ◽  
Author(s):  
Angela C. Weyand ◽  
Rebecca M. Lombel ◽  
Steven W. Pipe ◽  
Jordan A. Shavit
Keyword(s):  
Renal Dysfunction ◽  
Aminocaproic Acid ◽  
Arc Syndrome

scholarly journals Weekly paclitaxel therapy for gastric cancer in patients with renal dysfunction: A case report

2016 ◽  
Vol 11 ◽  
pp. 26-28 ◽  
Author(s):  
Kyohei Kanematsu ◽  
Hironori Tsujimoto ◽  
Shinsuke Nomura ◽  
Hiroyuki Horiguchi ◽  
Nozomi Ito ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Case Report ◽  
Renal Dysfunction ◽  
Weekly Paclitaxel

scholarly journals The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila

2011 ◽  
Vol 192 (3) ◽  
pp. 383-390 ◽  
Author(s):  
Mohammed Ali Akbar ◽  
Charles Tracy ◽  
Walter H.A. Kahr ◽  
Helmut Krämer
Keyword(s):  
Renal Dysfunction ◽  
Immune Defense ◽  
Specific Requirement ◽  
Phagosome Maturation ◽  
Late Endosomes ◽  
Arc Syndrome ◽  
Hops Complex

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a fatal recessive disorder caused by mutations in the VPS33B or VPS16B genes. Both encode homologues of the Vps33p and Vps16p subunits of the HOPS complex necessary for fusions of vacuoles in yeast. Here, we describe a mutation in the full-of-bacteria (fob) gene, which encodes Drosophila Vps16B. Flies null for fob are homozygous viable and fertile. They exhibit, however, a defect in their immune defense that renders them hypersensitive to infections with nonpathogenic bacteria. fob hemocytes (fly macrophages) engulf bacteria but fail to digest them. Phagosomes undergo early steps of maturation and transition to a Rab7-positive stage, but do not mature to fully acidified phagolysosomes. This reflects a specific requirement of fob in the fusion of phagosomes with late endosomes/lysosomes. In contrast, cargo of autophagosomes as well as endosomes exhibit normal lysosomal delivery in fob cells. These findings suggest that defects in phagosome maturation may contribute to symptoms of ARC patients including recurring infections.

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