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Medicine (Baltimore) 2020 Dec;99(49):e23498

Department of Anesthesiology and Pain Medicine, School of Medicine, Ewha Womans University, Ewha Womans University Mokdong Hospital, 1071 Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea.

Rationale: Recently, collagen therapy has been made available for treating rotator cuff tendon injuries. However, to our knowledge, there are no clinical studies objectively investigating the effect of collagen therapy.

Patient Concerns: A 53-year-old female patient visited our pain clinic because of pain in the right shoulder. Read More

Case Rep Genet 2020 24;2020:8872294. Epub 2020 Sep 24.

1 Department of Neonatology, Aristotle University of Thessaloniki, Ippokration General Hospital, Thessaloniki, Greece.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the 33 encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. We report a rare case of ARC syndrome without arthrogryposis caused by a novel mutation of 33. A female patient of Greek origin presented on the 14 day of life with renal tubular acidosis, Fanconi syndrome, nephrogenic diabetes insipidus, and cholestasis with normal gamma-glutamyl transpeptidase, without arthrogryposis and dysmorphic features. Read More

Traffic 2020 09 3;21(9):578-589. Epub 2020 Aug 3.

Department of Neuroscience, UT Southwestern Medical Center, Dallas, Texas, USA.

Loss of the arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome-linked Vps33B protein results in exaggerated inflammatory responses upon activation of receptors of the innate immune system in both vertebrates and flies. However, little is known about the signaling elements downstream of these receptors that are critical for the hypersensitivity of Vps33B mutants. Here, we show that p38b MAP kinase contributes to the enhanced inflammatory responses in flies lacking Vps33B. Read More

Pediatr Gastroenterol Hepatol Nutr 2019 Nov 11;22(6):581-587. Epub 2019 Nov 11.

Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the (Vacuolar protein sorting 33 homolog B) or (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. Read More

Hum Mutat 2019 12 3;40(12):2247-2257. Epub 2019 Sep 3.

The Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.

The typical phenotype of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome involves three cardinal symptoms as the name describes, harboring biallelic mutations on VPS33B or VIPAS39. Except for ARC syndrome, low gamma-glutamyltransferase (GGT) cholestasis often implies hereditary hepatopathy of different severity; however, some remain undiagnosed. Several monogenic defects typically with multiorgan manifestations may only present liver dysfunction at times, such as DGUOK defect and AGL defect. Read More