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Pathogenesis of varicose disease
Published in Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland, Manual of Venous and Lymphatic Diseases, 2017
Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland
It is possible that mutation of the FOXC2 gene is involved in inheritance of varicose veins. FOXC2 is a member of the fork head family of transcription factors that bind to DNA and is located on the 16th chromosome. It is at that position that transfer RNase lays down a family of micro-filamentous proteins termed actin which provide a scaffold for soft tissue structures including venous valves and vein walls, as well as controlling smooth muscle function. It is postulated that FOXC2 mutation impairs transfer RNse instructions to cause a weakened actin to be laid down which in turn causes the vein wall to dilate and venous valves to fail.
Pathogenesis of varicose veins and cellular pathophysiology of chronic venous insufficiency
Published in Peter Gloviczki, Michael C. Dalsing, Bo Eklöf, Fedor Lurie, Thomas W. Wakefield, Monika L. Gloviczki, Handbook of Venous and Lymphatic Disorders, 2017
Deoranie N. Abdel-Naby, Walter N. Duran, Brajesh K. Lal, Frank T. Padberg Jr., Peter J. Pappas
Ng et al.10 demonstrated that varicose veins in the normal population were linked to the candidate marker D16S520 on chromosome 16q24. A likely candidate gene within close proximity to the marker D16S520 is the forkhead box C2 (FOXC2). FOXC2 encodes a regulatory forkhead transcription factor and is expressed in the paraxial mesoderm and somites of the early vertebrate embryo. In later stages, its expression is noted in the heart and blood vessels.11FOXC2 is noted to play an important part in the development of the lymphatic system, demonstrating its importance in the development of lymphedema distichiasis.12 Since venous reflux is associated with valve abnormalities, FOXC2 may play a role in the development of both venous and lymphatic valvular dysfunction.13
Circulation of fluid between plasma, interstitium and lymph
Published in Neil Herring, David J. Paterson, Levick's Introduction to Cardiovascular Physiology, 2018
Neil Herring, David J. Paterson
During embryogenesis, the lymphatics sprout from the venous system and join up with a superficial lymphatic plexus (network) formed by mesenchymal lymphangio- blasts. This is why lymph drains, ultimately, into the large veins of the neck (Figure 11.18). Lymphatic growth is driven by an isoform of vascular endothelial growth factor C (VEGFC), and by the transcription factors fork- head box protein C2 (FOXC2) and prospero homeo- box protein 1 (PROX1). Inherited defects in the VEGFC receptor or FOXC2 cause different forms of hereditary lymphoedema.VEGFC is crucial for lymphatic growth and acts on the lymphatic endothelial receptor, vascular endothelial growth factor receptor 3 (VEGFR-3), a receptor tyrosine kinase. Milroy’s disease is an autosomal dominant form of human hereditary lymphoedema, caused by heterozygous mutation of VEGFR-3. This results in a severely hypoplastic (underdeveloped) peripheral lymphatic plexus and leg lymphoedema.FOXC2 is a transcription factor promoting the maturation of primary lymphatics into lymphatics with valves. FOXC2 -/- knockout mice still develop a lymphatic system, but the main lymphatics lack valves; also, the finest lymphatics, normally simple endothelial tubes, acquire smooth muscle. Lymphoedema- distichiasis syndrome is an autosomal dominant form of human hereditary lymphoedema caused by heterozygous, loss-of-function point mutations of the forkhead box C2 (FOXC2) gene. This results in leaky lymphatic valves, leg lymphoedema and a double row of eyelashes (distichiasis). Leg venous valves are leaky too, emphasizing the common ancestry of lymphatics and veins.PROX1 is a transcription factor whose deletion in mice results in a total aplasia (absence) of the lymphatic system and perinatal death.
Forkhead box C2 is associated with insulin resistance in gestational diabetes mellitus
Published in Gynecological Endocrinology, 2022
Jing Yang, Fen Liu, Yi Li, Dongbo Wu, Zhenhui Zhang, Sicen Chen, Mandan Deng, Chengying Yang, Jing Yang
FOXC2 expressed in the adipose tissues and skeletal muscles of humans, and the adipose tissues of adult mice [18]. Several studies identified that FOXC2 regulated adipocyte metabolism associated with whole body insulin sensitivity by involving in beta-adrenergic-cAMP-protein kinase A signaling pathway [11,19,20]. The expression level of FOXC2 protein and mRNA in the visceral adipose tissue of T2DM patients was significantly lower than that of nondiabetic patients [21]. GLUT4 is the main gene involved in adipose differentiation and glucose metabolism, which plays an important role in the production of insulin resistant. Both adipose tissue and skeletal muscle from women with GDM displayed decreased GLUT4 mRNA and protein expression compared normal glucose-tolerant pregnant control [22]. FOXC2 could promote the expression of GLUT4, and FOXC2 participates in the regulation of insulin resistance by regulating insulin-resistance-related genes GLUT4 [23]. We speculate that FOXC2 might involve in the development of GDM through GLUT4.
A new perspective in oculoplastic surgical management of symptomatic distichiasis in lymphedema-distichiasis syndrome
Published in Orbit, 2019
Twishaa Sheth, Michelle Attzs, Katya Tambe
Lymphedema-distichiasis syndrome (LDS), is a rare autosomal dominant condition, composed of lymphedema and distichiasis. It is associated with the FOXC2 gene with over 50 varying mutations accounting for the loss or gain of protein function.1–3 The lymphedema is typically of the lower limb with a variable age of onset, whereas the distichiasis can range from a little as a few lashes on one tarsal plate, to all four tarsal plates being affected with extra lashes.2,4 Distichiasis is observed in 94% of affected individuals, with ocular complications in 75% of those affected.4 Treatment for the distichiasis is varied with no definitive first-line surgical approach; the most common form of treatment being epilation or cryotherapy and lid split in more severe cases however other techniques such as eyelash trephination have shown some success.5 We describe a novel surgical technique in the treatment of congenital distichiasis.
A new surgical technique for congenital distichiasis
Published in Orbit, 2018
Alicia Galindo-Ferreiro, Hind Alkatan, Azza Maktabi, Alberto Gálvez-Ruiz, Silvana Schellini
Case 2: A 7 year-old male with a known diagnosis of congenital distichiasis presented with complaints of occasional episodes of photophobia and discharge. At presentation, he had keratinization of the lid margin, and abnormal thin, shorter and discolored lashes emerging from the Meibomian glands ostia in all eyelids. The abnormal lashes from the upper lids were causing corneal abrasions and there was positive fluorescein staining bilaterally. No lymphedema or other systemic abnormalities were detected. He had other affected first-degree relatives (father and 2 brothers) with the same disease. Genetic studies for FOXC2 were negative. The abnormal hairs were removed manually several times and the patient had undergone multiple sessions of electrolysis cauterization under general anesthesia. We elected to perform a tarsoconjunctival graft in both upper lids. The graft was obtained from the same side of each upper lid. At 9 months postoperatively, both upper lids margins were completely healed with good surgical outcome and no lashes were rubbing the cornea.