scholarly journals A novel nicastrin mutation in a three‐generation Dutch family with hidradenitis suppurativa: a search for functional significance

2020 ◽  
Vol 34 (10) ◽  
pp. 2353-2361 ◽  
Author(s):  
A.R.J.V. Vossen ◽  
K.R. van Straalen ◽  
S.M.A. Swagemakers ◽  
J.E.M.M. de Klein ◽  
A.P. Stubbs ◽  
...  
1988 ◽  
Vol 62 (01) ◽  
pp. 83-87 ◽  
Author(s):  
Patricia H. Kelley ◽  
Charles T. Swann

The excellent preservation of the molluscan fauna from the Gosport Sand (Eocene) at Little Stave Creek, Alabama, has made it possible to describe the preserved color patterns of 15 species. In this study the functional significance of these color patterns is tested in the context of the current adaptationist controversy. The pigment of the color pattern is thought to be a result of metabolic waste disposal. Therefore, the presence of the pigment is functional, although the patterns formed by the pigment may or may not have been adaptive. In this investigation the criteria proposed by Seilacher (1972) for testing the functionality of color patterns were applied to the Gosport fauna and the results compared with life mode as interpreted from knowledge of extant relatives and functional morphology. Using Seilacher's criteria of little ontogenetic and intraspecific variability, the color patterns appear to have been functional. However, the functional morphology studies indicate an infaunal life mode which would preclude functional color patterns. Particular color patterns are instead interpreted to be the result of historical factors, such as multiple adaptive peaks or random fixation of alleles, or of architectural constraints including possibly pleiotropy or allometry. The low variability of color patterns, which was noted within species and genera, suggests that color patterns may also serve a useful taxonomic purpose.


Author(s):  
C. N. Sun ◽  
J. J. Ghidoni

Endothelial cells in longitudinal and cross sections of aortas from 3 randomly selected “normal” mongrel dogs were studied by electron microscopy. Segments of aorta were distended with cold cacodylate buffered 5% glutaraldehyde for 10 minutes prior to being cut into small, well oriented tissue blocks. After an additional 1-1/2 hour period in glutaraldehyde, the tissue blocks were well rinsed in buffer and post-fixed in OsO4. After dehydration they were embedded in a mixture of Maraglas, D.E.R. 732, and DDSA.Aldehyde fixation preserves the filamentous and tubular structures (300 Å and less) for adequate demonstration and study. The functional significance of filaments and microtubules has been recently discussed by Buckley and Porter; the precise roles of these cytoplasmic components remains problematic. Endothelial cells in canine aortas contained an abundance of both types of structures.


2020 ◽  
Vol 99 (9) ◽  

Introduction: Perianal hidradenitis suppurativa is a chronic recurrent inflammatory, suppurative, and fistulising disease of apocrine glands, adjacent anal canal and soft tissues. Perianal area is the second most common affected area after axilla. There are three grades of the disease. Hidradenitis suppurativa represents a chronic, recurrent, deep-seated folliculitis resulting in abscesses, followed by the formation of sinus tracts and subsequent scarring. Perianal hidradenitis suppurativa is the last and the most serious grade of the disease and a specific access is needed for patient preparation and surgical treatment alone. The currently preferred method of treatment for patients with extensive perianal hidradentitis is excision and closure with combination of skin flaps, primary suture and skin graft in one or two stages. Case reports: There are three case reports of perianal hidradenitis suppurativa in this article. The local and overall initial treatment of patients followed by a radical excision and closure with a rotation skin flaps and skin grafts is described. The final results were satisfactory, with no recurrence or serious complication.


Author(s):  
Andrea Chiricozzi ◽  
Giulia Giovanardi ◽  
Dante R. Caposiena Caro ◽  
Michela Iannone ◽  
Clara De Simone ◽  
...  

Author(s):  
Emanuele Scala ◽  
Anna Balato ◽  
Claudio Marasca ◽  
Roberta Di Caprio ◽  
Annunziata Raimondo ◽  
...  

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