scholarly journals ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy

2017 ◽  
Vol 18 (7) ◽  
pp. 1488 ◽  
Author(s):  
Karobi Moitra ◽  
Sonia Garcia ◽  
Michelle Jaldin ◽  
Clementine Etoundi ◽  
Donna Cooper ◽  
...  
Keyword(s):  
Rare Disease ◽  
Pseudoxanthoma Elasticum ◽  
The Face

scholarly journals Two Filipino Children with Oromandibular Limb Hypogenesis Spectrum

2017 ◽  
Vol 51 (3) ◽  
Author(s):  
Mary Ann R. Abacan ◽  
Richard dL. Quing ◽  
Maria Melanie Liberty B. Alcausin ◽  
Bernard U. Tansipek ◽  
Eva Maria Cutiongco-Dela Paz
Keyword(s):  
Respiratory Distress ◽  
Rare Disease ◽  
Early Recognition ◽  
Lower Extremities ◽  
Surgical Correction ◽  
Congenital Defects ◽  
Feeding Difficulties ◽  
Filipino Children ◽  
The Face ◽  
Exact Etiology

Oromandibular Limb Hypogenesis Spectrum (OMLHS) [OMIM 103300] is a rare disease characterized by congenital defects of the face, mandible, tongue and hypoplastic limbs. The exact etiology remains unknown. We present two Filipino children diagnosed with OLMHS. Patient 1 is a 2-year-old female noted to have micrognathia, sygnathia and hypoplasia of distal extremities. Patient 2 is a 6-year-old male with hypoplastic mandible, micrognathia, micromelia of both lower extremities and syndactyly of hands. The early recognition of this disease is important so that early surgical correction of deformities particularly the hypoplastic mandible be addressed to avoid complications such as respiratory distress and feeding difficulties.

OP - CONGENITAL LIPOMATOSIS OF THE FACE: A RARE DISEASE

2017 ◽  
Vol 123 (2) ◽  
pp. e33
Author(s):  
MARINA DE OLIVEIRA VERÍSSIMO ◽  
OPHIR RIBEIRO ◽  
SERGIO ADAMOLI ◽  
CLAUDIA PEREZ TRINDADE FRAGA ◽  
DANIEL HACOMAR DOS SANTOS ◽  
...  
Keyword(s):  
Rare Disease ◽  
The Face

scholarly journals Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications

2019 ◽  
Vol 20 (24) ◽  
pp. 6353 ◽  
Author(s):  
Emmanuel Letavernier ◽  
Elise Bouderlique ◽  
Jeremy Zaworski ◽  
Ludovic Martin ◽  
Michel Daudon
Keyword(s):  
Rare Disease ◽  
Kidney Stones ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Pseudoxanthoma Elasticum ◽  
Elastic Fibers ◽  
Mendelian Disease ◽  
Vascular Calcifications ◽  
Stone Formers ◽  
Abcc6 Gene

Pseudoxanthoma elasticum is a rare disease mainly due to ABCC6 gene mutations and characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in skin, cardiovascular and retinal calcifications. It has been recently described that pyrophosphate (a calcification inhibitor) deficiency could be the main cause of ectopic calcifications in this disease and in other genetic disorders associated to mutations of ENPP1 or CD73. Patients affected by Pseudoxanthoma Elasticum seem also prone to develop kidney stones originating from papillary calcifications named Randall’s plaque, and to a lesser extent may be affected by nephrocalcinosis. In this narrative review, we summarize some recent discoveries relative to the pathophysiology of this mendelian disease responsible for both cardiovascular and renal papillary calcifications, and we discuss the potential implications of pyrophosphate deficiency as a promoter of vascular calcifications in kidney stone formers and in patients affected by chronic kidney disease.

scholarly journals Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions

2013 ◽  
Vol 88 (3) ◽  
pp. 428-431 ◽  
Author(s):  
Flavia Trevisan ◽  
Paulo Rowilson Cunha ◽  
Clovis Antonio Lopes Pinto ◽  
Fernanda Gomes Cattete
Keyword(s):  
Rare Disease ◽  
Heart Block ◽  
Congenital Heart ◽  
Clinical Manifestations ◽  
Congenital Heart Block ◽  
Neonatal Lupus ◽  
Cutaneous Manifestations ◽  
Cutis Marmorata Telangiectatica Congenita ◽  
The Face ◽  
Cutaneous Lupus

Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atrophy and photosensitivy, clinically and histologically similar to subacute cutaneous lupus. However, in some cases, the lesions may resemble those in cutis marmorata telangiectatica congenita, although this phenomenon is rare and only eight such cases have been reported to date. We report a case of cutaneous neonatal lupus with atypical lesions on the limbs, which had a reddish-purple marbled appearance, resembling the lesions in cutis marmorata telangiectatica congenita.

scholarly journals Pseudoxanthoma Elasticum: Report of Two Cases

2021 ◽  
pp. 230-237
Author(s):  
Israel Antonio Esquivel-Pinto ◽  
Maria Elisa Vega-Memije ◽  
Araceli Alvarado-Delgadillo ◽  
Andres Eduardo Campuzano-Garcia ◽  
Amairani Manríquez-Robles
Keyword(s):  
Early Diagnosis ◽  
Rare Disease ◽  
Autosomal Recessive ◽  
Genetic Defect ◽  
Autosomal Recessive Inheritance ◽  
Pseudoxanthoma Elasticum ◽  
Elastic Fibers ◽  
Elastic Tissue ◽  
Recessive Inheritance ◽  
Therapeutic Approaches

Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch’s membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches.

scholarly journals Sporadic Progressive Symmetric Erythrokeratoderma: Classical Presentation of a rare Condition

2019 ◽  
Vol 17 (1) ◽  
pp. 69-72
Author(s):  
Kompal Agarwal ◽  
Sudha Agrawal ◽  
Anju Pradhan
Keyword(s):  
Early Childhood ◽  
Rare Disease ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Palmoplantar Keratoderma ◽  
The Family ◽  
The Face ◽  
History Of ◽  
Erythematous Plaques ◽  
Systemic Abnormality

Progressive symmetrical erythrokeratodermia (PSEK) is a rare autosomal dominant genodermatosis presenting in infancy or early childhood. An 11-year-old male presented with a history of pruritic, erythematous, scaly, hyperkeratotic plaques first noted at 5 years of age, with no history of similar lesions in the family. Cutaneous examination revealed multiple, irregularly shaped, erythematous plaques with fine, shiny white, adherent scaling distributed symmetrically over the face, trunk, inguinal area, bilateral axillae and extensor surfaces of limbs. Palmoplantar keratoderma was present with thickened, yellowish discolored nails. No systemic abnormality was found. The histopathological findings were consistent with PSEK. The case is being reported to increase the awareness about this rare disease.

Why do people believe in a zero-sum economy?

2018 ◽  
Vol 41 ◽  
Author(s):  
Samuel G. B. Johnson
Keyword(s):  
Perspective Taking ◽  
Evolutionary Model ◽  
Everyday Experience ◽  
Coalitional Psychology ◽  
The Face ◽  
Zero Sum

AbstractZero-sum thinking and aversion to trade pervade our society, yet fly in the face of everyday experience and the consensus of economists. Boyer & Petersen's (B&P's) evolutionary model invokes coalitional psychology to explain these puzzling intuitions. I raise several empirical challenges to this explanation, proposing two alternative mechanisms – intuitive mercantilism (assigning value to money rather than goods) and errors in perspective-taking.

Mars: was There an Ancient Eden?

1997 ◽  
Vol 161 ◽  
pp. 203-218 ◽  
Author(s):  
Tobias C. Owen
Keyword(s):  
Positive Answer ◽  
Biogenic Elements ◽  
Habitable Zones ◽  
The Face ◽  
The Origin Of Life ◽  
Early Mars ◽  
Favorable Conditions ◽  
Open Question ◽  
Rocky Planets ◽  
Impact Erosion

AbstractThe clear evidence of water erosion on the surface of Mars suggests an early climate much more clement than the present one. Using a model for the origin of inner planet atmospheres by icy planetesimal impact, it is possible to reconstruct the original volatile inventory on Mars, starting from the thin atmosphere we observe today. Evidence for cometary impact can be found in the present abundances and isotope ratios of gases in the atmosphere and in SNC meteorites. If we invoke impact erosion to account for the present excess of129Xe, we predict an early inventory equivalent to at least 7.5 bars of CO2. This reservoir of volatiles is adequate to produce a substantial greenhouse effect, provided there is some small addition of SO2(volcanoes) or reduced gases (cometary impact). Thus it seems likely that conditions on early Mars were suitable for the origin of life – biogenic elements and liquid water were present at favorable conditions of pressure and temperature. Whether life began on Mars remains an open question, receiving hints of a positive answer from recent work on one of the Martian meteorites. The implications for habitable zones around other stars include the need to have rocky planets with sufficient mass to preserve atmospheres in the face of intensive early bombardment.

Evidence for a shear mechanism for the precipitation of γ-zirconium hydride in zirconium

1978 ◽  
Vol 36 (1) ◽  
pp. 658-659
Author(s):  
G.J.C. Carpenter
Keyword(s):  
Elevated Temperature ◽  
Strain Field ◽  
Zirconium Hydride ◽  
Zirconium Atom ◽  
Atom Diffusion ◽  
Solvus Temperature ◽  
Hexagonal Close Packed ◽  
Partial Dislocations ◽  
The Face

In zirconium-hydrogen alloys, rapid cooling from an elevated temperature causes precipitation of the face-centred tetragonal (fct) phase, γZrH, in the form of needles, parallel to the close-packed <1120>zr directions (1). With low hydrogen concentrations, the hydride solvus is sufficiently low that zirconium atom diffusion cannot occur. For example, with 6 μg/g hydrogen, the solvus temperature is approximately 370 K (2), at which only the hydrogen diffuses readily. Shears are therefore necessary to produce the crystallographic transformation from hexagonal close-packed (hep) zirconium to fct hydride.The simplest mechanism for the transformation is the passage of Shockley partial dislocations having Burgers vectors (b) of the type 1/3<0110> on every second (0001)Zr plane. If the partial dislocations are in the form of loops with the same b, the crosssection of a hydride precipitate will be as shown in fig.1. A consequence of this type of transformation is that a cumulative shear, S, is produced that leads to a strain field in the surrounding zirconium matrix, as illustrated in fig.2a.

A study of interface sliding at F.C.C.-B.C.C. boundaries in a Cu-Zn alloy

1978 ◽  
Vol 36 (1) ◽  
pp. 422-423
Author(s):  
F. Monchoux ◽  
A. Rocher ◽  
J.L. Martin
Keyword(s):  
Face Centered Cubic ◽  
Creep Tests ◽  
High Voltage Electron Microscopy ◽  
Diffusion Treatment ◽  
Voltage Electron ◽  
The Face ◽  
Face Centered ◽  
Interface Sliding ◽  
Zn Alloy ◽  
Made In

Interphase sliding is an important phenomenon of high temperature plasticity. In order to study the microstructural changes associated with it, as well as its influence on the strain rate dependence on stress and temperature, plane boundaries were obtained by welding together two polycrystals of Cu-Zn alloys having the face centered cubic and body centered cubic structures respectively following the procedure described in (1). These specimens were then deformed in shear along the interface on a creep machine (2) at the same temperature as that of the diffusion treatment so as to avoid any precipitation. The present paper reports observations by conventional and high voltage electron microscopy of the microstructure of both phases, in the vicinity of the phase boundary, after different creep tests corresponding to various deformation conditions.Foils were cut by spark machining out of the bulk samples, 0.2 mm thick. They were then electropolished down to 0.1 mm, after which a hole with thin edges was made in an area including the boundary

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