Results 41 to 50 of about 4,254 (195)

Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum. [PDF]

PLoS ONE, 2016
BACKGROUND:Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So
Simon Pingel, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer   +11 more
doaj   +1 more source

Ultrastructural aspects of pseudoxanthoma elasticum [PDF]

Anais Brasileiros de Dermatologia, 2017
: We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities.
Hiram Larangeira de Almeida Jr., Mariana Geber de Almeida, Valéria Magalhães Jorge, Luciana Boff de Abreu   +3 more
doaj   +1 more source

Pseudoxanthoma Elasticum: Report of Two Cases

Case Reports in Dermatology, 2021
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 ...
Israel Antonio Esquivel-Pinto, Maria Elisa Vega-Memije, Araceli Alvarado-Delgadillo, Andres Eduardo Campuzano-Garcia, Amairani Manríquez-Robles   +4 more
doaj   +1 more source

Increased Intracranial Arterial Pulsatility and Microvascular Brain Damage in Pseudoxanthoma Elasticum. [PDF]

AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Carotid siphon calcification might contribute to the high prevalence of cerebrovascular disease in pseudoxanthoma elasticum through increased arterial flow pulsatility.
Bartstra JW, van den Beukel T, Kranenburg G, Geurts LJ, den Harder AM, Witkamp T, Wolterink JM, Zwanenburg JJM, van Valen E, Koek HL, Mali WPTM, de Jong PA, Hendrikse J, Spiering W.   +13 more
europepmc   +3 more sources

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Pseudoxanthoma elasticum and nephrocalcinosis [PDF]

Kidney International, 2016
Figure 2 | Fundus photograph. Characteristic peau d’orange pigmentary pattern in the periphery of the retina (triangle) and copious angioid streaks originating from the peripapillary region (arrows). A 36-year-old woman was referred to our clinic for nephrocalcinosis.
Seeger, Harald, Mohebbi, Nilufar
openaire   +4 more sources

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source

Pseudoxanthoma elasticum [PDF]

Postgraduate Medical Journal, 1970
Summary Eight cases of pseudoxanthoma elasticum seen in a Medical Unit in Singapore are described. Of these six belonged to one family. The clinical presentations of these cases, especially the first case who was a diagnostic problem for 5 years, are described. Transmission in this family is autosomal-recessive.
openaire   +2 more sources

Angioid streaks. A case report

Medisur, 2011
Angioid streaks are breaks in Bruch's membrane displayed at the bottom of the eye as orange or gray bands around the optic disc, and from that point on they extend radially.
Aimé Broche Hernández, Mayra Rodríguez Casales, Iusimí Guillén Brizuela   +2 more
doaj   +2 more sources

Elevated Hemoglobin A2: A Molecular Revisited, and Implications to β‐Thalassemia Screening

Journal of Clinical Laboratory Analysis, Volume 40, Issue 15, August 2026.
In Thailand, the Hb A2 cut‐off value for β‐thalassemia carrier has been changed from 4.0% to 3.6% since 2015. We examined the molecular basis of β‐thalassemia in a large cohort of Thai subjects with this change. The molecular basis of β‐thalassemia was updated, and a change in the Hb A2 cut‐off can alter this spectrum.
Kritsada Singha, Anupong Pansuwan, Hataichanok Srivorakun, Attawut Chaibunruang, Supawadee Yamsri, Wanicha Tepakhan, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen   +8 more
wiley   +1 more source