Results 31 to 40 of about 61,429 (293)

Acrogeria: A rare congenital aging syndrome

Indian Journal of Paediatric Dermatology, 2023
Acrogeria is a rare, nonhereditary genetic syndrome that presents with nonprogressive atrophy of the skin of the distal extremities, giving it an aged appearance. The patients have characteristic facies with pinched faces, an “owl-eyed” appearance, and a
Aparna Thirumalaiswamy, Vidya D Kharkar, Anmol Bhargava   +2 more
doaj   +1 more source

The bilateral onset of dilated blood vessels on the face in a pregnant patient

Journal of Indian Academy of Oral Medicine and Radiology, 2023
Telangiectasias are superficial skin blood vessels arising from arterioles, venules, or capillaries. Arteriolar telangiectasias are small, bright red vessels which flush with the skin. While generally harmless, they can be a cosmetic concern.
Ranjana Garg, Suresh K Veerabhadrappa, Vivek Vijay Gupta, Seema Yadav   +3 more
doaj   +1 more source

Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia

, 2022
The ataxia-telangiectasia mutated (ATM) protein kinase is, as the name implies, mutated in the human genetic disorder ataxia-telangiectasia (A-T). This protein has its “finger in many pies”, being responsible for the phosphorylation of many ...
Abrey Jie Yeo, Magtouf Hnaidi Gatei, Coman, David John, David John Coman, Martin Francis Lavin, Yeo, Abrey Jie, Subramanian, Goutham Narayanan, Lavin, Martin Francis, Goutham Narayanan Subramanian, Gatei, Magtouf Hnaidi   +9 more
core   +1 more source

Neodymium long-pulse laser as a monotherapy for unaesthetic vessels of various locations: a series of clinical observations

Амбулаторная хирургия, 2023
The article presents a series of clinical cases describing the successful use of the long-pulse neodymium laser in removing unaesthetic reticular veins and telangiectasia of various locations.
M. A. Parikov, A. V. Patsyuk, S. S. Kulagina, E. V. Ozherelev, M. S. Agadzhanyan, M. V. Plotnikov, A. V. Maksimov, Sh. E. Orudzhev, K. O. Zhdanov, A. A. Sinitsyn, S. O. Perkov   +10 more
doaj   +1 more source

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia

, 2020
BackgroundAtaxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Prasad, Manish, Cooper, Andrew D, Chow, Gabriel, Dineen, Rob A, Whitehouse, William P, Hack, Lorna, Cooper, Andrew D., Dineen, Rob A., Raschke, Felix, Pszczolkowski, Stefan, Auer, Dorothee P, McGlashan, Hannah L., Whitehouse, William P., Auer, Dorothee P., McGlashan, Hannah L   +14 more
core   +1 more source

CLaCS – Cryo-Laser and Cryo-Sclerotherapy: the use of a transdermal laser in combination with sclerotherapy for the treatment of reticular varicosity

Амбулаторная хирургия, 2019
One of the  variants  of CLaCS  therapy  is presented - the  method  of treatment of reticular  varicosity  based  on the  combined application of injectable sclerotherapy and transdermal neodymium laser in combination  with skin cooling.
M. A. Parikov
doaj   +1 more source

Neck telangiectasia: A case with a twist [PDF]

Romanian Medical Journal, 2020
Telangiectasia represents a sign on the skin underlining multiple conditions, characterised by red/purple/blue thin lines caused by dilatation of capillaries/arterioles/venules.
Florica Sandru, Mihai Cristian Dumitrascu, Ana Valea, Anda Dumitrascu, Mara Carsote   +4 more
doaj   +1 more source

Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations

, 2021
Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this ...
Ernst J. Wolvetang, Hunter, Zoe, Martin F. Lavin, Hannah C. Leeson, Wolvetang, Ernst J, Alan Mackay-Sim, Leeson, Hannah C, Harman Kaur Chaggar, Chaggar, Harman Kaur, Mackay-Sim, Alan, Zoe Hunter, Lavin, Martin F   +11 more
core   +1 more source

Arterial oxygen content is precisely maintained by graded erythrocytotic responses in settings of high/normal serum iron levels, and predicts exercise capacity: an observational study of hypoxaemic patients with pulmonary arteriovenous malformations. [PDF]

, 2014
01/04/14 MEB.
Hannah C Tighe, Tighe Hannah C., Williams Louisa C., James E Jackson, Shovlin, CL, Santhirapala, V, Santhirapala Vatshalan, Williams, LC, Tighe, HC, Jackson James E., Claire L Shovlin, Shovlin Claire L., Vatshalan Santhirapala, Jackson, JE, Louisa C Williams   +14 more
core   +1 more source

Investigations into the molecular effects of single nucleotide polymorphism [PDF]

, 2000
Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
core   +1 more source