Results 51 to 60 of about 4,096 (231)

Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]

, 2017
El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto, Sánchez-Niño, María Dolores   +1 more
core   +2 more sources

Solitary Angiokeratoma of the Buccal Mucosa. Report of a Case

Balkan Journal of Dental Medicine, 2014
Background: Angiokeratoma is an asymptomatic, hyperkeratotic, capillary disorder of the skin present as solitary or multiple, keratotic papules or plaques, which may also be related to Fabry disease.
Andreadis Dimitrios, Poulopoulos Athanasios K., Asimaki Anthi, Albanidou-Farmaki Eleni, Markopoulos Anastasios K.   +4 more
doaj   +1 more source

A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging

Diagnostics, 2023
Fabry disease (FD) is a multisystemic X-linked lysosomal storage disease that presents with angiokeratomas (AKs). Our objective was to investigate the clinical and morphologic features of AKs and to present two experimental techniques, multispectral ...
Pálma Anker, Luca Fésűs, Norbert Kiss, Anna Lengyel, Éva Pinti, Ilze Lihacova, Alexey Lihachev, Emilija Vija Plorina, György Fekete, Márta Medvecz   +9 more
doaj   +1 more source

shRNA-mediated downregulation of α-N-Acetylgalactosaminidase inhibits migration and invasion of cancer cell lines [PDF]

, 2017
Objective(s): Extracellular matrix (ECM) is composed of many kinds of glycoproteins containing glycosaminoglycans (GAGs) moiety. The research was conducted based on the N-Acetylgalactosamine (GalNAc) degradation of ECM components by α-N ...
Biglari, Alireza., Mirzaei, Seyed Abbas., Mortazavi, Yousef., Nadri, Samad., Saburi, Ehsan., Tavakolafshari, Jalil.   +5 more
core   +2 more sources

Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?

Indian Dermatology Online Journal, 2014
Klippel-Trenaunay syndrome (KTS) is a cutaneous capillary malformation on a limb in association with soft tissue swelling with or without bony hypertrophy and atypical varicosity.
Vaishali Wankhade, Rajesh Singh, Venus Sadhwani, Purnima Kodate, Amit Disawal   +4 more
doaj   +1 more source

Neurological complications of Anderson-Fabry disease [PDF]

, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 more
core   +1 more source

Fabry in the older patient: Clinical consequences and possibilities for treatment. [PDF]

, 2016
Baseline demographic and phenotypic characteristics of patients aged ≥50years in the Fabry Outcome Survey (Shire; data extracted June 2014) were compared with younger adults to investigate potential factors influencing treatment decisions in later life ...
Barbey, F, Bizjajeva, S, Brand, E, Hughes, DA, Lidove, O, Nicholls, K, Niu, DM   +6 more
core   +2 more sources

Robustness of a convolutional neural network trained on dermoscopic images and challenged with close‐up images

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Deep learning‐convolutional neural networks (DL‐CNNs) have demonstrated high diagnostic accuracy within the domain of dermoscopy. However, many clinical settings lack dermoscopic devices, requiring reliance on close‐up images. This study evaluates the robustness of a DL‐CNN trained on dermoscopic images when challenged
Anastasia Sophie Vollmer, Julia Katharina Winkler, Katharina Susanne Kommoss, Wilhelm Stolz, Albert Rosenberger, Alexander Enk, Holger Andreas Haenssle   +6 more
wiley   +1 more source

Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis

International Journal of Dermatology, EarlyView.
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla, Zseraldin Metyovinyi, Fanni Adél Meznerics, Arash Mirzahosseini, Judit Tőke, Miklós Tóth, Henriett Butz, Attila Patócs, Márta Medvecz   +8 more
wiley   +1 more source

Rare Case Report of Angiokeratoma of Tongue: An Uncommon Site

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Angiokeratoma is an uncommon benign vascular lesion characterized by superficial vascular ectasias along with overlying epidermal acanthosis and hyperkeratosis. In 1889, Mibelli documented the first instance of angiokeratoma on the fingers and toes.
Padmakar Bardapurkar, Mangesh Londhe, Yaminy Pradeep Ingale, Rupali Ramakant Bavikar, Charusheela Gore   +4 more
doaj   +1 more source