Results 61 to 70 of about 1,480,003 (297)

Skin and mucosal manifestations in patients with Thalassemia major

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2001
Objective: β-Thalassemia major is one of the common genetic disorders in Iran. In Isfahan, the prevalence of gene carriers is about 8%. As yet, no much information about skin manifestations of these patients has been published.
A Momeni, M Adabi, M Amin Javaheri, H Hoorfar   +3 more
doaj  

GelMA‐based 3D spheroids recapitulate transcriptomic and functional hallmarks of myeloid sarcoma

FEBS Open Bio, EarlyView.
GelMA 5% hydrogels support the formation of myeloid leukemia spheroids that recapitulate MS‐specific features, including G1 arrest, apoptosis, and ECM‐driven transcriptomic reprogramming. The 3D model mimicked soft‐tissue‐like stiffness and oxygen conditions, and transcriptomic convergence with primary MS samples confirmed its utility as a preclinical ...
Nicolas Germain, Elise Buret, Le Hoang Thanh Nguyen, Marion Cocheteux, Nicolas Touya, Mélanie Dhayer, Romain Dubois, Frank Lafont, Sebastien Janel, Patrice Maboudou, Steve Lancel, Philippe Marchetti   +11 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Skin manifestations of juvenile idiopathic arthritis

, 2013
Skin manifestations of juvenile idiopathic arthritis. Juvenile idiopathic arthritis (JIA) refers to a group of disorders characterized by chronic arthritis of unknown cause. It begins before the age of 16 years and by definition lasts longer than 6 weeks.
Cimaz R., Greco A., Antonella Greco, Cimaz, Rolando, Rolando Cimaz   +4 more
core   +1 more source

HYPOTHYROIDISM WITH UNUSUAL SKIN MANIFESTATIONS [PDF]

Archives of Dermatology and Syphilology, 1922
The case herewith reported presents features of such unusual interest that it seems to us worthy of record. The patient was a young child under our observation in the ward on three different occasions. Each time she was discharged as well. We have, however, been able to observe the evolution and involution of each attack from start to finish.
openaire   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Skin manifestations of tick bites in humans

, 2018
: Ticks are blood-sucking arthropods that attach to human skin through oral devices causing diverse initial cutaneous manifestations, and may also transmit serious infectious diseases.
Santos, Mônica, Cardoso, João Luiz Costa, Mônica Santos, Cardoso,João Luiz Costa, Haddad, Michel Raineri, Vidal Haddad Jr., Santos,Mônica, João Luiz Costa Cardoso, Michel Raineri Haddad, Haddad,Michel Raineri, Haddad, Vidal [UNESP], Haddad Jr.,Vidal, Haddad, Vidal, Haddad-Junior, Vidal   +13 more
core   +1 more source

Skin manifestations of a new coronovirus infection COVID-19 caused by SARS-CoV-2

Vestnik Dermatologii i Venerologii, 2020
The review is devoted to the skin manifestations of new coronovirus infection (SARS-CoV-2), information about which is constantly updated. However, this information has not been systematized yet.
Aleksey A. Khryanin, Viktor G. Sturov, Alexander P. Nadeev, Valentina К. Bocharova   +3 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Skin manifestations associated with checkpoint inhibitors

JEADV Clinical Practice, 2022
Immune checkpoint inhibitors (ICIs) are a relatively novel class of drugs whose administration has been approved for several malignancies. Adverse events are quite common, and the skin is the most frequently involved organ.
Gianluca Nazzaro, Stefano Buffon, Serena Giacalone, Carlo Alberto Maronese, Angelo Valerio Marzano   +4 more
doaj   +1 more source